[ { "uniprot_canonical_ac": "Q9Y2T4-1", "uniprot_id": [ { "id": "2ABG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2T4", "type": "external" } ], "mass": 51515.0, "length": 447, "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform", "gene_name": "PPP2R2C", "organism": "Human", "refseq_name": "protein phosphatase 2, regulatory subunit B, gamma isoform c", "refseq_ac": [ { "id": "NP_001193923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193923", "type": "external" } ], "gene_names_uniprotkb": "PPP2R2C", "gene_names_refseq": "B55-GAMMA; B55gamma; IMYPNO1; IMYPNO; PPP2R2C; PR52; PR55G", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform; IMYPNO1; PP2A subunit B isoform B55-gamma; PP2A subunit B isoform PR55-gamma; PP2A subunit B isoform R2-gamma; PP2A subunit B isoform gamma", "protein_names_refseq": "phosphoprotein phosphatase 2A BR gamma regulatory chain; protein phosphatase 2, regulatory subunit B, gamma isoform c; protein phosphatase 2, regulatory subunit B, gamma; protein phosphatase 2A1 B gamma subunit", "tax_id": 9606, "disease": "autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441)", "pathway": " (hsa:5522)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10574460;10945473;11237011;25576301;25816751;27261573;28805158;28904123;29557506;30454882;32157095;32938616;37938771", "class_list": "", "function": "B55gamma is induced by glucocorticoid receptor in human primary BM-MSCs during differentiation to osteoblast and is required for osteoblast morphogenesis., [RefSeq, PubMed]; High genetic risk scores of SLIT3, PLEKHA5 and PPP2R2C variants increase susceptibility to increased insulin resistance by 50% and its risk may be exacerbated by consuming more than 10 cups coffee/week or 220 mg caffeine/day., [RefSeq, PubMed]; MiR-1301 promoted prostate cancer proliferation by inhibiting PPP2R2C., [RefSeq, PubMed]; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment., [UniProtKB]; The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [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, "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": 5, "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": "A8MSY7;B7Z3Y1;Q7Z4V7;Q8NEC4;Q9H3G7", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0000159 protein phosphatase type 2A complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9Y2T4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y614-1", "uniprot_id": [ { "id": "ACL7B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y614", "type": "external" } ], "mass": 45234.0, "length": 415, "protein_name": "Actin-like protein 7B", "gene_name": "ACTL7B", "organism": "Human", "refseq_name": "actin-like protein 7B", "refseq_ac": [ { "id": "NP_006677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006677", "type": "external" } ], "gene_names_uniprotkb": "ACTL7B", "gene_names_refseq": "ACTL7B; Tact1", "protein_names_uniprotkb": "Actin-like protein 7B; Actin-like-7-beta", "protein_names_refseq": "actin-like 7-beta; actin-like protein 7B; testis tissue sperm-binding protein Li 43a", "tax_id": 9606, "disease": "", "pathway": " (hsa:10880)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "10373328;17644991;18077418", "class_list": "", "function": "The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [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, "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": 11, "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": "B2R9Q2;Q5JSV1", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9Y614-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A7E2S9-1", "uniprot_id": [ { "id": "A30BL_HUMAN", "url": "https://www.uniprot.org/uniprot/A7E2S9", "type": "external" } ], "mass": 28549.0, "length": 258, "protein_name": "Putative ankyrin repeat domain-containing protein 30B-like", "gene_name": "ANKRD30BL", "organism": "Human", "refseq_name": "putative ankyrin repeat domain-containing protein 30B-like", "refseq_ac": [ { "id": "NP_001345345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001345345", "type": "external" } ], "gene_names_uniprotkb": "ANKRD30BL; NCRNA00164", "gene_names_refseq": "ANKRD30BL; ANKRD30BP3; NCRNA00164", "protein_names_uniprotkb": "Putative ankyrin repeat domain-containing protein 30B-like", "protein_names_refseq": "ankyrin repeat domain 30B pseudogene 3; putative ankyrin repeat domain-containing protein 30B-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:554226)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "30379171", "class_list": "", "function": "", "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": 0, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B8ZZL7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A7E2S9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30556-1", "uniprot_id": [ { "id": "AGTR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30556", "type": "external" } ], "mass": 41061.0, "length": 359, "protein_name": "Type-1 angiotensin II receptor", "gene_name": "AGTR1", "organism": "Human", "refseq_name": "type-1 angiotensin II receptor", "refseq_ac": [ { "id": "NP_000676", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000676", "type": "external" } ], "gene_names_uniprotkb": "AGTR1; AGTR1A; AGTR1B; AT2R1B; AT2R1", "gene_names_refseq": "AG2S; AGTR1B; AGTR1; AT1AR; AT1BR; AT1B; AT1R; AT1; AT2R1; ATR1; HAT1R", "protein_names_uniprotkb": "Type-1 angiotensin II receptor; AT1 receptor; AT1AR; AT1BR; Angiotensin II type-1 receptor", "protein_names_refseq": "AT1 receptor; type-1 angiotensin II receptor; type-1B angiotensin II receptor", "tax_id": 9606, "disease": "glomerulosclerosis (Disease Ontology:DOID:0050851); atrial fibrillation (Disease Ontology:DOID:0060224); COVID-19 (Disease Ontology:DOID:0080600); Alzheimer's disease (Disease Ontology:DOID:10652); renal hypertension (Disease Ontology:DOID:1073); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); nephritis (Disease Ontology:DOID:10952); sarcoidosis (Disease Ontology:DOID:11335); Friedreich ataxia (Disease Ontology:DOID:12705); Huntington's disease (Disease Ontology:DOID:12858); dilated cardiomyopathy (Disease Ontology:DOID:12930); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); Parkinson's disease (Disease Ontology:DOID:14330); renovascular hypertension (Disease Ontology:DOID:1591); breast cancer (Disease Ontology:DOID:1612); hyperinsulinism (Disease Ontology:DOID:2018); asthma (Disease Ontology:DOID:2841); IgA glomerulonephritis (Disease Ontology:DOID:2986); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); placental insufficiency (Disease Ontology:DOID:3891); renal cell carcinoma (Disease Ontology:DOID:4450); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); proteinuria (Disease Ontology:DOID:576); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); cerebrovascular disease (Disease Ontology:DOID:6713); chronic kidney disease (Disease Ontology:DOID:784); intermediate coronary syndrome (Disease Ontology:DOID:8805); vesicoureteral reflux (Disease Ontology:DOID:9620); renal tubular dysgenesis of genetic origin (MONDO:MONDO:0009970)", "pathway": " (hsa:185); (R-HSA-375276); (R-HSA-416476); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 5, "publication_count": 351, "publication_id_list": "10.1101/2023.09.13.557529;10079109;10097102;10100623;10191087;10381885;10421367;10421368;10436022;10438732;10461880;10498338;10499587;10535736;10542231;10559856;10559861;10559924;10567358;10567430;10604470;10613896;10625686;10727532;10766823;10769163;10854085;10861009;10899166;10983987;11015615;11071885;11076969;11082044;11231140;11237011;11239472;11247302;11322507;11385580;11454741;11457843;11470803;11516654;11517213;11532990;11562423;11577110;11588219;11683476;11742120;11753430;11773063;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12120503;12213833;12221107;12234931;12427552;12429842;12436935;12447393;12451172;12464600;12522132;12540846;12717448;12719537;1280419;12847086;12944396;12952949;12956774;12958364;1314587;1317848;1317852;1325670;1337145;1346068;1378723;14463577;14550283;14555962;14573733;14581451;14617351;14622578;14622579;14662753;14726597;1508224;15134832;15139756;15252009;15260957;15318165;15339664;1535555;1543512;15473838;15502812;15502813;1550596;15539556;15611106;15649145;15671180;1567413;15703209;15728179;15802264;15809376;15895077;15916959;15947423;15951850;16103228;16116425;16159959;16182515;16215232;16268778;16326391;16339447;16410077;16459302;16460808;16516836;1655761;16707488;16723738;16754659;16798879;16880396;16903783;16923326;17018281;17035995;1710450;1710578;17158794;1719979;1722333;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18127230;18166656;18199683;18388313;18434541;1847920;1847994;18515384;18577758;18775314;18790740;18819912;18936096;18981233;1905813;19092055;19139490;19140243;19287005;19296720;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20211604;20231386;20351096;20428113;20448150;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23297414;23446738;23536704;23690594;23823722;23861397;23891661;24130457;24186068;24384571;24581490;24680432;24746795;24789820;24906252;24966051;25107275;25303366;25341920;25913193;26042225;26403691;26420482;26460884;2649896;26829388;27496565;27862975;2841328;2890644;29557506;30524438;30639100;3086311;31154438;31844290;3202875;32079768;32161166;3366244;33713620;3417785;35051231;3525564;35580925;36215666;36284347;37074911;3856870;39080710;39288250;6146630;6274691;6281660;6373251;6589611;7057924;7524088;7569928;7590751;7592910;7592911;7624359;7792812;7797512;7822302;7877694;7905839;7937899;8035319;8062389;8063797;8135787;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8524399;8552632;8553074;8615752;8664309;8666380;8702752;873923;8823230;8837779;8987975;9092476;9100026;9169477;9171878;9303539;9305846;9427626;9428629;9516477;9521323;9530155;9593744;9607765;9635431;9685625;9722565;9723620;9736607;9770463;9792798;9812899;9832121;9851594", "class_list": "", "function": "(Microbial infection) During SARS coronavirus-2/SARS-CoV-2 infection, it is able to recognize and internalize the complex formed by secreted ACE2 and SARS-CoV-2 spike protein through DNM2/dynamin 2-dependent endocytosis., [UniProtKB, PubMed]; AGTR1 variant rs2638355 is associated with increased salt sensitivity of blood pressure: a female-specific effect in individuals from the HyperPath cohort., [RefSeq, PubMed]; Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2020]., [RefSeq]; Associations of ACE I/D and AGTR1 rs5182 polymorphisms with diabetes and their effects on lipids in an elderly Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for angiotensin II, a vasoconstricting peptide, which acts as a key regulator of blood pressure and sodium retention by the kidney. The activated receptor in turn couples to G-alpha proteins G(q) and thus activates phospholipase C and increases the cytosolic Ca(2+) concentrations, which in turn triggers cellular responses such as stimulation of protein kinase C., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 9718, "biomarker_type": "", "glycan_count": 3, "disease_count": 33, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q13725;Q8TBK4", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0031711 bradykinin receptor binding;GO:0001596 angiotensin type I receptor activity;GO:0004945 angiotensin type II receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 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:0019722 calcium-mediated signaling;GO:0042127 regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 35.7, "record_id": "P30556-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00170-1", "uniprot_id": [ { "id": "AIP_HUMAN", "url": "https://www.uniprot.org/uniprot/O00170", "type": "external" } ], "mass": 37664.0, "length": 330, "protein_name": "AH receptor-interacting protein", "gene_name": "AIP", "organism": "Human", "refseq_name": "AH receptor-interacting protein isoform 2", "refseq_ac": [ { "id": "NP_001289888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289888", "type": "external" } ], "gene_names_uniprotkb": "AIP; XAP2", "gene_names_refseq": "AIP; ARA9; FKBP16; FKBP37; PITA1; SMTPHN; XAP-2; XAP2", "protein_names_uniprotkb": "AH receptor-interacting protein; AIP; Aryl-hydrocarbon receptor-interacting protein; HBV X-associated protein 2; Immunophilin homolog ARA9; XAP-2", "protein_names_refseq": "AH receptor-interacting protein isoform 2; AH receptor-interacting protein; Ah receptor activated 9; FK506-binding protein 37; FKBP prolyl isomerase 16; HBV X-associated protein 2; X-associated protein-2; aryl hydrocarbon receptor interacting protein; aryl hydrocarbon receptor-associated protein 9; hepatitis B virus X-associated cellular protein 2; immunophilin homolog ARA9", "tax_id": 9606, "disease": "pituitary adenoma 1 (Disease Ontology:DOID:0112009); pituitary adenoma (Disease Ontology:DOID:3829)", "pathway": " (hsa:9049); (R-HSA-8937144); (R-HSA-8950505)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "10409767;11237011;11259606;11274138;12361709;12573486;15592455;16038020;16728643;17244780;17299063;17341560;17360484;17377532;17980155;18000031;18410548;18540824;18848529;19366855;19684062;21753072;22759865;23186163;23300914;23481700;25418920;25892735;26375851;26728094;28510447;30429286;33214551;34019948;36284347;36520303;36757586;36843582;37711900;37938771;38665916;38851643;40914422;7961644;8972861;9111057;9447995", "class_list": "", "function": "AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas. Publication Status: Online-Only, [RefSeq, PubMed]; Cellular negative regulator of the hepatitis B virus (HBV) X protein., [UniProtKB]; Functions of the Hsp90-Binding FKBP Immunophilins., [RefSeq, PubMed]; Germline AIP variants in sporadic young acromegaly and pituitary gigantism: clinical and genetic insights from a Han Chinese cohort., [RefSeq, PubMed]; May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Novel AIP mutation in exon 6 causing acromegaly in a German family., [RefSeq, PubMed]; The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein (AIP) gene. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "A0SZW3;A0SZW4;A0SZW5;A0SZW6;G9I2H4;Q2M3Q2;Q99606", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0051082 unfolded protein binding;GO:0017162 aryl hydrocarbon receptor binding;GO:0036004 GAF domain binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0034751 aryl hydrocarbon receptor complex", "go_biological_process": "GO:0006626 protein targeting to mitochondrion;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O00170-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00253-1", "uniprot_id": [ { "id": "AGRP_HUMAN", "url": "https://www.uniprot.org/uniprot/O00253", "type": "external" } ], "mass": 14440.0, "length": 132, "protein_name": "Agouti-related protein", "gene_name": "AGRP", "organism": "Human", "refseq_name": "agouti-related protein precursor", "refseq_ac": [ { "id": "NP_001129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129", "type": "external" } ], "gene_names_uniprotkb": "AGRP; AGRT; ART", "gene_names_refseq": "AGRP; AGRT; ART; ASIP2", "protein_names_uniprotkb": "Agouti-related protein", "protein_names_refseq": "agouti related protein homolog; agouti-related protein precursor; agouti-related protein", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:181); (R-HSA-9615017)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10102273;10217147;10358014;10371151;10480625;10913147;11145747;11326303;11602360;11747427;11779849;12056887;12213871;12239572;15927146;16384863;16783365;16840535;17041250;17185225;21536589;24028821;24040102;27547294;31361303;32414136;33470098;36577844;36765131;9119224;9311920;9724530;9892020", "class_list": "", "function": "AgRP neurons coordinate the mitigation of activity-based anorexia., [RefSeq, PubMed]; Discovery of Molecular Interactions of the Human Melanocortin-4 Receptor (hMC4R) Asp189 (D189) Amino Acid with the Endogenous G-Protein-Coupled Receptor (GPCR) Antagonist Agouti-Related Protein (AGRP) Provides Insights to AGRP's Inverse Agonist Pharmacology at the hMC4R., [RefSeq, PubMed]; Mitochondrial Dynamics and Microglia as New Targets in Metabolism Regulation. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear receptor 5A2 regulation of Agrp underlies olanzapine-induced hyperphagia. Review article, [RefSeq, PubMed]; Signaling protein that functions as an antagonist of melanocyte-stimulating-hormone receptors MC3R and MC4R by precluding agonist-induced signaling, thereby inhibiting cAMP production within the hypothalamus and adrenal gland (PubMed:10371151, PubMed:11145747, PubMed:9311920, PubMed:9892020). Involved in the control of feeding behavior via the central melanocortin system (PubMed:15927146, PubMed:9311920). Has very low activity towards MC5R (PubMed:9311920, PubMed:9892020). Also promotes endocytosis of MC3R and MC4R in an arrestin-dependent mechanism (PubMed:17041250)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The plasma AgRP levels were higher in those with active acromegaly than in the matched healthy subjects, and decreased after treatment with pegvisomant or with surgery., [RefSeq, PubMed]; This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 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, "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": 4, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O15459;Q2TBD9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0048019 receptor antagonist activity;GO:0005184 neuropeptide hormone activity;GO:0070996 type 1 melanocortin receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0043025 neuronal cell body", "go_biological_process": "GO:0032100 positive regulation of appetite;GO:0007218 neuropeptide signaling pathway;GO:0032098 regulation of appetite;GO:0042755 eating behavior;GO:0060135 maternal process involved in female pregnancy", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "O00253-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14639-1", "uniprot_id": [ { "id": "ABLM1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14639", "type": "external" } ], "mass": 87688.0, "length": 778, "protein_name": "Actin-binding LIM protein 1", "gene_name": "ABLIM1", "organism": "Human", "refseq_name": "actin-binding LIM protein 1 isoform b", "refseq_ac": [ { "id": "NP_001003407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407", "type": "external" } ], "gene_names_uniprotkb": "ABLIM1; ABLIM; KIAA0059; LIMAB1", "gene_names_refseq": "ABLIM1; ABLIM; LIMAB1; LIMATIN; abLIM-1", "protein_names_uniprotkb": "Actin-binding LIM protein 1; Actin-binding LIM protein family member 1; Actin-binding double zinc finger protein; LIMAB1; Limatin; abLIM-1", "protein_names_refseq": "actin-binding LIM protein 1 isoform b; actin-binding LIM protein family member 1; actin-binding double-zinc-finger protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:3983); (R-HSA-418885)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10995436;11237011;11817894;12149262;15040784;15144186;15302935;15494732;15494734;15557120;15592455;15788770;15960985;17081983;17194709;17322306;17525332;18066058;18077418;18088087;18212043;18212344;18253061;18452278;18669648;18767875;19413330;19562805;19664994;19664995;19690332;19901323;20058876;20068230;20068231;20166139;21406692;21547531;23186163;24275569;24715725;25123307;25576301;26154972;28580691;28657654;29237092;29351928;29437277;29485866;29493099;29557506;30059200;30620550;31373491;31492838;31844290;32157095;32357974;32488085;32938616;32983136;33061800;33298915;33592498;33691108;33981976;34846842;34932366;35051231;35132862;35254053;35289036;35513511;35580925;36284347;36581221;36583064;37340703;37938771;38228802;39302247;39363234;39531497;39534244;40307207;40596516;8344946;8861902;9245787;9950216", "class_list": "", "function": "ABLIM1, a novel ubiquitin E3 ligase, promotes growth and metastasis of colorectal cancer through targeting IkBalpha ubiquitination and activating NF-kB signaling., [RefSeq, PubMed]; Actin-Binding LIM 1 (ABLIM1) Inhibits Glioblastoma Progression and Serves as a Novel Prognostic Biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; May act as scaffold protein (By similarity). May play a role in the development of the retina. Has been suggested to play a role in axon guidance., [UniProtKB, PubMed]; SNP rs727532 in ABLIM1 (10q25) had significant association in the multivariate test & strong associations with novelty seeking, harm avoidance, reward dependence and alcohol dependence in the COGA sample., [RefSeq, PubMed]; Spitz melanoma with MAP3K8::ABLIM1 rearrangement: a case report with review of the literature. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a LIM zinc-binding domain-containing protein that binds to actin filaments and mediates interactions between actin and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2017]., [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": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 37, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "A6NI16;A6NJ06;A8MXA9;B3KVH2;Q15039;Q5JVV1;Q5JVV2;Q5T6N2;Q5T6N3;Q5T6N5;Q68CQ9;Q9BUP1", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0046872 metal ion binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0015629 actin cytoskeleton;GO:0030027 lamellipodium;GO:0001725 stress fiber", "go_biological_process": "GO:0007010 cytoskeleton organization;GO:0007601 visual perception;GO:0009887 animal organ morphogenesis;GO:0030032 lamellipodium assembly;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "O14639-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94788-1", "uniprot_id": [ { "id": "AL1A2_HUMAN", "url": "https://www.uniprot.org/uniprot/O94788", "type": "external" } ], "mass": 56724.0, "length": 518, "protein_name": "Retinal dehydrogenase 2", "gene_name": "ALDH1A2", "organism": "Human", "refseq_name": "retinal dehydrogenase 2 isoform 4", "refseq_ac": [ { "id": "NP_001193826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826", "type": "external" } ], "gene_names_uniprotkb": "ALDH1A2; RALDH2", "gene_names_refseq": "ALDH1A2; DIH4; RALDH(II); RALDH2-T; RALDH2", "protein_names_uniprotkb": "Retinal dehydrogenase 2; 1.2.1.36; ALDH1A2; Aldehyde dehydrogenase family 1 member A2; RALDH 2; RALDH(II); RalDH2; Retinaldehyde-specific dehydrogenase type 2", "protein_names_refseq": "RALDH 2; retinal dehydrogenase 2 isoform 4; retinal dehydrogenase 2; retinaldehyde-specific dehydrogenase type 2", "tax_id": 9606, "disease": "DiGeorge syndrome (Disease Ontology:DOID:11198); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); obesity (Disease Ontology:DOID:9970); diaphragmatic hernia 4, with cardiovascular defects (MONDO:MONDO:0859571)", "pathway": " (hsa:8854); (R-HSA-5365859)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10329026;10369264;10839978;11007799;11237011;11245473;12036956;12226107;12680773;14532297;14596915;18039331;18805086;1889753;20801113;21529158;21621639;21851338;22019272;22075477;23186163;23220587;26154972;29240402;2935875;3013304;30379171;31844290;31848261;32350084;32387766;33565183;34572134;35051231;35059888;35251023;35580925;36263470;38441233;38665916;8493914;9228021;9677409;9705317;9819382", "class_list": "", "function": "A functional variant of ALDH1A2 is associated with hand osteoarthritis in the Chinese population., [RefSeq, PubMed]; ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway., [RefSeq, PubMed]; An eQTL variant of ALDH1A2 is associated with Kashin-Beck disease in Chinese population., [RefSeq, PubMed]; Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (PubMed:29240402, PubMed:33565183). Retinoate signaling is critical for the transcriptional control of many genes, for instance it is crucial for initiation of meiosis in both male and female (Probable) (PubMed:33565183). Recognizes retinal as substrate, both in its free form and when bound to cellular retinol-binding protein (By similarity). Can metabolize octanal and decanal, but has only very low activity with benzaldehyde, acetaldehyde and propanal (By similarity). Displays complete lack of activity with citral (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The Presence and Potential Role of ALDH1A2 in the Glioblastoma Microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]., [RefSeq]", "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": 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": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KY52;B4DZR2;F5H2Y9;H0YM00;Q2PJS6;Q8NHQ4;Q9UBR8;Q9UFY0", "ec_number_list": [ { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.2.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.19", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" } ], "go_molecular_function": "GO:0001758 retinal dehydrogenase (NAD+) activity;GO:0004028 3-chloroallyl aldehyde dehydrogenase activity;GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0016918 retinal binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0001889 liver development;GO:0008285 negative regulation of cell population proliferation;GO:0051289 protein homotetramerization;GO:0071300 cellular response to retinoic acid;GO:0001822 kidney development", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "O94788-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94929-1", "uniprot_id": [ { "id": "ABLM3_HUMAN", "url": "https://www.uniprot.org/uniprot/O94929", "type": "external" } ], "mass": 77802.0, "length": 683, "protein_name": "Actin-binding LIM protein 3", "gene_name": "ABLIM3", "organism": "Human", "refseq_name": "actin-binding LIM protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001287944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287944", "type": "external" } ], "gene_names_uniprotkb": "ABLIM3; HMFN1661; KIAA0843", "gene_names_refseq": "ABLIM3; HMFN1661", "protein_names_uniprotkb": "Actin-binding LIM protein 3; Actin-binding LIM protein family member 3; abLIM-3", "protein_names_refseq": "abLIM-3; actin-binding LIM protein 3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:22885); (R-HSA-418885)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10995436;11237011;11817894;12149262;15040784;15221005;15494732;15494734;15557120;15788770;15960985;16328021;17081983;17194709;18066058;18077418;18088087;18212043;18253061;18318008;19651622;20166139;24275569;25123307;25576301;25645385;27600516;27862975;28657654;28832583;29557506;29786170;29789417;30429286;31154438;31844290;31848261;32157095;32488085;32502341;32938616;33592498;33968037;33981976;35051231;35318648;35494241;35580925;36284347;38253038;8861902;9950216", "class_list": "", "function": "May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity., [UniProtKB, PubMed]; Results characterize a third member of the actin binding LIM protein subgroup, actin binding LIM protein 3., [RefSeq, PubMed]; This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]., [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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 25, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "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": "A8K121;Q19VH3;Q658S1;Q68CI5;Q9BV32", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051015 actin filament binding;GO:0003779 actin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0030027 lamellipodium;GO:0001725 stress fiber", "go_biological_process": "GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0007010 cytoskeleton organization;GO:0030032 lamellipodium assembly;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O94929-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07108-1", "uniprot_id": [ { "id": "ACBP_HUMAN", "url": "https://www.uniprot.org/uniprot/P07108", "type": "external" } ], "mass": 10044.0, "length": 87, "protein_name": "Acyl-CoA-binding protein", "gene_name": "DBI", "organism": "Human", "refseq_name": "acyl-CoA-binding protein isoform 3", "refseq_ac": [ { "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331", "type": "external" } ], "gene_names_uniprotkb": "DBI", "gene_names_refseq": "ACBD1; ACBP; CCK-RP; DBI; EP", "protein_names_uniprotkb": "Acyl-CoA-binding protein; ACBP; DBI; Diazepam-binding inhibitor; EP; Endozepine", "protein_names_refseq": "acyl coenzyme A binding protein; acyl-CoA-binding protein isoform 3; acyl-CoA-binding protein; acyl-Coenzyme A binding domain containing 1; cholecystokinin-releasing peptide, trypsin-sensitive; diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein); diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein); diazepam-binding inhibitor; endozepine; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); erythrokeratodermia variabilis (Disease Ontology:DOID:0050467); alcohol dependence (Disease Ontology:DOID:0050741); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); atrial fibrillation (Disease Ontology:DOID:0060224); oculodentodigital dysplasia (Disease Ontology:DOID:0060291); overactive bladder syndrome (Disease Ontology:DOID:0070355); erythrokeratodermia variabilis et progressiva 3 (Disease Ontology:DOID:0080249); autosomal recessive craniometaphyseal dysplasia (Disease Ontology:DOID:0080802); Parkinsonism (Disease Ontology:DOID:0080855); palmoplantar keratoderma and congenital alopecia 1 (Disease Ontology:DOID:0111244); syndactyly type 3 (Disease Ontology:DOID:0111817); hypertension (Disease Ontology:DOID:10763); amnestic disorder (Disease Ontology:DOID:10914); urethral obstruction (Disease Ontology:DOID:12577); Huntington's disease (Disease Ontology:DOID:12858); cardiovascular system disease (Disease Ontology:DOID:1287); dilated cardiomyopathy (Disease Ontology:DOID:12930); renovascular hypertension (Disease Ontology:DOID:1591); impotence (Disease Ontology:DOID:1875); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); morphine dependence (Disease Ontology:DOID:2560); high grade glioma (Disease Ontology:DOID:3070); ischemia (Disease Ontology:DOID:326); palmoplantar keratosis (Disease Ontology:DOID:3390); borna disease (Disease Ontology:DOID:5154); myocardial infarction (Disease Ontology:DOID:5844); tetralogy of Fallot (Disease Ontology:DOID:6419); pulmonary hypertension (Disease Ontology:DOID:6432); autoimmune thyroiditis (Disease Ontology:DOID:7188); myocarditis (Disease Ontology:DOID:820); type 2 diabetes mellitus (Disease Ontology:DOID:9352); hypoplastic left heart syndrome (Disease Ontology:DOID:9955)", "pathway": " (hsa:1622); (R-HSA-77289)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "11696000;12665801;12882974;1292782;15638818;16055366;16423998;16934754;16940157;17044054;17762044;17953517;18083107;18194441;18268358;19170545;19608861;20068231;20338778;20345851;20470824;21237683;21698759;21908771;22465940;22586271;22871024;23700546;23901139;24080521;24714562;24732803;25002576;25502872;25576301;25802875;26290611;28467828;2881742;28871256;28904123;29192674;29557506;3020548;31844290;32157095;32350084;32357974;32488085;32705487;33214551;33592498;33936100;33968037;34019948;34078123;34357683;34433824;35051231;35154160;35251023;3525533;35318648;35587082;36010968;36280213;37120445;37357988;38253038;39242519;40596516;4721607;7534063;8241273", "class_list": "", "function": "Acyl coenzyme A binding protein (ACBP): An aging- and disease-relevant 'autophagy checkpoint'. Review article, [RefSeq, PubMed]; Acyl-CoA binding protein (ACBP) is highly expressed in the developing human kidney., [RefSeq, PubMed]; Acyl-coenzyme a binding protein (ACBP) - a risk factor for cancer diagnosis and an inhibitor of immunosurveillance. Erratum:[Mol Cancer. 2024 Oct 17;23(1):231. doi: 10.1186/s12943-024-02152-2. PMID: 39420364] Publication Status: Online-Only, [RefSeq, PubMed]; Binds medium- and long-chain acyl-CoA esters with very high affinity and may function as an intracellular carrier of acyl-CoA esters. It is also able to displace diazepam from the benzodiazepine (BZD) recognition site located on the GABA type A receptor. It is therefore possible that this protein also acts as a neuropeptide to modulate the action of the GABA receptor., [UniProtKB]; Results identify new acyl-CoA binding protein transcripts in human and mouse tissues, generated by alternative first exon usage., [RefSeq, PubMed]; Serum DBI and biomarkers of neuroinflammation in Alzheimer's disease and delirium., [RefSeq, PubMed]; Targeting fatty acid oxidation via Acyl-CoA binding protein hinders glioblastoma invasion. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [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, "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": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 34, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B8ZWD2;B8ZWD6;B8ZWD7;P08869;Q4VWZ6;Q53SQ7;Q6IB48;Q9UCI8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0000062 fatty-acyl-CoA binding;GO:0030156 benzodiazepine receptor binding;GO:0036042 long-chain fatty acyl-CoA binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome;GO:0097038 perinuclear endoplasmic reticulum", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0036151 phosphatidylcholine acyl-chain remodeling;GO:2001140 positive regulation of phospholipid transport", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P07108-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19652-1", "uniprot_id": [ { "id": "A1AG2_HUMAN", "url": "https://www.uniprot.org/uniprot/P19652", "type": "external" } ], "mass": 23603.0, "length": 201, "protein_name": "Alpha-1-acid glycoprotein 2", "gene_name": "ORM2", "organism": "Human", "refseq_name": "alpha-1-acid glycoprotein 2 precursor", "refseq_ac": [ { "id": "NP_000599", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000599", "type": "external" } ], "gene_names_uniprotkb": "ORM2; AGP2", "gene_names_refseq": "AGP-B'; AGP-B; AGP2; ORM2", "protein_names_uniprotkb": "Alpha-1-acid glycoprotein 2; AGP 2; OMD 2; Orosomucoid-2", "protein_names_refseq": "AGP 2; OMD 2; alpha-1-acid glycoprotein 2 precursor; alpha-1-acid glycoprotein 2; alpha-1-acid glycoprotein, type 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5005); (R-HSA-114608); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "1435334;14630798;14760718;15084671;15253437;15297306;1567356;16335952;19159218;19838169;21349832;22171320;23090970;23640497;23650620;24530628;2822385;29391424;29557506;29632711;29671580;2970990;29741879;30600953;32125861;32983136;34963738;36198834;36501194;37074911;4603214;6457647;7240157;7263664;728395;7380009;8467233;8692836;9740055", "class_list": "", "function": "Diagnostic role of plasma ORM2 in differentiating prostate cancer from benign prostatic hyperplasia., [RefSeq, PubMed]; Functions as a transport protein in the blood stream. Binds various hydrophobic ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability. Appears to function in modulating the activity of the immune system during the acute-phase reaction., [UniProtKB, PubMed]; Influence of Intrauterine Inflammation, Delivery, and Postnatal Feeding on the Temporal Changes of Serum Alpha 1 Acid Glycoprotein Levels in Extremely-Low-Birth-Weight Infants. Publication Status: Online-Only, [RefSeq, PubMed]; Orosomucoid in liver diseases., [RefSeq, PubMed]; This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008]., [RefSeq]; Urinary ORM-2 and sCD14 levels were increased in patients with Rheumatoid Arthritis and were correlated with the disease activity., [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 9, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 148, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2R5L2;Q16571;Q5T538;Q6IB74", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031093 platelet alpha granule lumen;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0006953 acute-phase response;GO:0002682 regulation of immune system process;GO:0032760 positive regulation of tumor necrosis factor production;GO:0032731 positive regulation of interleukin-1 beta production;GO:0032732 positive regulation of interleukin-1 production", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "P19652-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21589-1", "uniprot_id": [ { "id": "5NTD_HUMAN", "url": "https://www.uniprot.org/uniprot/P21589", "type": "external" } ], "mass": 63368.0, "length": 574, "protein_name": "5'-nucleotidase", "gene_name": "NT5E", "organism": "Human", "refseq_name": "5'-nucleotidase isoform 2 preproprotein", "refseq_ac": [ { "id": "NP_001191742", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191742", "type": "external" } ], "gene_names_uniprotkb": "NT5E; NT5; NTE", "gene_names_refseq": "CALJA; CD73; E5NT; NT5E; NT5; NTE; NT; eNT; eN", "protein_names_uniprotkb": "5'-nucleotidase; 3.1.3.35; 3.1.3.5; 3.1.3.89; 3.1.3.91; 3.1.3.99; 5'-NT; 5'-deoxynucleotidase; Ecto-5'-nucleotidase; IMP-specific 5'-nucleotidase; Thymidylate 5'-phosphatase", "protein_names_refseq": "5'-NT; 5'-deoxynucleotidase; 5'-nucleotidase isoform 2 preproprotein; IMP-specific 5'-nucleotidase; Purine 5-Prime-Nucleotidase; ecto-5'-nucleotidase; thymidylate 5'-phosphatase", "tax_id": 9606, "disease": "hereditary arterial and articular multiple calcification syndrome (Disease Ontology:DOID:0111582); status epilepticus (Disease Ontology:DOID:1824)", "pathway": " (hsa:4907); (R-HSA-196807); (R-HSA-73621); (R-HSA-74259); (R-HSA-9660826)", "pathway_count": 5, "publication_count": 160, "publication_id_list": "10.1101/2023.09.13.557529;10075721;10331643;10364222;10613898;10681516;10766785;10899995;10989446;11083867;11133996;11237011;11248244;11278832;11313357;11594753;11690631;11788603;11866528;11991719;12124385;12352955;12359228;12547821;12574164;12750059;12790796;12849978;12947102;13563527;14516279;14725767;14966140;15090606;15137942;15381699;15385443;15674325;1590793;16118205;16303743;1637327;16377327;16690024;17234634;17301077;17402747;17405878;17604275;17641676;17868694;17914902;18411268;19159218;19291308;19349973;19470646;19531469;20018850;20081199;20388704;2104852;21288095;2129526;21504897;2157703;21699903;2173922;21933152;21994945;22701565;22822066;22997138;23090970;23142347;23203137;23212377;23230272;2344353;23481700;23817414;23878142;24190977;24260472;24717514;24847004;24887587;25108359;25531177;25892735;26116704;26811146;26992070;27600516;27846572;27893789;28228285;2826576;28467828;2848805;28904123;29242379;29557506;3029074;3036115;30429286;30573663;30779550;30833945;31154438;31592495;31844290;32157095;32350084;32357974;32488085;32906142;32938616;33087354;33214551;33592498;33912179;33968037;33981976;34019948;34078123;34171305;34185709;34357683;34403084;34932366;35051231;35154160;35561310;35580925;36010968;36215666;36241641;37074911;37938771;38665916;38941889;38978304;39090604;39302247;39423241;4349867;6771276;7284378;7488099;8083224;8182091;8289818;8527488;8566797;8575745;8670112;8809081;9473669;9718352", "class_list": "", "function": "CD73 promotes non-small cell lung cancer metastasis by regulating Axl signaling independent of GAS6., [RefSeq, PubMed]; Catalyzes the hydrolysis of nucleotide monophosphates, releasing inorganic phosphate and the corresponding nucleoside, with AMP being the preferred substrate (PubMed:21933152, PubMed:22997138, PubMed:23142347, PubMed:24887587, PubMed:34403084). Shows a preference for ribonucleotide monophosphates over their equivalent deoxyribose forms (PubMed:34403084). Other substrates include IMP, UMP, GMP, CMP, dAMP, dCMP, dTMP, NAD and NMN (PubMed:21933152, PubMed:22997138, PubMed:23142347, PubMed:24887587, PubMed:34403084)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; High levels of soluble CD73 unveil resistance to BRAF inhibitors in melanoma cells., [RefSeq, PubMed]; Regulation of CD73 on NAD metabolism: Unravelling the interplay between tumour immunity and tumour metabolism. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The immunomodulatory ballet of tumour-derived extracellular vesicles and neutrophils orchestrating the dynamic CD73/PD-L1 pathway in cancer., [RefSeq, PubMed]; The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "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": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 25, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KQI8;O75520;Q5W116", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "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": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.91", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.91", "type": "external" }, { "id": "3.1.3.89", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.89", "type": "external" }, { "id": "3.1.3.99", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.99", "type": "external" }, { "id": "3.1.3.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.35", "type": "external" }, { "id": "2.7.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.77", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0000166 nucleotide binding;GO:0008253 5'-nucleotidase activity;GO:0002953 5'-deoxynucleotidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0046032 ADP catabolic process;GO:0006196 AMP catabolic process;GO:0007159 leukocyte cell-cell adhesion;GO:0031214 biomineral tissue development;GO:0055074 calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "P21589-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28221-1", "uniprot_id": [ { "id": "5HT1D_HUMAN", "url": "https://www.uniprot.org/uniprot/P28221", "type": "external" } ], "mass": 41907.0, "length": 377, "protein_name": "5-hydroxytryptamine receptor 1D", "gene_name": "HTR1D", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 1D", "refseq_ac": [ { "id": "NP_000855", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000855", "type": "external" } ], "gene_names_uniprotkb": "HTR1D; HTR1DA; HTRL", "gene_names_refseq": "5-HT1D; HT1DA; HTR1DA; HTR1D; HTRL; RDC4", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 1D; 5-HT-1D-alpha; 5-HT-1D; 5-HT1D; Serotonin 1D alpha receptor; Serotonin receptor 1D", "protein_names_refseq": "5-HT-1D-alpha; 5-HT-1D; 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled; 5-hydroxytryptamine receptor 1D; serotonin 1D alpha receptor; serotonin receptor 1D", "tax_id": 9606, "disease": "generalized anxiety disorder (Disease Ontology:DOID:14320)", "pathway": " (hsa:3352); (R-HSA-390666); (R-HSA-418594)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10193663;10391209;10452531;10611634;10715164;11007482;11454652;11512051;11714892;11750183;12120503;12145108;12177684;12388666;12527336;12784105;12860470;1315531;1330647;1386736;1513320;15341484;15357957;15628665;1565658;15689356;15887956;15951850;16330560;1652050;16634148;16923326;1828434;18434541;18476671;18577758;19499624;20518729;20945968;21486038;2534964;2748346;2834384;29769354;3041384;30561038;32488085;33762731;35051231;35785570;35813473;7895773;7937899;8015379;8078486;8143856;8380639;8406495;8522988;8809227;8935801;9048968;9067310;9205951;9303561;9336327;9349523;9495870;9550290;9603189;9651336;9732398;9760039;9851589;9865521;9986723", "class_list": "", "function": "G protein-coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:10452531, PubMed:1565658, PubMed:1652050, PubMed:33762731). Also functions as a receptor for ergot alkaloid derivatives, various anxiolytic and antidepressant drugs and other psychoactive substances (PubMed:10452531, PubMed:1565658, PubMed:1652050, PubMed:33762731). 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:10452531, PubMed:1565658, PubMed:1652050, PubMed:33762731). HTR1D is coupled to G(i)/G(o) G alpha proteins and mediates inhibitory neurotransmission by inhibiting adenylate cyclase activity (PubMed:33762731). Regulates the release of 5-hydroxytryptamine in the brain, and thereby affects neural activity (PubMed:18476671, PubMed:20945968). May also play a role in regulating the release of other neurotransmitters (PubMed:18476671, PubMed:20945968). May play a role in vasoconstriction (PubMed:18476671, PubMed:20945968)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HTR1D functions as a key target of HOXA10-AS/miR-340-3p axis to promote the malignant outcome of pancreatic cancer via PI3K-AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown and inhibition of hydroxytryptamine receptor 1D suppress proliferation and migration of gastric cancer cells., [RefSeq, PubMed]; Significantly promotes hepatocellular carcinoma (HCC) proliferation, epithelial-mesenchymal transition, and metastasis; elevated expression level predicts poor overall survival and high recurrence probability in HCC patients, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "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": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004993 G protein-coupled serotonin receptor activity;GO:0030594 neurotransmitter receptor activity;GO:0001586 Gi/o-coupled serotonin receptor activity;GO:0099589 serotonin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0040012 regulation of locomotion;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0007198 adenylate cyclase-inhibiting serotonin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P28221-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28222-1", "uniprot_id": [ { "id": "5HT1B_HUMAN", "url": "https://www.uniprot.org/uniprot/P28222", "type": "external" } ], "mass": 43568.0, "length": 390, "protein_name": "5-hydroxytryptamine receptor 1B", "gene_name": "HTR1B", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 1B", "refseq_ac": [ { "id": "NP_000854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000854", "type": "external" } ], "gene_names_uniprotkb": "HTR1B; HTR1DB", "gene_names_refseq": "5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB; HTR1B; HTR1D2; HTR1DB; S12", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 1B; 5-HT-1B; 5-HT-1D-beta; 5-HT1B; S12; Serotonin 1D beta receptor; Serotonin receptor 1B", "protein_names_refseq": "5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled; 5-hydroxytryptamine receptor 1B; serotonin 1D beta receptor; serotonin receptor 1B", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); hypertension (Disease Ontology:DOID:10763); antisocial personality disorder (Disease Ontology:DOID:10939); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); conduct disorder (Disease Ontology:DOID:12995); generalized anxiety disorder (Disease Ontology:DOID:14320); major depressive disorder (Disease Ontology:DOID:1470); alcohol use disorder (Disease Ontology:DOID:1574); anxiety disorder (Disease Ontology:DOID:2030); substance abuse (Disease Ontology:DOID:302); ischemia (Disease Ontology:DOID:326); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3351); (R-HSA-390666); (R-HSA-418594)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "10193663;10452531;10611634;10715164;11007482;11454652;11512051;11714892;11750183;12120503;12145108;12177684;12388666;12527336;12784105;12860470;1315531;1328844;1330647;1348246;1351684;1386736;15014171;1513320;15341484;15357957;1559993;15628665;1565658;15689356;15853772;15887956;15951850;1610347;16330560;16634148;16923326;18434541;18476671;18577758;19499624;20518729;20945968;21486038;23519210;23519215;24715725;2534964;2748346;28228285;2834384;29925951;3041384;30459171;35610220;37762136;38050328;38760456;39183370;7802650;7895773;7937899;8015379;8078486;8143856;8218242;8380639;8406495;8522988;8809227;8935801;9048968;9067310;9205951;9303561;9336327;9349523;9495870;9550290;9603189;9651336;9732398;9760039;9851589;9865521;9986723", "class_list": "", "function": "Association of OPRM1 rs1799971, HTR1B rs6296 and COMT rs4680 polymorphisms with clinical phenotype among women with fibromyalgia. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:10452531, PubMed:1315531, PubMed:1328844, PubMed:1348246, PubMed:1351684, PubMed:1559993, PubMed:1565658, PubMed:1610347, PubMed:23519210, PubMed:23519215, PubMed:29925951, PubMed:8218242). Also functions as a receptor for ergot alkaloid derivatives, various anxiolytic and antidepressant drugs and other psychoactive substances, such as lysergic acid diethylamide (LSD) (PubMed:23519210, PubMed:23519215, PubMed:29925951). 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:10452531, PubMed:1315531, PubMed:1328844, PubMed:1348246, PubMed:1351684, PubMed:1559993, PubMed:1565658, PubMed:1610347, PubMed:23519210, PubMed:23519215, PubMed:29925951, PubMed:8218242). HTR1B is coupled to G(i)/G(o) G alpha proteins and mediates inhibitory neurotransmission by inhibiting adenylate cyclase activity (PubMed:29925951, PubMed:35610220). Arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways (PubMed:29925951). Regulates the release of 5-hydroxytryptamine, dopamine and acetylcholine in the brain, and thereby affects neural activity, nociceptive processing, pain perception, mood and behavior (PubMed:18476671, PubMed:20945968). Besides, plays a role in vasoconstriction of cerebral arteries (PubMed:15853772)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Increased mRNA expression for serotonin receptor 1B (HTR1B) is associated with thrombosis in BCR::ABL1-negative myeloproliferative neoplasms., [RefSeq, PubMed]; Synergistic Interaction of 5-HT1B and 5-HT2B Receptors in Cytoplasmic Ca[2+] Regulation in Human Umbilical Vein Endothelial Cells: Possible Involvement in Pathologies. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this intronless gene is a G-protein coupled receptor for serotonin (5-hydroxytryptamine). Ligand binding activates second messengers that inhibit the activity of adenylate cyclase and manage the release of serotonin, dopamine, and acetylcholine in the brain. The encoded protein may be involved in several neuropsychiatric disorders and therefore is often a target of antidepressant and other psychotherapeutic drugs. [provided by RefSeq, Nov 2015]., [RefSeq]; The rs6296 polymorphism in the 5-HT1b receptor in Dutch men with lifelong premature ejaculation: a genetic case-control association study., [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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q4VAY7", "ec_number_list": [], "go_molecular_function": "GO:0004993 G protein-coupled serotonin receptor activity;GO:0030594 neurotransmitter receptor activity;GO:0051378 serotonin binding;GO:0001586 Gi/o-coupled serotonin receptor activity;GO:0099589 serotonin receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0042734 presynaptic membrane;GO:0099154 serotonergic synapse", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0071466 cellular response to xenobiotic stimulus;GO:0007198 adenylate cyclase-inhibiting serotonin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P28222-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30939-1", "uniprot_id": [ { "id": "5HT1F_HUMAN", "url": "https://www.uniprot.org/uniprot/P30939", "type": "external" } ], "mass": 41709.0, "length": 366, "protein_name": "5-hydroxytryptamine receptor 1F", "gene_name": "HTR1F", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 1F", "refseq_ac": [ { "id": "NP_000857", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000857", "type": "external" } ], "gene_names_uniprotkb": "HTR1F; HTR1EL", "gene_names_refseq": "5-HT-1F; 5-HT1F; 5HT6; HTR1EL; HTR1F; MR77", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 1F; 5-HT-1F; 5-HT1F; Serotonin receptor 1F", "protein_names_refseq": "5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled; 5-hydroxytryptamine receptor 1F; serotonin receptor 1F", "tax_id": 9606, "disease": "generalized anxiety disorder (Disease Ontology:DOID:14320)", "pathway": " (hsa:3355); (R-HSA-390666); (R-HSA-418594)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10193663;10611634;10715164;11007482;11454652;11512051;11714892;11750183;12120503;12145108;12177684;12388666;12527336;12784105;12860470;1315531;1330647;1386736;1513320;15341484;15357957;15628665;1565658;15689356;15887956;15951850;16330560;16634148;16923326;18434541;18476671;18577758;19499624;20518729;20945968;21422162;21486038;2534964;2748346;2834384;3041384;30418433;31542386;32387766;33968037;34239069;34509645;35254053;35610220;7895773;7937899;8015379;8078486;8143856;8380639;8384716;8406495;8522988;8809227;8935801;9048968;9067310;9205951;9303561;9336327;9349523;9495870;9550290;9603189;9651336;9732398;9760039;9851589;9865521;9986723", "class_list": "", "function": "G protein-coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:21422162, PubMed:34239069, PubMed:8380639, PubMed:8384716). Also functions as a receptor for various alkaloids and psychoactive substances (PubMed:21422162, PubMed:8380639, PubMed:8384716). Receptor for lasmiditan, a drug for the treatment of acute migraine (PubMed:34239069). 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:34239069). HTR1F is coupled to G(i)/G(o) G alpha proteins and mediates inhibitory neurotransmission by inhibiting adenylate cyclase activity (PubMed:34239069, PubMed:35610220)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Stimulation of 5-HT1F receptor is involved in mitochondrial biogenesis in endothelial cells., [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": 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": 0, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004993 G protein-coupled serotonin receptor activity;GO:0030594 neurotransmitter receptor activity;GO:0051378 serotonin binding;GO:0001586 Gi/o-coupled serotonin receptor activity;GO:0099589 serotonin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0007198 adenylate cyclase-inhibiting serotonin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "P30939-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41595-1", "uniprot_id": [ { "id": "5HT2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P41595", "type": "external" } ], "mass": 54298.0, "length": 481, "protein_name": "5-hydroxytryptamine receptor 2B", "gene_name": "HTR2B", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 2B isoform 1", "refseq_ac": [ { "id": "NP_000858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000858", "type": "external" } ], "gene_names_uniprotkb": "HTR2B", "gene_names_refseq": "5-HT(2B); 5-HT-2B; 5-HT2B; HTR2B", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 2B; 5-HT-2B; 5-HT2B; Serotonin receptor 2B", "protein_names_refseq": "5-HT 2B receptor; 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled; 5-hydroxytryptamine 2B receptor; 5-hydroxytryptamine receptor 2B isoform 1; serotonin receptor 2B", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); generalized anxiety disorder (Disease Ontology:DOID:14320); brain infarction (Disease Ontology:DOID:3454); heart valve disease (Disease Ontology:DOID:4079); congestive heart failure (Disease Ontology:DOID:6000); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:3357); (R-HSA-390666); (R-HSA-416476)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "10191087;10193663;10567430;10611634;10715164;10722792;10727532;10861009;11015615;11150294;11454652;11512051;11714892;11742120;11750183;11753430;12120503;12145108;12177684;12388666;12527336;12784105;12860470;12970106;1315531;1330647;1386736;1513320;15341484;15357957;15628665;1565658;15689356;15887956;15951850;16182515;16268778;16330560;16339447;16754659;16923326;18434541;18476671;18515384;18577758;18703043;18936096;1905813;19499624;20518729;20945968;21179162;21486038;23519210;23519215;24357322;28129538;2841328;30127358;3041384;3086311;31154438;31848261;32488085;36087581;38037454;38381131;38578894;7895773;7926008;7937899;8078486;8143856;8380639;8522988;8664309;8809227;8882600;8935801;9048968;9067310;9205951;9303561;9305846;9336327;9349523;9495870;9550290;9603189;9651336;9732398;9760039;9770463;9851589;9865521;9986723", "class_list": "", "function": "G protein-coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:18703043, PubMed:23519210, PubMed:7926008, PubMed:8078486, PubMed:8143856, PubMed:8882600). Also functions as a receptor for various ergot alkaloid derivatives and psychoactive substances (PubMed:12970106, PubMed:18703043, PubMed:23519210, PubMed:23519215, PubMed:24357322, PubMed:28129538, PubMed:30127358, PubMed:36087581, PubMed:7926008, PubMed:8078486, PubMed:8143856). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:23519215, PubMed:28129538, PubMed:8078486, PubMed:8143856, PubMed:8882600). HTR2B is coupled to G(q)/G(11) G alpha proteins and activates phospholipase C-beta, releasing diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) second messengers that modulate the activity of phosphatidylinositol 3-kinase and promote the release of Ca(2+) ions from intracellular stores, respectively (PubMed:18703043, PubMed:23519215, PubMed:28129538, PubMed:30127358, PubMed:36087581, PubMed:8078486, PubMed:8143856, PubMed:8882600). Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways (PubMed:23519215, PubMed:28129538, PubMed:30127358, PubMed:36087581). Plays a role in the regulation of dopamine and 5-hydroxytryptamine release, 5-hydroxytryptamine uptake and in the regulation of extracellular dopamine and 5-hydroxytryptamine levels, and thereby affects neural activity. May play a role in the perception of pain (By similarity). Plays a role in the regulation of behavior, including impulsive behavior (PubMed:21179162). Required for normal proliferation of embryonic cardiac myocytes and normal heart development (By similarity). Protects cardiomyocytes against apoptosis (By similarity). Plays a role in the adaptation of pulmonary arteries to chronic hypoxia (By similarity). Plays a role in vasoconstriction (By similarity). Required for normal osteoblast function and proliferation, and for maintaining normal bone density (By similarity). Required for normal proliferation of the interstitial cells of Cajal in the intestine (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Neurotransmitter Receptor HTR2B Regulates Lipid Metabolism to Inhibit Ferroptosis in Gastric Cancer., [RefSeq, PubMed]; Serotonin Receptor HTR2B Facilitates Colorectal Cancer Metastasis via CREB1-ZEB1 Axis-Mediated Epithelial-Mesenchymal Transition., [RefSeq, PubMed]; The 5HT2b Receptor in Alzheimer's Disease: Increased Levels in Patient Brains and Antagonist Attenuation of Amyloid and Tau Induced Dysfunction., [RefSeq, PubMed]; This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin receptors mediate many of the central and peripheral physiologic functions of serotonin, including regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a minor allele (glutamine-to-stop substitution, designated Q20*) which blocks expression of this protein, and knockout studies in mice, suggest a role for this gene in impulsivity. However, other factors, such as elevated testosterone levels, may also be involved. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]., [RefSeq]", "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": 1, "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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 22, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R9D5;Q53TI1;Q62221;Q6P523", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0004993 G protein-coupled serotonin receptor activity;GO:0030594 neurotransmitter receptor activity;GO:0051378 serotonin binding;GO:0001965 G-protein alpha-subunit binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0019722 calcium-mediated signaling;GO:0043066 negative regulation of apoptotic process;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "P41595-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31947-1", "uniprot_id": [ { "id": "1433S_HUMAN", "url": "https://www.uniprot.org/uniprot/P31947", "type": "external" } ], "mass": 27774.0, "length": 248, "protein_name": "14-3-3 protein sigma", "gene_name": "SFN", "organism": "Human", "refseq_name": "14-3-3 protein sigma", "refseq_ac": [ { "id": "NP_006133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006133", "type": "external" } ], "gene_names_uniprotkb": "SFN; HME1", "gene_names_refseq": "SFN; YWHAS", "protein_names_uniprotkb": "14-3-3 protein sigma; Epithelial cell marker protein 1; Stratifin", "protein_names_refseq": "14-3-3 protein sigma; epithelial cell marker protein 1", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059); urinary bladder cancer (Disease Ontology:DOID:11054); vulva squamous cell carcinoma (Disease Ontology:DOID:2101); ovarian cancer (Disease Ontology:DOID:2394); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial carcinoma (Disease Ontology:DOID:2871); in situ carcinoma (Disease Ontology:DOID:8719)", "pathway": " (hsa:2810); (R-HSA-111447); (R-HSA-1445148); (R-HSA-5625740); (R-HSA-5628897); (R-HSA-6804114); (R-HSA-75035); (R-HSA-9614399); (R-HSA-9735871); (R-HSA-9755779); (R-HSA-9968551)", "pathway_count": 11, "publication_count": 211, "publication_id_list": "10.1101/2023.09.13.557529;10102273;10195903;10329961;10330186;10358075;10435585;10524633;10619026;10716435;10745013;10753910;10924361;10949026;10980602;11029283;11034341;11134534;11237865;11313932;11331307;11340051;11486029;11545734;11574543;11697890;11942626;11959846;12161445;12203114;12438239;12453409;12657644;12714747;12766774;12783890;1286667;12869586;12906785;13298683;13538944;1390337;14514689;14651849;14701673;15003508;15071501;15105503;15184667;15186775;15223;15282546;15574328;15589136;15660102;15731107;15791647;15919790;15971998;16103198;16114898;16140933;16272144;16413492;16636147;16728594;16760263;16772293;16839880;16880201;16964243;16998888;17172876;17244620;17298220;17301291;17306213;17369524;17486094;17540029;17719541;17947532;17995453;18006505;18055455;18198340;18344994;18382127;18669648;18691976;18692468;19013499;19113821;19172738;19220809;19252894;19415658;19416966;19439913;19487573;19592491;19640509;19723632;19822145;20068231;20080666;20154085;20182617;20351271;20378837;20460379;20478047;20631154;20701589;20837646;20937701;21351730;21454505;21454690;21625211;21749319;21750704;21907143;21958598;22363791;22634725;23186163;23485469;23572552;23775793;24066844;24096481;24124604;24128008;24366874;24383451;24718924;25271362;2550440;25576301;25579166;26047703;26147002;26154972;26652033;27600516;28202711;29242379;29393594;29557506;29678907;30397120;31217245;31717259;31844290;32157095;32161166;32329246;32350084;32387766;32897882;32938616;32983136;33147444;33159816;33214551;33465208;33556408;33592498;33691108;33717175;33968037;34019948;34171305;34509645;34513728;34725712;34932366;35051231;35126886;35132862;35251023;35318648;35561310;35580925;36010968;36195613;36215666;36241641;36284347;37797010;37938771;38490326;38986830;40596516;5666113;7784094;7973727;7979252;7989588;8094051;8119488;8515476;8662509;8664345;9278512;9354661;9659898;9889122;9926927;9988689", "class_list": "", "function": "Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways (PubMed:15731107, PubMed:22634725, PubMed:28202711, PubMed:37797010). Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif (PubMed:15731107, PubMed:22634725, PubMed:28202711, PubMed:37797010). Binding generally results in the modulation of the activity of the binding partner (PubMed:15731107, PubMed:22634725, PubMed:28202711, PubMed:37797010). Promotes cytosolic retention of GBP1 GTPase by binding to phosphorylated GBP1, thereby inhibiting the innate immune response (PubMed:37797010). Also acts as a TP53/p53-regulated inhibitor of G2/M progression (PubMed:9659898). When bound to KRT17, regulates protein synthesis and epithelial cell growth by stimulating Akt/mTOR pathway (By similarity). Acts to maintain desmosome cell junction adhesion in epithelial cells via interacting with and sequestering PKP3 to the cytoplasm, thereby restricting its translocation to existing desmosome structures and therefore maintaining desmosome protein homeostasis (PubMed:24124604). Also acts to facilitate PKP3 exchange at desmosome plaques, thereby maintaining keratinocyte intercellular adhesion (PubMed:29678907). May also regulate MDM2 autoubiquitination and degradation and thereby activate p53/TP53 (PubMed:18382127)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SFN promotes renal fibrosis via binding with MYH9 in chronic kidney disease., [RefSeq, PubMed]; Stratifin as a novel diagnostic biomarker in serum for diffuse alveolar damage. Publication Status: Online-Only, [RefSeq, PubMed]; Stratifin promotes the malignant progression of HCC via binding and hyperactivating AKT signaling., [RefSeq, PubMed]; This gene encodes a cell cycle checkpoint protein. The encoded protein binds to translation and initiation factors and functions as a regulator of mitotic translation. In response to DNA damage this protein plays a role in preventing DNA errors during mitosis. [provided by RefSeq, Aug 2017]., [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": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6FH30;Q6FH51;Q96DH0", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0050815 phosphoserine residue binding;GO:0045296 cadherin binding;GO:0008426 protein kinase C inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007165 signal transduction;GO:0030307 positive regulation of cell growth;GO:0045785 positive regulation of cell adhesion;GO:0061436 establishment of skin barrier;GO:0006469 negative regulation of protein kinase activity", "synthesized_glycan_count": 0, "hit_score": 21.7, "record_id": "P31947-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H172-1", "uniprot_id": [ { "id": "ABCG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H172", "type": "external" } ], "mass": 71896.0, "length": 646, "protein_name": "ATP-binding cassette sub-family G member 4", "gene_name": "ABCG4", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family G member 4 isoform a", "refseq_ac": [ { "id": "NP_001135977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135977", "type": "external" } ], "gene_names_uniprotkb": "ABCG4; WHITE2", "gene_names_refseq": "ABCG4; WHITE2", "protein_names_uniprotkb": "ATP-binding cassette sub-family G member 4; 7.6.2.-", "protein_names_refseq": "ATP-binding cassette sub-family G member 4 isoform a; ATP-binding cassette, sub-family G (WHITE), member 4; putative ABC transporter", "tax_id": 9606, "disease": "", "pathway": " (hsa:64137); (R-HSA-1369062)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10551832;10704444;10777694;10873640;11095984;11099417;11178988;11237011;11248239;11309290;11478798;11606068;11718719;11856881;12150964;12183068;12504089;12509503;12821155;12917409;14570867;14592415;15007061;15044640;15209530;15240127;15994327;16007253;23481700;24831815;27228027;27920218;28904123;29242379;29393594;30834613;31159502;32387766;33141061;33912179;33968037;35051231;35580925;36241641;8411712;8507690;8706931;9345306", "class_list": "", "function": "ABCG4 is expressed specifically in the brain and the eye., [RefSeq, PubMed]; ABCG4 may be involved in macrophage lipid homeostasis., [RefSeq, PubMed]; ATP-dependent transporter of the ATP-binding cassette (ABC) family that may be involved in the cellular efflux of sterols, in particular cholesterol and desmosterol (a cholesterol precursor), to high-density lipoprotein (HDL) (PubMed:15240127, PubMed:33141061). May play an important role in the removal of amyloid-beta peptides from brain, in a process that can be antagonized by desmosterol. However it is unclear whether ABCG4 can directly transport amyloid-beta peptides or whether peptide export may be facilitated due to changes in the membrane lipid environment (By similarity). Induces apoptosis in various cells (PubMed:27228027)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Alix serves as a co-factor for the interaction between the E3-ubiquitin ligase NEDD4-1 and the ABC transporter targets, ABCG1 and ABCG4. Publication Status: Online-Only, [RefSeq, PubMed]; Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4: maps to human chromosome 11, is expressed abundantly in brain, and has alternatively-spliced isoforms, [RefSeq, PubMed]; Intriguingly, DU-145 cells with stably depleted ABCG4 levels not only significantly delayed the development of the tumor but also greatly sensitized the tumor to a low dose of doxorubicin that resulted in complete tumor regression. Collectively, this data reinforces a novel function of ABCG4 in doxorubicin-mediated chemoresistance, and as a potential therapeutic target in drug-induced prostate cancer chemoresistance., [RefSeq, PubMed]; Regulation of ABCG4 transporter expression by sterols and LXR ligands. Erratum:[Biochim Biophys Acta Gen Subj. 2022 Aug;1866(8):130169. doi: 10.1016/j.bbagen.2022.130169. PMID: 35599093], [RefSeq, PubMed]; The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. 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). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]., [RefSeq]", "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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K1B5;Q8WWH0;Q8WWH1;Q8WWH2", "ec_number_list": [ { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "7.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.2", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle;GO:0010008 endosome membrane;GO:0016020 membrane", "go_biological_process": "GO:0010875 positive regulation of cholesterol efflux;GO:0055085 transmembrane transport;GO:0006355 regulation of DNA-templated transcription;GO:0033344 cholesterol efflux;GO:0042632 cholesterol homeostasis", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9H172-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35609-1", "uniprot_id": [ { "id": "ACTN2_HUMAN", "url": "https://www.uniprot.org/uniprot/P35609", "type": "external" } ], "mass": 103854.0, "length": 894, "protein_name": "Alpha-actinin-2", "gene_name": "ACTN2", "organism": "Human", "refseq_name": "alpha-actinin-2 isoform 1", "refseq_ac": [ { "id": "NP_001094", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094", "type": "external" } ], "gene_names_uniprotkb": "ACTN2", "gene_names_refseq": "ACTN2; CMD1AA; CMH23; CMYO8; CMYP8; MPD6; MYOCOZ", "protein_names_uniprotkb": "Alpha-actinin-2; Alpha-actinin skeletal muscle isoform 2; F-actin cross-linking protein", "protein_names_refseq": "F-actin cross-linking protein; alpha-actinin skeletal muscle; alpha-actinin-2 isoform 1", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); congenital myopathy 8 (Disease Ontology:DOID:0081342); dilated cardiomyopathy 1AA (Disease Ontology:DOID:0110428); focal segmental glomerulosclerosis 1 (Disease Ontology:DOID:0111128); myopathy, distal, 6, adult-onset, autosomal dominant (MONDO:MONDO:0032853)", "pathway": " (hsa:88); (R-HSA-114608); (R-HSA-373753); (R-HSA-390522); (R-HSA-438066); (R-HSA-442982); (R-HSA-5673001); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244)", "pathway_count": 10, "publication_count": 145, "publication_id_list": "10373510;10393930;10427098;10481917;10508167;10541305;10548523;10611248;10747208;10869344;10984498;11027663;11090077;11114196;11136978;11171996;11237011;11313946;11340081;11470434;11546808;11562357;11573089;11702783;11733557;11842093;12032311;12094235;12121613;12660326;12668668;12807427;12815021;12846735;12865409;1339456;1435334;14506247;14567970;14570703;14622581;14630798;14633607;14707138;15159419;15297306;15331416;15356145;1545823;15545998;15546878;15579503;15634346;15843475;15994232;16525419;16543952;16627759;16630808;16684964;17046827;1716764;17855605;17893108;17923684;17997397;17998941;18033240;18775330;1898771;19279408;19443634;19920141;19932097;20022194;20068231;20233749;20478380;20554076;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;22972877;23103841;23271734;23303910;23443682;23575685;23640497;24897931;24937142;25173926;25219551;25224718;25781681;26085527;28449373;28778966;29351928;29557506;29605689;30379171;30590034;30701273;30900782;31135801;31844290;32157095;32387766;32938616;32983136;33592498;33968037;34509645;35008409;35051231;35154160;35251023;35580925;36215666;36241641;37271035;37834023;38311799;38990270;6148751;6457647;7809086;7935463;7972015;8052307;8394845;8467233;8493579;8665852;8710374;8939933;9604935;9648857;9927426", "class_list": "", "function": "Actn2 defects accelerates H9c2 hypertrophy via ERK phosphorylation under chronic stress., [RefSeq, PubMed]; Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]., [RefSeq]; Cardiomyopathy-associated variants alter the structure and function of the alpha-actinin-2 actin-binding domain., [RefSeq, PubMed]; Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2. Publication Status: Online-Only, [RefSeq, PubMed]; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein., [UniProtKB]; Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B1ANE4;B2RCS5;Q86TF4;Q86TI8", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0005178 integrin binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098871 postsynaptic actin cytoskeleton;GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0007155 cell adhesion;GO:0042391 regulation of membrane potential;GO:0072659 protein localization to plasma membrane;GO:0043268 positive regulation of potassium ion transport;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "P35609-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01019-1", "uniprot_id": [ { "id": "ANGT_HUMAN", "url": "https://www.uniprot.org/uniprot/P01019", "type": "external" } ], "mass": 52070.0, "length": 476, "protein_name": "Angiotensinogen", "gene_name": "AGT", "organism": "Human", "refseq_name": "angiotensinogen precursor", "refseq_ac": [ { "id": "NP_001369746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001369746", "type": "external" } ], "gene_names_uniprotkb": "AGT; SERPINA8", "gene_names_refseq": "AGT; ANHU; SERPINA8; hFLT1", "protein_names_uniprotkb": "Angiotensinogen; Ang III; Ang II; Ang IV; Ang I; Angiotensin 1-10; Angiotensin 1-8; Angiotensin 2-8; Angiotensin 3-8; Angiotensin III; Angiotensin II; Angiotensin IV; Angiotensin I; Des-Asp[1]-angiotensin II; Serpin A8", "protein_names_refseq": "alpha-1 antiproteinase, antitrypsin; angiotensin II; angiotensinogen precursor; fetal-liver predominant transporter 1; pre-angiotensinogen; serine (or cysteine) proteinase inhibitor; serpin A8; serpin peptidase inhibitor, clade A, member 8", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831); coarctation of the aorta (Disease Ontology:DOID:0051054); stroke (Disease Ontology:DOID:0051061); atrial fibrillation (Disease Ontology:DOID:0060224); polycystic kidney disease (Disease Ontology:DOID:0080322); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); essential hypertension (Disease Ontology:DOID:10825); meconium aspiration syndrome (Disease Ontology:DOID:11049); hydronephrosis (Disease Ontology:DOID:11111); IgA vasculitis (Disease Ontology:DOID:11123); pulmonary edema (Disease Ontology:DOID:11396); sciatic neuropathy (Disease Ontology:DOID:11446); prediabetes syndrome (Disease Ontology:DOID:11716); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); allergic disease (Disease Ontology:DOID:1205); otosclerosis (Disease Ontology:DOID:12185); primary biliary cholangitis (Disease Ontology:DOID:12236); alcoholic hepatitis (Disease Ontology:DOID:12351); cardiovascular system disease (Disease Ontology:DOID:1287); dilated cardiomyopathy (Disease Ontology:DOID:12930); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372); sick sinus syndrome (Disease Ontology:DOID:13884); Fabry disease (Disease Ontology:DOID:14499); diffuse scleroderma (Disease Ontology:DOID:1580); breast cancer (Disease Ontology:DOID:1612); impotence (Disease Ontology:DOID:1875); atherosclerosis (Disease Ontology:DOID:1936); hyperinsulinism (Disease Ontology:DOID:2018); transient cerebral ischemia (Disease Ontology:DOID:224); multiple sclerosis (Disease Ontology:DOID:2377); glomerulonephritis (Disease Ontology:DOID:2921); temporal lobe epilepsy (Disease Ontology:DOID:3328); carotid artery disease (Disease Ontology:DOID:3407); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary fibrosis (Disease Ontology:DOID:3770); systemic scleroderma (Disease Ontology:DOID:418); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); cerebrovascular disease (Disease Ontology:DOID:6713); chronic myeloid leukemia (Disease Ontology:DOID:8552); intermediate coronary syndrome (Disease Ontology:DOID:8805); skin melanoma (Disease Ontology:DOID:8923); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); mitral valve prolapse (Disease Ontology:DOID:988); obesity (Disease Ontology:DOID:9970); renal tubular dysgenesis of genetic origin (MONDO:MONDO:0009970)", "pathway": " (hsa:183); (R-HSA-1989781); (R-HSA-2022377); (R-HSA-375276); (R-HSA-416476); (R-HSA-418594)", "pathway_count": 6, "publication_count": 222, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10536878;10567430;10604470;10619573;10727532;10777541;10854085;10861009;10899166;10899625;10924499;10969042;11007482;11015615;11237011;11267664;1132082;11322507;11385580;11457843;11502696;11562423;11683476;11742120;11753430;11773063;11815627;12045255;12118000;12120503;12177166;12427552;12505311;12540846;12540854;12582161;12719537;12752436;1280419;12927775;12956774;1314587;1317848;1325670;1337145;1346068;1394429;14463577;14550283;14573733;14747736;15067378;15130092;15139756;15283675;15539556;15635043;1567413;15947423;15951850;16116425;16182515;16268778;16335952;16339447;16380219;1655761;16634148;1668266;16754659;16790432;1692023;16923326;16972786;1710450;1710578;17138938;1719979;1722333;17704566;18127230;18434541;1847994;1848554;1851160;18515384;18540824;18566446;18577758;18719978;18793332;18848529;18936096;1905813;19088433;19159218;19710929;19800993;19934321;20110263;20369886;20380117;20889553;20927107;22193701;22299025;2266130;23446738;23690594;24141856;24196956;2443571;24906252;25177259;2534964;2558510;2649896;2708524;2748346;27496565;2834384;2841328;2846041;2885106;2924688;29632711;3017438;30315122;3086311;3202875;3366244;3525564;3579322;383475;38492325;3856870;38622720;39127136;3934016;4289389;4300938;4322712;4322742;4330891;4360430;6089875;6269175;6270633;6274691;6281660;6303766;6373251;6589611;6807977;7057924;7259779;7524088;7539791;7590751;7592910;7592911;7607642;7624359;7685352;7744780;7797512;7892212;7905839;7937899;7980644;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8513325;8615752;8621667;8647822;8664309;8666380;8702752;873923;8823230;9012850;9169443;9171878;9305846;9492317;9521323;9530155;9570564;9593744;9607765;9685625;9722565;9748239;9770463;9792798;9832121;9851594", "class_list": "", "function": "Acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone (PubMed:10619573, PubMed:17138938). Acts by binding to angiotensin receptors AGTR1 and AGTR2 (PubMed:1567413). Also binds the DEAR/FBXW7-AS1 receptor (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Glaucoma and the ocular renin-angiotensin-aldosterone system: Update on molecular signalling and treatment perspectives. Review article, [RefSeq, PubMed]; Is a ligand for the G protein-coupled receptor MAS1 (By similarity). Has vasodilator and antidiuretic effects. Has an antithrombotic effect that involves MAS1-mediated release of nitric oxide from platelets (By similarity)., [UniProtKB, UniProtKB]; Is a ligand for the G-protein coupled receptor MAS1. Has vasodilator and antidiuretic effects. Has an antithrombotic effect that involves MAS1-mediated release of nitric oxide from platelets., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Role of Angiotensin II in Non-Alcoholic Steatosis Development. Review article, [RefSeq, PubMed]; Stimulates aldosterone release., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure, body fluid and electrolyte homeostasis, and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Nov 2019]., [RefSeq]; The role of the brain renin-angiotensin system in Parkinson s disease. Review article 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": 1, "mined_n_glycosites": 1, "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": 1, "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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 55, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q16358;Q16359;Q96F91", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0005179 hormone activity;GO:0008083 growth factor activity;GO:0031702 type 1 angiotensin receptor binding;GO:0031703 type 2 angiotensin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0042127 regulation of cell population proliferation;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0001822 kidney development", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "P01019-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29972-1", "uniprot_id": [ { "id": "AQP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P29972", "type": "external" } ], "mass": 28526.0, "length": 269, "protein_name": "Aquaporin-1", "gene_name": "AQP1", "organism": "Human", "refseq_name": "aquaporin-1 isoform 1", "refseq_ac": [ { "id": "NP_932766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_932766", "type": "external" } ], "gene_names_uniprotkb": "AQP1; CHIP28", "gene_names_refseq": "AQP-CHIP; AQP1; CHIP28; CO", "protein_names_uniprotkb": "Aquaporin-1; AQP-1; Aquaporin-CHIP; Channel-like integral membrane protein of 28 kDa; Urine water channel", "protein_names_refseq": "Colton blood group antigen; aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group); aquaporin 1, Colton blood group antigen; aquaporin-1 isoform 1; aquaporin-CHIP; bloodgroup CO protein; channel-like integral membrane protein of 28 kDa; channel-like integral membrane protein, 28-kDa; urine water channel; water channel protein for red blood cells and kidney proximal tubule", "tax_id": 9606, "disease": "autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); hypertension (Disease Ontology:DOID:10763); hydrocephalus (Disease Ontology:DOID:10908); uveitis (Disease Ontology:DOID:13141); retinal vein occlusion (Disease Ontology:DOID:1727); status epilepticus (Disease Ontology:DOID:1824); brain edema (Disease Ontology:DOID:4724); central pontine myelinolysis (Disease Ontology:DOID:636); diabetes mellitus (Disease Ontology:DOID:9351); intracranial hypertension (Disease Ontology:DOID:9428); obsolete blood group, colton system (MONDO:MONDO:0020609)", "pathway": " (hsa:358); (R-HSA-1237044); (R-HSA-1247673); (R-HSA-432040); (R-HSA-432047); (R-HSA-9925563)", "pathway_count": 6, "publication_count": 167, "publication_id_list": "10090333;10510269;10529219;10564231;10611283;10649434;11001937;11027599;11034202;11076974;11171962;11231887;11237011;11532455;11573934;11606574;11952783;11968001;12084581;12194985;12754312;12801959;12933803;1311094;1373524;1395;14514735;14592814;14701836;14958;1510932;15131110;1534149;15501038;1554744;15703994;15858218;15948717;16120822;16325777;16407073;16407156;16563834;16596446;16682607;16992238;16994616;17012249;17156409;17178220;1722319;17374283;17522053;17712059;17920625;17990881;18202181;18501347;18511455;18555844;18678926;18691976;18762715;18768791;18948439;18984734;19054851;19144687;19170255;19273840;19383790;19574955;19590626;19664994;19668749;19857466;2007592;20147624;20162361;20230836;20375178;21041929;2111324;21251984;22334691;23219802;23359558;234739;2506737;25937211;27862975;29557506;2991279;30429286;3049610;3080418;3104109;31154438;3119859;3136125;31848261;33028705;33633747;34087483;35051231;35580925;35835865;36949749;37938771;39127771;39180980;39279492;3938604;4065330;40820801;4203704;4514311;4647257;4975618;4994926;5656372;6407977;6417382;6433979;6819139;7503232;7507481;7510718;7517253;7518771;7521540;7521882;7526388;7530250;7535000;7538665;7541176;7677994;7678419;8063828;8070313;8140421;8300612;8340403;8584435;8621489;8621513;8683474;8703053;8703970;8812490;8855281;8875343;8972395;9054574;9143858;9177353;9227644;9336012;9369468;9374639;9374640;9405233;9486145;9756892;9806845;9829975", "class_list": "", "function": "AQP1 differentially orchestrates endothelial cell senescence., [RefSeq, PubMed]; Aquaporin 1 aggravates lipopolysaccharide-induced macrophage polarization and pyroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Forms a water channel that facilitates the transport of water across cell membranes, playing a crucial role in water homeostasis in various tissues (PubMed:1373524, PubMed:23219802). Could also be permeable to small solutes including hydrogen peroxide, glycerol and gases such as amonnia (NH3), nitric oxide (NO) and carbon dioxide (CO2) (PubMed:16682607, PubMed:17012249, PubMed:19273840, PubMed:33028705, PubMed:8584435). Recruited to the ankyrin-1 complex, a multiprotein complex of the erythrocyte membrane, it could be part of a CO2 metabolon, linking facilitated diffusion of CO2 across the membrane, anion exchange of Cl(-)/HCO3(-) and interconversion of dissolved CO2 and carbonic acid in the cytosol (PubMed:17012249, PubMed:35835865). In vitro, it shows non-selective gated cation channel activity and may be permeable to cations like K(+) and Na(+) in vivo (PubMed:36949749, PubMed:8703053)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The water channels aquaporin-1 and aquaporin-3 interact with and affect the cell polarity protein Scribble in 3D in vitro models of breast cancer., [RefSeq, PubMed]; This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "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": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B5BU39;E7EM69;E9PC21;F5GY19;Q8TBI5;Q8TDC1", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0042802 identical protein binding;GO:0046875 ephrin receptor binding;GO:0005267 potassium channel activity;GO:0005372 water transmembrane transporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005903 brush border;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0019725 cellular homeostasis;GO:0043066 negative regulation of apoptotic process;GO:0050829 defense response to Gram-negative bacterium;GO:0071300 cellular response to retinoic acid", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "P29972-1", "record_type": "protein", "filter_code": "1000000.1100111.100000.000000000001000000.1100100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68D86-1", "uniprot_id": [ { "id": "C102B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68D86", "type": "external" } ], "mass": 60448.0, "length": 513, "protein_name": "Coiled-coil domain-containing protein 102B", "gene_name": "CCDC102B", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 102B", "refseq_ac": [ { "id": "NP_001087198", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001087198", "type": "external" } ], "gene_names_uniprotkb": "CCDC102B; C18orf14", "gene_names_refseq": "ACY1L; AN; C18orf14; CCDC102B; HsT1731", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 102B", "protein_names_refseq": "coiled-coil domain-containing protein 102B", "tax_id": 9606, "disease": "", "pathway": " (hsa:79839)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;23481700;26154972;29557506;29725004;30404835;31844290;34405274", "class_list": "", "function": "CCDC102B is phosphorylated by Nek2A (an isoform encoded by NEK2) and is disassociated from the centrosome at the onset of mitosis. Findings reveal a molecular role for CCDC102B in centrosome cohesion and centrosome linker assembly. Publication Status: Online-Only, [RefSeq, PubMed]; Development of myopic maculopathy thus likely exhibits a unique background apart from the development of myopia itself; elucidation of the roles of CCDC102B in myopic maculopathy development may thus provide insights into preventive methods for blindness in patients with high myopia Publication Status: Online-Only, [RefSeq, PubMed]; During interphase, forms fibers at the proximal ends of centrioles to maintain centrosome cohesion (PubMed:30404835). During mitosis, dissociates from the centrosome following phosphorylation to allow centrosome separation (PubMed:30404835). Contributes to CROCC/rootletin filament formation (PubMed:30404835)., [UniProtKB, 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": 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": 10, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 10, "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": "A1A4H1;Q7Z467;Q8NDK7;Q9H5C1", "ec_number_list": [], "go_molecular_function": "GO:0120283 protein serine/threonine kinase binding", "go_cellular_component": "GO:0005814 centriole", "go_biological_process": "GO:0010457 centriole-centriole cohesion", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q68D86-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42574-1", "uniprot_id": [ { "id": "CASP3_HUMAN", "url": "https://www.uniprot.org/uniprot/P42574", "type": "external" } ], "mass": 31608.0, "length": 277, "protein_name": "Caspase-3", "gene_name": "CASP3", "organism": "Human", "refseq_name": "caspase-3 isoform a preproprotein", "refseq_ac": [ { "id": "NP_004337", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004337", "type": "external" } ], "gene_names_uniprotkb": "CASP3; CPP32", "gene_names_refseq": "CASP3; CPP32B; CPP32; SCA-1", "protein_names_uniprotkb": "Caspase-3; 3.4.22.56; Apopain; CASP-3; CPP-32; Cysteine protease CPP32; Protein Yama; SCA-1; SREBP cleavage activity 1", "protein_names_refseq": "CASP-3; CPP-32; PARP cleavage protease; SREBP cleavage activity 1; apopain; caspase 3, apoptosis-related cysteine peptidase; caspase 3, apoptosis-related cysteine protease; caspase-3 isoform a preproprotein; cysteine protease CPP32; procaspase3; protein Yama", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); pre-malignant neoplasm (Disease Ontology:DOID:0060071); brain glioma (Disease Ontology:DOID:0060108); Parkinsonism (Disease Ontology:DOID:0080855); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); traumatic brain injury (Disease Ontology:DOID:0081292); endometritis (Disease Ontology:DOID:1002); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); urinary bladder cancer (Disease Ontology:DOID:11054); cryptorchidism (Disease Ontology:DOID:11383); heart disease (Disease Ontology:DOID:114); sciatic neuropathy (Disease Ontology:DOID:11446); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); spermatic cord torsion (Disease Ontology:DOID:11996); Huntington's disease (Disease Ontology:DOID:12858); dilated cardiomyopathy (Disease Ontology:DOID:12930); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); status epilepticus (Disease Ontology:DOID:1824); impotence (Disease Ontology:DOID:1875); atherosclerosis (Disease Ontology:DOID:1936); colon cancer (Disease Ontology:DOID:219); transient cerebral ischemia (Disease Ontology:DOID:224); transitional cell carcinoma (Disease Ontology:DOID:2671); severe acute respiratory syndrome (Disease Ontology:DOID:2945); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); breast carcinoma (Disease Ontology:DOID:3459); middle cerebral artery infarction (Disease Ontology:DOID:3525); intermittent claudication (Disease Ontology:DOID:3669); lung non-small cell carcinoma (Disease Ontology:DOID:3908); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); pancreatitis (Disease Ontology:DOID:4989); ureteral obstruction (Disease Ontology:DOID:5199); intestinal disease (Disease Ontology:DOID:5295); kidney disease (Disease Ontology:DOID:557); retinal disease (Disease Ontology:DOID:5679); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); abdominal aortic aneurysm (Disease Ontology:DOID:7693); hyperthyroidism (Disease Ontology:DOID:7998); cataract (Disease Ontology:DOID:83); osteoarthritis (Disease Ontology:DOID:8398); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:836); (R-HSA-111459); (R-HSA-111463); (R-HSA-111464); (R-HSA-111465); (R-HSA-111469); (R-HSA-140342); (R-HSA-1474228); (R-HSA-2028269); (R-HSA-205025); (R-HSA-211736); (R-HSA-264870); (R-HSA-351906); (R-HSA-418889); (R-HSA-449836); (R-HSA-5620971); (R-HSA-9960519); (R-HSA-9960525)", "pathway_count": 18, "publication_count": 273, "publication_id_list": "10200466;10206961;10213689;10229672;10318789;10386589;10395686;10438516;10453075;10469173;10490026;10497198;10564664;10706100;10713148;10748026;10764727;10809722;10821855;10823823;10891503;10899937;10929711;10972280;10986281;11076937;11084335;11106668;11118213;11140638;11230124;11237011;11242052;11248093;11257230;11257231;11278283;11278287;11278797;11313965;11375993;11423904;11463840;11500511;11689006;11701129;11741893;11752425;11830582;11872628;12011067;12107159;12469119;12558796;12660240;12668660;12727852;12748178;12824163;12843408;12874265;12941691;14960576;14970175;14973287;15003516;15054114;15109305;15149602;15200957;15234972;15310786;15345747;15569692;15573119;15591058;15650747;15688006;15910001;15958533;16123041;16133547;16158190;16204230;16286477;16374543;16488976;16492764;1649600;16631740;16825321;16897187;16916640;16930133;16983089;1698775;1707285;17085597;17297457;17332331;17354228;17559062;17608959;17938174;17974916;18158288;18227151;18239742;18283539;18328708;18434311;18452278;18467591;18521960;18619610;18658137;18723680;19010778;19571574;19657146;19714641;19859801;20142769;20412773;20566630;20850437;20868367;21030783;21187284;21205866;21224387;21233212;21297635;21357690;21441952;2147944;21555462;21670566;21695558;21716315;21784848;21832154;21864727;21949740;22159414;22223895;23035980;23152800;23186163;23291588;23301498;23599180;23650375;23744080;23845380;23845944;24556848;25662098;25880248;26095744;26375003;26508369;26992070;27281216;27383986;27418190;27846572;27862975;27920218;28045099;28218747;28228285;28392147;28459430;28514659;28832583;28904123;29177860;29242379;29437277;29493099;29539421;29557506;29706631;29786170;29789417;29891674;29898893;29990470;30143555;30315122;30410026;30429286;30524438;30833945;30878284;30976076;31092671;31113851;31530632;31844290;31998317;32109412;32157095;32161166;32188940;32357974;32367036;32820063;32983136;33298915;33717175;33725486;33936100;33968037;33981976;34171305;34357683;34725712;34932366;35051231;35338844;35446120;36010968;36284347;36423631;36758104;36758106;37558421;37938771;37993712;37993714;38640919;38665916;38703475;38755283;39242776;7075587;7489707;7547873;7596430;7615501;7774019;7805849;7983002;8226919;8626565;8673606;8696339;8702870;8755496;8976194;9045680;9065415;9108473;9115292;9148753;9230442;9252332;9323209;9325343;9334240;9390557;9422780;9431985;9461298;9545236;9624143;9796814;9852107;9922454;9930654;9973322", "class_list": "", "function": "A Non-Apoptotic Pattern of Caspase-9/Caspase-3 Activation During Differentiation of Human Embryonic Stem Cells into Cardiomyocytes., [RefSeq, PubMed]; Decreasing circ_0014614 promotes the differentiation of bone marrow flineage cells into megakaryocytes in essential thrombocythemia via activiation of miR-138-5p/caspase3 axis., [RefSeq, PubMed]; HIV-1 Vpu induces neurotoxicity by promoting Caspase 3-dependent cleavage of TDP-43., [RefSeq, PubMed]; PPARgamma regulates osteoarthritis chondrocytes apoptosis through caspase-3 dependent mitochondrial pathway. Erratum:[Sci Rep. 2024 Jun 10;14(1):13263. doi: 10.1038/s41598-024-64106-4. PMID: 38858431] Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a cysteine-aspartic acid protease that plays a central role in the execution-phase of cell apoptosis. The encoded protein cleaves and inactivates poly(ADP-ribose) polymerase while it cleaves and activates sterol regulatory element binding proteins as well as caspases 6, 7, and 9. This protein itself is processed by caspases 8, 9, and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. [provided by RefSeq, Aug 2017]., [RefSeq]; Thiol protease that acts as a major effector caspase involved in the execution phase of apoptosis (PubMed:18723680, PubMed:20566630, PubMed:23650375, PubMed:35338844, PubMed:35446120, PubMed:7596430). Following cleavage and activation by initiator caspases (CASP8, CASP9 and/or CASP10), mediates execution of apoptosis by catalyzing cleavage of many proteins (PubMed:18723680, PubMed:20566630, PubMed:23650375, PubMed:7596430). At the onset of apoptosis, it proteolytically cleaves poly(ADP-ribose) polymerase PARP1 at a '216-Asp-|-Gly-217' bond (PubMed:10497198, PubMed:16374543, PubMed:7596430, PubMed:7774019). Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop-helix leucine zipper domain and the membrane attachment domain (By similarity). Cleaves and activates caspase-6, -7 and -9 (CASP6, CASP7 and CASP9, respectively) (PubMed:7596430). Cleaves and inactivates interleukin-18 (IL18) (PubMed:37993714, PubMed:9334240). Involved in the cleavage of huntingtin (PubMed:8696339). Triggers cell adhesion in sympathetic neurons through RET cleavage (PubMed:21357690). Also involved in axon pruning during brain development (By similarity). Cleaves DSG2 in response to apoptosis resulting in a loss of full length DSG2 at desmosome cell junctions and subsequent loss of cell-cell adhesion (PubMed:17559062). Also cleaves JUP in response to apoptosis (PubMed:17559062). Cleaves and inhibits serine/threonine-protein kinase AKT1 in response to oxidative stress (PubMed:23152800). Acts as an inhibitor of type I interferon production during virus-induced apoptosis by mediating cleavage of antiviral proteins CGAS, IRF3 and MAVS, thereby preventing cytokine overproduction (PubMed:30878284). Also involved in pyroptosis by mediating cleavage and activation of gasdermin-E (GSDME) (PubMed:35338844, PubMed:35446120). Cleaves XRCC4 and phospholipid scramblase proteins XKR4, XKR8 and XKR9, leading to promote phosphatidylserine exposure on apoptotic cell surface (PubMed:23845944, PubMed:33725486). Cleaves BIRC6 following inhibition of BIRC6-caspase binding by DIABLO/SMAC (PubMed:36758104, PubMed:36758106)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 6, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 57, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5M2;D3DP53;Q96AN1;Q96KP2", "ec_number_list": [ { "id": "3.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.-.-.-", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "3.4.22.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.36", "type": "external" }, { "id": "3.4.22.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.56", "type": "external" }, { "id": "3.4.22.55", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.55", "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" }, { "id": "3.4.22.57", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.57", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.4.22.58", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.58", "type": "external" }, { "id": "3.4.22.60", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.60", "type": "external" }, { "id": "3.4.22.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.62", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" } ], "go_molecular_function": "GO:0002020 protease binding;GO:0008047 enzyme activator activity;GO:0044877 protein-containing complex binding;GO:0008233 peptidase activity;GO:0004197 cysteine-type endopeptidase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0007611 learning or memory;GO:0016485 protein processing;GO:0032496 response to lipopolysaccharide;GO:0034612 response to tumor necrosis factor", "synthesized_glycan_count": 0, "hit_score": 27.6, "record_id": "P42574-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5HYW2-1", "uniprot_id": [ { "id": "NHSL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5HYW2", "type": "external" } ], "mass": 133286.0, "length": 1225, "protein_name": "NHS-like protein 2", "gene_name": "NHSL2", "organism": "Human", "refseq_name": "NHS-like protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001013649", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013649", "type": "external" } ], "gene_names_uniprotkb": "NHSL2", "gene_names_refseq": "NHSL2", "protein_names_uniprotkb": "NHS-like protein 2", "protein_names_refseq": "NHS-like protein 2 isoform 1; NHS-like protein 2; TPT1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:340527)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;28832583;28834231;29242379;29557506;30379171;31844290;32157095;32897882;32983136;35051231;35580925;36284347;37938771", "class_list": "", "function": "", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "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": 0, "reported_glycation": 0, "reported_snv": 26, "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": "A0A0J9YY34;B2RN94", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q5HYW2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35222-1", "uniprot_id": [ { "id": "CTNB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P35222", "type": "external" } ], "mass": 85497.0, "length": 781, "protein_name": "Catenin beta-1", "gene_name": "CTNNB1", "organism": "Human", "refseq_name": "catenin beta-1 isoform 1", "refseq_ac": [ { "id": "NP_001091679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091679", "type": "external" } ], "gene_names_uniprotkb": "CTNNB1; CTNNB; PRO2286; SW-cl.35", "gene_names_refseq": "CTNNB1; CTNNB; EVR7; MRD19; NEDSDV; armadillo", "protein_names_uniprotkb": "Catenin beta-1; Beta-catenin", "protein_names_refseq": "catenin (cadherin-associated protein), beta 1, 88kDa; catenin beta-1 isoform 1", "tax_id": 9606, "disease": "exudative vitreoretinopathy (Disease Ontology:DOID:0050535); medulloblastoma (Disease Ontology:DOID:0050902); stroke (Disease Ontology:DOID:0051061); autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal dominant intellectual developmental disorder 19 (Disease Ontology:DOID:0070049); exudative vitreoretinopathy 7 (Disease Ontology:DOID:0080264); congenital disorder of glycosylation Iu (Disease Ontology:DOID:0080571); traumatic brain injury (Disease Ontology:DOID:0081292); progressive osseous heteroplasia (Disease Ontology:DOID:0111535); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); lung cancer (Disease Ontology:DOID:1324); cancer (Disease Ontology:DOID:162); malignant mesothelioma (Disease Ontology:DOID:1790); calcinosis (Disease Ontology:DOID:182); endodermal sinus tumor (Disease Ontology:DOID:1911); hepatitis B (Disease Ontology:DOID:2043); nephroblastoma (Disease Ontology:DOID:2154); colon adenocarcinoma (Disease Ontology:DOID:234); ovarian cancer (Disease Ontology:DOID:2394); transitional cell carcinoma (Disease Ontology:DOID:2671); endometriosis (Disease Ontology:DOID:289); granulosa cell tumor (Disease Ontology:DOID:2999); carcinoma (Disease Ontology:DOID:305); teratoma (Disease Ontology:DOID:3307); invasive lobular carcinoma (Disease Ontology:DOID:3457); lung carcinoma (Disease Ontology:DOID:3905); lung squamous cell carcinoma (Disease Ontology:DOID:3907); papillary thyroid carcinoma (Disease Ontology:DOID:3969); renal cell carcinoma (Disease Ontology:DOID:4450); pleomorphic adenoma (Disease Ontology:DOID:452); fibrolamellar carcinoma (Disease Ontology:DOID:5015); pilomatrixoma (Disease Ontology:DOID:5374); hepatocellular carcinoma (Disease Ontology:DOID:684); hepatoblastoma (Disease Ontology:DOID:687); neuropathy (Disease Ontology:DOID:870); in situ carcinoma (Disease Ontology:DOID:8719); colorectal cancer (Disease Ontology:DOID:9256); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1499); (R-HSA-195253); (R-HSA-196299); (R-HSA-201681); (R-HSA-201722); (R-HSA-3134973); (R-HSA-351906); (R-HSA-3769402); (R-HSA-381771); (R-HSA-4086398); (R-HSA-418990); (R-HSA-4411364); (R-HSA-4641262); (R-HSA-5218920); (R-HSA-525793); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5626467); (R-HSA-8853884); (R-HSA-8876493); (R-HSA-8951430); (R-HSA-9733709); (R-HSA-9754189); (R-HSA-9762292); (R-HSA-9764302); (R-HSA-9764561); (R-HSA-9766229); (R-HSA-9768727); (R-HSA-9793380); (R-HSA-9796292); (R-HSA-9823730); (R-HSA-9824272); (R-HSA-9824585); (R-HSA-9825892); (R-HSA-9830364); (R-HSA-9833576); (R-HSA-9834899); (R-HSA-9856530); (R-HSA-9856649); (R-HSA-9909649); (R-HSA-9918481); (R-HSA-9943962); (R-HSA-9958810); (R-HSA-9958825)", "pathway_count": 47, 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"class_list": "", "function": "Accumulated beta-catenin is associated with human atrial fibrosis and atrial fibrillation. Publication Status: Online-Only, [RefSeq, PubMed]; BRCC36 regulates beta-catenin ubiquitination to alleviate vascular calcification in chronic kidney disease. Publication Status: Online-Only, [RefSeq, PubMed]; Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). Also acts as a coactivator for other transcription factors, such as NR5A2 (PubMed:22187462). Promotes epithelial to mesenchymal transition/mesenchymal to epithelial transition (EMT/MET) via driving transcription of CTNNB1/TCF-target genes (PubMed:29910125). Involved in the regulation of cell adhesion, as component of an E-cadherin:catenin adhesion complex (By similarity). Acts as a negative regulator of centrosome cohesion (PubMed:18086858). Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization (PubMed:21262353). Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2 (PubMed:18957423). Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML (PubMed:22155184). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (By similarity). Involved in chondrocyte differentiation via interaction with SOX9: SOX9-binding competes with the binding sites of TCF/LEF within CTNNB1, thereby inhibiting the Wnt signaling (By similarity). Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, via promoting the transcription of differentiation factors such as LEF1, BMP2 and BMP4 (By similarity). Activity is repressed in a MSX1-mediated manner at the bell stage of mesenchymal tooth germ formation which prevents premature differentiation of odontoblasts (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SLC13A3 is a major effector downstream of activated beta-catenin in liver cancer pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 81, "reported_mutagensis": 22, "reported_glycation": 0, "reported_snv": 111, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 42, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K1L7;Q8NEW9;Q8NI94;Q9H391", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0005102 signaling receptor binding;GO:0019899 enzyme binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098831 presynaptic active zone cytoplasmic component;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0010717 regulation of epithelial to mesenchymal transition;GO:0035995 detection of muscle stretch;GO:0090279 regulation of calcium ion import;GO:0030997 regulation of centriole-centriole cohesion;GO:1904888 cranial skeletal system development", "synthesized_glycan_count": 0, "hit_score": 105.9, "record_id": "P35222-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100010000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS37-1", "uniprot_id": [ { "id": "ZHANG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS37", "type": "external" } ], "mass": 37134.0, "length": 354, "protein_name": "CREB/ATF bZIP transcription factor", "gene_name": "CREBZF", "organism": "Human", "refseq_name": "CREB/ATF bZIP transcription factor", "refseq_ac": [ { "id": "NP_001034707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034707", "type": "external" } ], "gene_names_uniprotkb": "CREBZF; ZF", "gene_names_refseq": "CREBZF; SMILE; ZF", "protein_names_uniprotkb": "CREB/ATF bZIP transcription factor; HCF-binding transcription factor Zhangfei; Host cell factor-binding transcription factor Zhangfei", "protein_names_refseq": "CREB/ATF bZIP transcription factor; HCF-binding transcription factor Zhangfei; SHP-interacting leucine zipper protein; Zhangfei; host cell factor-binding transcription factor Zhangfei; small heterodimer partner-interacting leucine zipper", "tax_id": 9606, "disease": "", "pathway": " (hsa:58487)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10871379;11237011;15705566;16282471;16343488;23481700;24275569;24714562;26728094;28832583;29242379;29331515;29493099;29557506;29632046;29786170;30429286;31154438;31530632;31844290;31848261;32157095;32387766;32983136;33981976;34509645;34561969;34932366;35094653;36010968;36284347;36499416;36680394;37819540;38286660", "class_list": "", "function": "Intrahepatic osteopontin signaling by CREBZF defines a checkpoint for steatosis-to-NASH progression., [RefSeq, PubMed]; Macrophage CREBZF Orchestrates Inflammatory Response to Potentiate Insulin Resistance and Type 2 Diabetes., [RefSeq, PubMed]; SMILE Downregulation during Melanogenesis Induces MITF Transcription in B16F10 Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Strongly activates transcription when bound to HCFC1. Suppresses the expression of HSV proteins in cells infected with the virus in a HCFC1-dependent manner. Also suppresses the HCFC1-dependent transcriptional activation by CREB3 and reduces the amount of CREB3 in the cell. Able to down-regulate expression of some cellular genes in CREBZF-expressing cells., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Up-regulation of long noncoding RNA MBNL1-AS1 suppresses breast cancer progression by modulating miR-423-5p/CREBZF axis., [RefSeq, PubMed]; When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion., [RefSeq, PubMed]; ZF binds ATF4/CREB2 and enhances its response to MEK1 activation., [RefSeq, PubMed]; ZF suppresses the ability of Luman/CREB3 to activate gene expression, [RefSeq, PubMed]; ZF suppresses the ability of VP16 to activate herpes simplex virus IE gene expression, [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": 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": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "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": "B2R8Q9;Q0P5U9;Q52LT3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0042802 identical protein binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;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:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9NS37-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07902-1", "uniprot_id": [ { "id": "GALT_HUMAN", "url": "https://www.uniprot.org/uniprot/P07902", "type": "external" } ], "mass": 43363.0, "length": 379, "protein_name": "Galactose-1-phosphate uridylyltransferase", "gene_name": "GALT", "organism": "Human", "refseq_name": "galactose-1-phosphate uridylyltransferase isoform 1", "refseq_ac": [ { "id": "NP_000146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000146", "type": "external" } ], "gene_names_uniprotkb": "GALT", "gene_names_refseq": "GALT", "protein_names_uniprotkb": "Galactose-1-phosphate uridylyltransferase; 2.7.7.12; Gal-1-P uridylyltransferase; UDP-glucose--hexose-1-phosphate uridylyltransferase", "protein_names_refseq": "UDP-glucose--hexose-1-phosphate uridylyltransferase; gal-1-P uridylyltransferase; galactose-1-phosphate uridyl transferase; galactose-1-phosphate uridylyltransferase isoform 1", "tax_id": 9606, "disease": "classic galactosemia (Disease Ontology:DOID:0111459); galactosemia (Disease Ontology:DOID:9870)", "pathway": " (hsa:2592); (R-HSA-5609978); (R-HSA-70370)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "10220154;10408771;10424825;10439960;10667469;10801319;11237011;11261429;11286503;11479743;11754113;11919338;11936817;12370157;12753898;12869412;1301925;1373122;1427861;15026423;15175331;15841485;1610789;17041746;17876724;18956253;1897530;19224951;2011574;2233247;22424782;22461411;23022339;23481700;23583749;24714562;25592817;25614870;25880248;26154972;26728094;27005423;2840550;28832583;28834231;29242379;29493099;29557506;29769354;30410026;31844290;32157095;32357974;32502341;32897882;32938616;32983136;33141586;33392160;33912179;33936100;33968037;34211107;34509645;36010968;36093991;36241641;36848716;38139222;4759900;7542884;7550229;7851421;7887416;7887417;8112740;8198125;8499924;8551426;8598637;8741038;8869397;8892021;8943248;8956044;9012409;9222760;9714048", "class_list": "glycogene", "function": "A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT., [RefSeq, PubMed]; Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]; Plays an important role in galactose metabolism., [UniProtKB, PubMed, PubMed]; Racial and ethnic diversity of classic and clinical variant galactosemia in the United States., [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": 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": 684, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4E097;E7ET32;Q14355;Q14356;Q14357;Q14358;Q14359;Q14360;Q14361;Q14363;Q14364;Q14365;Q14369;Q14370;Q14371;Q14372;Q14373;Q14374;Q14375;Q14377;Q14378;Q14380;Q14381;Q14382;Q14383;Q14384;Q14385;Q14386;Q14387;Q14389;Q16766;Q53XK1;Q5VZ81;Q96BY1", "ec_number_list": [ { "id": "2.7.7.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.12", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0008108 UDP-glucose:hexose-1-phosphate uridylyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0033499 galactose catabolic process via UDP-galactose, Leloir pathway;GO:0006011 UDP-alpha-D-glucose metabolic process;GO:0006012 galactose metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P07902-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N423-2", "uniprot_id": [ { "id": "LIRB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N423", "type": "external" } ], "mass": 65005.0, "length": 597, "protein_name": "Leukocyte immunoglobulin-like receptor subfamily B member 2", "gene_name": "LILRB2", "organism": "Human", "refseq_name": "leukocyte immunoglobulin-like receptor subfamily B member 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001074447", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074447", "type": "external" } ], "gene_names_uniprotkb": "LILRB2; ILT4; LIR2; MIR10", "gene_names_refseq": "CD85D; ILT-4; ILT4; LILRB2; LIR-2; LIR2; MIR-10; MIR10", "protein_names_uniprotkb": "Leukocyte immunoglobulin-like receptor subfamily B member 2; CD85 antigen-like family member D; ILT-4; Immunoglobulin-like transcript 4; LIR-2; Leukocyte immunoglobulin-like receptor 2; MIR-10; Monocyte/macrophage immunoglobulin-like receptor 10", "protein_names_refseq": "CD85 antigen-like family member D; Ig-like transcript 4; leucocyte Ig-like receptor B2; leukocyte immunoglobulin-like receptor subfamily B member 2 isoform 2 precursor; leukocyte immunoglobulin-like receptor subfamily B member 2; leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2; monocyte/macrophage immunoglobulin-like receptor 10; myeloid inhibitory receptor 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:10288); (R-HSA-198933); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "10499918;10746781;11169396;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11875462;11955593;11955595;11955599;12213321;12390682;12483297;12588680;12853576;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16455647;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;19860908;20448110;20730098;21241660;21800138;21841309;21877119;22396535;23650620;23695528;23929856;24305946;25703557;25716998;26284469;26300885;27859042;33043033;35911674;36284347;37481670;37622462;38393969;39207058;7531291;7542404;8178173;8692836;8995416;9259559;9285412;9314561;9382880;9548455;9700512;9730896;9842885", "class_list": "", "function": "Genome-Wide Association Analysis Identifies LILRB2 Gene for Pathological Myopia., [RefSeq, PubMed]; ILT2 and ILT4 Drive Myeloid Suppression via Both Overlapping and Distinct Mechanisms., [RefSeq, PubMed]; ILT4 reprograms glucose metabolism to promote tumor progression in triple-negative breast cancer., [RefSeq, PubMed]; LILRB2/PirB mediates macrophage recruitment in fibrogenesis of nonalcoholic steatohepatitis. Publication Status: Online-Only, [RefSeq, PubMed]; Placental Malaria is Associated with Higher LILRB2 Expression in Monocyte Subsets and Lower Anti-Malarial IgG Antibodies During Infancy. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C, HLA-G and HLA-F alleles (PubMed:11169396, PubMed:12853576, PubMed:16455647, PubMed:20448110, PubMed:27859042). Involved in the down-regulation of the immune response and the development of tolerance. Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (peptide-bound HLA-G-B2M) triggering differentiation of type 1 regulatory T cells and myeloid-derived suppressor cells, both of which actively maintain maternal-fetal tolerance (PubMed:16455647, PubMed:20448110, PubMed:27859042). Competes with CD8A for binding to class I MHC antigens. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions (PubMed:11875462, PubMed:12853576, PubMed:9548455, PubMed:9842885)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "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": 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": 26, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A2IXV5;A8MU67;C9JF29;O75017;Q8NHJ7;Q8NHJ8", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0001540 amyloid-beta binding;GO:0050839 cell adhesion molecule binding;GO:0044877 protein-containing complex binding;GO:0008157 protein phosphatase 1 binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0002645 positive regulation of tolerance induction;GO:0002666 positive regulation of T cell tolerance induction;GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0006955 immune response;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q8N423-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H477-1", "uniprot_id": [ { "id": "RBSK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H477", "type": "external" } ], "mass": 34143.0, "length": 322, "protein_name": "Ribokinase", "gene_name": "RBKS", "organism": "Human", "refseq_name": "ribokinase isoform 2", "refseq_ac": [ { "id": "NP_001274509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274509", "type": "external" } ], "gene_names_uniprotkb": "RBKS; RBSK", "gene_names_refseq": "RBKS; RBSK; RK", "protein_names_uniprotkb": "Ribokinase; 2.7.1.15; RK", "protein_names_refseq": "ribokinase isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64080); (R-HSA-71336)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10518023;10869557;11237011;11283793;14988808;17585908;17804405;18186520;18452278;18560757;18775706;20923965;22682222;25229427;25749547;2581946;27846572;28832583;29242379;29393594;29632046;30379171;32157095;32265295;32387766;33298915;33968037;34357683;34509645;34561969;3932573;3994686;7396409;8300619;9357955;9920387", "class_list": "", "function": "Asn199 and Glu202 play an important role in the regulation of human ribokinase activity., [RefSeq, PubMed]; Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium. The resulting D-ribose-5-phosphate can then be used either for sythesis of nucleotides, histidine, and tryptophan, or as a component of the pentose phosphate pathway., [UniProtKB, PubMed, HAMAP]; Identification and characterization of human ribokinase., [RefSeq, PubMed]; This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]., [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": 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": 0, "reported_glycation": 0, "reported_snv": 0, "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": "A9UK04;B4DV96", "ec_number_list": [ { "id": "2.7.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.15", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0004747 ribokinase activity;GO:0016301 kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006098 pentose-phosphate shunt;GO:0019303 D-ribose catabolic process;GO:0006796 phosphate-containing compound metabolic process;GO:0044281 small molecule metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9H477-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3A5-1", "uniprot_id": [ { "id": "SBDS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3A5", "type": "external" } ], "mass": 28764.0, "length": 250, "protein_name": "Ribosome maturation protein SBDS", "gene_name": "SBDS", "organism": "Human", "refseq_name": "ribosome maturation protein SBDS", "refseq_ac": [ { "id": "NP_057122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057122", "type": "external" } ], "gene_names_uniprotkb": "SBDS; CGI-97", "gene_names_refseq": "CGI-97; SBDS; SDO1; SDS; SWDS", "protein_names_uniprotkb": "Ribosome maturation protein SBDS; Shwachman-Bodian-Diamond syndrome protein", "protein_names_refseq": "SBDS, ribosome assembly guanine nucleotide exchange factor; ribosome maturation protein SBDS", "tax_id": 9606, "disease": "Shwachman-Diamond syndrome (Disease Ontology:DOID:0060479); neuronal ceroid lipofuscinosis 3 (Disease Ontology:DOID:0110731); aplastic anemia (Disease Ontology:DOID:12449)", "pathway": " (hsa:51119)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "11237011;12496757;14749921;15860664;17475909;17643419;17924679;19602484;19759903;20015955;20053358;20068231;21536732;22223895;24366607;24636098;24898207;25645385;25991726;26479198;26992070;27600516;28228285;28510447;28832583;28834231;29242379;29331515;29393594;29557506;29632046;30484775;30524438;30833945;31154438;31222486;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33214551;33298915;33592498;33912179;33968037;33981976;34019948;34087483;34171305;34229054;34357683;34509645;34725712;35051231;35138101;35251023;35318648;35580925;36010968;36241641;36284347;37806249;37938771;38240987;38665916;40914422", "class_list": "", "function": "Gene conversion mutations in SBDS are common to different ethnic groups, but they are not confined to a limited region of the gene, [RefSeq, PubMed]; Genetic variations in exon 2 of SBDS gene do not appear to be contributing to aplastic anemia in the north Indian population., [RefSeq, PubMed]; Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth., [RefSeq, PubMed]; M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression., [RefSeq, PubMed]; Mutations in SBDS are associated with Shwachman-Diamond syndrome GeneRIF: Mutations in SBDS are associated with Shwachman-Diamond syndrome., [RefSeq, PubMed]; Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]., [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": 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": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0P4;Q96FX0;Q9NV53", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008017 microtubule binding;GO:0019843 rRNA binding;GO:0043022 ribosome binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0002244 hematopoietic progenitor cell differentiation;GO:0006364 rRNA processing;GO:0030282 bone mineralization;GO:0007052 mitotic spindle organization;GO:0048539 bone marrow development", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9Y3A5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15654-1", "uniprot_id": [ { "id": "TRIP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15654", "type": "external" } ], "mass": 50288.0, "length": 476, "protein_name": "Thyroid receptor-interacting protein 6", "gene_name": "TRIP6", "organism": "Human", "refseq_name": "thyroid receptor-interacting protein 6", "refseq_ac": [ { "id": "NP_003293", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003293", "type": "external" } ], "gene_names_uniprotkb": "TRIP6; OIP1", "gene_names_refseq": "OIP-1; OIP1; TRIP-6; TRIP6i2; TRIP6; ZRP-1", "protein_names_uniprotkb": "Thyroid receptor-interacting protein 6; OIP-1; Opa-interacting protein 1; TR-interacting protein 6; TRIP-6; ZRP-1; Zyxin-related protein 1", "protein_names_refseq": "OPA-interacting protein 1; TR-interacting protein 6; thyroid hormone receptor interacting protein 6; thyroid receptor-interacting protein 6; zyxin related protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7205)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "10400701;10826496;11237011;11239002;14688263;14978097;15489293;15988003;16137684;16497976;16624523;16880273;17081983;17095609;17591779;18669648;19017743;19651622;20068231;20547766;20876301;23186163;23301498;23481700;23576104;24129315;24715725;25502872;26992070;27134758;27543614;28832583;29242379;29485866;30001391;30429286;30779550;30833945;31373491;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;33214551;33298915;33592498;33912179;33968037;33981976;34019948;34087483;34229054;34357683;34405274;34509645;35008510;35051231;35132862;35154160;35251023;35254053;36010968;36215666;36833223;37217939;38369589;38665916;39534244;39894887;40596516;7776974;9598321", "class_list": "", "function": "ABCB1 Amplicon Contains Cyclic AMP Response Element-Driven TRIP6 Gene in Taxane-Resistant MCF-7 Breast Cancer Sublines. Publication Status: Online-Only, [RefSeq, PubMed]; Relays signals from the cell surface to the nucleus to weaken adherens junction and promote actin cytoskeleton reorganization and cell invasiveness. Involved in lysophosphatidic acid-induced cell adhesion and migration. Acts as a transcriptional coactivator for NF-kappa-B and JUN, and mediates the transrepression of these transcription factors induced by glucocorticoid receptor., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; TRIP6 a potential diagnostic marker for colorectal cancer with glycolysis and immune infiltration association. Publication Status: Online-Only, [RefSeq, PubMed]; The Role of TRIP6, ABCC3 and CPS1 Expression in Resistance of Ovarian Cancer to Taxanes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [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, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 14, "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": "A4D2E7;F2ZC07;F2ZC08;O15170;O15275;Q9BTB2;Q9BUE5;Q9BXP3;Q9UNT4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0019900 kinase binding;GO:0046966 nuclear thyroid hormone receptor binding;GO:0005149 interleukin-1 receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005925 focal adhesion", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0030335 positive regulation of cell migration;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0048041 focal adhesion assembly", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q15654-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYG4-1", "uniprot_id": [ { "id": "PAR6G_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYG4", "type": "external" } ], "mass": 40883.0, "length": 376, "protein_name": "Partitioning defective 6 homolog gamma", "gene_name": "PARD6G", "organism": "Human", "refseq_name": "partitioning defective 6 homolog gamma", "refseq_ac": [ { "id": "NP_115899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115899", "type": "external" } ], "gene_names_uniprotkb": "PARD6G; PAR6G", "gene_names_refseq": "PAR-6G; PAR6gamma; PARD6G", "protein_names_uniprotkb": "Partitioning defective 6 homolog gamma; PAR-6 gamma; PAR6D", "protein_names_refseq": "PAR-6 gamma protein; PAR6D; par-6 partitioning defective 6 homolog gamma; partitioning defective 6 homolog gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:84552); (R-HSA-420029)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "10934474;11237011;11260256;11447115;11964389;12953056;16129888;26073086;29557506;32157095;32938616;33141586;34932366", "class_list": "", "function": "Adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (By similarity)., [UniProtKB]; This paper shows Par6G as a negative regulator of the phosphatidylinositol 3'-kinase/phosphoinositide-dependent protein kinase 1/Akt pathway and epithelial cell proliferation and evidence for frequent inactivation of Par6G gene in epithelial cancers., [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": 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": 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": "A8QM57", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0005938 cell cortex", "go_biological_process": "GO:0060341 regulation of cellular localization;GO:0051301 cell division;GO:0007098 centrosome cycle;GO:0007163 establishment or maintenance of cell polarity", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9BYG4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0I2-1", "uniprot_id": [ { "id": "ENKD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0I2", "type": "external" } ], "mass": 38759.0, "length": 346, "protein_name": "Enkurin domain-containing protein 1", "gene_name": "ENKD1", "organism": "Human", "refseq_name": "enkurin domain-containing protein 1", "refseq_ac": [ { "id": "NP_115516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115516", "type": "external" } ], "gene_names_uniprotkb": "ENKD1; C16orf48; PRO21183", "gene_names_refseq": "C16orf48; DAKV6410; ENKD1; FBB11", "protein_names_uniprotkb": "Enkurin domain-containing protein 1", "protein_names_refseq": "enkurin domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84080)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11230166;11237011;12975309;19413330;23186163;24715725;25576301;27920218;28832583;29242379;29493099;31844290;32157095;32387766;32938616;33724673;33968037;34509645;35072334;35197565;35301795;36960713;39894887", "class_list": "", "function": "Enkurin domain containing 1 (ENKD1) regulates the proliferation, migration and invasion of non-small cell lung cancer cells., [RefSeq, PubMed]; Microtubule-binding protein which regulates microtubule organization and stability (PubMed:35072334, PubMed:35197565). Promotes the stability of astral microtubules and facilitates the proper orientation of the mitotic spindle (PubMed:35197565). This allows the oriented division of basal keratinocytes and contributes to epidermal stratification (By similarity). Required for the assembly of both primary and motile cilia (PubMed:35301795). Destabilizes the interaction between CCP110 and CEP97 by competing with CEP97 for binding to CCP110 which promotes the removal of CCP110 and CEP97 from the mother centriole and allows the initiation of ciliogenesis (PubMed:35301795)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Upregulation of ENKD1 disrupts cellular homeostasis to promote lymphoma development., [RefSeq, 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, "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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "Q6UWD7", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005929 cilium;GO:0015630 microtubule cytoskeleton;GO:0005814 centriole", "go_biological_process": "GO:0044458 motile cilium assembly;GO:1905515 non-motile cilium assembly;GO:0000132 establishment of mitotic spindle orientation", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9H0I2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHP6-1", "uniprot_id": [ { "id": "RSP14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHP6", "type": "external" } ], "mass": 38592.0, "length": 348, "protein_name": "Radial spoke head 14 homolog", "gene_name": "RSPH14", "organism": "Human", "refseq_name": "radial spoke head 14 homolog", "refseq_ac": [ { "id": "NP_055248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055248", "type": "external" } ], "gene_names_uniprotkb": "RSPH14; RTDR1", "gene_names_refseq": "RSPH14; RTDR1", "protein_names_uniprotkb": "Radial spoke head 14 homolog; Rhabdoid tumor deletion region protein 1", "protein_names_refseq": "radial spoke head 14 homolog; rhabdoid tumor deletion region gene 1; rhabdoid tumor deletion region protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27156)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10607907;11237011;18477386;30315122;31530632;31844290;32265295;32983136", "class_list": "", "function": "Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia., [UniProtKB, UniProtKB]; This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [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, "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": 6, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001534 radial spoke;GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0097729 9+2 motile cilium", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9UHP6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2T9L4-1", "uniprot_id": [ { "id": "INSY1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2T9L4", "type": "external" } ], "mass": 31928.0, "length": 293, "protein_name": "Inhibitory synaptic factor 1", "gene_name": "INSYN1", "organism": "Human", "refseq_name": "inhibitory synaptic factor 1 isoform 1", "refseq_ac": [ { "id": "NP_001034703", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034703", "type": "external" } ], "gene_names_uniprotkb": "INSYN1; C15orf59", "gene_names_refseq": "C15orf59; INSYN1", "protein_names_uniprotkb": "Inhibitory synaptic factor 1; InSyn1", "protein_names_refseq": "UPF0583 protein C15orf59; inhibitory synaptic factor 1 isoform 1; inhibitory synaptic protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:388135)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "Component of the protein machinery at the inhibitory synapses, probably acting as a scaffold. Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. This synaptic inhibition is fundamental for the functioning of the central nervous system, shaping and orchestrating the flow of information through neuronal networks to generate a precise neural code., [UniProtKB, UniProtKB]", "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": 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": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0014069 postsynaptic density", "go_biological_process": "GO:0060080 inhibitory postsynaptic potential;GO:0099084 postsynaptic specialization organization", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q2T9L4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12104-1", "uniprot_id": [ { "id": "FABPI_HUMAN", "url": "https://www.uniprot.org/uniprot/P12104", "type": "external" } ], "mass": 15237.0, "length": 132, "protein_name": "Fatty acid-binding protein, intestinal", "gene_name": "FABP2", "organism": "Human", "refseq_name": "fatty acid-binding protein, intestinal", "refseq_ac": [ { "id": "NP_000125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000125", "type": "external" } ], "gene_names_uniprotkb": "FABP2; FABPI", "gene_names_refseq": "FABP2; FABPI; I-FABP", "protein_names_uniprotkb": "Fatty acid-binding protein, intestinal; Fatty acid-binding protein 2; I-FABP; Intestinal-type fatty acid-binding protein", "protein_names_refseq": "fatty acid binding protein 2, intestinal; fatty acid-binding protein, intestinal; intestinal-type fatty acid-binding protein", "tax_id": 9606, "disease": "multiple endocrine neoplasia type 2A (Disease Ontology:DOID:0050430); familial medullary thyroid carcinoma (Disease Ontology:DOID:0050547); pheochromocytoma (Disease Ontology:DOID:0050771); stroke (Disease Ontology:DOID:0051061); renal hypoplasia (Disease Ontology:DOID:0080204); Parkinsonism (Disease Ontology:DOID:0080855); multiple endocrine neoplasia type 2B (Disease Ontology:DOID:10016); Hirschsprung's disease (Disease Ontology:DOID:10487); clubfoot (Disease Ontology:DOID:11836); carotid stenosis (Disease Ontology:DOID:13001); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); brain ischemia (Disease Ontology:DOID:2316); coronary artery disease (Disease Ontology:DOID:3393); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2169); (R-HSA-163560)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10070036;10671541;12809489;12832420;12899384;14563446;14567680;15364929;15456755;16741517;17603008;18080878;19181555;21504868;27862975;2824476;29789417;36768285;37076872;38159016;39242607;39277188;7883976;9204553", "class_list": "", "function": "FABPs are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters. FABP2 is probably involved in triglyceride-rich lipoprotein synthesis. Binds saturated long-chain fatty acids with a high affinity, but binds with a lower affinity to unsaturated long-chain fatty acids. FABP2 may also help maintain energy homeostasis by functioning as a lipid sensor., [UniProtKB]; Genetic polymorphisms in FABP2, CYP2E1, and TP53 genes are potentially associated with colorectal cancer susceptibility. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; Intestinal fatty acid binding protein is associated with infarct size and cardiac function in acute heart failure following myocardial infarction. Publication Status: Online-Only, [RefSeq, PubMed]; Serum Levels of IFABP2 and Differences in Lactobacillus and Porphyromonas gingivalis Abundance on Gut Microbiota Are Associated with Poor Therapeutic Response in Rheumatoid Arthritis: A Pilot Study. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an intracellular fatty acid-binding protein that participates in the uptake, intracellular metabolism, and transport of long-chain fatty acids. The encoded protein is also involved in the modulation of cell growth and proliferation. This protein binds saturated long-chain fatty acids with high affinity, and may act as a lipid sensor to maintain energy homeostasis. [provided by RefSeq, Aug 2017]., [RefSeq]; [Ala54Thr polymorphism of the fatty acid transporter gene (FABP2) in patients with type 2 diabetes mellitus in Yakutia]. 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, "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": 7, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 18, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2NKJ1", "ec_number_list": [], "go_molecular_function": "GO:0036041 long-chain fatty acid binding;GO:0005319 lipid transporter activity;GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0005504 fatty acid binding", "go_cellular_component": "GO:0045179 apical cortex;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005902 microvillus", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0015908 fatty acid transport;GO:0019433 triglyceride catabolic process;GO:0098856 intestinal lipid absorption", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P12104-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15379-1", "uniprot_id": [ { "id": "HDAC3_HUMAN", "url": "https://www.uniprot.org/uniprot/O15379", "type": "external" } ], "mass": 48848.0, "length": 428, "protein_name": "Histone deacetylase 3", "gene_name": "HDAC3", "organism": "Human", "refseq_name": "histone deacetylase 3 isoform 2", "refseq_ac": [ { "id": "NP_003874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003874", "type": "external" } ], "gene_names_uniprotkb": "HDAC3", "gene_names_refseq": "HD3; HDAC3; KDAC3; RPD3-2; RPD3", "protein_names_uniprotkb": "Histone deacetylase 3; 3.5.1.-; 3.5.1.98; HD3; Protein deacetylase HDAC3; Protein deacylase HDAC3; RPD3-2; SMAP45", "protein_names_refseq": "SMAP45; histone deacetylase 3 isoform 2; protein deacetylase HDAC3; protein deacylase HDAC3", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); intrahepatic cholestasis of pregnancy (Disease Ontology:DOID:0070227); prostate carcinoma (Disease Ontology:DOID:10286); impotence (Disease Ontology:DOID:1875); ovarian cancer (Disease Ontology:DOID:2394); endometrial carcinoma (Disease Ontology:DOID:2871); endometriosis (Disease Ontology:DOID:289); acute kidney failure (Disease Ontology:DOID:3021); high grade glioma (Disease Ontology:DOID:3070); lung non-small cell carcinoma (Disease Ontology:DOID:3908); ovarian carcinoma (Disease Ontology:DOID:4001); pulmonary hypertension (Disease Ontology:DOID:6432); colorectal cancer (Disease Ontology:DOID:9256); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:8841); (R-HSA-193670); (R-HSA-1989781); (R-HSA-2122947); (R-HSA-2151201); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-3214815); (R-HSA-350054); (R-HSA-381340); (R-HSA-390471); (R-HSA-400206); (R-HSA-5617472); (R-HSA-8940973); (R-HSA-8943724); (R-HSA-9022537); (R-HSA-9022692); (R-HSA-9029569); (R-HSA-9609690); (R-HSA-9701898); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9841922); (R-HSA-9931509); (R-HSA-9933387); (R-HSA-9976102)", "pathway_count": 26, "publication_count": 522, "publication_id_list": 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"class_list": "", "function": "De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder., [RefSeq, PubMed]; Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4), and some other non-histone substrates (PubMed:21030595, PubMed:21444723, PubMed:23911289, PubMed:25301942, PubMed:28167758, PubMed:28497810, PubMed:32404892, PubMed:22230954). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events (PubMed:23911289). Histone deacetylases act via the formation of large multiprotein complexes, such as N-Cor repressor complex, which activate the histone deacetylase activity (PubMed:23911289, PubMed:22230954). Participates in the BCL6 transcriptional repressor activity by deacetylating the H3 'Lys-27' (H3K27) on enhancer elements, antagonizing EP300 acetyltransferase activity and repressing proximal gene expression (PubMed:23911289). Acts as a molecular chaperone for shuttling phosphorylated NR2C1 to PML bodies for sumoylation (By similarity). Contributes, together with XBP1 isoform 1, to the activation of NFE2L2-mediated HMOX1 transcription factor gene expression in a PI(3)K/mTORC2/Akt-dependent signaling pathway leading to endothelial cell (EC) survival under disturbed flow/oxidative stress (PubMed:25190803). Regulates both the transcriptional activation and repression phases of the circadian clock in a deacetylase activity-independent manner (By similarity). During the activation phase, promotes the accumulation of ubiquitinated BMAL1 at the E-boxes and during the repression phase, blocks FBXL3-mediated CRY1/2 ubiquitination and promotes the interaction of CRY1 and BMAL1 (By similarity). The NCOR1-HDAC3 complex regulates the circadian expression of the core clock gene BMAL1 and the genes involved in lipid metabolism in the liver (By similarity). Also functions as a deacetylase for non-histone targets, such as KAT5, MEF2D, MAPK14, RARA and STAT3 (PubMed:15653507, PubMed:21030595, PubMed:21444723, PubMed:25301942, PubMed:28167758). Serves as a corepressor of RARA, mediating its deacetylation and repression, leading to inhibition of RARE DNA element binding (PubMed:28167758). In association with RARA, plays a role in the repression of microRNA-10a and thereby in the inflammatory response (PubMed:28167758). In addition to protein deacetylase activity, also acts as a protein-lysine deacylase by recognizing other acyl groups: catalyzes removal of (2E)-butenoyl (crotonyl), lactoyl (lactyl), 2-hydroxyisobutanoyl (2-hydroxyisobutyryl) and isonicotinyl acyl groups from lysine residues, leading to protein decrotonylation, delactylation, de-2-hydroxyisobutyrylation and deisonicotinylation, respectively (PubMed:28497810, PubMed:29192674, PubMed:34608293, PubMed:34545082, PubMed:35044827). Catalyzes decrotonylation of MAPRE1/EB1 (PubMed:34608293). Mediates delactylation NBN/NBS1, thereby inhibiting DNA double-strand breaks (DSBs) via homologous recombination (HR) (PubMed:38961290)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The involvement of HDAC3 in the pathogenesis of lung injury and pulmonary fibrosis. Review article 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 14, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DQE1;O43268;Q9UEI5;Q9UEV0", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "1.2.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.12", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "1.14.99.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.66", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.45", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.46", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.5.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.48", "type": "external" }, { "id": "3.5.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.62", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "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" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0019899 enzyme binding;GO:0003714 transcription corepressor activity;GO:0042826 histone deacetylase binding;GO:0051020 GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0060816 random inactivation of X chromosome;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001701 in utero embryonic development;GO:0001934 positive regulation of protein phosphorylation", "synthesized_glycan_count": 0, "hit_score": 52.7, "record_id": "O15379-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEW0-1", "uniprot_id": [ { "id": "PARD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEW0", "type": "external" } ], "mass": 151423.0, "length": 1356, "protein_name": "Partitioning defective 3 homolog", "gene_name": "PARD3", "organism": "Human", "refseq_name": "partitioning defective 3 homolog isoform 2", "refseq_ac": [ { "id": "NP_001171714", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171714", "type": "external" } ], "gene_names_uniprotkb": "PARD3; PAR3A; PAR3", "gene_names_refseq": "ASIP; Baz; PAR3alpha; PAR3; PARD-3; PARD3A; PARD3; PPP1R118; SE2-5L16; SE2-5LT1; SE2-5T2", "protein_names_uniprotkb": "Partitioning defective 3 homolog; ASIP; Atypical PKC isotype-specific-interacting protein; CTCL tumor antigen se2-5; PAR-3; PAR3-alpha; PARD-3", "protein_names_refseq": "CTCL tumor antigen se2-5; PAR3-alpha; atypical PKC isotype-specific interacting protein; bazooka; par-3 family cell polarity regulator alpha; par-3 partitioning defective 3 homolog; partitioning defective 3 homolog isoform 2; partitioning defective 3 homolog; protein phosphatase 1, regulatory subunit 118", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); neural tube defects, susceptibility to (MONDO:MONDO:0020705)", "pathway": " (hsa:56288); (R-HSA-2173791); (R-HSA-420029)", "pathway_count": 3, "publication_count": 110, "publication_id_list": "10877843;10934474;10954424;11149944;11237011;11257119;11447115;11642408;11964389;12234671;12390250;12459187;12953056;14657501;15144186;15254234;15302935;15761148;15951569;16129888;16678097;17016520;17053785;17081983;17322306;17389395;17924679;18083107;18220336;18267089;18452278;18669648;18838552;19413330;19651622;19664994;19664995;19690332;19812038;19901323;20058876;20068231;20073081;20332120;21258369;21406692;21949390;22371556;22579248;22883624;23186163;23301498;23481700;23832200;24275569;24714562;24715725;24928906;25418920;25576301;26375851;26766442;27600516;27925688;28228285;28649982;28832583;28904123;29242379;29557506;29632046;29769354;30315122;30379171;30779550;30833945;31844290;31998317;32157095;32161166;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34725712;35051231;35251023;35254053;35580925;36010968;36241641;36284347;37232035;37938771;38317186;38711082;39302247;39534244;9233797", "class_list": "", "function": "Adapter protein involved in asymmetrical cell division and cell polarization processes (PubMed:10954424, PubMed:27925688). Seems to play a central role in the formation of epithelial tight junctions (PubMed:27925688). Targets the phosphatase PTEN to cell junctions (By similarity). Involved in Schwann cell peripheral myelination (By similarity). Association with PARD6B may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly (By similarity). The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (PubMed:10934474). Required for establishment of neuronal polarity and normal axon formation in cultured hippocampal neurons (PubMed:19812038, PubMed:27925688)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; DCAF1 interacts with PARD3 to promote hepatocellular carcinoma progression and metastasis by activating the Akt signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Integrative analysis of cancer dependency data and comprehensive phosphoproteomics data revealed the EPHA2-PARD3 axis as a cancer vulnerability in KRAS-mutant colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; PARD3 drives tumorigenesis through activating Sonic Hedgehog signalling in tumour-initiating cells in liver cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]., [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": 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": 40, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "F5H5T0;Q5T2U1;Q5VUA2;Q5VUA3;Q5VWV0;Q5VWV1;Q5VWV3;Q5VWV4;Q5VWV5;Q6IQ47;Q8TCZ9;Q8TEW1;Q8TEW2;Q8TEW3;Q96K28;Q96RM6;Q96RM7;Q9BY57;Q9BY58;Q9HC48;Q9NWL4;Q9NYE6", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0035091 phosphatidylinositol binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0033269 internode region of axon;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0007155 cell adhesion;GO:0007409 axonogenesis;GO:0006612 protein targeting to membrane;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q8TEW0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8ND90-1", "uniprot_id": [ { "id": "PNMA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8ND90", "type": "external" } ], "mass": 39761.0, "length": 353, "protein_name": "Paraneoplastic antigen Ma1", "gene_name": "PNMA1", "organism": "Human", "refseq_name": "paraneoplastic antigen Ma1", "refseq_ac": [ { "id": "NP_006020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006020", "type": "external" } ], "gene_names_uniprotkb": "PNMA1; MA1", "gene_names_refseq": "MA1; PNMA1", "protein_names_uniprotkb": "Paraneoplastic antigen Ma1; 37 kDa neuronal protein; Neuron- and testis-specific protein 1", "protein_names_refseq": "37 kDa neuronal protein; neuron- and testis-specific protein 1; paraneoplastic Ma antigen 1; paraneoplastic antigen Ma1; paraneoplastic neuronal antigen MA1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9240)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10050892;16214224;18991276;19366867;25576301;26811146;27846572;27862975;28904123;29493099;29557506;30429286;30484775;31217245;31844290;32157095;32265295;32387766;32488085;32502341;32938616;32983136;33298915;33717175;33912179;33968037;33981976;34509645;35051231;35318648;36010968;36241641;36284347;37938771", "class_list": "", "function": "This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated 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, "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": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K4L5;O95144;Q8NG07", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0002437 inflammatory response to antigenic stimulus", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8ND90-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9J2-1", "uniprot_id": [ { "id": "RM44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9J2", "type": "external" } ], "mass": 37535.0, "length": 332, "protein_name": "Large ribosomal subunit protein mL44", "gene_name": "MRPL44", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL44", "refseq_ac": [ { "id": "NP_075066", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075066", "type": "external" } ], "gene_names_uniprotkb": "MRPL44", "gene_names_refseq": "COXPD16; L44MT; MRP-L44; MRPL44; mL44", "protein_names_uniprotkb": "Large ribosomal subunit protein mL44; 39S ribosomal protein L44, mitochondrial; L44mt; MRP-L44", "protein_names_refseq": "39S ribosomal protein L44, mitochondrial; large ribosomal subunit protein mL44; mitochondrial large ribosomal subunit protein mL44", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 16 (Disease Ontology:DOID:0111469)", "pathway": " (hsa:65080); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;11551941;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;23301498;23315540;24715725;25233460;25278503;25576301;25590838;25838379;26992070;27029019;27846572;28892042;28904123;30315122;31530632;31844290;32157095;32161166;32488085;32502341;32938616;32983136;33243891;33298915;33878294;33968037;34140213;35051231;35177605;36241641;36302763;36596788;37141370;40914422", "class_list": "", "function": "Component of the 39S subunit of mitochondrial ribosome (PubMed:23315540). May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome (PubMed:23315540)., [UniProtKB, PubMed, UniProtKB]; MRPL44 expression may be a representative marker of metabolic phenotype according to OxPhos amount and a useful predictor of lymph node metastasis in Papillary thyroid carcinoma. Erratum:[Medicine (Baltimore). 2015 Feb;94(8):1], [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. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53S16;Q6IA62;Q9H821", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003725 double-stranded RNA binding", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006396 RNA processing;GO:0006417 regulation of translation;GO:0070125 mitochondrial translational elongation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9H9J2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75751-1", "uniprot_id": [ { "id": "S22A3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75751", "type": "external" } ], "mass": 61280.0, "length": 556, "protein_name": "Solute carrier family 22 member 3", "gene_name": "SLC22A3", "organism": "Human", "refseq_name": "solute carrier family 22 member 3", "refseq_ac": [ { "id": "NP_068812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068812", "type": "external" } ], "gene_names_uniprotkb": "SLC22A3; EMTH; OCT3", "gene_names_refseq": "EMTH; EMT; OCT3; SLC22A3", "protein_names_uniprotkb": "Solute carrier family 22 member 3; EMT; Extraneuronal monoamine transporter; Organic cation transporter 3; hOCT3", "protein_names_refseq": "EMT organic cation transporter 3; extraneuronal monoamine transporter; organic cation transporter 3; solute carrier family 22 (extraneuronal monoamine transporter), member 3; solute carrier family 22 (organic cation transporter), member 3; solute carrier family 22 member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:6581); (R-HSA-2161517); (R-HSA-549127)", "pathway_count": 3, "publication_count": 49, "publication_id_list": "10072434;10196521;10966924;12089149;12372408;12384147;12538837;14608356;14674884;15107849;15184985;15795384;15817714;16263091;16330770;16581093;16788146;16807400;16914559;17437964;17460754;17509534;17686774;17709369;19141712;20103563;20858707;26522469;26979622;30524438;31848261;35051231;35307651;36241641;37843894;37924453;38580166;38896441;40972734;41018975;7989337;8647271;9260930;9520460;9655880;9685390;9744804;9861027;9933568", "class_list": "", "function": "A Polynesian-specific SLC22A3 variant associates with low plasma lipoprotein(a) concentrations independent of apo(a) isoform size in males., [RefSeq, PubMed]; Electrogenic voltage-dependent uniporter that mediates the transport of a variety of organic cations such as endogenous bioactive amines, cationic drugs and xenobiotics (PubMed:10196521, PubMed:10966924, PubMed:12538837, PubMed:17460754, PubMed:20858707). Cation cellular uptake or release is driven by the electrochemical potential, i.e. membrane potential and concentration gradient (PubMed:10966924). Functions as a Na(+)- and Cl(-)-independent, bidirectional uniporter (PubMed:12538837). Implicated in monoamine neurotransmitters uptake such as dopamine, adrenaline/epinephrine, noradrenaline/norepinephrine, histamine, serotonin and tyramine, thereby supporting a role in homeostatic regulation of aminergic neurotransmission in the brain (PubMed:10196521, PubMed:16581093, PubMed:20858707). Transports dopaminergic neuromodulators cyclo(his-pro) and salsolinol with low efficiency (PubMed:17460754). May be involved in the uptake and disposition of cationic compounds by renal clearance from the blood flow (PubMed:10966924). May contribute to regulate the transport of cationic compounds in testis across the blood-testis-barrier (Probable). Mediates the transport of polyamine spermidine and putrescine (By similarity). Mediates the bidirectional transport of polyamine agmatine (PubMed:12538837). Also transports guanidine (PubMed:10966924). Mediates the transport of choline (PubMed:40972734). May mediate intracellular transport of organic cations due to its localization on endomembranes, thereby contributing to amine metabolism and intracellular signaling (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Genetic preservation of SLC22A3 in the Admixed and Xhosa populations living in the Western Cape., [RefSeq, PubMed]; LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms Contribute to the Risk of Coronary Artery Disease in Chinese Han Population., [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. [provided by RefSeq, Jul 2008]., [RefSeq]; Targeted mutagenesis of negatively charged amino acids outlining the substrate translocation path within the human organic cation transporter 3., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "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": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 22, "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": "Q5SYN6;Q9UP02", "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:0022857 transmembrane transporter activity;GO:0008504 monoamine transmembrane transporter activity;GO:0015220 choline transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0031966 mitochondrial membrane;GO:0043025 neuronal cell body", "go_biological_process": "GO:0015697 quaternary ammonium group transport;GO:0015844 monoamine transport;GO:0015695 organic cation transport;GO:0006811 monoatomic ion transport;GO:0015711 organic anion transport", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "O75751-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H668-1", "uniprot_id": [ { "id": "STN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H668", "type": "external" } ], "mass": 42119.0, "length": 368, "protein_name": "CST complex subunit STN1", "gene_name": "STN1", "organism": "Human", "refseq_name": "CST complex subunit STN1", "refseq_ac": [ { "id": "NP_079204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204", "type": "external" } ], "gene_names_uniprotkb": "STN1; OBFC1", "gene_names_refseq": "AAF-44; AAF44; CRMCC2; OBFC1; RPA-32; STN1; bA541N10.2", "protein_names_uniprotkb": "CST complex subunit STN1; Oligonucleotide/oligosaccharide-binding fold-containing protein 1; Suppressor of cdc thirteen homolog", "protein_names_refseq": "CST complex subunit STN1; STN1, CST complex subunit; alpha accessory factor 44; oligonucleotide/oligosaccharide binding fold containing 1; oligonucleotide/oligosaccharide-binding fold-containing protein 1; replication protein A 32 kDa subunit; suppressor of cdc thirteen homolog", "tax_id": 9606, "disease": "telangiectasis (Disease Ontology:DOID:1272); melanoma (Disease Ontology:DOID:1909); cerebroretinal microangiopathy with calcifications and cysts 2 (MONDO:MONDO:0015026)", "pathway": " (hsa:79991); (R-HSA-174411); (R-HSA-174430)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "10329413;11237011;12766176;12930902;15066120;16314528;16385451;17903301;19648609;1974050;19854130;20639858;22763445;22863775;22871736;22964711;23142664;23481700;23826127;23851344;24038470;24115439;24366607;24397554;24715725;25418920;25483097;25519149;25576301;25880248;26154972;26375851;26811146;26992070;27432940;27846572;27862975;27920218;28063628;28218747;28228285;28334750;28514659;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29774655;29786170;30026550;30315122;30429286;30524438;30796050;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32983136;33141586;33298915;33592498;33717175;33912179;33968037;33981976;34087483;34211107;34509645;34932366;35051231;35318648;35580925;35830881;35831508;36241641;38036565;38418884;6693436;8954124;9822671", "class_list": "", "function": "CST-polymerase alpha-primase solves a second telomere end-replication problem., [RefSeq, PubMed]; CaMKK2 and CHK1 phosphorylate human STN1 in response to replication stress to protect stalled forks from aberrant resection. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445, PubMed:22964711). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Required for efficicient replication of the duplex region of the telomere. Promotes efficient replication of lagging-strand telomeres (PubMed:22863775, PubMed:22964711). Promotes general replication start following replication-fork stalling implicating new origin firing (PubMed:22863775). May be in involved in C-strand fill-in during late S/G2 phase independent of its role in telomere duplex replication (PubMed:23142664)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites., [UniProtKB, PubMed, PubMed]; Component of the CST complex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Reconstitution of a telomeric replicon organized by CST., [RefSeq, PubMed]; Structures of the human CST-Polalpha-primase complex bound to telomere templates., [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": 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": 1, "reported_mutagensis": 3, "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": "D3DR99;Q5TCZ0", "ec_number_list": [], "go_molecular_function": "GO:0042162 telomeric DNA binding;GO:0003697 single-stranded DNA binding;GO:0043047 single-stranded telomeric DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000781 chromosome, telomeric region;GO:1990879 CST complex", "go_biological_process": "GO:0010833 telomere maintenance via telomere lengthening;GO:0000723 telomere maintenance;GO:0016233 telomere capping;GO:0032211 negative regulation of telomere maintenance via telomerase;GO:0045740 positive regulation of DNA replication", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9H668-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYB0-1", "uniprot_id": [ { "id": "TE2IP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYB0", "type": "external" } ], "mass": 44260.0, "length": 399, "protein_name": "Telomeric repeat-binding factor 2-interacting protein 1", "gene_name": "TERF2IP", "organism": "Human", "refseq_name": "telomeric repeat-binding factor 2-interacting protein 1", "refseq_ac": [ { "id": "NP_061848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061848", "type": "external" } ], "gene_names_uniprotkb": "TERF2IP; DRIP5; PP8000; RAP1", "gene_names_refseq": "DRIP5; RAP1; TERF2IP", "protein_names_uniprotkb": "Telomeric repeat-binding factor 2-interacting protein 1; Dopamine receptor-interacting protein 5; RAP1 homolog; Repressor/activator protein 1 homolog; TERF2-interacting telomeric protein 1; TRF2-interacting telomeric protein 1; hRap1", "protein_names_refseq": "TERF2-interacting telomeric protein 1; TRF2-interacting telomeric RAP1 protein; dopamine receptor-interacting protein 5; repressor/activator protein 1 homolog; telomeric repeat-binding factor 2-interacting protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54386); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-171319); (R-HSA-174411); (R-HSA-174414); (R-HSA-174417); (R-HSA-174430); (R-HSA-174437); (R-HSA-2559586); (R-HSA-9670095)", "pathway_count": 15, "publication_count": 256, "publication_id_list": "10037601;10074426;10323868;10329413;10669743;10706276;10850490;10882850;10930409;11056019;11237011;11454856;11545594;11673449;11904416;12097317;12140329;12393752;12456671;12556884;12699629;12718543;12766176;12930902;12953102;14532133;14659874;15007108;15060173;15064416;15066120;15125634;15189140;15235794;15302935;15316005;15341901;15369670;15383534;15458641;15498874;15510216;15655109;15790808;16141325;16166375;16221681;16262255;16314528;16339074;16522649;16858402;16964243;17081983;17172855;17287340;17322306;17395830;17512402;17525332;17694070;17923702;18077418;18212344;18358808;18438399;18452278;18491316;18523010;18593712;18669648;18767875;18847512;19146767;19179534;1924375;19383767;19413330;19415658;19596235;19651622;19664994;19664995;19690332;19734544;1974050;19763083;19783983;19854130;20058876;20068231;20166139;20211137;20404094;20524933;20551483;20634189;20639858;20651253;21406692;21722948;22460582;22569481;22579284;22645359;22848106;22871736;22962365;23103865;23186163;23301498;2342578;23481700;23604072;23657261;23755964;2392154;24038470;24115439;24275569;24366607;24714562;24715725;25128433;25218447;25240135;25271372;25418920;25576301;25593184;25620558;25645385;25755297;25810538;25880248;26055325;26095805;26154972;26280087;26375851;26728094;26768311;26992070;27354518;27846572;27849570;27862975;27920218;28063628;28218747;28334750;28514659;28649982;28832583;28834231;28854357;28904123;29178645;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29695869;29774655;29786170;29789417;30026550;30192525;30315122;30410026;30429286;30524438;30779550;31154438;31222486;31530632;31723267;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32976206;32983136;33123756;33141586;33298915;33592498;33633747;33638620;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34433824;34561969;34932366;35051231;35251023;35264562;35318648;35561310;35580925;36010968;36241641;36284347;36929840;37938771;40596516;40914422;6693436;7479006;8016081;8110764;8218289;8242751;8242752;8284199;8407958;8475094;8662714;8794855;8954124;9008167;9187114;9207108;9223305;9223306;9285814;9321410;9430628;9705289;9733514;9733515;9790531;9811839;9822671;9843217;9890904", "class_list": "", "function": "Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere recombination and is essential for repressing homology-directed repair (HDR), which can affect telomere length. Does not bind DNA directly: recruited to telomeric double-stranded 5'-TTAGGG-3' repeats via its interaction with TERF2. Independently of its function in telomeres, also acts as a transcription regulator: recruited to extratelomeric 5'-TTAGGG-3' sites via its association with TERF2 or other factors, and regulates gene expression. When cytoplasmic, associates with the I-kappa-B-kinase (IKK) complex and acts as a regulator of the NF-kappa-B signaling by promoting IKK-mediated phosphorylation of RELA/p65, leading to activate expression of NF-kappa-B target genes., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population., [RefSeq, PubMed]; Mex3a promotes oncogenesis through the RAP1/MAPK signaling pathway in colorectal cancer and is inhibited by hsa-miR-6887-3p., [RefSeq, PubMed]; SGSM2 inhibits thyroid cancer progression by activating RAP1 and enhancing competitive RAS inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; The human RAP1 and GFAPvarepsilon proteins increase gamma-secretase activity in a yeast model system., [RefSeq, 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, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "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": "B4DQN4;Q4W4Y2;Q8WYZ3;Q9NWR2", "ec_number_list": [], "go_molecular_function": "GO:0098505 G-rich strand telomeric DNA binding;GO:0042162 telomeric DNA binding;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000783 nuclear telomere cap complex;GO:0070187 shelterin complex", "go_biological_process": "GO:0032205 negative regulation of telomere maintenance;GO:0010833 telomere maintenance via telomere lengthening;GO:0032204 regulation of telomere maintenance;GO:0006351 DNA-templated transcription;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 26.0, "record_id": "Q9NYB0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXN2-1", "uniprot_id": [ { "id": "CLC7A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXN2", "type": "external" } ], "mass": 27627.0, "length": 247, "protein_name": "C-type lectin domain family 7 member A", "gene_name": "CLEC7A", "organism": "Human", "refseq_name": "C-type lectin domain family 7 member A isoform b", "refseq_ac": [ { "id": "NP_072092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072092", "type": "external" } ], "gene_names_uniprotkb": "CLEC7A; BGR; CLECSF12; DECTIN1; PRO1082", "gene_names_refseq": "BGR; CANDF4; CD369; CLEC7A; CLECSF12; DECTIN1; SCARE2", "protein_names_uniprotkb": "C-type lectin domain family 7 member A; Beta-glucan receptor; C-type lectin superfamily member 12; DC-associated C-type lectin 1; Dectin-1; Dendritic cell-associated C-type lectin 1", "protein_names_refseq": "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12; C-type lectin domain family 7 member A isoform b; C-type lectin domain family 7 member A; C-type lectin superfamily member 12; DC-associated C-type lectin 1; beta-glucan receptor; dectin-1; dendritic cell-associated C-type lectin-1; lectin-like receptor 1", "tax_id": 9606, "disease": "aspergillosis (Disease Ontology:DOID:13564); chronic mucocutaneous candidiasis (Disease Ontology:DOID:2058); aspergillosis, susceptibility to (MONDO:MONDO:0013562)", "pathway": " (hsa:64581); (R-HSA-5607764)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10187770;10508765;10779524;10882101;11053425;11057907;11090634;11262391;11325957;11460167;11470510;11491532;11567029;11606584;11745369;12423684;12473183;12975309;14514672;14702039;15105418;15125833;15327770;15489334;15845454;16341139;16541075;16870151;17047224;17135271;17158449;17182550;17230442;19359218;19864674;19934406;20038579;20193029;20300203;20538596;20807886;21525931;21966355;22069318;22265677;24074955;29557506;30459171;32234475;32476786;32493087;33043033;33552998;34305908;35051231;37340703;38459541;38846954;38874868;38907541;39103844;7499357;7566098;7612269;8972730", "class_list": "glycogene", "function": "CLEC7A regulates M2 macrophages to suppress the immune microenvironment and implies poorer prognosis of glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Dectin-1 aggravates neutrophil inflammation through caspase-11/4-mediated macrophage pyroptosis in asthma. Publication Status: Online-Only, [RefSeq, PubMed]; IL-17A and TNF-alpha-induced Dectin-1 expression may promote keratinocyte proliferation in psoriatic lesions., [RefSeq, PubMed]; Lectin that functions as a pattern recognizing receptor (PRR) specific for beta-1,3-linked and beta-1,6-linked glucans, which constitute cell wall constituents from pathogenic bacteria and fungi (PubMed:11567029, PubMed:12423684). Necessary for the TLR2-mediated inflammatory response and activation of NF-kappa-B: upon beta-glucan binding, recruits SYK via its ITAM motif and promotes a signaling cascade that activates some CARD domain-BCL10-MALT1 (CBM) signalosomes, leading to the activation of NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines (By similarity). Enhances cytokine production in macrophages and dendritic cells (By similarity). Mediates production of reactive oxygen species in the cell (By similarity). Mediates phagocytosis of C.albicans conidia (PubMed:17230442). Binds T-cells in a way that does not involve their surface glycans and plays a role in T-cell activation. Stimulates T-cell proliferation. Induces phosphorylation of SCIMP after binding beta-glucans (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Possible role of intestinal fungal dysbiosis in dectin-1 and cytokines expression in patients with ulcerative colitis., [RefSeq, PubMed]; This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants of human DECTIN-1 rs16910526 are linked to differential reactive oxygen species production and susceptibility to tuberculosis. Publication Status: Online-Only, [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 350, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R861;B7Z494;B7Z5A9;B7Z5B9;Q6IPS7;Q96D32;Q96DR9;Q96LD3;Q96PA4;Q96PA5;Q96PA6;Q96PA7;Q96PA8;Q9H1K3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0001872 (1->3)-beta-D-glucan binding;GO:0038187 pattern recognition receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0032747 positive regulation of interleukin-23 production;GO:0070884 regulation of calcineurin-NFAT signaling cascade;GO:0016046 detection of fungus;GO:0001878 response to yeast;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9BXN2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y215-1", "uniprot_id": [ { "id": "COLQ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y215", "type": "external" } ], "mass": 47766.0, "length": 455, "protein_name": "Acetylcholinesterase collagenic tail peptide", "gene_name": "COLQ", "organism": "Human", "refseq_name": "acetylcholinesterase collagenic tail peptide isoform I precursor", "refseq_ac": [ { "id": "NP_005668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005668", "type": "external" } ], "gene_names_uniprotkb": "COLQ", "gene_names_refseq": "CMS5; COLQ; EAD", "protein_names_uniprotkb": "Acetylcholinesterase collagenic tail peptide; AChE Q subunit; Acetylcholinesterase-associated collagen", "protein_names_refseq": "AChE Q subunit; acetylcholinesterase collagenic tail peptide isoform I precursor; acetylcholinesterase collagenic tail peptide; acetylcholinesterase-associated collagen; collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase; collagenic tail of endplate acetylcholinesterase; single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase", "tax_id": 9606, "disease": "congenital myasthenic syndrome 5 (Disease Ontology:DOID:0110667)", "pathway": " (hsa:8292)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10441569;10665486;11237011;11865139;14702351;14759258;15159418;15526038;24938146;29557506;3161900;31787984;35051231;37356721;37646703;38003406;38475910;39894887;9689136;9758617", "class_list": "", "function": "Anchors the catalytic subunits of asymmetric AChE to the synaptic basal membrane, and is therefore involved in the down-regulation of colinergic synaptic transmission., [UniProtKB, PubMed]; COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum. Publication Status: Online-Only, [RefSeq, PubMed]; Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. Review article, [RefSeq, PubMed]; Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ. Publication Status: Online-Only, [RefSeq, PubMed]; The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction., [RefSeq, PubMed]; This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "B3KY09;Q6DK18;Q6YH18;Q6YH19;Q6YH20;Q6YH21;Q9NP18;Q9NP19;Q9NP20;Q9NP21;Q9NP22;Q9NP23;Q9NP24;Q9UP88", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0008201 heparin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0031594 neuromuscular junction;GO:0043083 synaptic cleft;GO:0005604 basement membrane", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0001507 acetylcholine catabolic process in synaptic cleft;GO:0032223 negative regulation of synaptic transmission, cholinergic;GO:0035418 protein localization to synapse", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9Y215-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HT8-1", "uniprot_id": [ { "id": "MR1L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HT8", "type": "external" } ], "mass": 14808.0, "length": 127, "protein_name": "MORF4 family-associated protein 1-like 1", "gene_name": "MRFAP1L1", "organism": "Human", "refseq_name": "MORF4 family-associated protein 1-like 1", "refseq_ac": [ { "id": "NP_982287", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_982287", "type": "external" } ], "gene_names_uniprotkb": "MRFAP1L1; PP784", "gene_names_refseq": "MRFAP1L1; PP784", "protein_names_uniprotkb": "MORF4 family-associated protein 1-like 1", "protein_names_refseq": "MORF4 family-associated protein 1-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:114932)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10931946;15498874;18446792;22544926;23481700;24715725;25576301;25645385;26154972;26992070;27600516;27920218;28228285;28832583;28904123;29242379;29493099;29632711;29786170;30315122;30429286;30524438;31154438;31530632;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33537174;33691108;33912179;33968037;33981976;34087483;34211107;34509645;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771", "class_list": "", "function": "", "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": 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": "B2R6R0;Q6NXT8;Q9P0J5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q96HT8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6Y0-1", "uniprot_id": [ { "id": "USBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6Y0", "type": "external" } ], "mass": 76068.0, "length": 703, "protein_name": "Harmonin-binding protein USHBP1", "gene_name": "USHBP1", "organism": "Human", "refseq_name": "harmonin-binding protein USHBP1 isoform 1", "refseq_ac": [ { "id": "NP_001308346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308346", "type": "external" } ], "gene_names_uniprotkb": "USHBP1; AIEBP; MCC2", "gene_names_refseq": "AIEBP; MCC2; USHBP1", "protein_names_uniprotkb": "Harmonin-binding protein USHBP1; AIE-75-binding protein; MCC-2; Mutated in colon cancer protein 2; USH1C-binding protein 1; Usher syndrome type-1C protein-binding protein 1", "protein_names_refseq": "AIE-75-binding protein; USH1C-binding protein 1; Usher syndrome 1C binding protein 1; harmonin-binding protein USHBP1 isoform 1; harmonin-binding protein USHBP1; mutated in colon cancer protein 2; usher syndrome type-1C protein-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83878)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;11311560;25892735;29557506;30429286;31154438;31844290;31848261;32938616;35051231;35580925", "class_list": "", "function": "", "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": 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": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7L6;B2RCR9;Q8NBX7;Q96KH3;Q9BYI8", "ec_number_list": [], "go_molecular_function": "GO:0030165 PDZ domain binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8N6Y0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRI3-2", "uniprot_id": [ { "id": "ZNT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRI3", "type": "external" } ], "mass": 40564.0, "length": 372, "protein_name": "Proton-coupled zinc antiporter SLC30A2", "gene_name": "SLC30A2", "organism": "Human", "refseq_name": "proton-coupled zinc antiporter SLC30A2 isoform 1", "refseq_ac": [ { "id": "NP_001004434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004434", "type": "external" } ], "gene_names_uniprotkb": "SLC30A2; ZNT2", "gene_names_refseq": "PP12488; SLC30A2; TNZD; ZNT2; ZnT-2", "protein_names_uniprotkb": "Proton-coupled zinc antiporter SLC30A2; Solute carrier family 30 member 2; Zinc transporter 2; ZnT-2", "protein_names_refseq": "proton-coupled zinc antiporter SLC30A2 isoform 1; proton-coupled zinc antiporter SLC30A2; solute carrier family 30 (zinc transporter), member 2; zinc transporter 2", "tax_id": 9606, "disease": "zinc deficiency, transient neonatal (MONDO:MONDO:0011973)", "pathway": " (hsa:7780); (R-HSA-435368)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "15276077;15498874;17065149;17349999;17897319;17971500;19496757;21289295;22733820;24366607;25657003;25808614;30893306;31471319;32320289;34965180;36204728;8617223;8962159", "class_list": "", "function": "A mutation in SLC30A2 (ZnT-2) may have a role in transient neonatal zinc deficiency, [RefSeq, PubMed]; Electroneutral proton-coupled antiporter concentrating zinc ions into a variety of intracellular organelles including endosomes, zymogen granules and mitochondria. Thereby, plays a crucial role in cellular zinc homeostasis to confer upon cells protection against its potential cytotoxicity (PubMed:17065149, PubMed:21289295, PubMed:22733820, PubMed:25657003, PubMed:25808614, PubMed:30893306). Regulates the zinc concentration of milk, through the transport of zinc ions into secretory vesicles of mammary cells (PubMed:19496757). By concentrating zinc ions into lysosomes participates to lysosomal-mediated cell death during early mammary gland involution (PubMed:25808614)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Electroneutral proton-coupled antiporter mediating the efflux of zinc ions through the plasma membrane., [UniProtKB, PubMed]; HZnT-2 was not detectable in leukocytes., [RefSeq, PubMed]; Loss-of-function SLC30A2 mutants are associated with gut dysbiosis and alterations in intestinal gene expression in preterm infants., [RefSeq, PubMed]; The protein encoded by this gene is a zinc transporter that acts as a homodimer. The encoded protein plays a role in secreting zinc into breast milk. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]., [RefSeq]; Thr288Ser mutation in SLC30A2/ZnT2 impairs critical functions of mammary epithelial cells, resulting in milk volume and altering lysosome function and cell energetics., [RefSeq, PubMed]; ZnT2 can facilitate vesicular zinc accumulation independently of AP-3 function, and validate the M1 fibroblastoid line as a human cell culture system amenable to the study of vesicular zinc regulation., [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": 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": 3, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 0, "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": "Q71RC8", "ec_number_list": [], "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0140826 zinc:proton antiporter activity", "go_cellular_component": "GO:0099503 secretory vesicle;GO:0005737 cytoplasm;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0010043 response to zinc ion;GO:0006882 intracellular zinc ion homeostasis;GO:0140882 zinc export across plasma membrane;GO:0062111 zinc ion import into organelle", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9BRI3-2", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99942-1", "uniprot_id": [ { "id": "RNF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99942", "type": "external" } ], "mass": 19881.0, "length": 180, "protein_name": "E3 ubiquitin-protein ligase RNF5", "gene_name": "RNF5", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF5", "refseq_ac": [ { "id": "NP_008844", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008844", "type": "external" } ], "gene_names_uniprotkb": "RNF5; G16; NG2; RMA1", "gene_names_refseq": "RING5; RMA1; RNF5", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF5; 2.3.2.27; HsRma1; RING finger protein 5; Ram1 homolog", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF5; RING-type E3 ubiquitin transferase RNF5; protein G16; ram1 homolog; ring finger protein 5, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:6048); (R-HSA-382556); (R-HSA-5678895); (R-HSA-901032); (R-HSA-9931269)", "pathway_count": 5, "publication_count": 127, "publication_id_list": "10409699;10484077;10665657;10694380;10748049;11146634;11329381;11504826;11562789;11812794;12379217;12379510;12403779;12604685;12861019;12913004;1352877;1356264;1359686;1377674;14656967;14661924;15175422;15472518;15611333;15713668;15863492;15899824;16176924;16431915;16816140;16901789;1695717;17523162;17855752;17894550;17977821;18003979;18264092;18282684;18417469;18426978;18434309;18716059;19002207;19084021;19269966;19285439;19447222;19570978;1968359;19862647;1998343;20583968;20621639;21083385;2135388;21652558;22009320;22047557;2210768;22178883;22223895;22318583;2236053;23063411;23093945;23186163;23232094;24019521;24685677;24714562;2475911;25092655;25133187;25489052;25576301;25584290;2570070;2570460;26208431;26992070;28132103;28228285;28649982;28832583;28904123;2898143;29055231;29242379;29393594;29557506;30118680;30315122;30334692;30334693;30429286;31092671;31154438;31217245;31679946;31844290;31848261;32157095;32161166;32897882;32938616;32981041;32983136;33912179;34087483;3457471;3472246;35051231;36656913;36737599;37816703;38866787;7523390;7529176;7553863;7553864;7865904;9533025;9652413;9816258;9831708", "class_list": "", "function": "Downregulation of EphA2 stability by RNF5 limits its tumor-suppressive function in HER2-negative breast cancers. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase., [UniProtKB, UniProtKB]; Human gastric cancer progression and stabilization of ATG2B through RNF5 binding facilitated by autophagy-associated CircDHX8. Publication Status: Online-Only, [RefSeq, PubMed]; Membrane-bound E3 ubiquitin-protein ligase that mediates ubiquitination of target proteins (PubMed:11329381, PubMed:12861019, PubMed:16176924, PubMed:19269966, PubMed:19285439). May function together with E2 ubiquitin-conjugating enzymes UBE2D1/UBCH5A and UBE2D2/UBC4 (PubMed:11329381). Mediates ubiquitination of PXN/paxillin,thereby regulating cell motility and localization of PXN/paxillin (PubMed:12861019). Catalyzes ubiquitination of Salmonella type III secreted protein sopA (PubMed:16176924). Mediates the 'Lys-63'-linked polyubiquitination of JKAMP thereby regulating JKAMP function by decreasing its association with components of the proteasome and ERAD; the ubiquitination appears to involve E2 ubiquitin-conjugating enzyme UBE2N (PubMed:19269966). Mediates the 'Lys-48'-linked polyubiquitination of STING1 at 'Lys-150' leading to its proteasomal degradation; the ubiquitination occurs in mitochondria after viral transfection and regulates antiviral responses (PubMed:19285439). Catalyzes ubiquitination and subsequent degradation of ATG4B, thereby inhibiting autophagy (PubMed:23093945)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RNF5 regulates cell motility by targeting paxillin ubiquitination and altered localization, [RefSeq, PubMed]; Suppression of KSHV lytic replication and primary effusion lymphoma by selective RNF5 inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; The E3 ligase RNF5 restricts SARS-CoV-2 replication by targeting its envelope protein for degradation. Erratum:[Signal Transduct Target Ther. 2023 Feb 27;8(1):85. doi: 10.1038/s41392-023-01374-y. PMID: 36849529] Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [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, "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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "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": "A2BFI6;B2R4K3;Q0VDB7;Q9UMQ2", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane;GO:0044322 endoplasmic reticulum quality control compartment", "go_biological_process": "GO:0055085 transmembrane transport;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0036503 ERAD pathway;GO:0070936 protein K48-linked ubiquitination;GO:1904380 endoplasmic reticulum mannose trimming", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q99942-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13861-1", "uniprot_id": [ { "id": "KAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P13861", "type": "external" } ], "mass": 45518.0, "length": 404, "protein_name": "cAMP-dependent protein kinase type II-alpha regulatory subunit", "gene_name": "PRKAR2A", "organism": "Human", "refseq_name": "cAMP-dependent protein kinase type II-alpha regulatory subunit isoform a", "refseq_ac": [ { "id": "NP_001308911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308911", "type": "external" } ], "gene_names_uniprotkb": "PRKAR2A; PKR2; PRKAR2", "gene_names_refseq": "PKR2; PRKAR2A; PRKAR2", "protein_names_uniprotkb": "cAMP-dependent protein kinase type II-alpha regulatory subunit", "protein_names_refseq": "cAMP-dependent protein kinase regulatory subunit RII alpha; cAMP-dependent protein kinase type II-alpha regulatory subunit isoform a; cAMP-dependent protein kinase type II-alpha regulatory subunit; protein kinase A, RII-alpha subunit; protein kinase, cAMP-dependent, regulatory subunit type II alpha", "tax_id": 9606, "disease": "congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:5576); (R-HSA-163615); (R-HSA-164378); (R-HSA-180024); (R-HSA-381676); (R-HSA-432040); (R-HSA-442720); (R-HSA-5610787); (R-HSA-9010642); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-983231); (R-HSA-9856530)", "pathway_count": 14, "publication_count": 354, "publication_id_list": "10075700;10318832;10376603;10496952;10579907;10604473;10639123;10649434;10714768;10764742;10861086;10966113;11034202;11042108;11043579;11062261;11071853;11076974;11237011;11242053;11375483;11744692;11751636;11773440;11823486;11853546;11895428;11950885;11968001;12032298;12034449;12036966;12065642;12106601;12117970;12134158;12176338;12180908;12192414;12194985;12401793;12410638;12417718;12427746;12435627;12475787;12496249;12724311;12801959;12860470;12938160;1325798;13680124;1372004;1373524;14514735;14592814;14603322;14654843;14675202;14701836;14988243;15020713;15087129;1510932;15161916;15245432;15247287;15304325;1534149;15539556;15569269;15703994;15705806;15710388;15718470;15879134;15930098;15955806;15995848;16054028;16061793;16120822;16136078;16229832;16254602;1630448;16311594;16339192;16396903;16407073;16407156;16493421;16613843;16613879;16645038;16707575;16780920;16807684;16921024;16973695;17027958;17027967;17081983;17095603;17156409;17178220;17196961;17200122;17287340;17306374;17322306;17379646;17442700;17444618;17487921;17535922;17553904;17641202;17762891;17827149;17900700;17960137;18070890;18088087;18202100;18202181;18287102;18318008;18327258;18412318;18452278;18455992;18511455;18566127;18577758;18669648;18678926;18691976;18707149;18710921;18767875;18818202;18832070;19000668;19007248;19020623;19144687;19170255;19196978;19223390;19286674;19293402;19342448;19365551;19383790;19413330;19415658;19531498;19549984;19574955;19592253;19651622;19664995;19666503;19690332;19723632;19741198;19767740;19776033;19859570;19861722;19877275;19906846;19931550;19948480;19996169;20058876;20067783;20068231;20154143;20166139;20187088;20207148;20230923;20395968;20412786;20460306;20530532;20627800;20844016;20889716;20956384;21037092;2105456;21209331;21406692;21423175;21695114;21801010;21844907;218813;22007132;22223895;22231273;22391300;22495674;22976297;23186163;23209152;23301498;23332756;23481700;23675550;23719536;24273487;24275569;24302888;24339784;24530924;24845016;24863049;24917297;24925320;24952464;24962572;2540040;2553705;25882844;25892735;26190834;26308095;26375851;26768311;26845023;26987903;26992070;27392633;27484798;27566546;27797339;28450397;28595943;28904123;29493099;29557506;2991279;30429286;3049610;3104109;31205027;3127824;31844290;32157095;32296767;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33968037;33981976;3409321;34171305;34372567;34405274;34499618;34509645;34944009;35008409;35051231;35251023;35580925;36010968;36215666;36241641;36284347;37137901;37938771;38665916;4065330;40914422;6087160;6293815;6296685;6330098;6501302;7503232;7510718;7517665;7522622;7526388;7530449;7535000;7538665;7568118;7589461;7651538;7678419;7876172;8007951;8063828;8138058;8140421;8226994;8340414;8404634;8405712;8522976;8527267;8598224;8621513;8657103;8662638;8663227;8683474;8700127;8702633;8816476;8830891;8855281;8862523;9000504;9003463;9042338;9050880;9065479;9099992;9162098;9227644;9230307;9314552;9326583;9331217;9369468;9371714;9374639;9374640;9417641;9422515;9488697;9620797;9651336;9756892;9829975;9857068;9920805;9927674", "class_list": "", "function": "Organoid models of fibrolamellar carcinoma mutations reveal hepatocyte transdifferentiation through cooperative BAP1 and PRKAR2A loss. Publication Status: Online-Only, [RefSeq, PubMed]; Protein Kinase A (PRKA) Activity Is Regulated by the Proteasome at the Onset of Human Sperm Capacitation. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Targeting the Regulatory Subunit R2Alpha of Protein Kinase A in Human Glioblastoma through shRNA-Expressing Lentiviral Vectors. Publication Status: Online-Only, [RefSeq, PubMed]; cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [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, "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": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "Q16823;Q9BUB1", "ec_number_list": [], "go_molecular_function": "GO:0034236 protein kinase A catalytic subunit binding;GO:0019904 protein domain specific binding;GO:0004862 cAMP-dependent protein kinase inhibitor activity;GO:0008603 cAMP-dependent protein kinase regulator activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0034199 activation of protein kinase A activity;GO:0035556 intracellular signal transduction;GO:0071377 cellular response to glucagon stimulus", "synthesized_glycan_count": 0, "hit_score": 35.7, "record_id": "P13861-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q569H4-1", "uniprot_id": [ { "id": "LARGN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q569H4", "type": "external" } ], "mass": 32812.0, "length": 304, "protein_name": "Protein Largen", "gene_name": "PRR16", "organism": "Human", "refseq_name": "protein Largen isoform 1", "refseq_ac": [ { "id": "NP_001287712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287712", "type": "external" } ], "gene_names_uniprotkb": "PRR16", "gene_names_refseq": "DSC54; LARGEN; PRR16", "protein_names_uniprotkb": "Protein Largen; Mesenchymal stem cell protein DSC54; Proline-rich protein 16", "protein_names_refseq": "mesenchymal stem cell protein DSC54; proline-rich protein 16; protein Largen isoform 1; protein Largen", "tax_id": 9606, "disease": "", "pathway": " (hsa:51334)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;18507432;24656129;29485866;35051231", "class_list": "", "function": "Largen, the product of a gene PRR16, increases cell size upon overexpression in human cells., [RefSeq, PubMed]; Regulator of cell size that promotes cell size increase independently of mTOR and Hippo signaling pathways. Acts by stimulating the translation of specific mRNAs, including those encoding proteins affecting mitochondrial functions. Increases mitochondrial mass and respiration., [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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "D3DSZ0;Q8IXY1;Q9NYI5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0045727 positive regulation of translation;GO:0045793 positive regulation of cell size", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q569H4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95751-1", "uniprot_id": [ { "id": "LDOC1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95751", "type": "external" } ], "mass": 16968.0, "length": 146, "protein_name": "Protein LDOC1", "gene_name": "LDOC1", "organism": "Human", "refseq_name": "protein LDOC1", "refseq_ac": [ { "id": "NP_036449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036449", "type": "external" } ], "gene_names_uniprotkb": "LDOC1; BCUR1", "gene_names_refseq": "BCUR1; LDOC1; Mar7; Mart7; RTL7; SIRH7", "protein_names_uniprotkb": "Protein LDOC1; Leucine zipper protein down-regulated in cancer cells", "protein_names_refseq": "Sushi-Ichi retrotransposon homolog 7; breast cancer, up-regulated 1; leucine zipper down-regulated in cancer 1; leucine zipper downregulated in cancer; leucine zipper protein down-regulated in cancer cells; mammalian retrotransposon-derived 7; protein LDOC1; retrotransposon Gag like 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:23641)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10403563;12712434;15670815;21136679;25576301;26154972;27812135;29331515;29493099;29557506;29786170;30429286;31154438;31222486;31842997;31844290;31889386;32161166;32488085;32938616;33291445;33592498;33968037;34185709;35318648;35580925;36010968;36284347;37938771", "class_list": "", "function": "Acute myeloid leukemia cells secrete microRNA-4532-containing exosomes to mediate normal hematopoiesis in hematopoietic stem cells by activating the LDOC1-dependent STAT3 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; LDOC1 as Negative Prognostic Marker for Vulvar Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; LDOC1 is differentially expressed in thyroid cancer and display tumor-suppressive function in papillary thyroid carcinoma., [RefSeq, PubMed]; MZF-1 was revealed to interact with LDOC1 and enhance the activity of LDOC1 for inducing apoptosis, [RefSeq, PubMed]; May have an important role in the development and/or progression of some cancers., [UniProtKB]; The protein encoded by this gene contains a leucine zipper-like motif and a proline-rich region that shares marked similarity with an SH3-binding domain. The protein localizes to the nucleus and is down-regulated in some cancer cell lines. It is thought to regulate the transcriptional response mediated by the nuclear factor kappa B (NF-kappaB). The gene has been proposed as a tumor suppressor gene whose protein product may have an important role in the development and/or progression of some cancers. [provided by RefSeq, Jul 2008]., [RefSeq]; These observations suggest that LDOC1 is a novel regulator of NF-kappaB that can affect the PMA or TNF-alpha-mediated pathway to apoptosis through inhibition of NF-kappaB activation in BxPC3 pancreatic cancer cells., [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": 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": 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": "Q6IAR6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0071222 cellular response to lipopolysaccharide;GO:0071225 cellular response to muramyl dipeptide", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "O95751-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6Z9-1", "uniprot_id": [ { "id": "EGLN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6Z9", "type": "external" } ], "mass": 27261.0, "length": 239, "protein_name": "Prolyl hydroxylase EGLN3", "gene_name": "EGLN3", "organism": "Human", "refseq_name": "prolyl hydroxylase EGLN3 isoform 2", "refseq_ac": [ { "id": "NP_001295032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295032", "type": "external" } ], "gene_names_uniprotkb": "EGLN3", "gene_names_refseq": "EGLN3; HIFP4H3; HIFPH3; PHD3", "protein_names_uniprotkb": "Prolyl hydroxylase EGLN3; 1.14.11.-; 1.14.11.29; Egl nine homolog 3; HIF-PH3; HIF-prolyl hydroxylase 3; HPH-1; HPH-3; Hypoxia-inducible factor prolyl hydroxylase 3; PHD3; Prolyl hydroxylase domain-containing protein 3", "protein_names_refseq": "HIF-PH3; HIF-prolyl hydroxylase 3; HPH-1; HPH-3; hypoxia-inducible factor prolyl hydroxylase 3; prolyl hydroxylase EGLN3 isoform 2; prolyl hydroxylase EGLN3; prolyl hydroxylase domain-containing protein 3", "tax_id": 9606, "disease": "acute kidney failure (Disease Ontology:DOID:3021); renal cell carcinoma (Disease Ontology:DOID:4450); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:112399); (R-HSA-1234176)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10535940;10823831;10878807;10944113;10973499;11024059;11237011;11292861;11292862;11358837;11454738;11504942;11574160;11595178;11595184;11598268;12101228;12163023;12181324;12351678;12538644;12615973;12670503;12788921;12821933;12912907;15247232;15474027;15652751;15987702;16098468;16738327;17182618;17434750;17684156;18184961;18337469;19208626;19584355;20849813;20978507;21317538;21335549;21410436;21421125;21483450;21575608;21620138;22286099;22797300;24714562;27622074;29557506;31154438;31844290;31848261;32157095;32161166;32983136;33592498;33717175;34087483;34171305;34185709;34211107;35051231;35318648;35580925;36010968;36284347;36882523;38184692;38400673;38755642;40281343;9122164;9891082", "class_list": "", "function": "E3 ligase MAEA-mediated ubiquitination and degradation of PHD3 promotes glioblastoma progression., [RefSeq, PubMed]; EGLN3 attenuates gastric cancer cell malignant characteristics by inhibiting JMJD8/NF-kappaB signalling activation independent of hydroxylase activity., [RefSeq, PubMed]; Endothelial EGLN3-PKM2 signaling induces the formation of acute astrocytic barrier to alleviate immune cell infiltration after subarachnoid hemorrhage. Publication Status: Online-Only, [RefSeq, PubMed]; Low nuclear expression of HIF-hydroxylases PHD2/EGLN1 and PHD3/EGLN3 are associated with poor recurrence-free survival in clear cell renal cell carcinoma., [RefSeq, PubMed]; Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as PKM, TELO2, ATF4, GPX4 and HIF1A (PubMed:19584355, PubMed:20978507, PubMed:21483450, PubMed:21575608, PubMed:21620138, PubMed:22797300, PubMed:40281343). Target proteins are preferentially recognized via a LXXLAP motif. Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins (PubMed:11595184, PubMed:12181324). Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A (PubMed:11595184, PubMed:12181324). Also hydroxylates HIF2A (PubMed:11595184, PubMed:12181324). Has a preference for the CODD site for both HIF1A and HIF2A (PubMed:11595184, PubMed:12181324). Hydroxylation on the NODD site by EGLN3 appears to require prior hydroxylation on the CODD site (PubMed:11595184, PubMed:12181324). Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex (PubMed:11595184, PubMed:12181324). Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes (PubMed:11595184, PubMed:12181324). Acts as an inhibitor of ferroptosis by mediating hydroxylation of GPX4, thereby preventing GPX4 degradation via chaperone-mediated autophagy (PubMed:40281343). GPX4 hydroxylation is promoted by PSAT1, which provides 2-oxoglutarate substrate to EGLN3 (PubMed:40281343). ELGN3 is the most important isozyme in limiting physiological activation of HIFs (particularly HIF2A) in hypoxia. Also hydroxylates PKM in hypoxia, limiting glycolysis (PubMed:21483450, PubMed:21620138). Under normoxia, hydroxylates and regulates the stability of ADRB2 (PubMed:19584355). Regulator of cardiomyocyte and neuronal apoptosis. In cardiomyocytes, inhibits the anti-apoptotic effect of BCL2 by disrupting the BAX-BCL2 complex (PubMed:20849813). In neurons, has a NGF-induced proapoptotic effect, probably through regulating CASP3 activity (PubMed:16098468). Also essential for hypoxic regulation of neutrophilic inflammation (PubMed:21317538). Plays a crucial role in DNA damage response (DDR) by hydroxylating TELO2, promoting its interaction with ATR which is required for activation of the ATR/CHK1/p53 pathway (PubMed:22797300). Also mediates hydroxylation of ATF4, leading to decreased protein stability of ATF4 (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 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": 4, "reported_glycation": 0, "reported_snv": 3, "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": "Q2TA79;Q3B8N4;Q6P1R2", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "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": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.29", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.29", "type": "external" } ], "go_molecular_function": "GO:0008198 ferrous iron binding;GO:0031418 L-ascorbic acid binding;GO:0016706 2-oxoglutarate-dependent dioxygenase activity;GO:0031545 peptidyl-proline 4-dioxygenase activity;GO:0160082 hypoxia-inducible factor-proline dioxygenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006915 apoptotic process;GO:0071456 cellular response to hypoxia;GO:0006974 DNA damage response;GO:0050821 protein stabilization;GO:0043523 regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9H6Z9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QH2-1", "uniprot_id": [ { "id": "PRAM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QH2", "type": "external" } ], "mass": 73969.0, "length": 670, "protein_name": "PML-RARA-regulated adapter molecule 1", "gene_name": "PRAM1", "organism": "Human", "refseq_name": "PML-RARA-regulated adapter molecule 1", "refseq_ac": [ { "id": "NP_115528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115528", "type": "external" } ], "gene_names_uniprotkb": "PRAM1", "gene_names_refseq": "PML-RAR; PRAM-1; PRAM1", "protein_names_uniprotkb": "PML-RARA-regulated adapter molecule 1; PRAM-1; PRAM", "protein_names_refseq": "PML-RARA target gene encoding an Adaptor Molecule-1; PML-RARA-regulated adapter molecule 1; PRAM", "tax_id": 9606, "disease": "", "pathway": " (hsa:84106)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;11301322;15572693;15637062;16831444;19608861;20873783;26992070;27862975;29557506;30379171;31154438;31530632;31611695;31844290;31848261;32265295;32387766;32983136;33123756;33298915;33392160;33912179;34047481;34211107;34448811;35051231;35580925;39894887", "class_list": "", "function": "Caspase 3-cleaved SH3 domain of HIP-55 is likely involved in PRAM-1-mediated JNK activation upon arsenic trioxide-induced differentiation of NB4 cells., [RefSeq, PubMed]; KDM5A suppresses PML-RARalpha target gene expression and APL differentiation through repressing H3K4me2. Erratum:[Blood Adv. 2022 Apr 12;6(7):2443. doi: 10.1182/bloodadvances.2021006376. PMID: 35404434], [RefSeq, PubMed]; May be involved in myeloid differentiation. May be involved in integrin signaling in neutrophils. Binds to PtdIns(4)P., [UniProtKB]; NRF2 activation induced by PML-RARalpha promotes microRNA 125b-1 expression and confers resistance to chemotherapy in acute promyelocytic leukemia., [RefSeq, PubMed]; PRAM-1 is required for optimal integrin-dependent neutrophil function., [RefSeq, PubMed]; The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "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": "Q8N6W7", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0007229 integrin-mediated signaling pathway;GO:0072659 protein localization to plasma membrane;GO:0050852 T cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q96QH2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYG5-1", "uniprot_id": [ { "id": "PAR6B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYG5", "type": "external" } ], "mass": 41182.0, "length": 372, "protein_name": "Partitioning defective 6 homolog beta", "gene_name": "PARD6B", "organism": "Human", "refseq_name": "partitioning defective 6 homolog beta", "refseq_ac": [ { "id": "NP_115910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115910", "type": "external" } ], "gene_names_uniprotkb": "PARD6B; PAR6B", "gene_names_refseq": "PAR6B; PARD6B", "protein_names_uniprotkb": "Partitioning defective 6 homolog beta; PAR-6 beta; PAR-6B", "protein_names_refseq": "PAR-6 beta; par-6 partitioning defective 6 homolog beta; partitioning defective 6 homolog beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:84612); (R-HSA-420029); (R-HSA-9013424)", "pathway_count": 3, "publication_count": 48, "publication_id_list": "11260256;11447115;11964389;12234671;12725730;12953056;14521508;15254234;16129888;17355222;19664995;21406692;22339630;23186163;25576301;25662318;27600516;28218747;28649982;28834231;28904123;29242379;29331515;29557506;30315122;30429286;30524438;30779550;31154438;31530632;31844290;31871319;32157095;32357974;32387766;32488085;32938616;33298915;33968037;33981976;34087483;34561969;35051231;35318648;35580925;36241641;36284347;9778532", "class_list": "", "function": "Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins., [UniProtKB]; This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. [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, "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": 2, "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": "A2A2A7;Q9Y510", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0005938 cell cortex", "go_biological_process": "GO:0060341 regulation of cellular localization;GO:0007409 axonogenesis;GO:0051301 cell division;GO:0030334 regulation of cell migration;GO:0007043 cell-cell junction assembly", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9BYG5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11387-1", "uniprot_id": [ { "id": "TOP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P11387", "type": "external" } ], "mass": 90726.0, "length": 765, "protein_name": "DNA topoisomerase 1", "gene_name": "TOP1", "organism": "Human", "refseq_name": "DNA topoisomerase 1", "refseq_ac": [ { "id": "NP_003277", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003277", "type": "external" } ], "gene_names_uniprotkb": "TOP1", "gene_names_refseq": "TOP1; TOPI", "protein_names_uniprotkb": "DNA topoisomerase 1; 5.6.2.1; DNA topoisomerase I", "protein_names_refseq": "DNA topoisomerase 1; Scl-70 antigen; topoisomerase (DNA) I; type I DNA topoisomerase", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:7150); (R-HSA-4615885)", "pathway_count": 2, "publication_count": 154, "publication_id_list": "10.1101/2023.09.13.557529;10556215;10759568;10841763;10862613;11237011;11709553;12149243;12209008;12426403;12533542;12750860;12832072;1332703;14594810;15165849;15249326;15448168;15801827;15931174;15989970;16033260;16461796;16735104;16959974;17081983;17183683;18003733;18381449;18394993;18408216;18452278;1849260;1851751;18669648;18946085;19168442;19413330;19596686;19608861;19651622;20068231;20663916;21167178;21406692;21554500;2176592;22457066;22464730;22706990;22904072;23185622;23186163;23213405;24366607;24397554;2461859;24782567;2479024;25114211;25218447;2544263;25576301;25755297;25772364;25880248;26030138;26154972;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28228285;2833744;28510447;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29532871;29557506;29632046;29632711;29769354;29786170;29930882;30315122;30429286;30524438;31217245;31844290;32119511;32157095;32162841;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34405274;34509645;34561969;34725712;34932366;35051231;35310606;35494241;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37831776;38340342;38665916;38710779;38787953;38944174;40596516;40914422;7882333;9488644;9488652", "class_list": "", "function": "CircTOP1 targeted regulation of PTBP1 expression promotes the progression of coronary artery calcification., [RefSeq, PubMed]; Coinhibition of topoisomerase 1 and BRD4-mediated pause release selectively kills pancreatic cancer via readthrough transcription., [RefSeq, PubMed]; G-quadruplexes on chromosomal DNA negatively regulates topoisomerase 1 activity., [RefSeq, PubMed]; Human DNA topoisomerase I poisoning causes R loop-mediated genome instability attenuated by transcription factor IIS., [RefSeq, PubMed]; Levels of anti-topoisomerase I antibody correlated with short onset of cardiopulmonary involvement in Thai systemic sclerosis patients. Publication Status: Online-Only, [RefSeq, PubMed]; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus removing DNA supercoils. Finally, in the religation step, the DNA 5'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells. Involved in the circadian transcription of the core circadian clock component BMAL1 by altering the chromatin structure around the ROR response elements (ROREs) on the BMAL1 promoter., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [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, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8KA78;E1P5W3;O43256;Q12855;Q12856;Q15610;Q5TFY3;Q9UJN0", "ec_number_list": [ { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" } ], "go_molecular_function": "GO:0008301 DNA binding, bending;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0004674 protein serine/threonine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0043204 perikaryon;GO:0001650 fibrillar center", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0007059 chromosome segregation;GO:0010332 response to gamma radiation;GO:0006260 DNA replication;GO:0009266 response to temperature stimulus", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "P11387-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N386-1", "uniprot_id": [ { "id": "LRC25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N386", "type": "external" } ], "mass": 33179.0, "length": 305, "protein_name": "Leucine-rich repeat-containing protein 25", "gene_name": "LRRC25", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 25 precursor", "refseq_ac": [ { "id": "NP_660299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660299", "type": "external" } ], "gene_names_uniprotkb": "LRRC25; MAPA; PRO20174", "gene_names_refseq": "LRRC25; MAPA", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 25; Monocyte and plasmacytoid-activated protein", "protein_names_refseq": "leucine-rich repeat-containing protein 25 precursor; leucine-rich repeat-containing protein 25; monocyte and plasmacytoid activated molecule; monocyte and plasmacytoid-activated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:126364)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "12384430;12975309;28218747;28536942;28904123;29044191;29288164;29437277;30315122;30340835;33968037;34357683;35051231", "class_list": "", "function": "LRRC25 as a critical molecular switch whose down-regulation resulted in cardiac hypertrophy in a TGF-beta1- and NF-kappaB-dependent manner., [RefSeq, PubMed]; LRRC25, a potential leukocyte differentiation antigen, is a key regulator of all-trans retinoic acid-induced granulocytic differentiation, [RefSeq, PubMed]; Our study has not only identified LRRC25 as a novel inhibitor of NF-kappaB signaling pathway, but also uncovers a new mechanism of crosstalk between NF-kappaB signaling and autophagy pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the inhibition of RLR-mediated type I interferon signaling pathway by targeting RIGI for autophagic degradation. Interacts specifically with ISG15-associated RIGI to promote interaction between RIGI and the autophagic cargo receptor p62/SQSTM1 to mediate RIGI degradation via selective autophagy (PubMed:29288164). Also plays a role in the inhibition of NF-kappa-B signaling pathway and inflammatory response by promoting the degradation of p65/RELA., [UniProtKB, PubMed, PubMed, PubMed]; The findings identify a previously unrecognized role of LRRC25 in type I interferon signaling activation by which LRRC25 acts as a secondary receptor to assist RIG-I delivery to autophagosomes for degradation in a p62-dependent manner., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "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": 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": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6IQ00;Q8N9A5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8N386-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75031-1", "uniprot_id": [ { "id": "HSF2B_HUMAN", "url": "https://www.uniprot.org/uniprot/O75031", "type": "external" } ], "mass": 37645.0, "length": 334, "protein_name": "Heat shock factor 2-binding protein", "gene_name": "HSF2BP", "organism": "Human", "refseq_name": "heat shock factor 2-binding protein", "refseq_ac": [ { "id": "NP_008962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962", "type": "external" } ], "gene_names_uniprotkb": "HSF2BP; MEILB2", "gene_names_refseq": "HSF2BP; MEILB2; POF19", "protein_names_uniprotkb": "Heat shock factor 2-binding protein", "protein_names_refseq": "heat shock factor 2-binding protein; meiotic localizer of BRCA2", "tax_id": 9606, "disease": "primary ovarian insufficiency 19 (Disease Ontology:DOID:0112278)", "pathway": " (hsa:11077)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;17709345;23481700;29557506;29786170;30524438;31242413;31844290;31960047;32157095;32387766;32502341;32845237;32938616;33392160;33592498;33912179;34326328;34373645;35051231;9651507", "class_list": "", "function": "BRCA2 binding through a cryptic repeated motif to HSF2BP oligomers does not impact meiotic recombination. Publication Status: Online-Only, [RefSeq, PubMed]; HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008]., [RefSeq]; Meiotic recombination factor component of recombination bridges involved in meiotic double-strand break repair. Modulates the localization of recombinases DMC1:RAD51 to meiotic double-strand break (DSB) sites through the interaction with BRCA2 and its recruitment during meiotic recombination (By similarity) (PubMed:31242413). Indispensable for the DSB repair, homologous synapsis, and crossover formation that are needed for progression past metaphase I, is essential for spermatogenesis and male fertility (By similarity). Required for proper recombinase recruitment in female meiosis (By similarity). Inhibits BNC1 transcriptional activity during spermatogenesis, probably by sequestering it in the cytoplasm (By similarity). May be involved in modulating HSF2 activation in testis (PubMed:9651507)., [UniProtKB, UniProtKB, PubMed, PubMed]; Naturally occurring elevated production of HSF2BP in tumors may be a source of cancer-promoting genomic instability and also a targetable vulnerability., [RefSeq, PubMed]; Structure of a meiosis-specific complex central to BRCA2 localization at recombination sites., [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": 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": 1, "reported_glycation": 0, "reported_snv": 2, "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": "B4DX36", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005694 chromosome", "go_biological_process": "GO:0007144 female meiosis I;GO:0007283 spermatogenesis;GO:0006366 transcription by RNA polymerase II;GO:1990918 double-strand break repair involved in meiotic recombination;GO:0007141 male meiosis I", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "O75031-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08238-1", "uniprot_id": [ { "id": "HS90B_HUMAN", "url": "https://www.uniprot.org/uniprot/P08238", "type": "external" } ], "mass": 83264.0, "length": 724, "protein_name": "Heat shock protein HSP 90-beta", "gene_name": "HSP90AB1", "organism": "Human", "refseq_name": "heat shock protein HSP 90-beta isoform a", "refseq_ac": [ { "id": "NP_001258898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258898", "type": "external" } ], "gene_names_uniprotkb": "HSP90AB1; HSP90B; HSPC2; HSPC3; HSPCB", "gene_names_refseq": "D6S182; HSP84; HSP90AB1; HSP90B; HSPC2; HSPCB", "protein_names_uniprotkb": "Heat shock protein HSP 90-beta; HSP 84; HSP 90; HSP84; Heat shock 84 kDa; Heat shock protein family C member 3", "protein_names_refseq": "HSP90-beta; heat shock 84 kDa; heat shock 90kD protein 1, beta; heat shock protein 90 kDa; heat shock protein 90kDa alpha (cytosolic), class B member 1; heat shock protein 90kDa alpha family class B member 1; heat shock protein HSP 90-beta isoform a; heat shock protein HSP 90-beta; heat shock protein family C member 3", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); multiple sclerosis (Disease Ontology:DOID:2377); pulmonary fibrosis (Disease Ontology:DOID:3770); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); pancreatitis (Disease Ontology:DOID:4989); muscular atrophy (Disease Ontology:DOID:767)", "pathway": " (hsa:3326); (R-HSA-168928); (R-HSA-2029482); (R-HSA-3371497); (R-HSA-3371511); (R-HSA-3371568); (R-HSA-3371571); (R-HSA-399954); (R-HSA-5336415); (R-HSA-6798695); (R-HSA-844456); (R-HSA-8852276); (R-HSA-8937144); (R-HSA-8939211); (R-HSA-9013418); (R-HSA-9018519); (R-HSA-9613829); (R-HSA-9660826); (R-HSA-9679191); (R-HSA-9705671); (R-HSA-9820962); (R-HSA-9834752); (R-HSA-9920588)", "pathway_count": 23, "publication_count": 708, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Binding to N.meningitidis NadA stimulates monocytes (PubMed:21949862). Seems to interfere with N.meningitidis NadA-mediated invasion of human cells (Probable)., [UniProtKB, PubMed, PubMed]; Dissecting the functional significance of HSP90AB1 and other heat shock proteins in countering glioblastomas and ependymomas using omics analysis and drug prediction using virtual screening., [RefSeq, PubMed]; HSP90beta controls NLRP3 autoactivation., [RefSeq, PubMed]; Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle linked to its ATPase activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function (PubMed:16478993, PubMed:19696785). Engages with a range of client protein classes via its interaction with various co-chaperone proteins or complexes, that act as adapters, simultaneously able to interact with the specific client and the central chaperone itself. Recruitment of ATP and co-chaperone followed by client protein forms a functional chaperone. After the completion of the chaperoning process, properly folded client protein and co-chaperone leave HSP90 in an ADP-bound partially open conformation and finally, ADP is released from HSP90 which acquires an open conformation for the next cycle (PubMed:26991466, PubMed:27295069). Apart from its chaperone activity, it also plays a role in the regulation of the transcription machinery. HSP90 and its co-chaperones modulate transcription at least at three different levels. They first alter the steady-state levels of certain transcription factors in response to various physiological cues. Second, they modulate the activity of certain epigenetic modifiers, such as histone deacetylases or DNA methyl transferases, and thereby respond to the change in the environment. Third, they participate in the eviction of histones from the promoter region of certain genes and thereby turn on gene expression (PubMed:25973397). Antagonizes STUB1-mediated inhibition of TGF-beta signaling via inhibition of STUB1-mediated SMAD3 ubiquitination and degradation (PubMed:24613385). Promotes cell differentiation by chaperoning BIRC2 and thereby protecting from auto-ubiquitination and degradation by the proteasomal machinery (PubMed:18239673). Main chaperone involved in the phosphorylation/activation of the STAT1 by chaperoning both JAK2 and PRKCE under heat shock and in turn, activates its own transcription (PubMed:20353823). Involved in the translocation into ERGIC (endoplasmic reticulum-Golgi intermediate compartment) of leaderless cargos (lacking the secretion signal sequence) such as the interleukin 1/IL-1; the translocation process is mediated by the cargo receptor TMED10 (PubMed:32272059)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the heat shock protein 90 family; these proteins are involved in signal transduction, protein folding and degradation and morphological evolution. This gene encodes the constitutive form of the cytosolic 90 kDa heat-shock protein and is thought to play a role in gastric apoptosis and inflammation. Alternative splicing results in multiple transcript variants. Pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Dec 2012]., [RefSeq]", "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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 6, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2R5P0;Q5T9W7;Q9NQW0;Q9NTK6", "ec_number_list": [], "go_molecular_function": "GO:0030911 TPR domain binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0045429 positive regulation of nitric oxide biosynthetic process;GO:2000010 positive regulation of protein localization to cell surface;GO:0034605 cellular response to heat;GO:0032880 regulation of protein localization;GO:0045597 positive regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 72.0, "record_id": "P08238-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13885-1", "uniprot_id": [ { "id": "TBB2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13885", "type": "external" } ], "mass": 49907.0, "length": 445, "protein_name": "Tubulin beta-2A chain", "gene_name": "TUBB2A", "organism": "Human", "refseq_name": "tubulin beta-2A chain isoform 1", "refseq_ac": [ { "id": "NP_001060", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001060", "type": "external" } ], "gene_names_uniprotkb": "TUBB2A; TUBB2", "gene_names_refseq": "CDCBM5; TUBB2A; TUBB2; TUBB", "protein_names_uniprotkb": "Tubulin beta-2A chain; Tubulin beta class IIa", "protein_names_refseq": "class IIa beta-tubulin; tubulin beta-2A chain isoform 1; tubulin beta-2A chain; tubulin, beta 2A; tubulin, beta polypeptide 2", "tax_id": 9606, "disease": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (Disease Ontology:DOID:0050997); ptosis (Disease Ontology:DOID:0060260); complex cortical dysplasia with other brain malformations 7 (Disease Ontology:DOID:0090132); complex cortical dysplasia with other brain malformations 5 (Disease Ontology:DOID:0090135); tubulinopathy (Disease Ontology:DOID:0112227); facial paralysis (Disease Ontology:DOID:13934)", "pathway": " (hsa:7280); (R-HSA-1445148); (R-HSA-190840); (R-HSA-190861); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3371497); (R-HSA-380320); (R-HSA-389957); (R-HSA-389960); (R-HSA-389977); (R-HSA-437239); (R-HSA-5610787); (R-HSA-5620920); (R-HSA-5620924); (R-HSA-5626467); (R-HSA-5663220); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8852276); (R-HSA-8955332); (R-HSA-9609690); (R-HSA-9609736); (R-HSA-9619483); (R-HSA-9646399); (R-HSA-9648025); (R-HSA-9668328); (R-HSA-983189); (R-HSA-9833482)", "pathway_count": 32, "publication_count": 794, "publication_id_list": 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"class_list": "", "function": "Circular RNA circ_C16orf62 Suppresses Cell Growth in Gastric Cancer by miR-421/Tubulin beta-2A Chain (TUBB2A) Axis. Publication Status: Online-Only, [RefSeq, PubMed]; Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy., [RefSeq, PubMed]; Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]., [RefSeq]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin., [UniProtKB]; Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation., [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": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6FGZ8;Q8IWR2", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0001764 neuron migration;GO:0021987 cerebral cortex development;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 80.3, "record_id": "Q13885-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX59-1", "uniprot_id": [ { "id": "TPSNR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX59", "type": "external" } ], "mass": 50183.0, "length": 468, "protein_name": "Tapasin-related protein", "gene_name": "TAPBPL", "organism": "Human", "refseq_name": "tapasin-related protein isoform 1 precursor", "refseq_ac": [ { "id": "NP_060479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060479", "type": "external" } ], "gene_names_uniprotkb": "TAPBPL", "gene_names_refseq": "TAPBP-R; TAPBPL; TAPBPR", "protein_names_uniprotkb": "Tapasin-related protein; TAP-binding protein-like; TAP-binding protein-related protein; TAPASIN-R; TAPBP-R; Tapasin-like", "protein_names_refseq": "TAP binding protein related; TAP-binding protein-related protein; TAPASIN-R; tapasin-like; tapasin-related protein isoform 1 precursor; tapasin-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55080)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;11920573;15340161;18340469;19204726;19773279;23401559;24444341;25418920;25505266;25576301;25880248;26154972;26811146;26869717;27846572;27862975;27920218;28832583;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29786170;30429286;30484775;31530632;31844290;31848261;32157095;32265295;32357974;32938616;32958637;33123756;33298915;33592498;33912179;34039964;34052734;34171305;34265495;34357683;35051231;35494241;35580925;35725941;36010968;37295041;37345806", "class_list": "", "function": "Component of the antigen processing and presentation pathway, which binds to MHC class I coupled with beta2-microglobulin/B2M. Association between TAPBPR and MHC class I occurs in the absence of a functional peptide-loading complex (PLC)., [UniProtKB, PubMed, PubMed]; Get into the groove! The influence of TAPBPR on cargo selection. Review article, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; TAPBPR promotes antigen loading on MHC-I molecules using a peptide trap. Publication Status: Online-Only, [RefSeq, PubMed]; Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008]., [RefSeq]; The ER folding sensor UGGT1 acts on TAPBPR-chaperoned peptide-free MHC I. Publication Status: Online-Only, [RefSeq, PubMed]; The role of MHC I protein dynamics in tapasin and TAPBPR-assisted immunopeptidome editing. Review article, [RefSeq, PubMed]; Why TAPBPR? Implications of an additional player in MHC class I peptide presentation. Review article, [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": 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": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 5, "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": "Q9NWB8", "ec_number_list": [], "go_molecular_function": "GO:0023024 MHC class I protein complex binding;GO:0062061 TAP complex binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0042824 MHC class I peptide loading complex", "go_biological_process": "GO:0002502 peptide antigen assembly with MHC class I protein complex;GO:0002590 negative regulation of antigen processing and presentation of peptide antigen via MHC class I", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9BX59-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94875-1", "uniprot_id": [ { "id": "SRBS2_HUMAN", "url": "https://www.uniprot.org/uniprot/O94875", "type": "external" } ], "mass": 124108.0, "length": 1100, "protein_name": "Sorbin and SH3 domain-containing protein 2", "gene_name": "SORBS2", "organism": "Human", "refseq_name": "sorbin and SH3 domain-containing protein 2 isoform 3", "refseq_ac": [ { "id": "NP_001139142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139142", "type": "external" } ], "gene_names_uniprotkb": "SORBS2; ARGBP2; KIAA0777", "gene_names_refseq": "ARGBP2; PRO0618; SORBS2", "protein_names_uniprotkb": "Sorbin and SH3 domain-containing protein 2; Arg-binding protein 2; Arg/Abl-interacting protein 2; ArgBP2; Sorbin", "protein_names_refseq": "Arg binding protein 2; Arg/Abl-interacting protein 2; arg-binding protein 2; sorbin and SH3 domain-containing protein 2 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:8470)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;11786189;12475393;15302935;15784622;16125169;17081983;17924679;18212344;18559503;18669648;19651622;20068230;20068231;20112406;20166139;24275569;25645385;25880248;26154972;26811146;27825083;27862975;27920218;28228285;28657654;28904123;29393594;29557506;29632046;31217245;31844290;32157095;32357974;32905431;32938616;33298915;33311452;33912179;33968037;34211107;34357683;35051231;35289036;35494241;35580925;36215666;36284347;37074911;38501385;38555055;38995729;9211900", "class_list": "", "function": "Adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL kinases and actin cytoskeleton. Can form complex with ABL1 and CBL, thus promoting ubiquitination and degradation of ABL1. May play a role in the regulation of pancreatic cell adhesion, possibly by acting on WASF1 phosphorylation, enhancing phosphorylation by ABL1, as well as dephosphorylation by PTPN12 (PubMed:18559503). Isoform 6 increases water and sodium absorption in the intestine and gall-bladder., [UniProtKB, PubMed, PubMed, PubMed]; Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; RNA-binding protein SORBS2 increases human trophoblast cell migration via stabilizing HK2 mRNA in preeclampsia. Publication Status: Online-Only, [RefSeq, PubMed]; Sorbs2 regulates seizure activity by influencing AMPAR-mediated excitatory synaptic transmission in temporal lobe epilepsy., [RefSeq, PubMed]; The RNA-binding protein sorbin and SH3 domain-containing 2 are transcriptionally regulated by specificity protein 1 and function as tumor suppressors in bladder cancer by stabilizing tissue factor pathway inhibitor., [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": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 42, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NEK9;B3KPQ7;B7Z1G5;B7Z3X6;C9JKV9;D3DP62;D3DP63;E9PAS5;E9PAW4;G3XAI0;H7BXR4;J3KNZ5;O60592;O60593;Q96EX0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005200 structural constituent of cytoskeleton;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0008093 cytoskeletal anchor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0030027 lamellipodium", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0007010 cytoskeleton organization;GO:0061049 cell growth involved in cardiac muscle cell development", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "O94875-1", "record_type": "protein", "filter_code": "0001000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14980-1", "uniprot_id": [ { "id": "XPO1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14980", "type": "external" } ], "mass": 123386.0, "length": 1071, "protein_name": "Exportin-1", "gene_name": "XPO1", "organism": "Human", "refseq_name": "exportin-1 isoform 1", "refseq_ac": [ { "id": "NP_003391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003391", "type": "external" } ], "gene_names_uniprotkb": "XPO1; CRM1", "gene_names_refseq": "CRM-1; CRM1; XPO1; emb; exp1", "protein_names_uniprotkb": "Exportin-1; Chromosome region maintenance 1 protein homolog; Exp1", "protein_names_refseq": "chromosome region maintenance 1 homolog; chromosome region maintenance 1 protein homolog; exportin 1 (CRM1 homolog, yeast); exportin-1 (required for chromosome region maintenance); exportin-1 isoform 1", "tax_id": 9606, "disease": "colorectal carcinoma (Disease Ontology:DOID:0080199); stomach cancer (Disease Ontology:DOID:10534); pancreatic cancer (Disease Ontology:DOID:1793); gastric adenocarcinoma (Disease Ontology:DOID:3717); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); extrahepatic bile duct carcinoma (Disease Ontology:DOID:4682); stomach carcinoma (Disease Ontology:DOID:5517); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:7514); (R-HSA-141430); (R-HSA-141444); (R-HSA-165054); (R-HSA-168333); (R-HSA-2173788); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3769402); (R-HSA-450520); (R-HSA-5663220); (R-HSA-5687128); (R-HSA-68877); (R-HSA-69273); (R-HSA-9634638); (R-HSA-9648025); (R-HSA-9707616); (R-HSA-9768919); (R-HSA-9828806); (R-HSA-9856649); (R-HSA-9918432)", "pathway_count": 21, "publication_count": 547, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Mediates the export of unspliced or incompletely spliced RNAs out of the nucleus from different viruses including HIV-1, HTLV-1 and influenza A. Interacts with, and mediates the nuclear export of HIV-1 Rev and HTLV-1 Rex proteins. Involved in HTLV-1 Rex multimerization., [UniProtKB, PubMed, PubMed]; CRM1 expression: association with high prognostic value in laryngeal cancer., [RefSeq, PubMed]; Exportin 1 governs the immunosuppressive functions of myeloid-derived suppressor cells in tumors through ERK1/2 nuclear export., [RefSeq, PubMed]; HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1. Erratum:[Commun Biol. 2025 Oct 4;8(1):1424. doi: 10.1038/s42003-025-08894-z. PMID: 41046265] Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the nuclear export of cellular proteins (cargos) bearing a leucine-rich nuclear export signal (NES) and of RNAs. In the nucleus, in association with RANBP3, binds cooperatively to the NES on its target protein and to the GTPase RAN in its active GTP-bound form (Ran-GTP). Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Involved in U3 snoRNA transport from Cajal bodies to nucleoli. Binds to late precursor U3 snoRNA bearing a TMG cap., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The nuclear export protein XPO1 provides a peptide ligand for natural killer cells., [RefSeq, PubMed]; This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jan 2015]., [RefSeq]; XPO1-Mediated mRNA Export of Genome Maintenance Regulators Drives Chemotherapy Resistance in Aggressive Lymphoma., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NL14;A8K1K5;D6W5E2;Q63HP8;Q68CP3;Q99433", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019904 protein domain specific binding;GO:0031267 small GTPase binding;GO:0005049 nuclear export signal receptor activity;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0000055 ribosomal large subunit export from nucleus;GO:0071401 cellular response to triglyceride;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006406 mRNA export from nucleus;GO:0006913 nucleocytoplasmic transport", "synthesized_glycan_count": 0, "hit_score": 55.1, "record_id": "O14980-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07910-1", "uniprot_id": [ { "id": "HNRPC_HUMAN", "url": "https://www.uniprot.org/uniprot/P07910", "type": "external" } ], "mass": 33670.0, "length": 306, "protein_name": "Heterogeneous nuclear ribonucleoproteins C1/C2", "gene_name": "HNRNPC", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoproteins C1/C2 isoform a", "refseq_ac": [ { "id": "NP_001070910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070910", "type": "external" } ], "gene_names_uniprotkb": "HNRNPC; HNRPC", "gene_names_refseq": "HNRNPC; HNRNP; HNRPC; MRD74; SNRPC", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoproteins C1/C2; hnRNP C1/C2", "protein_names_refseq": "heterogeneous nuclear ribonucleoprotein C (C1/C2); heterogeneous nuclear ribonucleoproteins C1/C2 isoform a; hnRNP C1/C2; nuclear ribonucleoprotein particle C1 protein; nuclear ribonucleoprotein particle C2 protein", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 74 (Disease Ontology:DOID:0061047); atherosclerosis (Disease Ontology:DOID:1936); cervical cancer (Disease Ontology:DOID:4362)", "pathway": " (hsa:3183); (R-HSA-4570464); (R-HSA-72163); (R-HSA-72203); (R-HSA-9013418); (R-HSA-9013422); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 8, "publication_count": 263, "publication_id_list": "10669729;10882114;11014198;11060040;11101529;11162094;11233976;11237011;11687588;11747608;11991638;12176931;12196509;12411573;12414731;12477934;12509468;12564933;1380452;1385725;14519844;14625303;14654843;14713954;14749727;14762106;15037765;15082759;15084397;15107402;15161980;15302935;15565158;15687492;15936032;16010978;16314458;16807684;16809785;17081983;17095540;17128255;17287340;17289661;17322306;17332742;17606899;17693683;18212344;18288197;18318008;18322460;18452278;18491316;18494499;18593880;18669648;18691976;18835386;18991276;19103666;19165350;19217410;19367720;19413330;19536130;19596686;19651622;19664995;19690332;19748539;20058876;20068231;20166139;20305658;20423332;20695905;20797632;20797634;20934997;20980672;21295486;21406692;21536652;21647297;21740066;2176635;21911577;22110043;22121020;22365833;22813749;22825850;22959432;22961380;23092970;23186163;23222130;23236153;23301498;23345524;23874216;24076191;24149845;24196718;24275569;24304693;24316715;24366607;24407421;24448447;24608665;24715725;24737827;24782567;24914973;24981863;25114211;25218447;25301780;25301781;25555158;2557628;25576301;2558966;25678563;25719671;25755297;25772364;25802875;25810538;2587210;25880248;26092250;26154972;26385511;26420826;26811146;26969736;26992070;27108190;27314390;27377154;27459055;27683217;27920218;27941885;28062851;28076346;28096519;28218747;28228285;28489076;28502770;28510447;28781166;28832583;28904123;28911096;29186539;29242379;29274231;29301961;29317506;29360106;29361316;29393594;29493099;29508533;29557506;29632711;2963332;29902443;30139799;30192525;30257008;30315122;30315277;30524438;30599162;30705154;30728453;30765414;30896450;30975767;3110598;31154438;31222486;31364055;31409651;31431478;31611695;31844290;31871319;32119511;32157095;32179686;32329775;32350084;32387766;32494006;32522876;32816001;32897882;32938616;33043033;33091337;33141586;33177556;33214551;33243851;33392160;33446560;33465208;33592498;33936100;33968037;33981976;34019948;34301950;34357683;34405274;34509645;34561969;34725712;34822310;35008409;35051231;35083852;35154160;35177536;35215846;35251023;35385551;35580925;36284347;37217939;37541189;3757028;37599448;37938771;38538536;38665916;38830885;38948930;39375330;40596516;40914422;7567451;8264621;8352591;8566756;8608946;9016565;9242493;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "Binds pre-mRNA and nucleates the assembly of 40S hnRNP particles (PubMed:8264621). Interacts with poly-U tracts in the 3'-UTR or 5'-UTR of mRNA and modulates the stability and the level of translation of bound mRNA molecules (PubMed:12509468, PubMed:16010978, PubMed:7567451, PubMed:8264621). Single HNRNPC tetramers bind 230-240 nucleotides. Trimers of HNRNPC tetramers bind 700 nucleotides (PubMed:8264621). May play a role in the early steps of spliceosome assembly and pre-mRNA splicing. N6-methyladenosine (m6A) has been shown to alter the local structure in mRNAs and long non-coding RNAs (lncRNAs) via a mechanism named 'm(6)A-switch', facilitating binding of HNRNPC, leading to regulation of mRNA splicing (PubMed:25719671)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Binds pre-mRNA and nucleates the assembly of 40S hnRNP particles. Interacts with poly-U tracts in the 3'-UTR or 5'-UTR of mRNA and modulates the stability and the level of translation of bound mRNA molecules. Single HNRNPC tetramers bind 230-240 nucleotides. Trimers of HNRNPC tetramers bind 700 nucleotides. May play a role in the early steps of spliceosome assembly and pre-mRNA splicing. N6-methyladenosine (m6A) has been shown to alter the local structure in mRNAs and long non-coding RNAs (lncRNAs) via a mechanism named 'm(6)A-switch', facilitating binding of HNRNPC, leading to regulation of mRNA splicing., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; DUSP3 modulates IRES-dependent translation of mRNAs through dephosphorylation of the HNRNPC protein in cells under genotoxic stimulus., [RefSeq, PubMed]; HNRNPC mediates lymphatic metastasis of cervical cancer through m6A-dependent alternative splicing of FOXM1. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of RNA-binding protein hnRNP C targeting the 3'UTR of the TAP-associated glycoprotein tapasin in melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; The m6A reader HNRNPC promotes glioma progression by enhancing the stability of IRAK1 mRNA through the MAPK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [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, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 29, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DS19;D3DS22;P22628;Q53EX2;Q59FD3;Q5FWE8;Q86SF8;Q86U45;Q96HK7;Q96HM4;Q96IY5;Q9BTS3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0003730 mRNA 3'-UTR binding;GO:0008266 poly(U) RNA binding;GO:0070034 telomerase RNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0032211 negative regulation of telomere maintenance via telomerase;GO:0008380 RNA splicing;GO:0001649 osteoblast differentiation;GO:0070935 3'-UTR-mediated mRNA stabilization", "synthesized_glycan_count": 0, "hit_score": 26.7, "record_id": "P07910-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5A7-1", "uniprot_id": [ { "id": "NUB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5A7", "type": "external" } ], "mass": 70538.0, "length": 615, "protein_name": "NEDD8 ultimate buster 1", "gene_name": "NUB1", "organism": "Human", "refseq_name": "NEDD8 ultimate buster 1 isoform 1", "refseq_ac": [ { "id": "NP_001230280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230280", "type": "external" } ], "gene_names_uniprotkb": "NUB1; NYREN18", "gene_names_refseq": "BS4; NUB1L; NUB1; NYREN18", "protein_names_uniprotkb": "NEDD8 ultimate buster 1; Negative regulator of ubiquitin-like proteins 1; Renal carcinoma antigen NY-REN-18", "protein_names_refseq": "NEDD8 ultimate buster 1 isoform 1; NEDD8 ultimate buster-1; renal carcinoma antigen NY-REN-18", "tax_id": 9606, "disease": "", "pathway": " (hsa:51667)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "10508479;11237011;11259415;11585840;12374762;12816948;14757770;15081406;15347646;16707496;17074750;22645359;24366607;24714562;24715725;25422469;25576301;25645385;25880248;26154972;26375851;26728094;26992070;27600516;27846572;27920218;28063628;28649982;28832583;28834231;28860189;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29786170;30524438;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34847450;34932366;35051231;35318648;35561310;35580925;36215666;36241641;36284347;37188463;38838015", "class_list": "", "function": "Data show that aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) can modulate protein translocation and act in a chaperone-like manner and suggest that AIPL1 is an important modulator of NEDD8 ultimate buster protein 1 (NUB1) cellular function., [RefSeq, PubMed]; FAT10 and NUB1L cooperate to activate the 26S proteasome. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction between NUB1 and AIPL1 is affected in patients with Leber congenital amaurosis, [RefSeq, PubMed]; NUB1 has a splicing variant, NUB1L, which regulates the NEDD8 conjugation system, [RefSeq, PubMed]; SNHG12 regulates biological behaviors of ox-LDL-induced HA-VSMCs through upregulation of SPRY2 and NUB1., [RefSeq, PubMed]; Specific down-regulator of the NEDD8 conjugation system. Recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. Isoform 1 promotes the degradation of NEDD8 more efficiently than isoform 2., [UniProtKB, PubMed]; This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [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": 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": 0, "reported_mutagensis": 6, "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": "O95422;Q75MR9;Q8IX22;Q9BXR2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0097413 Lewy body;GO:0005634 nucleus", "go_biological_process": "GO:0034612 response to tumor necrosis factor;GO:0016567 protein ubiquitination;GO:0010498 proteasomal protein catabolic process;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9Y5A7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14745-1", "uniprot_id": [ { "id": "NHRF1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14745", "type": "external" } ], "mass": 38868.0, "length": 358, "protein_name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1", "gene_name": "NHERF1", "organism": "Human", "refseq_name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1", "refseq_ac": [ { "id": "NP_004243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004243", "type": "external" } ], "gene_names_uniprotkb": "NHERF1; NHERF; SLC9A3R1", "gene_names_refseq": "EBP50; NHE-RF; NHERF-1; NHERF1; NHERF; NPHLOP2; SLC9A3R1", "protein_names_uniprotkb": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1; EBP50; Ezrin-radixin-moesin-binding phosphoprotein 50; NHERF-1; Regulatory cofactor of Na(+)/H(+) exchanger; Sodium-hydrogen exchanger regulatory factor 1; Solute carrier family 9 isoform A3 regulatory factor 1", "protein_names_refseq": "Na(+)/H(+) exchange regulatory cofactor 1; Na(+)/H(+) exchange regulatory cofactor NHE-RF1; Na+/H+ exchange regulatory co-factor; SLC9A3 regulator 1; ezrin-radixin-moesin binding phosphoprotein-50; regulatory cofactor of Na(+)/H(+) exchanger; solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); hypophosphatemic nephrolithiasis/osteoporosis 2 (Disease Ontology:DOID:0080078); sensorineural hearing loss (Disease Ontology:DOID:10003); hypertension (Disease Ontology:DOID:10763); malignant renovascular hypertension (Disease Ontology:DOID:13730)", "pathway": " (hsa:9368)", "pathway_count": 1, "publication_count": 134, "publication_id_list": "10446210;10499588;11237011;11285285;11304524;11352585;11684085;11882663;11956211;12004055;12080081;12145337;12154080;12193606;12403779;12444018;12444019;12471024;12665801;12830000;12881487;15020681;15302935;16615918;17081983;17613530;17924679;18088087;18212344;18220336;18452278;18566446;18669648;18707149;18767875;18784102;18991276;19117535;19367720;19413330;19415658;19555689;19651622;19664994;19664995;20058876;20068231;20166139;20571032;20937695;21406692;22223895;22506049;22544926;22801783;23186163;23481700;24012959;24275569;24366607;24715725;25418920;25492869;25576301;25645385;26154972;26768311;26862730;26992070;27726376;27846572;27862975;27920218;28228285;28510447;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29786170;29789417;30315122;30429286;30484775;30524438;30779550;31092671;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33499384;33592498;33968037;34019948;34087483;34171305;34189428;34509645;34932366;35051231;35251023;35307350;35318648;35580925;36010968;36215666;36241641;36284347;36762943;37938771;38665916;9096337;9314537;9430655", "class_list": "", "function": "High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture., [RefSeq, PubMed]; RGS14 regulates PTH- and FGF23-sensitive NPT2A-mediated renal phosphate uptake via binding to the NHERF1 scaffolding protein., [RefSeq, PubMed]; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 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, "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": 21, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 2, "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": "B3KY21;O43552;Q86WQ5", "ec_number_list": [], "go_molecular_function": "GO:0031698 beta-2 adrenergic receptor binding;GO:0050780 dopamine receptor binding;GO:0031800 type 3 metabotropic glutamate receptor binding;GO:0005102 signaling receptor binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030033 microvillus assembly;GO:0034635 glutathione transport;GO:0097291 renal phosphate ion absorption;GO:0007009 plasma membrane organization;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "O14745-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10321-1", "uniprot_id": [ { "id": "HLAC_HUMAN", "url": "https://www.uniprot.org/uniprot/P10321", "type": "external" } ], "mass": 40649.0, "length": 366, "protein_name": "HLA class I histocompatibility antigen, C alpha chain", "gene_name": "HLA-C", "organism": "Human", "refseq_name": "HLA class I histocompatibility antigen, C alpha chain precursor", "refseq_ac": [ { "id": "NP_002108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002108", "type": "external" } ], "gene_names_uniprotkb": "HLA-C; HLAC", "gene_names_refseq": "D6S204; HLA-C; HLA-JY3; HLAC; HLC-C; MHC; PSORS1", "protein_names_uniprotkb": "HLA class I histocompatibility antigen, C alpha chain; HLA-Cw; HLA-C; Human leukocyte antigen C", "protein_names_refseq": "HLA class I histocompatibility antigen, C alpha chain precursor; HLA class I histocompatibility antigen, C alpha chain; HLA-C antigen; MHC class I antigen heavy chain HLA-C; human leukocyte antigen-C alpha chain; major histocompatibility antigen HLA-C", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); graft-versus-host disease (Disease Ontology:DOID:0081267); psoriasis 1 (Disease Ontology:DOID:0111286); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); myositis (Disease Ontology:DOID:633); psoriasis (Disease Ontology:DOID:8893); allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:3107); (R-HSA-1236974); (R-HSA-1236977); (R-HSA-198933); (R-HSA-2172127); (R-HSA-6798695); (R-HSA-877300); (R-HSA-909733); (R-HSA-9705671); (R-HSA-983170)", "pathway_count": 10, "publication_count": 430, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10049942;10064069;10067896;10372547;10395669;10449773;10468607;10488744;10499918;10542297;10600378;10604985;10746781;10777614;10825291;10850706;10940905;10982397;10982844;10986460;11092454;11122018;11160214;11163199;11172028;11237011;11247303;11265639;11323700;11337497;11377645;11390610;11404376;11489943;11513152;11514579;11556966;11585831;11602640;11807247;11857637;11858820;11861603;11955593;11955595;11955599;11972023;12019269;12029096;12040185;12213321;12436109;12436110;12438563;12446674;12483297;12588680;12622774;12645939;12668644;12692549;12759408;12766484;12776204;12842042;12915721;12947002;1317015;1384166;1396683;14586410;14681859;14707061;14718384;14719373;14722222;14769151;14970179;15034010;15047845;1508672;15136729;15143187;15155468;15172443;15187158;15208624;15265913;15286279;15304001;15312780;15322115;15388922;15449939;15530433;15534202;15541655;15557162;15580655;15607800;15778442;15778510;15781451;15800062;15851719;15864273;15884055;15927284;15940674;1598685;16009940;16014749;16091383;16129954;16141329;16171819;16235096;16237089;16339513;16380601;16465444;16467876;16473882;16551255;16623599;16642438;16737824;16754721;16893496;16904340;16920917;16928187;16933987;16987978;17012248;17045824;17056546;17057721;17088086;17110943;1711567;17125875;17202323;17237375;17251292;1730654;17316621;17337780;17351669;17483134;17641029;17656363;17969444;18031695;18035202;18037897;18055229;18209062;18234675;18268517;18362138;18420581;18575461;18591661;18593354;18624290;18629938;18692471;18802471;19119025;19149696;19159218;19193869;19217269;19261456;19342655;19359216;19361863;19426129;19498108;19575639;19592130;19851281;19858347;19918052;20049711;20093094;20104487;20130243;20304997;20356336;20363976;2038058;20439706;20605430;20643137;20730098;20865034;20890284;20972337;21050182;21241660;21800138;21841309;21877119;2211721;22153078;22396535;22941947;23061660;23090970;23121362;23584533;23613522;23650620;23695528;23929856;24091323;24190977;24305946;24417533;2450918;24714562;24715725;24990997;25083866;25311805;25371710;25502872;25703557;25716998;25813380;26154972;26284469;26300885;26621454;26992070;2714852;2715640;27726376;27846572;2787363;28467828;28510447;28649982;28650991;28904123;2914713;29312307;29493099;29557506;29741879;30059200;30429286;30485383;31844290;31850239;32032529;32113509;32157095;32162841;32350084;32353859;32357974;32387766;32428392;32488085;32502341;32511913;32574262;32589897;32661006;32726803;32728199;32758689;32862111;32897882;32938616;32953130;32979938;32983136;33024073;33043033;33060197;33091337;33097660;33110251;33117408;33123756;33141586;33189161;33193462;33239784;33298915;33349665;33360543;33372174;33372854;33392160;33396578;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33691108;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33989516;33990585;34021074;34054808;34078123;34084167;34087483;34110168;34166398;34171305;34211107;34239064;34290717;34341353;34357683;34375313;34400613;34433824;34439781;34452305;34471099;34502139;34597346;34932366;35051231;35102342;35154160;35318648;35494241;35561310;35580925;35587797;35643212;36010968;36284347;36581221;37051252;37264229;37938771;38665916;38674456;38691588;38786080;38946372;39334916;39365900;40596516;40914422;6162102;6548414;688397;7482492;7510216;7514165;7526154;7530745;7531291;7537377;7540766;7542404;7615558;7617032;7642652;7657660;7673114;7690989;7743181;7796299;7876241;7905471;8156998;8176225;8178173;8197134;8232552;8265661;8342042;8483949;8530158;8550631;8605876;8621447;8631301;8655361;8692836;8702790;8995416;9008313;9096384;9098935;9111318;9121453;9143706;9211742;9242679;9285412;9314561;9334213;9490415;9605141;9625766;9655483;9660177;9700512;9730896;9847332;9861020", "class_list": "", "function": "ALLELE C*01:02: The peptide-bound form interacts with KIR2DL2 and KIR2DL3 inhibitory receptors on NK cells. The low affinity peptides compete with the high affinity peptides impeding KIR-mediated inhibition and favoring lysis of infected cells (PubMed:20439706). Presents to CD8-positive T cells a CMV epitope derived from UL83/pp65 (RCPEMISVL), an immediate-early antigen necessary for initiating viral replication (PubMed:12947002)., [UniProtKB, PubMed, PubMed]; ALLELE C*04:01: Presents a conserved HIV-1 epitope derived from env (SFNCGGEFF) to memory CD8-positive T cells, eliciting very strong IFNG responses (PubMed:20104487). Presents CMV epitope derived from UL83/pp65 (QYDPVAALF) to CD8-positive T cells, triggering T cell cytotoxic response (PubMed:12947002)., [UniProtKB, PubMed, PubMed]; ALLELE C*05:01: Presents HIV-1 epitope derived from rev (SAEPVPLQL) to CD8-positive T cells, triggering T cell cytotoxic response., [UniProtKB, PubMed]; ALLELE C*06:02: In trophoblasts, interacts with KIR2DS2 on uterine NK cells and triggers NK cell activation, including secretion of cytokines such as GMCSF that enhances trophoblast migration., [UniProtKB, PubMed]; ALLELE C*07:02: Plays an important role in the control of chronic CMV infection. Presents immunodominant CMV epitopes derived from IE1 (LSEFCRVL and CRVLCCYVL) and UL28 (FRCPRRFCF), both antigens synthesized during immediate-early period of viral replication. Elicits a strong anti-viral CD8-positive T cell immune response that increases markedly with age., [UniProtKB, PubMed]; ALLELE C*08:01: Presents viral epitopes derived from CMV UL83 (VVCAHELVC) and IAV M1 (GILGFVFTL), triggering CD8-positive T cell cytotoxic response., [UniProtKB, PubMed, PubMed]; ALLELE C*12:02: Presents CMV epitope derived from UL83 (VAFTSHEHF) to CD8-positive T cells., [UniProtKB, PubMed]; ALLELE C*15:02: Presents CMV epitope derived from UL83 CC (VVCAHELVC) to CD8-positive T cells, triggering T cell cytotoxic response., [UniProtKB, PubMed]; Antigen-presenting major histocompatibility complex class I (MHCI) molecule with an important role in reproduction and antiviral immunity (PubMed:11172028, PubMed:20104487, PubMed:20439706, PubMed:20972337, PubMed:24091323, PubMed:28649982, PubMed:29312307). In complex with B2M/beta 2 microglobulin displays a restricted repertoire of self and viral peptides and acts as a dominant ligand for inhibitory and activating killer immunoglobulin receptors (KIRs) expressed on NK cells (PubMed:16141329). In an allogeneic setting, such as during pregnancy, mediates interaction of extravillous trophoblasts with KIR on uterine NK cells and regulate trophoblast invasion necessary for placentation and overall fetal growth (PubMed:20972337, PubMed:24091323). During viral infection, may present viral peptides with low affinity for KIRs, impeding KIR-mediated inhibition through peptide antagonism and favoring lysis of infected cells (PubMed:20439706). Presents a restricted repertoire of viral peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-C-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected cells, particularly in chronic viral infection settings such as HIV-1 or CMV infection (PubMed:11172028, PubMed:20104487, PubMed:28649982). Both the peptide and the MHC molecule are recognized by TCR, the peptide is responsible for the fine specificity of antigen recognition and MHC residues account for the MHC restriction of T cells (By similarity). Typically presents intracellular peptide antigens of 9 amino acids that arise from cytosolic proteolysis via proteasome. Can bind different peptides containing allele-specific binding motifs, which are mainly defined by anchor residues at position 2 and 9. Preferentially displays peptides having a restricted repertoire of hydrophobic or aromatic amino acids (Phe, Ile, Leu, Met, Val and Tyr) at the C-terminal anchor (PubMed:25311805, PubMed:8265661)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Association of the Genetic Diversity of Killer Cell Immunoglobulin-like Receptor Genes and HLA-C Ligand in Saudi Women With Thyroid Cancer., [RefSeq, PubMed]; HLA-B and C Expression Contributes to COVID-19 Disease Severity within a South African Cohort. Publication Status: Online-Only, [RefSeq, PubMed]; HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. About 6000 HLA-C alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]., [RefSeq]; HLA-Cw6 Polymorphism in Autoimmune Blistering Diseases. Publication Status: Online-Only, [RefSeq, PubMed]; Insights into PCSK9-LDLR Regulation and Trafficking via the Differential Functions of MHC-I Proteins HFE and HLA-C. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the presentation of foreign antigens to the immune system., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; [Genetic study of a rare Chinese pedigree with a recombination occurring between the HLA-A/C loci in both parents]., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 7, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O02863;O02864;O02865;O02866;O02958;O19505;O19652;O19676;O62879;O62882;O62883;O62888;O78060;O78061;O78062;O78063;O78067;O78068;O78069;O78072;O78083;O78090;O78091;O78149;O78165;O78166;O78178;O78202;O78203;O78211;O78214;P04222;P30499;P30500;P30501;P30502;P30503;P30504;P30505;P30506;P30507;P30508;P30509;P30510;P79498;Q07000;Q29631;Q29641;Q29643;Q29652;Q29743;Q29768;Q29862;Q29864;Q29865;Q29867;Q29921;Q29959;Q29960;Q29963;Q29986;Q29989;Q29990;Q29991;Q29992;Q29993;Q30192;Q31605;Q31627;Q860R1;Q860R2;Q95463;Q95603;Q95604;Q99528;Q9BD28;Q9GIK4;Q9GIK8;Q9GJ33;Q9MY30;Q9MY31;Q9MY35;Q9MY49;Q9MY74;Q9MYI3;Q9TNN7;Q9TNZ8;Q9TPS4;Q9TPV8;Q9TPX2;Q9TQB4;Q9TQJ5;Q9TQP9;Q9UM32;Q9UM33;Q9UM42;Q9UQS9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0030881 beta-2-microglobulin binding;GO:0042605 peptide antigen binding;GO:0046977 TAP binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0002715 regulation of natural killer cell mediated immunity;GO:0006955 immune response;GO:0045087 innate immune response;GO:0002486 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent", "synthesized_glycan_count": 0, "hit_score": 44.3, "record_id": "P10321-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14744-1", "uniprot_id": [ { "id": "ANM5_HUMAN", "url": "https://www.uniprot.org/uniprot/O14744", "type": "external" } ], "mass": 72684.0, "length": 637, "protein_name": "Protein arginine N-methyltransferase 5", "gene_name": "PRMT5", "organism": "Human", "refseq_name": "protein arginine N-methyltransferase 5 isoform b", "refseq_ac": [ { "id": "NP_001034708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034708", "type": "external" } ], "gene_names_uniprotkb": "PRMT5; HRMT1L5; IBP72; JBP1; SKB1", "gene_names_refseq": "HRMT1L5; HSL7; IBP72; JBP1; PRMT5; SKB1Hs; SKB1", "protein_names_uniprotkb": "Protein arginine N-methyltransferase 5; 2.1.1.320; 72 kDa ICln-binding protein; Histone-arginine N-methyltransferase PRMT5; Jak-binding protein 1; PRMT5; SKB1 homolog; SKB1Hs; Shk1 kinase-binding protein 1 homolog", "protein_names_refseq": "72 kDa ICln-binding protein; HMT1 hnRNP methyltransferase-like 5; SKB1 homolog; histone-arginine N-methyltransferase PRMT5; jak-binding protein 1; protein arginine N-methyltransferase 5 isoform b; protein arginine N-methyltransferase 5; shk1 kinase-binding protein 1 homolog", "tax_id": 9606, "disease": "idiopathic scoliosis (Disease Ontology:DOID:0060250); Leydig cell tumor (Disease Ontology:DOID:2696); asthma (Disease Ontology:DOID:2841); seminoma (Disease Ontology:DOID:4440)", "pathway": " (hsa:10419); (R-HSA-191859); (R-HSA-3214858); (R-HSA-6804760)", "pathway_count": 4, "publication_count": 167, "publication_id_list": "10518217;10531003;10531356;10556282;10601333;10725331;10734105;10851237;11152681;11237011;11333016;11341840;11448779;11511361;11714716;11747826;11747828;11748230;11751582;11756452;12065586;12095920;12101096;12411503;12441251;12665801;12718890;12776181;15448695;15485929;15525938;15737618;16087681;16415881;16428440;17108971;17170761;17184735;17215844;17707234;17709427;17898714;18079182;18404153;18802091;18833288;18984161;18991276;19011621;19054851;19234465;19651622;20118233;20159986;20421892;20810653;20870725;20951943;21081503;21258366;21316606;21625555;21774791;21917714;22223895;22231400;22269951;22362889;23071334;23301498;23481700;24366607;24715725;25092918;25284789;25418920;25576301;25645385;25810538;26154972;26375851;26700805;26992070;27600516;27846572;27920218;28074910;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30410026;30524438;30779550;30833945;31020640;31092671;31154438;31217245;31530632;31844290;31848261;31937595;32119511;32157095;32161166;32350084;32357974;32387766;32456215;32488085;32502341;32759981;32897882;32938616;33141586;33298915;33376131;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34105348;34171305;34357683;34405274;34433824;34561969;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35494241;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37938771;38626179;38663941;38665916;38760429;38827324;40914422;8196654;9556550;9642256;9843966;9845364", "class_list": "", "function": "Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA (PubMed:10531356, PubMed:11152681, PubMed:11747828, PubMed:12411503, PubMed:15737618, PubMed:17709427, PubMed:20159986, PubMed:20810653, PubMed:21081503, PubMed:21258366, PubMed:21917714, PubMed:22269951). Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles (PubMed:11747828, PubMed:12411503, PubMed:17709427). Methylates SUPT5H and may regulate its transcriptional elongation properties (PubMed:12718890). May methylate the N-terminal region of MBD2 (PubMed:16428440). Mono- and dimethylates arginine residues of myelin basic protein (MBP) in vitro. May play a role in cytokine-activated transduction pathways. Negatively regulates cyclin E1 promoter activity and cellular proliferation. Methylates histone H2A and H4 'Arg-3' during germ cell development (By similarity). Methylates histone H3 'Arg-8', which may repress transcription (By similarity). Methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-containing proteins and subsequent localization to the meiotic nuage (By similarity). Methylates RPS10. Attenuates EGF signaling through the MAPK1/MAPK3 pathway acting at 2 levels. First, monomethylates EGFR; this enhances EGFR 'Tyr-1197' phosphorylation and PTPN6 recruitment, eventually leading to reduced SOS1 phosphorylation (PubMed:21258366, PubMed:21917714). Second, methylates RAF1 and probably BRAF, hence destabilizing these 2 signaling proteins and reducing their catalytic activity (PubMed:21917714). Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation. Methylates HOXA9 (PubMed:22269951). Methylates and regulates SRGAP2 which is involved in cell migration and differentiation (PubMed:20810653). Acts as a transcriptional corepressor in CRY1-mediated repression of the core circadian component PER1 by regulating the H4R3 dimethylation at the PER1 promoter (By similarity). Methylates GM130/GOLGA2, regulating Golgi ribbon formation (PubMed:20421892). Methylates H4R3 in genes involved in glioblastomagenesis in a CHTOP- and/or TET1-dependent manner (PubMed:25284789). Symmetrically methylates POLR2A, a modification that allows the recruitment to POLR2A of proteins including SMN1/SMN2 and SETX. This is 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). Along with LYAR, binds the promoter of gamma-globin HBG1/HBG2 and represses its expression (PubMed:25092918). Symmetrically methylates NCL (PubMed:21081503). Methylates p53/TP53; methylation might possibly affect p53/TP53 target gene specificity (PubMed:19011621). Involved in spliceosome maturation and mRNA splicing in prophase I spermatocytes through the catalysis of the symmetrical arginine dimethylation of SNRPB (small nuclear ribonucleoprotein-associated protein) and the interaction with tudor domain-containing protein TDRD6 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CircPRMT5 promotes progression of osteosarcoma by recruiting CNBP to regulate the translation and stability of CDK6 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of protein methyltransferases 5 associated with ferroptosis and immune cell infiltration of head and neck squamous cell carcinoma., [RefSeq, PubMed]; PRMT5-mediated methylation of STAT3 is required for lung cancer stem cell maintenance and tumour growth. Publication Status: Online-Only, [RefSeq, PubMed]; The interplay mechanism between IDH mutation, MGMT-promoter methylation, and PRMT5 activity in the progression of grade 4 astrocytoma: unraveling the complex triad theory. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation, and the assembly of small nuclear ribonucleoproteins. A pseudogene of this gene has been defined on chromosome 4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MTP3;A8MZ91;B4DX49;B4DY30;B5BU10;D3DS33;E2QRE7;Q6IBR1;Q9UKH1", "ec_number_list": [ { "id": "2.1.1.320", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.320", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.1.1.321", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.321", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "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:0043021 ribonucleoprotein complex binding;GO:0046982 protein heterodimerization activity;GO:0003714 transcription corepressor activity;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:2000234 positive regulation of rRNA processing;GO:0048026 positive regulation of mRNA splicing, via spliceosome;GO:0006338 chromatin remodeling;GO:0048714 positive regulation of oligodendrocyte differentiation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "O14744-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04439-1", "uniprot_id": [ { "id": "HLAA_HUMAN", "url": "https://www.uniprot.org/uniprot/P04439", "type": "external" } ], "mass": 40841.0, "length": 365, "protein_name": "HLA class I histocompatibility antigen, A alpha chain", "gene_name": "HLA-A", "organism": "Human", "refseq_name": "HLA class I histocompatibility antigen, A alpha chain isoform A*01:01:01:01 precursor", "refseq_ac": [ { "id": "NP_001229687", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229687", "type": "external" } ], "gene_names_uniprotkb": "HLA-A; HLAA", "gene_names_refseq": "HLA-A; HLAA", "protein_names_uniprotkb": "HLA class I histocompatibility antigen, A alpha chain; HLA-A; Human leukocyte antigen A", "protein_names_refseq": "HLA class I histocompatibility antigen, A alpha chain isoform A*01:01:01:01 precursor; HLA class I histocompatibility antigen, A-1 alpha chain; MHC class I antigen HLA-A heavy chain; leukocyte antigen class I-A", "tax_id": 9606, "disease": "Stevens-Johnson syndrome (Disease Ontology:DOID:0050426); pre-eclampsia (Disease Ontology:DOID:10591); vulva cancer (Disease Ontology:DOID:1245); thromboangiitis obliterans (Disease Ontology:DOID:12918); Moyamoya disease (Disease Ontology:DOID:13099); uveitis (Disease Ontology:DOID:13141); Melkersson-Rosenthal syndrome (Disease Ontology:DOID:1761); Takayasu's arteritis (Disease Ontology:DOID:2508); cerebral infarction (Disease Ontology:DOID:3526); tuberculosis (Disease Ontology:DOID:399); scleroderma (Disease Ontology:DOID:419); central nervous system vasculitis (Disease Ontology:DOID:525); myositis (Disease Ontology:DOID:633); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); type 1 diabetes mellitus (Disease Ontology:DOID:9744); multiple sclerosis, susceptibility to 1 (MONDO:MONDO:0021571)", "pathway": " (hsa:3105); (R-HSA-1236974); (R-HSA-1236977); (R-HSA-164940); (R-HSA-198933); (R-HSA-877300); (R-HSA-8866654); (R-HSA-909733); (R-HSA-9705671); (R-HSA-983170)", "pathway_count": 10, "publication_count": 520, "publication_id_list": 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"class_list": "", "function": "Allele A*01:01: Presents a restricted peptide repertoire including viral epitopes derived from IAV NP/nucleoprotein (CTELKLSDY), IAV PB1/polymerase basic protein 1 (VSDGGPNLY), HAdV-11 capsid L3/hexon protein (LTDLGQNLLY), SARS-CoV-2 3a/ORF3a (FTSDYYQLY) as well as tumor peptide antigens including MAGE1 (EADPTGHSY), MAGEA3 (EVDPIGHLY) and WT1 (TSEKRPFMCAY), all having in common a canonical motif with a negatively charged Asp or Glu residue at position 3 and a Tyr anchor residue at the C-terminus (PubMed:1402688, PubMed:17189421, PubMed:19177349, PubMed:20364150, PubMed:24395804, PubMed:25880248, PubMed:26758806, PubMed:30530481, PubMed:32887977, PubMed:7504010). A number of HLA-A*01:01-restricted peptides carry a post-translational modification with oxidation and N-terminal acetylation being the most frequent (PubMed:25880248). Fails to present highly immunogenic peptides from the EBV latent antigens (PubMed:18779413)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Allele A*02:01: A major allele in human populations, presents immunodominant viral epitopes derived from IAV M/matrix protein 1 (GILGFVFTL), HIV-1 env (TLTSCNTSV), HIV-1 gag-pol (ILKEPVHGV), HTLV-1 Tax (LLFGYPVYV), HBV C/core antigen (FLPSDFFPS), HCMV UL83/pp65 (NLVPMVATV) as well as tumor peptide antigens including MAGEA4 (GVYDGREHTV), WT1 (RMFPNAPYL) and CTAG1A/NY-ESO-1 (SLLMWITQC), all having in common hydrophobic amino acids at position 2 and at the C-terminal anchors., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Allele A*03:01: Presents viral epitopes derived from IAV NP (ILRGSVAHK), HIV-1 nef (QVPLRPMTYK), HIV-1 gag-pol (AIFQSSMTK), SARS-CoV-2 N/nucleoprotein (KTFPPTEPK) as well as tumor peptide antigens including PMEL (LIYRRRLMK), NODAL (HAYIQSLLK), TRP-2 (RMYNMVPFF), all having in common hydrophobic amino acids at position 2 and Lys or Arg anchor residues at the C-terminus (PubMed:19543285, PubMed:21943705, PubMed:2456340, PubMed:32887977, PubMed:7504010, PubMed:7679507, PubMed:9862734). May also display spliced peptides resulting from the ligation of two separate proteasomal cleavage products that are not contiguous in the parental protein (PubMed:27049119)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Allele A*11:01: Presents several immunodominant epitopes derived from HIV-1 gag-pol and HHV-4 EBNA4, containing the peptide motif with Val, Ile, Thr, Leu, Tyr or Phe at position 2 and Lys anchor residue at the C-terminus. Important in the control of HIV-1, EBV and HBV infections (PubMed:10449296). Presents an immunodominant epitope derived from SARS-CoV-2 N/nucleoprotein (KTFPPTEPK) (PubMed:32887977)., [UniProtKB, PubMed, PubMed]; Allele A*23:01: Interacts with natural killer (NK) cell receptor KIR3DL1 and may contribute to functional maturation of NK cells and self-nonself discrimination during innate immune response., [UniProtKB, PubMed]; Allele A*24:02: Presents viral epitopes derived from HIV-1 nef (RYPLTFGWCF), EBV lytic- and latent-cycle antigens BRLF1 (TYPVLEEMF), BMLF1 (DYNFVKQLF) and LMP2 (IYVLVMLVL), SARS-CoV nucleocapsid/N (QFKDNVILL), as well as tumor peptide antigens including PRAME (LYVDSLFFL), all sharing a common signature motif, namely an aromatic residue Tyr or Phe at position 2 and a nonhydrophobic anchor residue Phe, Leu or Iso at the C-terminus (PubMed:12393434, PubMed:20844028, PubMed:24192765, PubMed:9047241). Interacts with natural killer (NK) cell receptor KIR3DL1 and may contribute to functional maturation of NK cells and self-nonself discrimination during innate immune response (PubMed:17182537, PubMed:18502829)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Allele A*26:01: Presents several epitopes derived from HIV-1 gag-pol (EVIPMFSAL, ETKLGKAGY) and env (LVSDGGPNLY), carrying as anchor residues preferentially Glu at position 1, Val or Thr at position 2 and Tyr at the C-terminus., [UniProtKB, PubMed]; Allele A*29:02: Presents peptides having a common motif, namely a Glu residue at position 2 and Tyr or Leu anchor residues at the C-terminus., [UniProtKB, PubMed]; Allele A*32:01: Interacts with natural killer (NK) cell receptor KIR3DL1 and may contribute to functional maturation of NK cells and self-nonself discrimination during innate immune response., [UniProtKB, PubMed]; Allele A*68:01: Presents viral epitopes derived from IAV NP (KTGGPIYKR) and HIV-1 tat (ITKGLGISYGR), having a common signature motif namely, Val or Thr at position 2 and positively charged residues Arg or Lys at the C-terminal anchor., [UniProtKB, PubMed, PubMed, PubMed]; Allele A*74:01: Presents immunodominant HIV-1 epitopes derived from gag-pol (GQMVHQAISPR, QIYPGIKVR) and rev (RQIHSISER), carrying an aliphatic residue at position 2 and Arg anchor residue at the C-terminus. May contribute to viral load control in chronic HIV-1 infection., [UniProtKB, PubMed]; Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-A-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells (PubMed:10449296, PubMed:12138174, PubMed:12393434, PubMed:1402688, PubMed:15893615, PubMed:17189421, PubMed:19543285, PubMed:21498667, PubMed:24192765, PubMed:24395804, PubMed:2456340, PubMed:2784196, PubMed:28250417, PubMed:7504010, PubMed:7694806, PubMed:9862734). May also present self-peptides derived from the signal sequence of secreted or membrane proteins, although T cells specific for these peptides are usually inactivated to prevent autoreactivity (PubMed:25880248, PubMed:7506728, PubMed:7679507). Both the peptide and the MHC molecule are recognized by TCR, the peptide is responsible for the fine specificity of antigen recognition and MHC residues account for the MHC restriction of T cells (PubMed:12796775, PubMed:18275829, PubMed:19542454, PubMed:28250417). Typically presents intracellular peptide antigens of 8 to 13 amino acids that arise from cytosolic proteolysis via IFNG-induced immunoproteasome or via endopeptidase IDE/insulin-degrading enzyme (PubMed:17079320, PubMed:17189421, PubMed:20364150, PubMed:26929325, PubMed:27049119). Can bind different peptides containing allele-specific binding motifs, which are mainly defined by anchor residues at position 2 and 9 (PubMed:7504010, PubMed:9862734)., [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]; Frequency of HLA-A*02:01 in the Brazilian population and its impact on uveal melanoma systemic treatment., [RefSeq, PubMed]; HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]., [RefSeq]; Human Leukocyte Antigen Alleles (HLA-A, HLA-B, and HLA-DRB1) are associated with Acute Lymphoblastic Leukemia (ALL) : A Case-Control Study in a Sample of Iranian Population. Publication Status: Online-Only, [RefSeq, PubMed]; Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation., [RefSeq, PubMed]; Molecular mechanism of specific HLA-A mRNA recognition by the RNA-binding-protein hMEX3B to promote tumor immune escape. Publication Status: Online-Only, [RefSeq, PubMed]; [Genetic study of a rare Chinese pedigree with a recombination occurring between the HLA-A/C loci in both parents]., [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": 1, "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, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 12, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 29, "disease_count": 16, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B1PKZ3;O02939;O02954;O02955;O02963;O19509;O19546;O19598;O19605;O19606;O19619;O19647;O19673;O19687;O19695;O19756;O19794;O19795;O43906;O43907;O46874;O62921;O62924;O77937;O77938;O77964;O78073;O78171;O98009;O98010;O98011;O98137;P01891;P01892;P05534;P06338;P10313;P10314;P10315;P10316;P13746;P16188;P16189;P16190;P18462;P30443;P30444;P30445;P30446;P30447;P30448;P30449;P30450;P30451;P30452;P30453;P30454;P30455;P30456;P30457;P30458;P30459;P30512;P30514;P79505;P79562;P79563;Q09160;Q29680;Q29747;Q29835;Q29837;Q29838;Q29899;Q29908;Q29909;Q29910;Q30208;Q31623;Q5S3G1;Q65A82;Q8MHM1;Q8MHN9;Q95352;Q95355;Q95362;Q95377;Q95380;Q95IZ5;Q9BCN0;Q9BD15;Q9BD19;Q9GJE6;Q9GJE7;Q9GJE8;Q9MW42;Q9MY89;Q9MYA3;Q9MYA5;Q9MYC4;Q9MYE6;Q9MYE9;Q9MYG4;Q9MYG5;Q9MYI5;Q9TP25;Q9TPQ3;Q9TPR8;Q9TPX8;Q9TPX9;Q9TPY0;Q9TQ24;Q9TQE8;Q9TQE9;Q9TQF1;Q9TQF5;Q9TQF8;Q9TQF9;Q9TQG0;Q9TQG5;Q9TQG7;Q9TQH5;Q9TQI3;Q9TQK5;Q9TQM6;Q9TQN5;Q9TQP5;Q9TQP6;Q9TQP7;Q9UIN1;Q9UIN2;Q9UIP7;Q9UQU3;Q9UQU6;Q9UQU7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0030881 beta-2-microglobulin binding;GO:0042605 peptide antigen binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0002715 regulation of natural killer cell mediated immunity;GO:0036037 CD8-positive, alpha-beta T cell activation;GO:0042590 antigen processing and presentation of exogenous peptide antigen via MHC class I;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 55.4, "record_id": "P04439-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJC3-1", "uniprot_id": [ { "id": "HOOK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJC3", "type": "external" } ], "mass": 84648.0, "length": 728, "protein_name": "Protein Hook homolog 1", "gene_name": "HOOK1", "organism": "Human", "refseq_name": "protein Hook homolog 1", "refseq_ac": [ { "id": "NP_056972", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056972", "type": "external" } ], "gene_names_uniprotkb": "HOOK1", "gene_names_refseq": "HK1; HOOK1", "protein_names_uniprotkb": "Protein Hook homolog 1; h-hook1; hHK1", "protein_names_refseq": "h-hook1; hHK1; hook homolog 1; protein Hook homolog 1", "tax_id": 9606, "disease": "Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726)", "pathway": " (hsa:51361)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;11238449;15471887;16959974;16964243;18669648;18799622;19413330;20068231;21406692;23186163;23481700;24275569;24715725;25576301;25645385;26528954;26992070;28832583;28834231;29242379;29351928;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30620550;30779550;31844290;31848261;32073997;32157095;32938616;32983136;33537174;33691108;33717175;33968037;33981976;34087483;34171305;34561969;34932366;35051231;35138101;35254053;37085921;38807192;39531497;9927460", "class_list": "", "function": "Component of the FTS/Hook/FHIP complex (FHF complex) (PubMed:18799622, PubMed:32073997). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex) (PubMed:18799622). FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell (PubMed:32073997). Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; HOOK1 Inhibits the Progression of Renal Cell Carcinoma via TGF-beta and TNFSF13B/VEGF-A Axis., [RefSeq, PubMed]; Novel interactions between the microtubule-binding Hook1 and the large family of Rab GTPases also suggest a link between CLN3 function, microtubule cytoskeleton and endocytic membrane trafficking, [RefSeq, PubMed]; Protein homeostasis maintained by HOOK1 levels promotes the tumorigenic and stemness properties of ovarian cancer cells through reticulum stress and autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. [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, "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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 25, "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": "A8K8E9;A8MU44;B4DX15;O60561;Q5TG44", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0051959 dynein light intermediate chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005874 microtubule;GO:0070695 FHF complex", "go_biological_process": "GO:0098840 protein transport along microtubule;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0007032 endosome organization;GO:0007040 lysosome organization", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9UJC3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CV9-1", "uniprot_id": [ { "id": "OPTN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CV9", "type": "external" } ], "mass": 65922.0, "length": 577, "protein_name": "Optineurin", "gene_name": "OPTN", "organism": "Human", "refseq_name": "optineurin", "refseq_ac": [ { "id": "NP_001008212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008212", "type": "external" } ], "gene_names_uniprotkb": "OPTN; FIP2; GLC1E; HIP7; HYPL; NRP", "gene_names_refseq": "ALS12; FIP2; GLC1E; HIP7; HYPL; NRP; OPTN; TFIIIA-INTP", "protein_names_uniprotkb": "Optineurin; E3-14.7K-interacting protein; FIP-2; HIP-7; Huntingtin yeast partner L; Huntingtin-interacting protein 7; Huntingtin-interacting protein L; NEMO-related protein; Optic neuropathy-inducing protein; TFIIIA-IntP; Transcription factor IIIA-interacting protein", "protein_names_refseq": "E3-14.7K-interacting protein; FIP-2; HIP-7; Huntingtin interacting protein L; huntingtin yeast partner L; huntingtin-interacting protein 7; huntingtin-interacting protein L; nemo-related protein; optic neuropathy-inducing protein; optineurin; transcription factor IIIA-interacting protein; transcrption factor IIIA-interacting protein; tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 12 (Disease Ontology:DOID:0060203); neuronal intranuclear inclusion disease (Disease Ontology:DOID:0081294); open-angle glaucoma (Disease Ontology:DOID:1067); primary open angle glaucoma (Disease Ontology:DOID:1070); Huntington's disease (Disease Ontology:DOID:12858); low tension glaucoma (Disease Ontology:DOID:13544); exfoliation syndrome (Disease Ontology:DOID:13641); bladder neck obstruction (Disease Ontology:DOID:13948); Parkinson's disease (Disease Ontology:DOID:14330); glaucoma (Disease Ontology:DOID:1686); transient cerebral ischemia (Disease Ontology:DOID:224); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); Paget's disease of bone (Disease Ontology:DOID:5408); proteinuria (Disease Ontology:DOID:576); progressive myoclonus epilepsy (Disease Ontology:DOID:891); glaucoma, normal tension, susceptibility to (MONDO:MONDO:0011693)", "pathway": " (hsa:10133); (R-HSA-2565942); (R-HSA-5205685); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-8854214); (R-HSA-9013973); (R-HSA-936964); (R-HSA-9824878); (R-HSA-9828211)", "pathway_count": 11, "publication_count": 250, "publication_id_list": "10202141;10521396;10756201;10807909;10837247;11098060;11137014;11181075;11237011;11427719;11577081;11834836;12167698;12207013;12364337;12379221;12646749;12692549;12709429;12721308;12887920;12939304;13678582;14517278;14555995;14597044;14627677;14703513;14716293;15024054;15210742;15226658;15258597;15326130;15370540;15498064;15557444;15837803;15870263;16055087;16260783;16282325;16306936;16306937;16395330;16603398;16682944;16829951;16829952;16890155;16953224;16964243;17047224;17081983;17157040;17314102;17327220;17389490;17526488;17599067;17658474;17702576;17823124;17901050;18178551;18199687;18212344;18307994;18319245;18378770;18452278;18466115;18477460;18521620;18566290;18615013;18669648;18707149;18767875;19278658;19289468;19416807;19432818;19651622;19664994;19898473;19910467;20005846;20058876;20068231;20085643;20095038;20116244;20126261;20166139;20174559;20185725;20219915;20304918;20363736;20385093;20388642;20404108;20428114;20712405;21115803;21194381;21235526;21383079;21408173;21458671;21617041;21862579;22179575;22219378;22297296;22365832;22435550;22613832;22641346;22762500;22795129;22848449;22854040;23019362;23186163;23313255;23357852;23453969;23453971;23453972;23481700;23562278;23669351;23746843;23805866;23908376;24098568;24246475;24275569;24323043;24660806;24705354;24726323;24726327;24751536;24752605;24784582;25474007;25527497;25565632;25645385;25923723;26116755;26344099;26365381;26376340;26900751;26997266;27035970;27247382;27307491;27458237;27534431;27538435;27545878;27552911;27591049;27600516;27862975;27920218;28506461;28514659;28832583;28920952;28920954;29242379;29331515;29394115;29493099;29508533;29557506;29632711;29642005;29786170;29995846;30083281;30146158;30266909;30361438;30379171;30420664;30429286;30573663;30626607;30679426;30779550;30988283;31247202;31366726;31371777;31511692;31637018;31844290;32157095;32185393;32296703;32320653;32350084;32385243;32387766;32488085;32502341;32938616;32983136;33298915;33402344;33469115;33592498;33692357;33893090;33912179;33968037;33981976;34078123;34162724;34357683;34363755;34433824;34509645;34876703;35051231;35154160;35580925;35941131;36010968;36215666;36936901;38287189;38350370;38411425;38665916;38872230;7531702;7667287;9049422;9065443;9488477;9566918;9700202", "class_list": "", "function": "(Microbial infection) May constitute a cellular target for various viruses, such as adenovirus E3 14.7 or Bluetongue virus, to inhibit innate immune response (PubMed:27538435, PubMed:9488477). During RNA virus infection, such as that of Sendai virus, negatively regulates the induction of IFNB1 (PubMed:20174559)., [UniProtKB, PubMed, PubMed, PubMed]; Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations. Publication Status: Online-Only, [RefSeq, PubMed]; May act by regulating membrane trafficking and cellular morphogenesis., [UniProtKB, UniProtKB]; Optineurin provides a mitophagy contact site for TBK1 activation., [RefSeq, PubMed]; Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation (PubMed:27534431). Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation (PubMed:27538435). In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta/IFNB1. Plays a neuroprotective role in the eye and optic nerve. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and huntingtin (HD). Mediates the interaction of Rab8 with the probable GTPase-activating protein TBC1D17 during Rab8-mediated endocytic trafficking, such as that of transferrin receptor (TFRC/TfR); regulates Rab8 recruitment to tubules emanating from the endocytic recycling compartment (PubMed:22854040). Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family; targets ubiquitin-coated bacteria (xenophagy), such as cytoplasmic Salmonella enterica, and appears to function in the same pathway as SQSTM1 and CALCOCO2/NDP52., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Roles and mechanisms of optineurin in bone metabolism. Review article, [RefSeq, PubMed]; This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]; [Optineurin and mitochondrial dysfunction in neurodegeneration]. Review article, [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KP00;D3DRS4;D3DRS8;Q5T672;Q5T673;Q5T674;Q5T675;Q7LDL9;Q8N562;Q9UET9;Q9UEV4;Q9Y218", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0042802 identical protein binding;GO:0070530 K63-linked polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0007165 signal transduction;GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0008219 cell death;GO:0010508 positive regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 25.4, "record_id": "Q96CV9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00610-1", "uniprot_id": [ { "id": "CLH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00610", "type": "external" } ], "mass": 191615.0, "length": 1675, "protein_name": "Clathrin heavy chain 1", "gene_name": "CLTC", "organism": "Human", "refseq_name": "clathrin heavy chain 1 isoform 1", "refseq_ac": [ { "id": "NP_004850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004850", "type": "external" } ], "gene_names_uniprotkb": "CLTC; CLH17; CLTCL2; KIAA0034", "gene_names_refseq": "CHC17; CHC; CLH-17; CLTCL2; CLTC; Hc; MRD56", "protein_names_uniprotkb": "Clathrin heavy chain 1; CLH-17; Clathrin heavy chain on chromosome 17", "protein_names_refseq": "clathrin heavy chain 1 isoform 1; clathrin heavy chain 1; clathrin heavy chain on chromosome 17; clathrin, heavy polypeptide (Hc); clathrin, heavy polypeptide-like 2", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 56 (Disease Ontology:DOID:0080226); stomach cancer (Disease Ontology:DOID:10534); allergic disease (Disease Ontology:DOID:1205); arteriosclerosis (Disease Ontology:DOID:2349); hyperglycemia (Disease Ontology:DOID:4195); hypokalemia (Disease Ontology:DOID:4500); hepatocellular carcinoma (Disease Ontology:DOID:684); cataract (Disease Ontology:DOID:83); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetic neuropathy (Disease Ontology:DOID:9743); galactosemia (Disease Ontology:DOID:9870)", "pathway": " (hsa:1213); (R-HSA-168275); (R-HSA-177504); (R-HSA-190873); (R-HSA-196025); (R-HSA-2132295); (R-HSA-3928665); (R-HSA-432720); (R-HSA-437239); (R-HSA-5099900); (R-HSA-5140745); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8866427); (R-HSA-8964038); (R-HSA-9013420); (R-HSA-9013424); (R-HSA-9700645); (R-HSA-9725370)", "pathway_count": 19, "publication_count": 656, "publication_id_list": 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"class_list": "", "function": "Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]., [RefSeq]; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as a component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Plays a role in early autophagosome formation (PubMed:20639872). Interaction with DNAJC6 mediates the recruitment of HSPA8 to the clathrin lattice and creates local destabilization of the lattice promoting uncoating (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Expanding Our Knowledge of Molecular Pathogenesis in Histiocytoses: Solitary Soft Tissue Histiocytomas in Children With a Novel CLTC::SYK Fusion., [RefSeq, PubMed]; Knockout of CLTC gene reduces but not completely block SFTSV infection. 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, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DU00;Q6N0A0;Q86TF2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019901 protein kinase binding;GO:0050750 low-density lipoprotein particle receptor binding;GO:0005198 structural molecule activity;GO:0003725 double-stranded RNA binding", "go_cellular_component": "GO:0030118 clathrin coat;GO:0005768 endosome;GO:0005819 spindle;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006886 intracellular protein transport;GO:0031623 receptor internalization;GO:0051301 cell division;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 66.1, "record_id": "Q00610-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15418-1", "uniprot_id": [ { "id": "KS6A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15418", "type": "external" } ], "mass": 82723.0, "length": 735, "protein_name": "Ribosomal protein S6 kinase alpha-1", "gene_name": "RPS6KA1", "organism": "Human", "refseq_name": "ribosomal protein S6 kinase alpha-1 isoform b", "refseq_ac": [ { "id": "NP_001006666", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006666", "type": "external" } ], "gene_names_uniprotkb": "RPS6KA1; MAPKAPK1A; RSK1", "gene_names_refseq": "HU-1; MAPKAPK1A; MAPKAPK1; RPS6KA1; RSK1; RSK; p90Rsk", "protein_names_uniprotkb": "Ribosomal protein S6 kinase alpha-1; 2.7.11.1; 90 kDa ribosomal protein S6 kinase 1; MAP kinase-activated protein kinase 1a; MAPK-activated protein kinase 1a; MAPKAP kinase 1a; MAPKAPK-1a; RSK-1; Ribosomal S6 kinase 1; S6K-alpha-1; p90-RSK 1; p90RSK1; p90S6K", "protein_names_refseq": "90 kDa ribosomal protein S6 kinase 1; MAP kinase-activated protein kinase 1a; MAPK-activated protein kinase 1a; MAPKAP kinase 1a; MAPKAPK-1a; RSK-1; S6K-alpha 1; dJ590P13.1 (ribosomal protein S6 kinase, 90kD, polypeptide 1); p90-RSK 1; p90RSK1; p90S6K; ribosomal S6 kinase 1; ribosomal protein S6 kinase alpha-1 isoform b; ribosomal protein S6 kinase alpha-1; ribosomal protein S6 kinase, 90kDa, polypeptide 1", "tax_id": 9606, "disease": "alcohol-related birth defects (Disease Ontology:DOID:0050668); Coffin-Lowry syndrome (Disease Ontology:DOID:3783)", "pathway": " (hsa:6195); (R-HSA-198753); (R-HSA-199920); (R-HSA-2559582); (R-HSA-437239); (R-HSA-442742); (R-HSA-444257); (R-HSA-881907); (R-HSA-9856649)", "pathway_count": 9, "publication_count": 246, "publication_id_list": "10432220;10480933;10548110;10567402;10608864;10611221;10648825;10655586;10673502;10679322;10747093;10804209;10818153;11027551;11114305;11160957;11237011;11340163;11585927;11684016;11698596;11840323;11891324;11912130;11930005;12082080;12213813;12414794;12618428;12832467;12842905;12942088;14679213;14975237;15117958;15118077;15226305;15342917;15507434;15774718;16014379;16034366;16213824;16223362;16330023;16456541;16458888;16626623;16763566;16822840;16964243;1698554;17192257;17344846;17360704;1748288;17623675;17906627;17965187;18212344;18267069;18411265;18478542;18508509;18551195;18555777;18555778;18644867;18669648;18691976;18722121;18767875;18813292;19171933;19278660;19369195;19371592;19524539;19608861;19651622;19805069;19808666;20048145;20058876;20068231;20351173;20452968;20460180;20957203;21273600;21406692;21486943;2183031;21965087;21979375;22017876;22130794;22178396;22216126;22357623;22634325;22645359;22647378;23159739;23186163;23190890;23207919;23301498;23481700;23846687;2405250;24275569;24277696;2448316;24706756;24714562;24715725;25248477;25513777;25576301;25579842;25595898;25645385;25892735;26154972;26158630;26580203;26758079;26811146;26862730;26992070;27128622;27600516;27846572;27920218;28218747;28228285;28394346;28446606;28467828;28514659;28646679;28649982;28832583;28834231;28904123;29242379;29295999;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29594152;29615689;29632711;29652799;29769354;29786170;30059200;30315122;30379171;30410026;30429286;30484775;30804224;30842327;31217245;31530632;31844290;32157095;32350084;32357974;32502341;32605013;32636443;32637030;32897882;32938616;32983136;33043033;33141586;33214551;33260349;33298915;33592498;33633747;33691108;33717175;33744299;33912179;33936100;33968037;34140478;34171305;34357683;34509645;34561969;34932366;35051231;35254053;35318648;35513511;35580925;35772404;36241641;36284347;37414921;37462338;37770430;37938771;38253038;39216602;39333927;40307207;40596516;5338216;7493978;7551568;7958932;8141249;8234276;8336698;8349705;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9199364;9353119;9430688;9440696;9560246;9651214;9676189;9687510;9721721;9760192;9770464;9915826;9973413", "class_list": "", "function": "(Microbial infection) Promotes the late transcription and translation of viral lytic genes during Kaposi's sarcoma-associated herpesvirus/HHV-8 infection, when constitutively activated., [UniProtKB, PubMed]; Comprehensive analysis of the RSK gene family in acute myeloid leukemia determines a prognostic signature for the prediction of clinical prognosis and treatment responses., [RefSeq, PubMed]; PPP1R14B-mediated phosphorylation enhances protein stability of RPS6KA1 to promote hepatocellular carcinoma tumorigenesis., [RefSeq, PubMed]; RPS6KA1 is a histone acetylation-related oncoprotein in acute myeloid leukemia which is targeted by afzelin. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1 (PubMed:10679322, PubMed:12213813, PubMed:15117958, PubMed:16223362, PubMed:17360704, PubMed:18722121, PubMed:26158630, PubMed:35772404, PubMed:9430688). In fibroblast, is required for EGF-stimulated phosphorylation of CREB1, which results in the subsequent transcriptional activation of several immediate-early genes (PubMed:18508509, PubMed:18813292). In response to mitogenic stimulation (EGF and PMA), phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP (PubMed:12213813, PubMed:16223362). Upon insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at 'Ser-9' and inhibiting its activity (PubMed:18508509, PubMed:18813292). Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism and promotes translation initiation by facilitating assembly of the pre-initiation complex (PubMed:17360704). In response to insulin, phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation (PubMed:16763566). Is involved in the mTOR nutrient-sensing pathway by directly phosphorylating TSC2 at 'Ser-1798', which potently inhibits TSC2 ability to suppress mTOR signaling, and mediates phosphorylation of RPTOR, which regulates mTORC1 activity and may promote rapamycin-sensitive signaling independently of the PI3K/AKT pathway (PubMed:15342917). Also involved in feedback regulation of mTORC1 and mTORC2 by phosphorylating DEPTOR (PubMed:22017876). Mediates cell survival by phosphorylating the pro-apoptotic proteins BAD and DAPK1 and suppressing their pro-apoptotic function (PubMed:10679322, PubMed:16213824). Promotes the survival of hepatic stellate cells by phosphorylating CEBPB in response to the hepatotoxin carbon tetrachloride (CCl4) (PubMed:11684016). Mediates induction of hepatocyte prolifration by TGFA through phosphorylation of CEBPB (PubMed:18508509, PubMed:18813292). Is involved in cell cycle regulation by phosphorylating the CDK inhibitor CDKN1B, which promotes CDKN1B association with 14-3-3 proteins and prevents its translocation to the nucleus and inhibition of G1 progression (PubMed:18508509, PubMed:18813292). Phosphorylates EPHA2 at 'Ser-897', the RPS6KA-EPHA2 signaling pathway controls cell migration (PubMed:26158630). In response to mTORC1 activation, phosphorylates EIF4B at 'Ser-406' and 'Ser-422' which stimulates bicarbonate cotransporter SLC4A7 mRNA translation, increasing SLC4A7 protein abundance and function (PubMed:35772404)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The ribosomal protein S6 kinase alpha-1 (RPS6KA1) induces resistance to venetoclax/azacitidine in acute myeloid leukemia., [RefSeq, PubMed]; This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [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, "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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 29, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NGG4;A8K9K7;B2RDY8;B7Z5J0;E9PRI4;Q5SVM5;Q5SVM8;Q5SVM9;Q96C05;Q9BQK2", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004711 ribosomal protein S6 kinase activity;GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004712 protein serine/threonine/tyrosine kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045202 synapse", "go_biological_process": "GO:0072574 hepatocyte proliferation;GO:0043555 regulation of translation in response to stress;GO:2000491 positive regulation of hepatic stellate cell activation;GO:0006468 protein phosphorylation;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 25.2, "record_id": "Q15418-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q709F0-1", "uniprot_id": [ { "id": "ACD11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q709F0", "type": "external" } ], "mass": 87264.0, "length": 780, "protein_name": "Acyl-CoA dehydrogenase family member 11", "gene_name": "ACAD11", "organism": "Human", "refseq_name": "acyl-CoA dehydrogenase family member 11", "refseq_ac": [ { "id": "NP_115545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115545", "type": "external" } ], "gene_names_uniprotkb": "ACAD11", "gene_names_refseq": "ACAD-11; ACAD11", "protein_names_uniprotkb": "Acyl-CoA dehydrogenase family member 11; 1.3.8.8; ACAD-11", "protein_names_refseq": "acyl-CoA dehydrogenase family member 11; acyl-Coenzyme A dehydrogenase family, member 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:84129); (R-HSA-77289)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "11237011;11696000;12882974;15638818;16423998;16934754;16940157;17762044;17953517;18268358;18452278;19170545;20338778;20470824;21237683;22465940;22586271;22871024;23481700;23700546;23901139;24080521;24732803;25002576;25418920;25576301;25704813;26290611;27920218;28514659;28834231;29557506;30315122;30429286;30484775;31217245;31844290;32157095;32387766;32488085;32897882;32938616;33141586;33592498;33912179;33968037;33981976;34087483;34171305;34357683;34509645;34561969;35051231;35580925;36010968;36241641;38253038;4721607;8241273", "class_list": "", "function": "ACAD11 utilizes substrates with primary carbon chain lengths between 20 and 26, with optimal activity towards C22CoA, [RefSeq, PubMed]; Acad11, encoding a protein involved in fatty acid oxidation, is required for efficient OXPHOS and cell survival upon glucose starvation., [RefSeq, PubMed]; Participates in fatty acid beta-oxidation (FAO) and energy production in the central nervous system (CNS), and to a lesser extent in the liver (PubMed:21237683). Catalyzes the first step in FAO, which consists in the proR-proR stereospecific alpha,beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor, with maximal activity towards saturated docosanoyl-CoA (CoA 22:0) in both the cerebellum and the liver (PubMed:21237683). Among the different mitochondrial acyl-CoA dehydrogenases, its FAO activity overlaps with that of ACADV and ACADL, but plays a primary role in tissues where it is the main long-chain ACAD expressed, such as the CNS, where together with ACAD9, they accommodate the full spectrum of long chain fatty acid substrates (PubMed:21237683)., [UniProtKB, PubMed]; This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]., [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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "Q08AF0;Q658N9;Q658Y2;Q6ZND2;Q8WUT6;Q9H9R3", "ec_number_list": [ { "id": "1.3.8.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.7", "type": "external" }, { "id": "1.3.8.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.8", "type": "external" }, { "id": "1.3.8.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.9", "type": "external" } ], "go_molecular_function": "GO:0003995 acyl-CoA dehydrogenase activity;GO:0004466 long-chain fatty acyl-CoA dehydrogenase activity;GO:0050660 flavin adenine dinucleotide binding;GO:0070991 medium-chain fatty acyl-CoA dehydrogenase activity;GO:0017099 very-long-chain fatty acyl-CoA dehydrogenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005777 peroxisome", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q709F0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75592-1", "uniprot_id": [ { "id": "MYCB2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75592", "type": "external" } ], "mass": 513636.0, "length": 4678, "protein_name": "E3 ubiquitin-protein ligase MYCBP2", "gene_name": "MYCBP2", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase MYCBP2", "refseq_ac": [ { "id": "NP_055872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055872", "type": "external" } ], "gene_names_uniprotkb": "MYCBP2; KIAA0916; PAM", "gene_names_refseq": "MYCBP2; Myc-bp2; PAM; PHR1; Phr", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase MYCBP2; 2.3.2.33; Myc-binding protein 2; Protein associated with Myc", "protein_names_refseq": "E3 ubiquitin-protein ligase MYCBP2; Highwire; MYC binding protein 2, E3 ubiquitin protein ligase; PAM/Highwire/RPM-1 protein 1; RING-type E3 ubiquitin transferase MYCBP2; myc-binding protein 2; protein associated with Myc", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); colon cancer (Disease Ontology:DOID:219); thyroid gland carcinoma (Disease Ontology:DOID:3963); brain disease (Disease Ontology:DOID:936)", "pathway": " (hsa:23077)", "pathway_count": 1, "publication_count": 109, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14559897;15257286;17081983;18160138;18308511;18669648;18691976;19369195;19398581;19690332;20068231;20534529;22357847;23186163;23481700;24275569;25418920;25645385;25892735;26304119;26375851;26728094;27278822;27600516;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28860189;29242379;29293652;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29643511;29769354;29786170;29789417;30192525;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31020640;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34509645;34561969;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36200388;36241641;36284347;36581221;36582246;37340703;37938771;38253038;38289221;9689053", "class_list": "", "function": "Atypical E3 ubiquitin-protein ligase which specifically mediates ubiquitination of threonine and serine residues on target proteins, instead of ubiquitinating lysine residues (PubMed:29643511). Shows esterification activity towards both threonine and serine, with a preference for threonine, and acts via two essential catalytic cysteine residues that relay ubiquitin to its substrate via thioester intermediates (PubMed:29643511). Interacts with the E2 enzymes UBE2D1, UBE2D3, UBE2E1 and UBE2L3 (PubMed:18308511, PubMed:29643511). Plays a key role in neural development, probably by mediating ubiquitination of threonine residues on target proteins (Probable). Involved in different processes such as regulation of neurite outgrowth, synaptic growth, synaptogenesis and axon degeneration (By similarity). Required for the formation of major central nervous system axon tracts (By similarity). Required for proper axon growth by regulating axon navigation and axon branching: acts by regulating the subcellular location and stability of MAP3K12/DLK (By similarity). Required for proper localization of retinogeniculate projections but not for eye-specific segregation (By similarity). Regulates axon guidance in the olfactory system (By similarity). Involved in Wallerian axon degeneration, an evolutionarily conserved process that drives the loss of damaged axons: acts by promoting destabilization of NMNAT2, probably via ubiquitination of NMNAT2 (By similarity). Catalyzes ubiquitination of threonine and/or serine residues on NMNAT2, consequences of threonine and/or serine ubiquitination are however unknown (PubMed:29643511). Regulates the internalization of TRPV1 in peripheral sensory neurons (By similarity). Mediates ubiquitination and subsequent proteasomal degradation of TSC2/tuberin (PubMed:18308511, PubMed:27278822). Independently of the E3 ubiquitin-protein ligase activity, also acts as a guanosine exchange factor (GEF) for RAN in neurons of dorsal root ganglia (PubMed:26304119). May function as a facilitator or regulator of transcriptional activation by MYC (PubMed:9689053). Acts in concert with HUWE1 to regulate the circadian clock gene expression by promoting the lithium-induced ubiquitination and degradation of NR1D1 (PubMed:20534529)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects., [RefSeq, PubMed]; MYCBP2 expression correlated with inflammatory cell infiltration and prognosis immunotherapy in thyroid cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; PAM the longest lasting nontranscriptional regulator of adenylyl cyclase activity known to date and presents a novel mechanism for the temporal regulation of cAMP signaling, [RefSeq, PubMed]; Pam, through its interaction with tuberin, could regulate the ubiquitination and proteasomal degradation of the tuberin-hamartin complex particularly in the CNS, [RefSeq, PubMed]; This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]., [RefSeq]; Ubiquitin ligase and signalling hub MYCBP2 is required for efficient EPHB2 tyrosine kinase receptor function. Publication Status: Online-Only, [RefSeq, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 62, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A6NJC6;Q5JSX8;Q5VZN6;Q6PIB6;Q9UQ11;Q9Y6E4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0061630 ubiquitin protein ligase activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:1902667 regulation of axon guidance;GO:0050905 neuromuscular process;GO:0051124 synaptic assembly at neuromuscular junction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "O75592-1", "record_type": "protein", "filter_code": "0000000.1100111.000100.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBL3-1", "uniprot_id": [ { "id": "ASH2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBL3", "type": "external" } ], "mass": 68723.0, "length": 628, "protein_name": "Set1/Ash2 histone methyltransferase complex subunit ASH2", "gene_name": "ASH2L", "organism": "Human", "refseq_name": "set1/Ash2 histone methyltransferase complex subunit ASH2 isoform b", "refseq_ac": [ { "id": "NP_001098684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098684", "type": "external" } ], "gene_names_uniprotkb": "ASH2L; ASH2L1", "gene_names_refseq": "ASH2L1; ASH2L2; ASH2L; ASH2; Bre2", "protein_names_uniprotkb": "Set1/Ash2 histone methyltransferase complex subunit ASH2; ASH2-like protein", "protein_names_refseq": "ASH2-like protein; ash2 (absent, small, or homeotic)-like; set1/Ash2 histone methyltransferase complex subunit ASH2 isoform b; set1/Ash2 histone methyltransferase complex subunit ASH2", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:9070); (R-HSA-201722); (R-HSA-3214841); (R-HSA-3769402); (R-HSA-5617472); (R-HSA-8936459); (R-HSA-9772755); (R-HSA-9818564); (R-HSA-9841922); (R-HSA-9909649); (R-HSA-9944997); (R-HSA-9976102)", "pathway_count": 12, "publication_count": 340, "publication_id_list": "10.1101/2023.09.13.557529;10080941;10393421;10425206;10485845;10549281;10558993;10617663;10769018;10775268;10777502;10831834;10835357;10882139;10898789;10921920;10944533;10949293;11027271;11050151;11080158;11136974;11237011;11466562;11532957;11691915;11713476;11934263;11955446;11959841;11973335;11988739;12123582;12130538;12163411;12393701;12408824;12408825;12453418;12482972;12483298;12540855;12576332;12670868;12712206;12829629;1310260;14536086;14600025;14636557;14685266;14690610;14695187;14992727;15060161;15121853;15132997;15145825;15199122;15235609;15294866;15327769;15525529;15768032;15829968;15867264;15960975;15964846;16005293;16079151;16118227;16169192;16199523;16227571;16239140;16253997;16292313;16380219;16510874;16519522;16549775;16628190;16630820;16682010;16756492;16805913;16829959;16878130;16892064;17021013;17052462;17185360;17218525;17355966;17412698;17425782;17428788;17428831;17458864;17500065;17544230;1756725;17612494;17660710;17671196;17698607;17707229;17713478;17761849;17761950;17851529;17875931;17925232;17998332;18160704;18172012;18316480;18347063;18378692;18404694;18452278;18456656;18498752;18573912;18598779;18598942;18781158;18819930;18829457;18829459;18838386;18838538;19043829;19047045;19088198;19103755;19114653;19115252;19124460;19131338;19148484;19172745;19187761;19232136;19364920;19460168;19487454;19493659;19509293;19556245;19571879;19590513;19651622;19747919;1975088;19782034;19808676;19854132;19928349;19940019;20018852;20068231;20085832;20305658;20339092;20575550;20716525;20876458;20961854;21106533;21124902;21129147;21131905;21131967;21135039;21196496;21220120;21252065;21285357;21654818;21660059;21725049;21726809;21740066;21779408;21832073;22099308;22186018;22190459;22266653;22304967;22327296;22544926;22569366;22617422;22652693;22665483;22705304;22777353;22879880;22898188;22939622;22982193;23186163;23219899;23301498;23481700;23508102;23534758;23630040;23995757;24174538;24244196;24291232;24312487;24368734;24586203;24680668;24715725;25101834;25135475;25561738;25576301;25593305;25645385;2570724;25913784;26010396;26154972;26324722;26375851;26886794;26992070;27543614;27563068;27600516;27698142;27760318;28182322;28228285;28398509;28510447;28649982;28832583;28834231;28904123;29138278;29242379;29493099;29508533;29557506;29632711;29786170;29897600;29937342;30107592;30315122;30385408;30429286;30484775;30524438;30833945;31154438;31222486;31400120;31485071;31544921;31844290;31848261;31937595;31998317;32157095;32161166;32183950;32357974;32387766;32488085;32502341;32860047;32897882;32938616;32983136;33141586;33298915;33329381;33392160;33592498;33657400;33691108;33717175;33912179;33936100;33964939;33968037;33981976;34012049;34019948;34087483;34171305;34211107;34405274;34509645;34932366;34933446;35033534;35051231;35190547;35439434;35561310;35580925;36010968;36215666;36241641;37262949;37938771;40914422;7488013;7501971;7831296;7906964;7908827;8521497;8521498;8674428;8756721;8757136;8759021;8955148;9065481;9118222;9171241;9218805;9272954;9482740;9488439;9490669;9744270;9751710;9819412;9843967", "class_list": "", "function": "ASH2L, a COMPASS core subunit, is involved in the cell invasion and migration of triple-negative breast cancer cells through the epigenetic control of histone H3 lysine 4 methylation., [RefSeq, PubMed]; CircASH2L facilitates tumor-like biologic behaviours and inflammation of fibroblast-like synoviocytes via miR-129-5p/HIPK2 axis in rheumatoid arthritis. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanism for DPY30 and ASH2L intrinsically disordered regions to modulate the MLL/SET1 activity on chromatin. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional regulator (PubMed:12670868). Component or associated component of some histone methyltransferase complexes which regulates transcription through recruitment of those complexes to gene promoters (PubMed:19131338). Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated (PubMed:19556245). As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3 (PubMed:19556245). May play a role in hematopoiesis (PubMed:12670868). In association with RBBP5 and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B (PubMed:21220120, PubMed:22266653)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7C3;D3DSW9;O60659;O60660;Q96B62", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0035097 histone methyltransferase complex;GO:0044666 MLL3/4 complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0006974 DNA damage response;GO:0030097 hemopoiesis;GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0043627 response to estrogen", "synthesized_glycan_count": 0, "hit_score": 34.5, "record_id": "Q9UBL3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14246-1", "uniprot_id": [ { "id": "AGRE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14246", "type": "external" } ], "mass": 97683.0, "length": 886, "protein_name": "Adhesion G protein-coupled receptor E1", "gene_name": "ADGRE1", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor E1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001243181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243181", "type": "external" } ], "gene_names_uniprotkb": "ADGRE1; EMR1; TM7LN3", "gene_names_refseq": "ADGRE1; EMR1; TM7LN3", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor E1; EGF-like module receptor 1; EGF-like module-containing mucin-like hormone receptor-like 1; EMR1 hormone receptor", "protein_names_refseq": "EGF-like module receptor 1; EGF-like module-containing mucin-like hormone receptor-like 1; EMR1 hormone receptor; adhesion G protein-coupled receptor E1 isoform 2 precursor; egf-like module containing, mucin-like, hormone receptor-like 1; egf-like module containing, mucin-like, hormone receptor-like sequence 1", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); congenital nonspherocytic hemolytic anemia 2 (Disease Ontology:DOID:0111077); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); malaria (Disease Ontology:DOID:12365); Gaucher's disease (Disease Ontology:DOID:1926); congenital nonspherocytic hemolytic anemia (Disease Ontology:DOID:2861); hyperglycemia (Disease Ontology:DOID:4195); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2015); (R-HSA-373080)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10097073;11237011;11297558;12098667;12559132;15498814;16602827;17823986;18801728;20966082;22424782;23481700;24530099;24715725;25576301;25713288;26154972;26375851;26992070;28005267;28218747;28228285;28514659;28832583;28904123;29393594;29437277;29508533;29557506;29632046;30315122;30484775;30833945;31844290;31937595;31998317;32357974;32387766;32938616;33141586;33912179;34087483;34357683;34405274;34411563;34486997;34561969;35051231;35580925;3616618;38673975;6950381;7601460;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337", "class_list": "", "function": "EMR1 expression is significantly upregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; Orphan receptor involved in cell adhesion and probably in cell-cell interactions specifically involving cells of the immune system. May play a role in regulatory T-cells (Treg) development., [UniProtKB, UniProtKB]; The myeloid cell biomarker EMR1 is ectopically expressed in colon cancer., [RefSeq, PubMed]; This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]; Upregulation of EMR1 (ADGRE1) by Tumor-Associated Macrophages Promotes Colon Cancer Progression by Activating the JAK2/STAT1,3 Signaling Pathway in Tumor Cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 12, "predicted_n_glycosites": 12, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A6NHV2;B7Z486;B7Z489;E7EPX9;E9PD45;H9KV79;Q2I7G5;Q6ZMN0;Q8NGA7", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q14246-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T8D3-1", "uniprot_id": [ { "id": "ACBD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T8D3", "type": "external" } ], "mass": 60092.0, "length": 534, "protein_name": "Acyl-CoA-binding domain-containing protein 5", "gene_name": "ACBD5", "organism": "Human", "refseq_name": "acyl-CoA-binding domain-containing protein 5 isoform 2", "refseq_ac": [ { "id": "NP_001035938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035938", "type": "external" } ], "gene_names_uniprotkb": "ACBD5; KIAA1996", "gene_names_refseq": "ACBD5; RDLKD", "protein_names_uniprotkb": "Acyl-CoA-binding domain-containing protein 5", "protein_names_refseq": "acyl-CoA-binding domain-containing protein 5 isoform 2; acyl-Coenzyme A binding domain containing 5; endozepine-related protein; membrane-associated diazepam binding inhibitor", "tax_id": 9606, "disease": "retinal dystrophy with leukodystrophy (Disease Ontology:DOID:0080946); peroxisomal disease (Disease Ontology:DOID:906)", "pathway": " (hsa:91452); (R-HSA-390918); (R-HSA-8980692); (R-HSA-9013106); (R-HSA-9603798)", "pathway_count": 5, "publication_count": 231, "publication_id_list": "10.1101/2023.09.13.557529;10037681;10232922;10430017;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10704444;10777549;10873388;11058585;11085924;11207612;11237011;11373293;11390669;11396949;11402059;11415433;11431473;11432776;11453642;11590176;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11883941;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12531887;12650940;12751901;12857875;12877655;12924628;14512443;14709540;15007061;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15713480;15781447;15850391;15866170;16112081;16116428;16184169;16185196;16217026;16280322;16362076;16467373;16519628;16630611;16776779;16777452;16777849;16791427;16862148;16895967;16896804;16914516;16980692;17069900;17077126;17081983;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18174172;18218625;18318008;18669648;18691976;18782765;18799520;18829452;19494238;19605563;19635168;19673492;19713215;20030946;20101212;20400958;20531392;20554521;20591975;20626622;20628200;20660154;21102411;21148482;21351730;21454492;21565175;21576392;21699497;21757538;21865595;21936715;22096251;22298643;22305756;22624858;22673745;22790947;22911862;22992742;23105016;23186163;23200924;23255595;23434736;23460677;23572525;23628762;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24535825;24714562;24905344;24933155;25062251;25211221;25425145;25517356;25704760;26154972;26371245;26529257;26777132;26887924;27145964;27216196;27481945;27799409;27986909;28112683;28196833;28281558;28325759;28510447;28584191;28904123;29146911;29557506;30379171;31105010;31217245;31844290;31871319;32157095;32203420;32488085;32938616;33298915;33427402;33592498;33691108;33912179;33936100;33968037;34171305;34668366;35019937;35051231;36010968;37414147;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9418908;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) may have a role in autosomal dominant thrombocytopenia, [RefSeq, PubMed]; Acyl-CoA binding protein which acts as the peroxisome receptor for pexophagy but is dispensable for aggrephagy and nonselective autophagy. Binds medium- and long-chain acyl-CoA esters., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism., [RefSeq, PubMed]; First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature., [RefSeq, PubMed]; Newly defined peroxisomal disease with novel ACBD5 mutation. Publication Status: Online-Only, [RefSeq, PubMed]; Regulating peroxisome-ER contacts via the ACBD5-VAPB tether by FFAT motif phosphorylation and GSK3beta., [RefSeq, PubMed]; This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]; Yeast Atg37, which is homologous to human ACBD5, is involved in autophagy of peroxisomes., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KQ56;D3DRW0;Q5T8D4;Q5T8E1;Q5T8E2;Q86UV1;Q8N6E3;Q9UFB5", "ec_number_list": [], "go_molecular_function": "GO:0000062 fatty-acyl-CoA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0009062 fatty acid catabolic process;GO:0000425 pexophagy", "synthesized_glycan_count": 0, "hit_score": 23.6, "record_id": "Q5T8D3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4L235-1", "uniprot_id": [ { "id": "ACSF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4L235", "type": "external" } ], "mass": 122597.0, "length": 1098, "protein_name": "Beta-alanine-activating enzyme", "gene_name": "AASDH", "organism": "Human", "refseq_name": "beta-alanine-activating enzyme isoform 2", "refseq_ac": [ { "id": "NP_001273597", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273597", "type": "external" } ], "gene_names_uniprotkb": "AASDH; ACSF4; HSPC318; U26", "gene_names_refseq": "AASDH; ACSF4; LYS2; NRPS1098; NRPS998", "protein_names_uniprotkb": "Beta-alanine-activating enzyme; 6.2.1.-; Acyl-CoA synthetase family member 4; Protein NRPS998", "protein_names_refseq": "2-aminoadipic 6-semialdehyde dehydrogenase; acyl-CoA synthetase family member 4; beta-alanine-activating enzyme isoform 2; beta-alanine-activating enzyme; non-ribosomal peptide synthetase 1098; non-ribosomal peptide synthetase 998", "tax_id": 9606, "disease": "", "pathway": " (hsa:132949)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;15865210;21406692;23186163;24467666;24715725;25505266;25576301;25645385;25892735;26992070;27846572;27862975;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29437277;29557506;29632046;29769354;29786170;30315122;30524438;31217245;31844290;32157095;32357974;32387766;32502341;32938616;33298915;33592498;33912179;33968037;34087483;34171305;34357683;34509645;35051231;35580925;36241641", "class_list": "", "function": "ACSF4 (U26) is a beta-alanine activating enzyme homologous to bacterial nonribosomal peptide synthetase. Experiments using the mouse protein suggest this enzyme may be involved in a rare intracellular reaction, possibly an infrequent post-translational or post-transcriptional modification., [RefSeq, PubMed]; Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA., [UniProtKB, UniProtKB]; Human 2-aminoadipic 6-semialdehyde dehydrogenase gene was cloned; its mRNA is ubiquitously expressed in adult tissues and is highly expressed in colon adenocarcinoma (CX-1) and colon adenocarcinoma (GI-112) cell lines., [RefSeq, PubMed]; This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "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": "A5D8V3;A5PL22;Q63HK2;Q63HR7;Q6IPP8;Q6TFZ6;Q7Z5Y3;Q96BW4;Q9P064", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016874 ligase activity", "go_cellular_component": "", "go_biological_process": "GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q4L235-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX66-1", "uniprot_id": [ { "id": "SRBS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX66", "type": "external" } ], "mass": 142513.0, "length": 1292, "protein_name": "Sorbin and SH3 domain-containing protein 1", "gene_name": "SORBS1", "organism": "Human", "refseq_name": "sorbin and SH3 domain-containing protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001030126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030126", "type": "external" } ], "gene_names_uniprotkb": "SORBS1; KIAA0894; KIAA1296; SH3D5", "gene_names_refseq": "CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1; SORBS1", "protein_names_uniprotkb": "Sorbin and SH3 domain-containing protein 1; CAP; Ponsin; SH3 domain protein 5; SH3P12; c-Cbl-associated protein", "protein_names_refseq": "Fas-ligand associated factor 2; SH3 domain protein 5; c-Cbl associated protein; ponsin; sorbin and SH3 domain-containing protein 1 isoform 3", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:10580); (R-HSA-445355)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10991994;11230166;11237011;11242081;11371513;11374898;11457814;11532984;11532985;11889009;12048254;12504111;14506282;14627618;15377279;156362;16959974;17055381;17462669;17784760;18669648;18974361;1930128;19380584;19413330;19664994;19664995;19891780;20068231;20166139;21406692;22421042;22778174;23186163;23481700;23834404;24275569;24872348;2526655;25502872;25645385;26362469;2764880;27679490;28657654;28741090;28904123;29557506;29632711;29786170;30379171;30429286;31154438;31844290;31848261;32157095;32350084;32488085;32938616;34561969;35051231;35196185;35580925;36010968;36284347;36854874;37164919;3780718;37938771;38212723;38915053;8858389;9481611;9598563;9600334;9855623", "class_list": "", "function": "CircSORBS1 inhibits lung cancer progression by sponging miR-6779-5p and directly binding RUFY3 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; Down-regulation and clinical significance of Sorbin and SH3 domain-containing protein 1 in bladder cancer tissues., [RefSeq, PubMed]; Increased serum extrachromosomal circular DNA SORBS1[circle] level is associated with insulin resistance in patients with newly diagnosed type 2 diabetes mellitus. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-223-3p increases resistance of colorectal cancer cells to 5-fluorouracil via targeting SORBS1., [RefSeq, PubMed]; MicroRNA miR-3646 promotes malignancy of lung adenocarcinoma cells by suppressing sorbin and SH3 domain-containing protein 1 via the c-Jun NH2-terminal kinase signaling pathway., [RefSeq, PubMed]; Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for insulin-stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By similarity)., [UniProtKB, UniProtKB]; This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]., [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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 41, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "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": "A0AED4;A6NEK3;A6NID8;A6NJS4;A7MD40;D3DR42;O43857;Q5T923;Q5T924;Q5T927;Q5T928;Q5T929;Q5T930;Q5T931;Q5T932;Q7LBE5;Q8IVK0;Q8IVQ4;Q96KF3;Q96KF4;Q9BX64;Q9BX65;Q9P2Q0;Q9UFT2;Q9UHN7;Q9Y338", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005158 insulin receptor binding;GO:0008092 cytoskeletal protein binding;GO:0030159 signaling receptor complex adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0032869 cellular response to insulin stimulus;GO:0046889 positive regulation of lipid biosynthetic process;GO:0007160 cell-matrix adhesion;GO:0007010 cytoskeleton organization;GO:1903078 positive regulation of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9BX66-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04792-1", "uniprot_id": [ { "id": "HSPB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P04792", "type": "external" } ], "mass": 22783.0, "length": 205, "protein_name": "Heat shock protein beta-1", "gene_name": "HSPB1", "organism": "Human", "refseq_name": "heat shock protein beta-1", "refseq_ac": [ { "id": "NP_001531", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001531", "type": "external" } ], "gene_names_uniprotkb": "HSPB1; HSP27; HSP28", "gene_names_refseq": "CMT2F; HEL-S-102; HMN2B; HMND3; HS.76067; HSP27; HSP28; HSPB1; Hsp25; SRP27", "protein_names_uniprotkb": "Heat shock protein beta-1; 28 kDa heat shock protein; Estrogen-regulated 24 kDa protein; HSP 27; Heat shock 27 kDa protein; Heat shock protein family B member 1; HspB1; SRP27; Stress-responsive protein 27", "protein_names_refseq": "28 kDa heat shock protein; epididymis secretory protein Li 102; estrogen-regulated 24 kDa protein; heat shock 27 kDa protein; heat shock 27kD protein 1; heat shock 27kDa protein 1; heat shock protein beta-1; heat shock protein family B member 1; stress-responsive protein 27", "tax_id": 9606, "disease": "adult-onset myofibrillar myopathy 2A (Disease Ontology:DOID:0080093); Charcot-Marie-Tooth disease axonal type 2F (Disease Ontology:DOID:0110163); autosomal dominant distal hereditary motor neuronopathy 3 (Disease Ontology:DOID:0111207); Alzheimer's disease (Disease Ontology:DOID:10652); sarcoma (Disease Ontology:DOID:1115); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); pancreatic cancer (Disease Ontology:DOID:1793); transient cerebral ischemia (Disease Ontology:DOID:224); rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:3315); (R-HSA-4420097); (R-HSA-450408); (R-HSA-5687128); (R-HSA-9009391)", "pathway_count": 5, "publication_count": 493, "publication_id_list": "10037737;10075701;10205060;10207622;10319328;10383393;10395673;10427092;10470034;10559216;10677529;10692392;10744763;10749680;10749889;10751411;10777697;10806474;10975528;11007481;11029009;11029403;11043579;11044445;11185956;11237011;11278486;11342557;11369763;11383510;11584266;11689445;11695992;11696015;11773442;11773443;11804587;11825873;11842200;11912188;11981029;12048194;12134158;12136087;12214271;12215529;12367505;12388769;12391143;12421825;12431978;12464388;12511868;12546821;12588983;12660731;12682286;12740362;12808053;12808096;12810700;12816978;12819195;12820653;12881510;12915405;1332886;1378832;14715258;14717697;14724572;14764897;14978097;15026417;15033483;15044318;15090535;15122254;15226418;15231873;15236192;15247219;15257295;15302935;15308668;15314172;15467163;15496458;15538386;15569929;15577943;1560006;15657067;15682460;15688067;15695828;15705661;15728188;15731106;15819993;15832340;15956360;15962004;15976317;16239258;16274718;16336962;16360641;16371649;16548883;16556936;16565220;16636149;16645038;16760434;16835357;16840785;16964243;16966330;16971392;16973613;17004241;17030947;17037979;17069861;17081983;17161475;17199126;17237347;17254968;17293873;1730670;17349631;17367746;17395884;17424910;17525128;17535799;17570131;17576778;1763035;17686471;17697330;17728103;17767420;17916631;17916740;17921256;17924679;17947239;17949744;18031682;18088087;18162290;18206197;18212344;18235225;18248330;18369606;18440775;18573886;18578522;18593949;18644862;18657504;18669648;18688712;18691976;18707149;18720373;18720982;18767875;18832141;18931701;18952241;18991276;19007248;19138696;19166925;19230644;19267251;19290620;19296652;19411251;19415658;19464326;19473979;19513348;19562805;19593530;19608861;19615748;19651622;19664994;19664995;19691289;19767773;19879889;20058876;20068231;20166139;20178975;20230923;20234090;20236090;20363977;20439495;20497126;20536836;20543837;20600103;20626350;20640477;20650261;20658524;20661426;20734105;20849292;20861220;20870250;21157431;21177870;21245386;21317288;21329875;21329882;21338617;21364669;21372320;21445309;21575178;21680538;21851428;21989268;21999932;22028449;22031296;22116673;22121020;22176143;22206013;22266855;22267219;22279049;22322011;22327215;22424782;2243808;22446104;22505454;22508986;22645359;22647853;22661428;22664592;22689825;22800433;22911792;2295696;22974980;23026841;23069990;23112078;23186163;23216836;23301498;23382286;23481700;23643870;23728742;23852020;23878308;23900529;23948568;23950959;24039841;24129315;24176848;24182452;24275569;24308965;24309468;24366607;24530924;24585635;24699855;24714562;24715725;24816797;24882106;25086905;25339975;25364415;25418920;25446109;25502872;25569678;25576301;25587652;25645385;25699602;25710824;25802875;25892735;25965061;26046355;26105860;26154972;26329039;26374642;26375851;26728094;26758079;26811146;26867010;26887051;26929215;26992070;27187380;27288742;2743305;27451881;27452731;27492805;27600495;27600516;27862975;27890797;27920218;28032559;28144995;28218747;28228285;28411811;28460458;28514659;28539435;28657654;28671960;28832583;28834231;28860189;28904123;29237092;29242379;29328466;29393594;29437277;29444163;29493099;29508533;29557506;29632046;29632711;29699584;29729335;29738483;29786170;29789417;29864522;30059200;30106436;30192525;30315122;30379171;30397120;30410026;30484775;30524438;30620550;30626607;30779550;30780033;30784271;30833945;31154438;31217245;31222486;31373491;31492838;31530632;31611695;31637018;31844290;31848261;31937595;32157095;32265295;32296033;32350084;32350194;32357974;32387766;32488085;32502341;32506039;32545363;32566403;32570757;32574038;32576196;32897882;32938616;32938750;32983136;33091337;33119719;33130378;33141586;33202651;33214551;33392160;33477989;33537174;33592498;33633747;33717175;33723378;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34725712;34846842;34932366;35008409;35051231;35083852;35132862;35254053;35289036;35318648;35499078;35513511;35561310;35580925;35945269;36173053;36215666;36241641;36284347;3714473;37217939;37340703;37540114;37541260;37938771;38578345;38661247;38665916;39239519;39302247;39531497;39534244;39990658;40596516;41350704;7509446;7526779;7559638;7750475;7799959;8093612;8107774;8307152;8325890;8617235;8626550;8760827;8774846;8782602;8843730;8876252;8986718;9099726;9173876;9182576;9393975;9395517;9398617;9472046;9535855;9565625;9616126;9628874;9747882", "class_list": "", "function": "HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family., [RefSeq, PubMed]; STUB1 promotes the degradation of HSPB1 and induces ferroptosis in lung cancer cells., [RefSeq, PubMed]; Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state (PubMed:10383393, PubMed:20178975). Plays a role in stress resistance and actin organization (PubMed:19166925). Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins (PubMed:23728742)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The biphasic role of Hspb1 on ferroptotic cell death in Parkinson's disease. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]., [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": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 45, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2R4N8;Q6FI47;Q96C20;Q96EI7;Q9UC31;Q9UC34;Q9UC35;Q9UC36", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0099641 anterograde axonal protein transport;GO:2001028 positive regulation of endothelial cell chemotaxis;GO:0010506 regulation of autophagy;GO:0035556 intracellular signal transduction;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 50.2, "record_id": "P04792-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4KMG0-1", "uniprot_id": [ { "id": "CDON_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4KMG0", "type": "external" } ], "mass": 139147.0, "length": 1287, "protein_name": "Cell adhesion molecule-related/down-regulated by oncogenes", "gene_name": "CDON", "organism": "Human", "refseq_name": "cell adhesion molecule-related/down-regulated by oncogenes isoform 1 precursor", "refseq_ac": [ { "id": "NP_001230526", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230526", "type": "external" } ], "gene_names_uniprotkb": "CDON; CDO", "gene_names_refseq": "CDON1; CDON; CDO; HPE11; Ihog; ORCAM", "protein_names_uniprotkb": "Cell adhesion molecule-related/down-regulated by oncogenes", "protein_names_refseq": "Cdon homolog; cell adhesion molecule-related/down-regulated by oncogenes isoform 1 precursor; cell adhesion molecule-related/down-regulated by oncogenes; surface glycoprotein, Ig superfamily member", "tax_id": 9606, "disease": "holoprosencephaly 11 (Disease Ontology:DOID:0110877)", "pathway": " (hsa:50937); (R-HSA-525793); (R-HSA-5632681); (R-HSA-5635838)", "pathway_count": 4, "publication_count": 101, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10050855;10330143;10601328;10805738;10966113;11237011;11782431;11841368;12569124;12620190;12634428;14614827;14636583;15019948;15294024;15618519;15691767;16136078;16630821;16647304;16908539;17086203;17504940;17504941;17641202;17960137;18497258;18559595;18794898;18815277;19196978;19218434;19365551;19561609;19561611;19564926;19948480;20160094;20519495;20844013;20844016;21356043;21659505;21664576;21664577;21695114;21802063;21842183;22277298;22326621;22981989;22986504;23026747;23481700;23584533;23719536;23877428;23900540;24582806;24715725;24845016;24925320;25369201;25576301;25645385;26529631;27846572;28228285;29242379;30192525;30315122;30779550;31154438;31844290;32157095;32350084;32357974;32729136;32799327;33298915;33392160;33537174;33592498;33968037;34185709;35051231;35580925;36010968;36609601;38894838;8898207;8906787;8906794;9069290;9214393;9418854;9786951;9858528;9988769", "class_list": "", "function": "CDO and BOC forms complexes with specific cadherins that mediate some of the promyogenic effects of cell-cell contact., [RefSeq, PubMed]; CDO is required for proliferation and survival of lung cancer cells via Hh signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Cdon suppresses vascular smooth muscle calcification via repression of the Wnt/Runx2 Axis., [RefSeq, PubMed]; Compound heterozygous splicing CDON variants result in isolated ocular coloboma., [RefSeq, PubMed]; Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population., [RefSeq, PubMed]; Targeted inactivation of Cdon in the mouse results in mild holoprosencephaly, suggesting a link to signaling pathways that control midline development such as the Sonic hedgehog pathway., [RefSeq, PubMed]; This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]., [RefSeq]; Together with BOC, forms a coreceptor required for sonic hedgehog (SHH) handoff to its patched receptor (PTCH1 or PTCH2), thereby allowing activation of the smoothened signaling pathway (By similarity). Binds to the dually lipid-modified Sonic hedgehog protein N-product (ShhN) downstream of SCUBE2 carrier and promotes its release to GAS1 (By similarity). ShhN is then directly transferred to patched receptor by GAS1 (By similarity). May also mediate cell-cell interactions between muscle precursor cells, promoting differentiation of myogenic cells (By similarity)., [UniProtKB, UniProtKB]; We identified a novel heterozygous nonsense CDON mutation in a case of Pituitary Stalk Interruption Syndrome who presented with neonatal hypoglycemia and cholestasis, [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 54, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "O14631", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0098609 cell-cell adhesion;GO:0007224 smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q4KMG0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02817-1", "uniprot_id": [ { "id": "MUC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02817", "type": "external" } ], "mass": 550850.0, "length": 5289, "protein_name": "Mucin-2", "gene_name": "MUC2", "organism": "Human", "refseq_name": "mucin-2 precursor", "refseq_ac": [ { "id": "NP_002448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002448", "type": "external" } ], "gene_names_uniprotkb": "MUC2; SMUC", "gene_names_refseq": "MLP; MUC-2; MUC2; SMUC", "protein_names_uniprotkb": "Mucin-2; Intestinal mucin-2; MUC-2", "protein_names_refseq": "mucin 2, intestinal/tracheal; mucin-2 precursor", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); pre-malignant neoplasm (Disease Ontology:DOID:0060071); colitis (Disease Ontology:DOID:0060180); mucositis (Disease Ontology:DOID:0080178); allergic conjunctivitis (Disease Ontology:DOID:11204); primary biliary cholangitis (Disease Ontology:DOID:12236); cystic fibrosis (Disease Ontology:DOID:1485); cystitis (Disease Ontology:DOID:1679); colon cancer (Disease Ontology:DOID:219); asthma (Disease Ontology:DOID:2841); mucinous adenocarcinoma (Disease Ontology:DOID:3030); ischemia (Disease Ontology:DOID:326); cholangiocarcinoma (Disease Ontology:DOID:4947); liver cirrhosis (Disease Ontology:DOID:5082); intestinal disease (Disease Ontology:DOID:5295); pneumonia (Disease Ontology:DOID:552); ulcerative colitis (Disease Ontology:DOID:8577); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); Barrett's esophagus (Disease Ontology:DOID:9206)", "pathway": " (hsa:4583); (R-HSA-5083625); (R-HSA-5083632); (R-HSA-5083636); (R-HSA-5621480); (R-HSA-913709); (R-HSA-977068)", "pathway_count": 7, "publication_count": 85, "publication_id_list": "10330415;10430883;10504389;10742600;10753916;11042166;11062056;11110698;11237011;11283017;11304796;11445551;11606584;11821425;12374796;12464682;12582180;12855678;1329093;1400449;14656219;15466199;15486459;1550588;15560372;15599692;15620693;15687324;16151858;16251947;16319059;17050534;17058067;17113861;18327567;18490740;18537974;18669648;18776906;18818202;1885763;19359471;19432394;19617566;21880719;22041900;22183981;22461326;23053572;23090970;23507963;23602766;2373995;24190977;24643043;25153226;2703501;29786170;29789417;31154438;31310764;33031746;35377815;35494241;36206754;37686224;38423356;38500386;38733585;4008490;4066681;7655172;8300571;8333853;8598452;8611500;8920913;8972730;9042338;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene", "function": "Aberrant intestinal expression and allelic variant MUC2 is associated with inflammatory bowel disease., [RefSeq, PubMed]; An Increase in Mucin2 Expression Is Required for Colon Cancer Progression Mediated by L1. Publication Status: Online-Only, [RefSeq, PubMed]; Coats the epithelia of the intestines and other mucus membrane-containing organs to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces (PubMed:17058067, PubMed:19432394, PubMed:33031746). Major constituent of the colon mucus, which is mainly formed by large polymeric networks of MUC2 secreted by goblet cells that cover the exposed surfaces of intestine (PubMed:19432394, PubMed:33031746). MUC2 networks form hydrogels that guard the underlying epithelium from pathogens and other hazardous matter entering from the outside world, while permitting nutrient absorption and gas exchange (PubMed:33031746, PubMed:36206754). Acts as a divalent copper chaperone that protects intestinal cells from copper toxicity and facilitates nutritional copper unptake into cells (PubMed:36206754). Binds both Cu(2+) and its reduced form, Cu(1+), at two juxtaposed binding sites: Cu(2+), once reduced to Cu(1+) by vitamin C (ascorbate) or other dietary antioxidants, transits to the other binding site (PubMed:36206754). MUC2-bound Cu(1+) is protected from oxidation in aerobic environments, and can be released for nutritional delivery to cells (PubMed:36206754). Mucin gels store antimicrobial molecules that participate in innate immunity (PubMed:33031746). Mucin glycoproteins also house and feed the microbiome, lubricate tissue surfaces, and may facilitate the removal of contaminants and waste products from the body (PubMed:33031746). Goblet cells synthesize two forms of MUC2 mucin that differ in branched chain O-glycosylation and the site of production in the colon: a (1) 'thick' mucus that wraps the microbiota to form fecal pellets is produced in the proximal, ascending colon (By similarity). 'Thick' mucus transits along the descending colon and is lubricated by a (2) 'thin' MUC2 mucus produced in the distal colon which adheres to the 'thick' mucus (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; POFUT1 and PLAGL2 are characteristic markers of mucinous colorectal cancer associated with MUC2 expression., [RefSeq, PubMed]; REGgamma Mitigates Radiation-Induced Enteritis by Preserving Mucin Secretion and Sustaining Microbiome Homeostasis., [RefSeq, PubMed]; The structure of the second CysD domain of MUC2 and role in mucin organization by transglutaminase-based cross-linking., [RefSeq, PubMed]; This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]., [RefSeq]", "predicted_glycosites": 261, "predicted_n_glycosites": 15, "predicted_o_glycosites": 246, "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": 15, "reported_o_glycosites": 15, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 15, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 15, "total_o_glycosites": 16, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 33, "reported_phosphosites": 2, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 1888, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 55, "disease_count": 19, "glyco_site_count": 291, "binding_glycan_count": 0, "secondary_ac_list": "Q14878", "ec_number_list": [], "go_molecular_function": "GO:1903136 cuprous ion binding;GO:1903135 cupric ion binding;GO:0005201 extracellular matrix structural constituent;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0070701 mucus layer;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0070702 inner mucus layer", "go_biological_process": "GO:0030277 maintenance of gastrointestinal epithelium;GO:0070254 mucus secretion;GO:0010273 detoxification of copper ion;GO:0048874 host-mediated modulation of intestinal microbiota composition", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "Q02817-1", "record_type": "protein", "filter_code": "0000000.1100111.000100.000000000001000000.1100000011001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6JQN1-1", "uniprot_id": [ { "id": "ACD10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6JQN1", "type": "external" } ], "mass": 118834.0, "length": 1059, "protein_name": "Acyl-CoA dehydrogenase family member 10", "gene_name": "ACAD10", "organism": "Human", "refseq_name": "acyl-CoA dehydrogenase family member 10 isoform a", "refseq_ac": [ { "id": "NP_001130010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130010", "type": "external" } ], "gene_names_uniprotkb": "ACAD10", "gene_names_refseq": "ACAD10", "protein_names_uniprotkb": "Acyl-CoA dehydrogenase family member 10; 1.3.99.-; ACAD-10", "protein_names_refseq": "ACAD-10; acyl-CoA dehydrogenase family member 10 isoform a; acyl-Coenzyme A dehydrogenase family, member 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:80724); (R-HSA-77289)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "11237011;11696000;12882974;15560374;15638818;16423998;16934754;16940157;17762044;17953517;18268358;18950845;19170545;19531498;20338778;20390405;20470824;20877624;21237683;22465940;22586271;22871024;23700546;23901139;24080521;24732803;25002576;25418920;25576301;26290611;26992070;27397612;27600516;27846572;28218747;28228285;28510447;28832583;28904123;29242379;29437277;29493099;29557506;29632046;30315122;30379171;30410026;30429286;31844290;32157095;32357974;32488085;32938616;33141586;33298915;33301490;33592498;33633747;33717175;33912179;33968037;34828409;35051231;36010968;36241641;39894887;4721607;8241273", "class_list": "", "function": "A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences. Publication Status: Online-Only, [RefSeq, PubMed]; ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice. Publication Status: Online-Only, [RefSeq, PubMed]; Acyl-CoA dehydrogenase only active with R- and S-2-methyl-C15-CoA., [UniProtKB, PubMed]; CDNA ACAD10 maps to chromosome 12q24.1, [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]; Results propose that ACAD10 variation may increase type 2 diabetes susceptibility by impairing insulin sensitivity via abnormal lipid oxidation. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "G3XAJ0;Q8N828;Q8NAP2;Q96BX5", "ec_number_list": [ { "id": "1.3.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.99.-", "type": "external" } ], "go_molecular_function": "GO:0003995 acyl-CoA dehydrogenase activity;GO:0050660 flavin adenine dinucleotide binding;GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q6JQN1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2D8-1", "uniprot_id": [ { "id": "ADIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2D8", "type": "external" } ], "mass": 71236.0, "length": 614, "protein_name": "Afadin- and alpha-actinin-binding protein", "gene_name": "SSX2IP", "organism": "Human", "refseq_name": "afadin- and alpha-actinin-binding protein isoform 1", "refseq_ac": [ { "id": "NP_001159765", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159765", "type": "external" } ], "gene_names_uniprotkb": "SSX2IP; KIAA0923", "gene_names_refseq": "ADIP; SSX2IP; hMsd1", "protein_names_uniprotkb": "Afadin- and alpha-actinin-binding protein; ADIP; Afadin DIL domain-interacting protein; SSX2-interacting protein", "protein_names_refseq": "SSX2-interacting protein; afadin DIL domain-interacting protein; afadin- and alpha-actinin-binding protein isoform 1; afadin- and alpha-actinin-binding protein; synovial sarcoma, X breakpoint 2 interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:117178)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "11237011;12007189;16565220;17686061;18452278;18669648;19007248;19179477;19651622;19664994;19690332;19691289;20068231;23186163;23481700;23816619;23826132;24356449;25548167;25576301;25645385;26154972;26545777;26811146;26992070;27600516;27862975;27920218;28218747;28228285;28832583;29242379;29371260;29393594;29437277;29493099;29557506;30315122;30379171;30484775;30524438;31291378;31530632;31844290;32157095;32350084;32357974;32387766;32488085;32897882;32938616;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35406752;35561310;35658330;36010968;36215666;36241641", "class_list": "", "function": "Belongs to an adhesion system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). May connect the nectin-afadin and E-cadherin-catenin system through alpha-actinin and may be involved in organization of the actin cytoskeleton at AJs through afadin and alpha-actinin (By similarity). Involved in cell movement: localizes at the leading edge of moving cells in response to PDGF and is required for the formation of the leading edge and the promotion of cell movement, possibly via activation of Rac signaling (By similarity). Acts as a centrosome maturation factor, probably by maintaining the integrity of the pericentriolar material and proper microtubule nucleation at mitotic spindle poles. The function seems to implicate at least in part WRAP73; the SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome (PubMed:23816619, PubMed:26545777). Involved in ciliogenesis (PubMed:24356449). It is required for targeted recruitment of the BBSome, CEP290, RAB8, and SSTR3 to the cilia (PubMed:24356449)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; MiRNA-181b-5p Modulates Cell Proliferation, Cell Cycle, and Apoptosis by Targeting SSX2IP in Acute Lymphoblastic Leukemia, [RefSeq, PubMed]; Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear protein SS2IP interacts with cancer-related protein SSX2 and the human homologue of a Ras-like GTPase interactor, RABIN3., [RefSeq, PubMed]; This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [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, "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": 13, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8W0;B4DFE3;D3DT13;J3KR02;Q6P2P8;Q6ULS1;Q7L168;Q9UIX0", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005912 adherens junction;GO:0031252 cell leading edge;GO:0034451 centriolar satellite", "go_biological_process": "GO:0007155 cell adhesion;GO:0060271 cilium assembly;GO:0007098 centrosome cycle;GO:0035735 intraciliary transport involved in cilium assembly", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9Y2D8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07001-1", "uniprot_id": [ { "id": "ACHD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07001", "type": "external" } ], "mass": 58895.0, "length": 517, "protein_name": "Acetylcholine receptor subunit delta", "gene_name": "CHRND", "organism": "Human", "refseq_name": "acetylcholine receptor subunit delta isoform 1 precursor", "refseq_ac": [ { "id": "NP_000742", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000742", "type": "external" } ], "gene_names_uniprotkb": "CHRND; ACHRD", "gene_names_refseq": "ACHRD; CHRND; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS", "protein_names_uniprotkb": "Acetylcholine receptor subunit delta", "protein_names_refseq": "acetylcholine receptor subunit delta isoform 1 precursor; acetylcholine receptor subunit delta; acetylcholine receptor, nicotinic, delta (muscle); cholinergic receptor, nicotinic delta; cholinergic receptor, nicotinic, delta (muscle); cholinergic receptor, nicotinic, delta polypeptide", "tax_id": 9606, "disease": "contractures, pterygia, and spondylocarpotarsal fusion syndrome (Disease Ontology:DOID:0080110); congenital myasthenic syndrome 3C (Disease Ontology:DOID:0110664); congenital myasthenic syndrome 3B (Disease Ontology:DOID:0110665); congenital myasthenic syndrome 3A (Disease Ontology:DOID:0110666)", "pathway": " (hsa:1144); (R-HSA-629587)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "11237011;11435464;11782989;12499478;15609996;16916845;16959974;18252226;18398509;19059502;24240098;25080583;2564429;26698174;27375219;29557506;32335884;35051231;38087897;8872460;8987816", "class_list": "", "function": "After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane., [UniProtKB, PubMed, UniProtKB, UniProtKB]; CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case., [RefSeq, PubMed]; Child was diagnosed with slow-channel congenital myasthenic syndrome (SCCMS) type 3A caused by heterozygous variant of the CHRND gene Review article, [RefSeq, PubMed]; Data suggest mutation in invariant Cys-loop of CHRND (D140N) observed in muscle of one patient (11 y/o girl) with congenital myasthenia (w/ severe muscle weakness) alters conformation of ligand/acetylcholine binding site and receptor functionality., [RefSeq, PubMed]; The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]., [RefSeq]; These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits., [RefSeq, PubMed]; This study showed that a single mutation of the delta subunit, L332P, allows the synapse in slow muscles to function but renders those in fast muscles almost nonfunctional., [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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K661;B4DT92;Q52LH4", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015464 acetylcholine receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0042166 acetylcholine binding;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0031594 neuromuscular junction;GO:0045202 synapse;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0006936 muscle contraction;GO:0007165 signal transduction;GO:0048630 skeletal muscle tissue growth;GO:0050881 musculoskeletal movement", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q07001-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8T0-1", "uniprot_id": [ { "id": "AKTIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8T0", "type": "external" } ], "mass": 33128.0, "length": 292, "protein_name": "AKT-interacting protein", "gene_name": "AKTIP", "organism": "Human", "refseq_name": "AKT-interacting protein isoform 1", "refseq_ac": [ { "id": "NP_001012398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012398", "type": "external" } ], "gene_names_uniprotkb": "AKTIP; FTS", "gene_names_refseq": "AKTIP; FT1; FTS", "protein_names_uniprotkb": "AKT-interacting protein; Ft1; Fused toes protein homolog", "protein_names_refseq": "AKT-interacting protein isoform 1; fused toes homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:64400)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;14749367;18799622;21777610;22544926;23186163;23481700;24715725;25576301;25645385;25892735;26154972;26375851;26992070;27397612;27600516;27846572;28228285;28832583;28834231;28904123;29242379;29493099;29557506;29632711;29769354;29786170;30315122;30429286;30779550;31154438;31844290;31848261;31937595;32073997;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33968037;34087483;34171305;34185709;34509645;35051231;35561310;35580925;36010968;36096808;36516775;37938771;39236366", "class_list": "", "function": "AKTIP loss is enriched in ERalpha-positive breast cancer for tumorigenesis and confers endocrine resistance., [RefSeq, PubMed]; Combined alteration of lamin and nuclear morphology influences the localization of the tumor-associated factor AKTIP. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the FTS/Hook/FHIP complex (FHF complex) (PubMed:32073997). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enhancing phosphorylation and activation of AKT1. Increases release of TNFSF6 via the AKT1/GSK3B/NFATC1 signaling cascade. FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell (PubMed:32073997)., [UniProtKB, PubMed, PubMed, PubMed]; Ft1 protein interacts directly with PKB, enhancing the phosphorylation of both of its regulatory sites by promoting its interaction with the upstream kinase PDK1, [RefSeq, PubMed]; Higher levels of AKT-interacting protein in the frontal pole from people with schizophrenia are limited to a sub-group who have a marked deficit in cortical muscarinic M1 receptors., [RefSeq, PubMed]; The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [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, "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": 1, "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": "Q503B1;Q53H38", "ec_number_list": [], "go_molecular_function": "GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070695 FHF complex", "go_biological_process": "GO:0098840 protein transport along microtubule;GO:0001934 positive regulation of protein phosphorylation;GO:0032092 positive regulation of protein binding;GO:0006915 apoptotic process;GO:0007032 endosome organization", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9H8T0-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08670-1", "uniprot_id": [ { "id": "VIME_HUMAN", "url": "https://www.uniprot.org/uniprot/P08670", "type": "external" } ], "mass": 53652.0, "length": 466, "protein_name": "Vimentin", "gene_name": "VIM", "organism": "Human", "refseq_name": "vimentin", "refseq_ac": [ { "id": "NP_003371", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003371", "type": "external" } ], "gene_names_uniprotkb": "VIM", "gene_names_refseq": "VIM", "protein_names_uniprotkb": "Vimentin", "protein_names_refseq": "epididymis secretory sperm binding protein; vimentin", "tax_id": 9606, "disease": "cataract 30 (Disease Ontology:DOID:0110248); Alzheimer's disease (Disease Ontology:DOID:10652); Chagas disease (Disease Ontology:DOID:12140); Sjogren's syndrome (Disease Ontology:DOID:12894); Behcet's disease (Disease Ontology:DOID:13241); atherosclerosis (Disease Ontology:DOID:1936); nephrosis (Disease Ontology:DOID:2527); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); pulmonary hypertension (Disease Ontology:DOID:6432); rheumatoid arthritis (Disease Ontology:DOID:7148); varicose veins (Disease Ontology:DOID:799); hyperthyroidism (Disease Ontology:DOID:7998); systemic lupus erythematosus (Disease Ontology:DOID:9074); diabetes mellitus (Disease Ontology:DOID:9351)", "pathway": " (hsa:7431); (R-HSA-264870); (R-HSA-390522); (R-HSA-6785807); (R-HSA-9013422); (R-HSA-9613829); (R-HSA-9615710); (R-HSA-9646399); (R-HSA-9918481); (R-HSA-9918487); (R-HSA-9927432)", "pathway_count": 11, "publication_count": 447, "publication_id_list": 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"class_list": "", "function": "Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; PROTAC-mediated vimentin degradation promotes terminal erythroid differentiation of pluripotent stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a type III intermediate filament protein. Intermediate filaments, along with microtubules and actin microfilaments, make up the cytoskeleton. The encoded protein is responsible for maintaining cell shape and integrity of the cytoplasm, and stabilizing cytoskeletal interactions. This protein is involved in neuritogenesis and cholesterol transport and functions as an organizer of a number of other critical proteins involved in cell attachment, migration, and signaling. Bacterial and viral pathogens have been shown to attach to this protein on the host cell surface. Mutations in this gene are associated with congenital cataracts in human patients. [provided by RefSeq, Aug 2017]., [RefSeq]; Vimentin, inversely correlating with infiltration of CD8 + T lymphocytes, promotes nuclear translocation of PD-L1 in esophageal squamous cell carcinoma., [RefSeq, PubMed]; Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either laterally or terminally. Plays a role in cell directional movement, orientation, cell sheet organization and Golgi complex polarization at the cell migration front (By similarity). Protects SCRIB from proteasomal degradation and facilitates its localization to intermediate filaments in a cell contact-mediated manner (By similarity). May promote axon outgrowth and motor fiber repair via DSP-mediated recruitment to outgrowth tips (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 29, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 29, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 29, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 102, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 63, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 4, "disease_count": 15, "glyco_site_count": 31, "binding_glycan_count": 0, "secondary_ac_list": "B0YJC2;D3DRU4;Q15867;Q15868;Q15869;Q548L2;Q6LER9;Q8N850;Q96ML2;Q9NTM3", "ec_number_list": [], "go_molecular_function": "GO:1990254 keratin filament binding;GO:0060090 molecular adaptor activity;GO:0005200 structural constituent of cytoskeleton;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0043488 regulation of mRNA stability;GO:0071222 cellular response to lipopolysaccharide;GO:0032967 positive regulation of collagen biosynthetic process;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 48.3, "record_id": "P08670-1", "record_type": "protein", "filter_code": "0001000.1000111.100000.000000000001000000.1100010000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46736-1", "uniprot_id": [ { "id": "BRCC3_HUMAN", "url": "https://www.uniprot.org/uniprot/P46736", "type": "external" } ], "mass": 36072.0, "length": 316, "protein_name": "Lys-63-specific deubiquitinase BRCC36", "gene_name": "BRCC3", "organism": "Human", "refseq_name": "lys-63-specific deubiquitinase BRCC36 isoform 2", "refseq_ac": [ { "id": "NP_001018065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018065", "type": "external" } ], "gene_names_uniprotkb": "BRCC3; BRCC36; C6.1A; CXorf53", "gene_names_refseq": "BRCC36; BRCC3; C6.1A; CXorf53", "protein_names_uniprotkb": "Lys-63-specific deubiquitinase BRCC36; 3.4.19.-; BRCA1-A complex subunit BRCC36; BRCA1/BRCA2-containing complex subunit 36; BRCA1/BRCA2-containing complex subunit 3; BRISC complex subunit BRCC36", "protein_names_refseq": "BRCA1-A complex subunit BRCC36; BRCA1/BRCA2-containing complex subunit 36; BRISC complex subunit BRCC36; lys-63-specific deubiquitinase BRCC36 isoform 2; lys-63-specific deubiquitinase BRCC36", "tax_id": 9606, "disease": "", "pathway": " (hsa:79184); (R-HSA-5689901); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-69473)", "pathway_count": 6, "publication_count": 253, "publication_id_list": "10383417;10550055;10572166;10724175;10757784;10766245;10802669;10859164;10866324;10959836;10973490;11025670;11080452;11114888;11139606;11237011;11301010;11376695;11390408;11390642;11493912;11571274;11573085;11604075;11702069;11893489;11927591;11934988;11955432;12023295;12077346;12152085;12186630;12231622;12353037;12364621;12447390;12485996;12509254;12545175;12578958;12607003;12607005;12697768;12773400;12791985;12792649;12832489;12890688;12897153;12947387;1303175;14560035;14561766;14576433;14636569;15064416;15177042;15189136;15190204;15201865;15279782;15451442;15468306;15574327;15707391;15723659;16061182;16093244;16148040;16150728;16153896;16327781;16360315;16377563;16427009;16439204;16439205;16530042;16600297;16651405;16707425;16874298;16885023;16914548;17143545;17290226;17470781;17525332;17525340;17525341;17553757;17575048;17707232;17848578;17928296;17965729;18001824;18001825;18006705;18046455;18077395;18171670;18397950;18443292;18644861;18758443;18805091;18923075;18971343;19001859;19092802;19117993;19176521;19202061;19203578;19203579;19214193;19234442;19261746;19261748;19261749;19351884;19357644;19419957;19505854;19782031;20016603;20023648;20068231;20154705;20233725;20351172;20656690;21052091;21240188;21263215;21282113;21293379;21325134;21335604;21596366;21659603;21680713;21777809;22021381;22024395;22179609;22231403;22234877;22373579;22508508;22529269;22589545;22635276;22645359;22661229;22661230;22792074;22908299;22977173;22980979;23186163;23246432;23306437;23333306;23345434;23468639;23481700;23505375;23727112;24075985;24236237;24667604;24715725;25113031;25122754;25283148;25512557;25558984;25576301;25645385;25659039;25818648;25841101;26024233;26154972;26195665;26344097;26375851;26992070;27600516;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29786170;29789417;30315122;30379171;30410026;30524438;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32897882;32938616;32983136;33141586;33592498;33633747;33691108;33968037;33981976;34071949;34087483;34171305;34932366;35051231;35580925;36010968;36172813;36284347;38544474;38557054;39227917;7528217;8247530;8422676;8944023;9168116;9259561;9430729;9488723;9512523;9705271;9826654", "class_list": "", "function": "BRCC3 Regulation of ALK2 in Vascular Smooth Muscle Cells: Implication in Pulmonary Hypertension., [RefSeq, PubMed]; BRCC3 mediates inflammation and pyroptosis in cerebral ischemia/reperfusion injury by activating the NLRP6 inflammasome., [RefSeq, PubMed]; BRCC36 regulates beta-catenin ubiquitination to alleviate vascular calcification in chronic kidney disease. Publication Status: Online-Only, [RefSeq, PubMed]; Metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains (PubMed:19214193, PubMed:20656690, PubMed:24075985, PubMed:26344097). Does not have activity toward 'Lys-48'-linked polyubiquitin chains (PubMed:19214193, PubMed:20656690, PubMed:24075985, PubMed:26344097). Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs) (PubMed:14636569, PubMed:16707425, PubMed:17525341, PubMed:19202061, PubMed:19261746, PubMed:19261748, PubMed:19261749). In the BRCA1-A complex, it specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX, antagonizing the RNF8-dependent ubiquitination at double-strand breaks (DSBs) (PubMed:20656690). Catalytic subunit of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates (PubMed:20656690, PubMed:24075985, PubMed:26195665, PubMed:26344097). Mediates the specific 'Lys-63'-specific deubiquitination associated with the COP9 signalosome complex (CSN), via the interaction of the BRISC complex with the CSN complex (PubMed:19214193). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985, PubMed:26344097). Acts as a regulator of the NLRP3 inflammasome by mediating deubiquitination of NLRP3, leading to NLRP3 inflammasome assembly (By similarity). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). Deubiquitinates HDAC1 and PWWP2B leading to their stabilization (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the brca1-bard1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). Catalytic subunit of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates. Mediates the specific 'Lys-63'-specific deubiquitination associated with the COP9 signalosome complex (CSN), via the interaction of the BRISC complex with the CSN complex. The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1., [UniProtKB, UniProtKB]; Scaffold proteins not only participate in the regulation of BRCC36 activity but also determine its subcellular localization and cellular functions., [RefSeq, PubMed]; These data strongly suggest that BRCC3, a deubiquitinating enzyme that is part of the cellular BRCA1 and BRISC complexes, is an important player in angiogenesis and that BRCC3 loss-of-function mutations are associated with moyamoya angiopathy., [RefSeq, PubMed]; These findings demonstrate that BRCC3 is a novel effector of Raf-1, and implicate a role of BRCC3 in modulation of p-ERK, cell survival and proliferation., [RefSeq, PubMed]; This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011]., [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": 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": 5, "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": "A6QRF8;A6QRF9;A8MUX5;A8MWH0;A9Z1Y0;A9Z1Y5;B1B062;B4DQN7;Q16107;Q53YX5;Q9BTZ6", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.357", "type": "external" }, { "id": "3.4.19.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" } ], "go_molecular_function": "GO:0008237 metallopeptidase activity;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0046872 metal ion binding;GO:0030234 enzyme regulator activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:2000001 regulation of DNA damage checkpoint;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0051301 cell division;GO:0070536 protein K63-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 25.6, "record_id": "P46736-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49736-1", "uniprot_id": [ { "id": "MCM2_HUMAN", "url": "https://www.uniprot.org/uniprot/P49736", "type": "external" } ], "mass": 101896.0, "length": 904, "protein_name": "DNA replication licensing factor MCM2", "gene_name": "MCM2", "organism": "Human", "refseq_name": "DNA replication licensing factor MCM2", "refseq_ac": [ { "id": "NP_004517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004517", "type": "external" } ], "gene_names_uniprotkb": "MCM2; BM28; CCNL1; CDCL1; KIAA0030", "gene_names_refseq": "BM28; CCNL1; CDCL1; D3S3194; DFNA70; MCM2; MITOTIN; cdc19", "protein_names_uniprotkb": "DNA replication licensing factor MCM2; 3.6.4.12; Minichromosome maintenance protein 2 homolog; Nuclear protein BM28", "protein_names_refseq": "DNA replication licensing factor MCM2; cell devision cycle-like 1; cyclin-like 1; minichromosome maintenance deficient 2 (mitotin); minichromosome maintenance protein 2 homolog; nuclear protein BM28", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 70 (Disease Ontology:DOID:0110592); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:4171); (R-HSA-176187); (R-HSA-176974); (R-HSA-68867); (R-HSA-68949); (R-HSA-68962); (R-HSA-69052); (R-HSA-9825895)", "pathway_count": 8, "publication_count": 223, "publication_id_list": "10051570;10373362;10373557;10518787;10523313;10757793;10777662;10827953;10846177;10859164;10882098;10884341;11095689;11125146;11237011;11248027;11390642;11562349;11739726;11931757;12045100;12364596;12399544;12578958;12676583;12676925;12759351;12791985;12963847;14500360;14603323;14605214;14624239;14672932;15190204;15210935;15226314;15302935;15707391;15743907;15833913;16083285;16327781;16387653;16407120;16446360;16824194;16899510;16964243;17062569;17081983;17234884;17296731;17322306;17417653;17485488;17487921;17525332;17924679;18077418;18212344;18220336;18452278;18480045;18669648;18691976;18707149;18767875;19367720;19413330;19415658;19562805;19608861;19647517;19651622;19664994;19664995;19690332;19691289;19896182;20058876;20068231;20112406;20166139;20230923;21406692;22223895;22967762;23186163;23481700;23603117;23851460;24275569;24366607;24397554;24714562;24715725;24902048;25231993;25249630;25418920;25469497;25576301;25645385;25892735;26154972;26196677;26222030;26375851;26728094;26811146;26992070;27249176;27401717;27846572;27862975;27920218;28063628;28191891;28218747;28228285;28273463;28446606;28510447;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30069701;30315122;30379171;30395541;30410026;30484775;30524438;30779550;30833945;31154438;31217245;31530632;31630206;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32192191;32350084;32357974;32387766;32453425;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33592498;33633747;33691108;33717175;33857403;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34509645;34561969;34694004;34700328;34725712;34932366;35051231;35138101;35251023;35318648;35524559;35561310;35580925;35585232;35956952;36010968;36241641;36284347;36581221;36807739;37938771;38053378;38403459;38454443;38665916;38818892;40596516;8175912;8196638;8258304;8943031;9278511;9278512;9305914;9635433;9660782", "class_list": "", "function": "Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for the entry in S phase and for cell division. Plays a role in terminally differentiated hair cells development of the cochlea and induces cells apoptosis., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; KNTC1 knockdown inhibits the proliferation and migration of osteosarcoma cells by MCM2., [RefSeq, PubMed]; MCM2 is involved in subtyping and tamoxifen resistance of ERalpha-positive breast cancer by acting as the downstream factor of ERalpha., [RefSeq, PubMed]; MCM2 promotes the stemness of endometrial cancer cells via the Akt/beta-catenin pathway., [RefSeq, PubMed]; Regulation of cancer stem cells by CXCL1, a chemokine whose secretion is controlled by MCM2. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 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, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 40, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q14577;Q15023;Q8N2V1;Q969W7;Q96AE1;Q9BRM7", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "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": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003688 DNA replication origin binding;GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0005664 nuclear origin of replication recognition complex", "go_biological_process": "GO:0030174 regulation of DNA-templated DNA replication initiation;GO:0006915 apoptotic process;GO:0006260 DNA replication;GO:0006270 DNA replication initiation;GO:1902975 mitotic DNA replication initiation", "synthesized_glycan_count": 0, "hit_score": 22.9, "record_id": "P49736-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60241-1", "uniprot_id": [ { "id": "AGRB2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60241", "type": "external" } ], "mass": 172656.0, "length": 1585, "protein_name": "Adhesion G protein-coupled receptor B2", "gene_name": "ADGRB2", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor B2 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_001281264", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001281264", "type": "external" } ], "gene_names_uniprotkb": "ADGRB2; BAI2", "gene_names_refseq": "ADGRB2; BAI2", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor B2; Brain-specific angiogenesis inhibitor 2", "protein_names_refseq": "adhesion G protein-coupled receptor B2 isoform 1 preproprotein; brain-specific angiogenesis inhibitor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:576)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12218411;20367554;21787750;23481700;25326458;25713288;28891236;29557506;31844290;32157095;32161166;32357974;32938616;33298915;33968037;35051231;36010968;36215666;36284347;9533023", "class_list": "", "function": "BAI2 is a functional GPCR regulated by proteolytic processing and activates the NFAT pathway, [RefSeq, PubMed]; Involvement of BAI2 in the ischemia-induced brain angiogenesis, [RefSeq, PubMed]; Orphan G protein-coupled receptor involved in cell adhesion and probably in cell-cell interactions. Activates NFAT-signaling pathway, a transcription factor, via the G protein GNAZ (PubMed:20367554, PubMed:28891236). Involved in angiogenesis inhibition (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; These studies provide new insights into the signaling capabilities of the adhesion GPCR BAI2/ADGRB2 and shed light on how an apparent gain-of-function mutation to the receptor's C-terminus may lead to human disease., [RefSeq, PubMed]; This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (PMID:20367554). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]., [RefSeq]; This is the first study reporting BAI2 as an interaction partner of GIP., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 6, "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": 2, "reported_o_glycosites": 1, "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": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B9EGK9;Q5T6K0;Q8NGW8;Q96GZ9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007422 peripheral nervous system development;GO:0016525 negative regulation of angiogenesis;GO:0033173 calcineurin-NFAT signaling cascade", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "O60241-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IW35-1", "uniprot_id": [ { "id": "CEP97_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IW35", "type": "external" } ], "mass": 96981.0, "length": 865, "protein_name": "Centrosomal protein of 97 kDa", "gene_name": "CEP97", "organism": "Human", "refseq_name": "centrosomal protein of 97 kDa isoform 2", "refseq_ac": [ { "id": "NP_001290330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290330", "type": "external" } ], "gene_names_uniprotkb": "CEP97; LRRIQ2", "gene_names_refseq": "2810403B08Rik; CEP97; LRRIQ2", "protein_names_uniprotkb": "Centrosomal protein of 97 kDa; Cep97; Leucine-rich repeat and IQ domain-containing protein 2", "protein_names_refseq": "centrosomal protein of 97 kDa isoform 2; centrosomal protein of 97 kDa; leucine-rich repeat and IQ domain-containing protein 2; leucine-rich repeats and IQ motif containing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79598); (R-HSA-5620912); (R-HSA-9013424)", "pathway_count": 3, "publication_count": 107, "publication_id_list": "11237011;14521508;14654843;16357211;17355222;17525332;17574030;17646400;17719545;18037885;18669648;18694559;18801063;19004860;19081074;19369195;19460342;19940019;20068231;20230748;20308558;20399632;20558667;21273506;21422230;21548880;21565611;21620453;21725307;21792235;22179047;22261722;22339630;22433857;22653444;23141531;23141541;23186163;23253480;23301498;23348840;23400999;23481700;23530209;23747070;23769972;23789104;24053599;24089205;24231678;24421332;24469809;24715725;24982133;25047611;25313408;25505266;25576301;26154972;26758079;26992070;27846572;27920218;28218747;28510447;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29557506;30315122;30375385;30404837;30410026;30524438;31217245;31844290;31871319;32157095;32350084;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33968037;33981976;34171305;34211107;34509645;34932366;35051231;35318648;36010968;36241641;40914422;9778532", "class_list": "", "function": "Acts as a key negative regulator of ciliogenesis in collaboration with CCP110 by capping the mother centriole thereby preventing cilia formation. Required for recruitment of CCP110 to the centrosome., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Identified the cullin-3-RBX1-KCTD10 complex as the E3 ligase that mediates CEP97 degradation and removal from the mother centriole 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, "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": 14, "reported_mutagensis": 3, "reported_glycation": 0, "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": "B5MDY8;Q8NA71;Q9H5T9", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0030620 U2 snRNA binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005814 centriole;GO:0032991 protein-containing complex;GO:0005634 nucleus", "go_biological_process": "GO:1902018 negative regulation of cilium assembly;GO:0030030 cell projection organization;GO:1901673 regulation of mitotic spindle assembly;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q8IW35-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C005-1", "uniprot_id": [ { "id": "DPY30_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C005", "type": "external" } ], "mass": 11250.0, "length": 99, "protein_name": "Protein dpy-30 homolog", "gene_name": "DPY30", "organism": "Human", "refseq_name": "protein dpy-30 homolog isoform 1", "refseq_ac": [ { "id": "NP_001308138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308138", "type": "external" } ], "gene_names_uniprotkb": "DPY30", "gene_names_refseq": "Cps25; DPY30; HDPY-30; Saf19", "protein_names_uniprotkb": "Protein dpy-30 homolog; Dpy-30-like protein; Dpy-30L", "protein_names_refseq": "dpy-30-like protein; dpy-30L; protein dpy-30 homolog isoform 1; protein dpy-30 homolog", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:84661); (R-HSA-201722); (R-HSA-3214841); (R-HSA-3769402); (R-HSA-5617472); (R-HSA-8936459); (R-HSA-9772755); (R-HSA-9818564); (R-HSA-9841922); (R-HSA-9909649); (R-HSA-9944997); (R-HSA-9976102)", "pathway_count": 12, "publication_count": 296, "publication_id_list": "10080941;10425206;10485845;10549281;10558993;10617663;10769018;10775268;10777502;10831834;10835357;10882139;10898789;10921920;10944533;10949293;11027271;11050151;11080158;11136974;11532957;11691915;11713476;11934263;11955446;11959841;11973335;11988739;12123582;12130538;12163411;12393701;12408824;12408825;12453418;12482972;12483298;12540855;12576332;12670868;12712206;12829629;1310260;14536086;14600025;14636557;14685266;14690610;14695187;14992727;15060161;15121853;15132997;15145825;15199122;15235609;15294866;15327769;15525529;15768032;15829968;15867264;15964846;16005293;16079151;16118227;16169192;16199523;16227571;16239140;16292313;16380219;16510874;16519522;16549775;16628190;16630820;16682010;16756492;16805913;16829959;16878130;16892064;17021013;17052462;17185360;17218525;17355966;17412698;17425782;17428788;17428831;17458864;17500065;17544230;1756725;17612494;17660710;17671196;17698607;17707229;17713478;17761849;17761950;17851529;17875931;17925232;17998332;18160704;18172012;18316480;18347063;18378692;18404694;18456656;18491316;18498752;18573912;18598779;18598942;18781158;18819930;18829457;18829459;18838386;18838538;19043829;19047045;19088198;19103755;19114653;19115252;19124460;19148484;19172745;19187761;19232136;19364920;19460168;19481096;19487454;19493659;19509293;19556245;19571879;19590513;19608861;19651892;19747919;1975088;19782034;19808676;19854132;19928349;19940019;20018852;20085832;20339092;20575550;20716525;20876458;20961854;21106533;21124902;21129147;21131905;21131967;21135039;21196496;21220120;21252065;21335234;21654818;21725049;21726809;21779408;21832073;21872626;21993680;22099308;22186018;22190459;22266653;22304967;22327296;22569366;22617422;22652693;22665483;22705304;22777353;22879880;22939622;22982193;23219899;23481700;23508102;23534758;23630040;23995757;24174538;24244196;24275569;24291232;24312487;24368734;24586203;24680668;24714562;25101834;25135475;25561738;25593305;2570724;25913784;26010396;26154972;26324722;26886794;26992070;27563068;27698142;27760318;27920218;28182322;28398509;28904123;29138278;29242379;29632711;29897600;29937342;30107592;30385408;30429286;30833945;31217245;31400120;31485071;31530632;31544921;31611695;31844290;32157095;32183950;32387766;32502341;32860047;32897882;32938616;32983136;33298915;33329381;33592498;33657400;33717175;33912179;33968037;34012049;34019948;34087483;34509645;34933446;34985972;35033534;35051231;35190547;35439434;35561310;36215666;36241641;37324189;7488013;7501971;7831296;7906964;7908827;8521497;8521498;8674428;8756721;8757136;8759021;8955148;9065481;9118222;9171241;9218805;9272954;9482740;9488439;9490669;9744270;9751710;9819412;9843967", "class_list": "", "function": "As part of the MLL1/MLL complex, involved in the methylation of histone H3 at 'Lys-4', particularly trimethylation. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. May play some role in histone H3 acetylation. In a teratocarcinoma cell, plays a crucial role in retinoic acid-induced differentiation along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci. May also play an indirect or direct role in endosomal transport., [UniProtKB, PubMed, PubMed, PubMed]; DPY30 Promotes Proliferation and Cell Cycle Progression of Colorectal Cancer Cells via Mediating H3K4 Trimethylation. Publication Status: Online-Only, [RefSeq, PubMed]; Glioblastoma stem cells reprogram chromatin in vivo to generate selective therapeutic dependencies on DPY30 and phosphodiesterases., [RefSeq, PubMed]; HDPY-30 (dpy-30-like protein) binds ASH2L directly. The evolutionarily conserved hDPY-30, ASH2L, RBBP5 and WDR5 likely constitute a subcomplex that is shared by all human Set1-like HMT complexes., [RefSeq, PubMed]; Mechanism for DPY30 and ASH2L intrinsically disordered regions to modulate the MLL/SET1 activity on chromatin. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenitor cells. [provided by RefSeq, Mar 2016]., [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": 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": 0, "reported_glycation": 0, "reported_snv": 0, "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": "D6W578", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005794 Golgi apparatus;GO:0005802 trans-Golgi network;GO:0035097 histone methyltransferase complex", "go_biological_process": "GO:0016197 endosomal transport;GO:0045815 transcription initiation-coupled chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 29.9, "record_id": "Q9C005-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07890-1", "uniprot_id": [ { "id": "SOS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07890", "type": "external" } ], "mass": 152979.0, "length": 1332, "protein_name": "Son of sevenless homolog 2", "gene_name": "SOS2", "organism": "Human", "refseq_name": "son of sevenless homolog 2 isoform 1", "refseq_ac": [ { "id": "NP_008870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008870", "type": "external" } ], "gene_names_uniprotkb": "SOS2", "gene_names_refseq": "NS9; SOS-2; SOS2", "protein_names_uniprotkb": "Son of sevenless homolog 2; SOS-2", "protein_names_refseq": "guanine nucleotide releasing factor; son of sevenless homolog 2 isoform 1; son of sevenless homolog 2", "tax_id": 9606, "disease": "Noonan syndrome 9 (Disease Ontology:DOID:0060587)", "pathway": " (hsa:6655); (R-HSA-193648); (R-HSA-416482); (R-HSA-428540); (R-HSA-8983432); (R-HSA-9013149)", "pathway_count": 6, "publication_count": 302, "publication_id_list": "10232922;10358752;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10805734;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11283606;11294240;11313914;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11742120;11756498;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11961559;12071859;12093360;12096337;12097334;12101119;12123608;12195014;12221096;12351724;12432077;12433361;12433842;12515866;12531887;12546821;12547822;12623850;12650940;12665586;12857875;12877655;12923183;14512443;14514689;1464587;14673001;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15302923;15339924;15342493;15470142;15485661;15507211;15579468;15601624;15611138;15699075;15728722;15749160;15850391;15858067;15897194;15951850;16002401;16112081;16116428;16184169;16212495;16212621;16243036;16473593;16492808;16507994;16519628;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16923326;16968698;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17976533;18006505;18045877;18218625;18249095;18347018;18374420;18396277;18426980;18577758;18653540;18838382;19212140;19269969;19494238;19605563;19673492;19713215;19934221;20400958;20460433;20639119;20679435;20810653;21148482;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22661716;22734669;22970203;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24397554;24714562;24737791;24859002;24933155;24960694;25024229;25211221;25414122;25428919;25704760;25721503;25795300;25795793;25862245;26129894;26529257;26811146;26887924;26992070;27072905;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27806292;27862975;28114311;28196833;28228285;28649982;28832583;28834231;28904123;29089502;29242379;29358323;29382922;29393594;29493099;29557506;29632711;29786170;30007591;30315122;30410026;30429286;30853411;31844290;31871319;32157095;32203420;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34509645;35051231;35580925;36010968;37029817;37217939;37541260;38253038;7479768;7512369;7559638;7568001;7641685;7673236;7721814;7753201;7835339;7937899;8021274;8107774;8493579;8530383;8537347;8543060;8617235;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9126349;9305890;9308960;9438849;9490638;9497316;9520479;9582072;9659915;9670022;9792683;9796816;9822598;9843499;9988689", "class_list": "", "function": "Acts as guanine nucleotide exchange factor (GEF) for RAS proteins. Catalyzes the GDP-to-GTP exchange, resulting in an increase of the active GTP-bound form of HRAS (PubMed:20639119). Acts as a key modulator of PI3K-AKT signaling., [UniProtKB, PubMed]; Genetic variants of SOS2, MAP2K1 and RASGRF2 in the RAS pathway genes predict survival of HBV-related hepatocellular carcinoma patients., [RefSeq, PubMed]; This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]., [RefSeq]; We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies., [RefSeq, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "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": "B7ZKT6;D3DSB4;Q15503;Q17RN1", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007265 Ras protein signal transduction;GO:0008286 insulin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 30.6, "record_id": "Q07890-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15464-1", "uniprot_id": [ { "id": "SHB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15464", "type": "external" } ], "mass": 55042.0, "length": 509, "protein_name": "SH2 domain-containing adapter protein B", "gene_name": "SHB", "organism": "Human", "refseq_name": "SH2 domain-containing adapter protein B", "refseq_ac": [ { "id": "NP_003019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003019", "type": "external" } ], "gene_names_uniprotkb": "SHB", "gene_names_refseq": "SHB; bA3J10.2", "protein_names_uniprotkb": "SH2 domain-containing adapter protein B", "protein_names_refseq": "SH2 domain-containing adapter protein B; SHB (Src homology 2 domain containing) adaptor protein B; SHB adaptor protein (a Src homology 2 protein); Src homology 2 domain containing adaptor protein B", "tax_id": 9606, "disease": "", "pathway": " (hsa:6461); (R-HSA-4420097)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10037737;10075701;10207622;10395673;10488157;10677529;10692392;10744763;10749680;10828022;10837138;10964504;11007481;11278486;11695992;11696015;12084069;12134158;12181353;12200137;12214271;12215529;12391143;12464388;12520086;12660731;12810700;12820653;14724572;15026417;15247219;15308668;15688067;15695828;15919073;15951569;15962004;16336962;16760434;16966330;17030947;17199126;17237347;17293873;17389395;17686471;18220336;18578522;18669648;19230644;19267251;19413330;19651622;20068231;20658524;21445309;22327215;22689825;23186163;23216836;26489764;28982308;29194461;29331515;30410026;30833945;31848261;32060095;32157095;32161166;32357974;33592498;33968037;34171305;35051231;7509446;7537362;8302579;8617235;8806685;8986718;9099726;9182576;9393975;9398617;9472046;9484780;9751119", "class_list": "", "function": "Adapter protein which regulates several signal transduction cascades by linking activated receptors to downstream signaling components. May play a role in angiogenesis by regulating FGFR1, VEGFR2 and PDGFR signaling. May also play a role in T-cell antigen receptor/TCR signaling, interleukin-2 signaling, apoptosis and neuronal cells differentiation by mediating basic-FGF and NGF-induced signaling cascades. May also regulate IRS1 and IRS2 signaling in insulin-producing cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; It is concluded that tumor SHB gene expression relates to acute myeloid leukemia survival, [RefSeq, PubMed]; SHB plays a role in integrating adaptive responses to various stimuli by simultaneously modulating cellular responses in different cell-types. [review] Review article, [RefSeq, PubMed]; The Shb scaffold binds the Nck adaptor protein, p120 RasGAP, and Chimaerins and thereby facilitates heterotypic cell segregation by the receptor EphB2., [RefSeq, PubMed]; This article provides a resource for the available molecular tools that can be used in future research on Shb 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, "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": 13, "reported_mutagensis": 1, "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": "B9EGM0;D3DRQ5;Q504U5;Q5VUM8", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0030159 signaling receptor complex adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q15464-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAR2-1", "uniprot_id": [ { "id": "AGRL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAR2", "type": "external" } ], "mass": 161812.0, "length": 1447, "protein_name": "Adhesion G protein-coupled receptor L3", "gene_name": "ADGRL3", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor L3 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001309175", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309175", "type": "external" } ], "gene_names_uniprotkb": "ADGRL3; KIAA0768; LEC3; LPHN3", "gene_names_refseq": "ADGRL3; CIRL3; CL3; LEC3; LPHN3", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor L3; CIRL-3; Calcium-independent alpha-latrotoxin receptor 3; Latrophilin-3; Lectomedin-3", "protein_names_refseq": "adhesion G protein-coupled receptor L3 isoform 3 precursor; calcium-independent alpha-latrotoxin receptor 3; latrophilin homolog 3 (cow); latrophilin-3; lectomedin 3", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094)", "pathway": " (hsa:23284)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;21184580;23584533;25728924;25892735;26235030;29242379;29769354;30459171;31154438;31844290;32387766;32938750;33968037;34932366;35051231;35393556;35418682;35741042;36151371;37074911;37224017", "class_list": "", "function": "ADGRL3 genomic variation implicated in neurogenesis and ADHD links functional effects to the incretin polypeptide GIP. Publication Status: Online-Only, [RefSeq, PubMed]; Convergent selective signaling impairment exposes the pathogenicity of latrophilin-3 missense variants linked to inheritable ADHD susceptibility., [RefSeq, PubMed]; Orphan adhesion G protein-coupled receptor (aGPCR), which mediates synapse specificity (PubMed:35418682). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:35418682). ADGRL3 is coupled with different classes of G alpha proteins, such as G(12)/G(13), G(s), G(i) or G(q), depending on the context (PubMed:35418682). Coupling to G(12)/G(13) G proteins, which mediates the activation Rho small GTPases is the most efficient (PubMed:35418682). Following G protein-coupled receptor activation, associates with cell adhesion molecules that are expressed at the surface of adjacent cells to direct synapse specificity (PubMed:26235030). Specifically mediates the establishment of Schaffer-collateral synapses formed by CA3-region axons on CA1-region pyramidal neurons in the hippocampus (By similarity). Localizes to postsynaptic spines in excitatory synapses in the S.oriens and S.radiatum and interacts with presynaptic cell adhesion molecules FLRT3 and TENM2, promoting synapse formation (By similarity). Plays a role in the development of glutamatergic synapses in the cortex (By similarity). Important in determining the connectivity rates between the principal neurons in the cortex (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Orphan adhesion G protein-coupled receptor (aGPCR), which mediates synapse specificity. 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. Isoform 1 is specifically coupled to G(s) G proteins and mediates activation of adenylate cyclase activity. Following G protein-coupled receptor activation, undergoes liquid-liquid phase transition, associates with (1) cell adhesion molecules that are expressed at the surface of adjacent cells, as well as (2) PDZ-containing proteins, such as SHANK3 and DLG4, in the cytoplasm to direct synapse formation., [UniProtKB, UniProtKB]; Orphan adhesion G-protein coupled receptor (aGPCR), which mediates synapse specificity. 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. Isoform 1 is specifically coupled to G(s) G proteins and mediates activation of adenylate cyclase activity. Following G-protein coupled receptor activation, undergoes liquid-liquid phase transition, associates with (1) cell adhesion molecules that are expressed at the surface of adjacent cells, as well as (2) PDZ-containing proteins, such as SHANK3 and DLG4, in the cytoplasm to direct synapse formation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms., [RefSeq, PubMed]; This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. [provided by RefSeq, Jul 2008]., [RefSeq]; Thwarting of Lphn3 Functions in Cell Motility and Signaling by Cancer-Related GAIN Domain Somatic Mutations. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 1, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "E9PE04;O94867;Q9NWK5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005509 calcium ion binding;GO:0030246 carbohydrate binding;GO:0140693 molecular condensate scaffold activity;GO:0098631 cell adhesion mediator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:1904861 excitatory synapse assembly;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:0001764 neuron migration", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9HAR2-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47895-1", "uniprot_id": [ { "id": "AL1A3_HUMAN", "url": "https://www.uniprot.org/uniprot/P47895", "type": "external" } ], "mass": 56108.0, "length": 512, "protein_name": "Retinaldehyde dehydrogenase 3", "gene_name": "ALDH1A3", "organism": "Human", "refseq_name": "retinaldehyde dehydrogenase 3 isoform 1", "refseq_ac": [ { "id": "NP_000684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000684", "type": "external" } ], "gene_names_uniprotkb": "ALDH1A3; ALDH6", "gene_names_refseq": "ALDH1A3; ALDH1A6; ALDH6; MCOP8; RALDH3", "protein_names_uniprotkb": "Retinaldehyde dehydrogenase 3; 1.2.1.36; ALDH1A3; Aldehyde dehydrogenase 6; Aldehyde dehydrogenase family 1 member A3; RALDH-3; RalDH3", "protein_names_refseq": "acetaldehyde dehydrogenase 6; aldehyde dehydrogenase 6; retinaldehyde dehydrogenase 3 isoform 1; retinaldehyde dehydrogenase 3", "tax_id": 9606, "disease": "isolated microphthalmia 8 (Disease Ontology:DOID:0060841)", "pathway": " (hsa:220); (R-HSA-5365859); (R-HSA-9927418); (R-HSA-9927426); (R-HSA-9927432); (R-HSA-9938206)", "pathway_count": 6, "publication_count": 63, "publication_id_list": "10329026;10369264;10671200;10839978;11007799;11237011;11245473;12036956;12226107;12680773;14532297;14596915;18039331;18805086;1889753;19664994;19664995;20068231;20801113;21529158;21621639;21851338;22019272;23220587;23312594;23591992;23646827;23881059;24024553;24568872;24777706;25576301;25645385;27759097;2935875;29393594;29557506;29786170;3013304;31222486;31844290;31848261;32157095;32938616;33123756;33981976;35051231;35318648;35580925;36010968;36215666;36284347;36997679;37249063;37753740;37938771;37947601;39251846;7698756;8493914;9228021;9677409;9705317", "class_list": "", "function": "ALDH1A3 is the switch that determines the balance of ALDH[+] and CD24[-]CD44[+] cancer stem cells, EMT-MET, and glucose metabolism in breast cancer., [RefSeq, PubMed]; ALDH1A3 promotes invasion and metastasis in triple-negative breast cancer by regulating the plasminogen activation pathway., [RefSeq, PubMed]; Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (By similarity) (PubMed:27759097). High specificity for all-trans-retinal as substrate, can also accept acetaldehyde as substrate in vitro but with lower affinity (PubMed:27759097). Required for the biosynthesis of normal levels of retinoate in the embryonic ocular and nasal regions; a critical lipid in the embryonic development of the eye and the nasal region (By similarity)., [UniProtKB, UniProtKB, PubMed]; Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. Erratum:[Eur J Hum Genet. 2023 Oct;31(10):1196-1198. doi: 10.1038/s41431-023-01363-3. PMID: 37106145], [RefSeq, PubMed]; Enhanced Sensitivity to ALDH1A3-Dependent Ferroptosis in TMZ-Resistant Glioblastoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; METTL3-mediated ALDH m[6]A methylation regulates the malignant behavior of BMI1[+] HNSCC stem cells., [RefSeq, PubMed]; Play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation., [RefSeq, PubMed]; This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]., [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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6NT64", "ec_number_list": [ { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.2.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.19", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.4.24.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0001758 retinal dehydrogenase (NAD+) activity;GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity;GO:0070324 thyroid hormone binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0043584 nose development;GO:0051289 protein homotetramerization;GO:0006081 aldehyde metabolic process;GO:0042572 retinol metabolic process;GO:0042573 retinoic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P47895-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13905-1", "uniprot_id": [ { "id": "RPGF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13905", "type": "external" } ], "mass": 120548.0, "length": 1077, "protein_name": "Rap guanine nucleotide exchange factor 1", "gene_name": "RAPGEF1", "organism": "Human", "refseq_name": "rap guanine nucleotide exchange factor 1 isoform c", "refseq_ac": [ { "id": "NP_001291204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291204", "type": "external" } ], "gene_names_uniprotkb": "RAPGEF1; GRF2", "gene_names_refseq": "C3G; GRF2; RAPGEF1", "protein_names_uniprotkb": "Rap guanine nucleotide exchange factor 1; CRK SH3-binding GNRP; Guanine nucleotide-releasing factor 2; Protein C3G", "protein_names_refseq": "CRK SH3-binding GNRP; Rap guanine nucleotide exchange factor (GEF) 1; guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene); rap guanine nucleotide exchange factor 1 isoform c", "tax_id": 9606, "disease": "anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); mesangial proliferative glomerulonephritis (Disease Ontology:DOID:4783)", "pathway": " (hsa:2889); (R-HSA-170968); (R-HSA-186763); (R-HSA-8875555); (R-HSA-9013423); (R-HSA-9027284); (R-HSA-912631)", "pathway_count": 7, "publication_count": 165, "publication_id_list": "10.1101/2023.09.13.557529;10318861;10508235;10579907;10618392;10618718;10629055;10753869;10871282;11124936;11146548;11237011;11278445;11443118;11466412;11704860;11956649;12006644;12040181;12138161;12432078;12676795;12734187;12881521;1314164;1374684;1375321;1377053;1396585;14551197;14675773;15144186;15320955;1569084;16777452;16849525;16939974;17081983;17202354;17724123;17765681;18374639;18697831;18809728;18957052;19269969;19279408;19534724;19664994;19690332;20581864;21406692;21779496;21840392;21876762;22065583;22569528;23033978;23186163;23255595;23481700;24396067;24518591;2466336;24715725;2472219;25092874;25218447;25418920;25468936;25505266;25576301;25862245;25880248;25892735;26628301;26992070;27481945;27503831;27713499;27846572;27869121;27920218;28063628;28076410;28218747;28228285;28273099;28356423;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;30315122;30410026;30429286;30567575;31844290;31871319;32157095;32265295;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33450305;33717175;33834495;33912179;33968037;34171305;34211107;34509645;34932366;34947971;35051231;35580925;37635193;37938771;7512734;7537740;7539782;7685273;7691811;7692233;7806500;7935391;8387505;8388543;8400282;8443409;8626543;8647855;8649859;8657151;8662907;8677749;8940081;8995358;9162069;9182757;9200440;9209406;9252344;9259313;9484840;9488729;9525940;9546424;9560161;9590251;9739761", "class_list": "", "function": "Complex formation and reciprocal regulation between GSK3beta and C3G., [RefSeq, PubMed]; Experimental Characterization of the Interaction between the N-Terminal SH3 Domain of Crkl and C3G. Publication Status: Online-Only, [RefSeq, PubMed]; Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Involved in cell branching and adhesion mediated by BCAR1-CRK-RAPGEF1 signaling and activation of RAP1 (PubMed:12432078). Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Identification and functional validation of SRC and RAPGEF1 as new direct targets of miR-203, involved in regulation of epidermal homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Zebrafish modeling mimics developmental phenotype of patients with RAPGEF1 mutation., [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": 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": 0, "reported_phosphosites": 14, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 9704, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5JUE4;Q68DL3;Q8IV73", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0061028 establishment of endothelial barrier;GO:0032486 Rap protein signal transduction;GO:0007165 signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q13905-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56945-1", "uniprot_id": [ { "id": "BCAR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P56945", "type": "external" } ], "mass": 93372.0, "length": 870, "protein_name": "Breast cancer anti-estrogen resistance protein 1", "gene_name": "BCAR1", "organism": "Human", "refseq_name": "breast cancer anti-estrogen resistance protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001164185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164185", "type": "external" } ], "gene_names_uniprotkb": "BCAR1; CASS1; CAS; CRKAS", "gene_names_refseq": "BCAR1; CAS1; CASS1; CAS; CRKAS; P130Cas", "protein_names_uniprotkb": "Breast cancer anti-estrogen resistance protein 1; CRK-associated substrate; Cas scaffolding protein family member 1; p130cas", "protein_names_refseq": "BCAR1, Cas family scaffold protein; BCAR1, Cas family scaffolding protein; Cas scaffolding protein family member 1; Crk-associated substrate p130Cas; breast cancer anti-estrogen resistance protein 1 isoform 1; breast cancer anti-estrogen resistance protein 1", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); breast ductal carcinoma (Disease Ontology:DOID:3007)", "pathway": " (hsa:9564); (R-HSA-186763); (R-HSA-372708); (R-HSA-4420097); (R-HSA-8849471)", "pathway_count": 5, "publication_count": 171, "publication_id_list": "10037737;10075701;10207622;10395673;10502414;10508235;10542110;10579907;10587647;10639512;10677529;10692392;10744763;10749680;10777559;10889023;11007481;11019781;11158326;11237011;11278486;11604500;11695992;11696015;12119061;12134158;12214271;12215529;12391143;12432078;12464388;12585966;12601080;12640026;12660731;12787671;12810700;12820653;12832404;12972425;1314164;1374684;1375321;1396585;14724572;15026417;15247219;15308668;15572663;15688067;15695828;15784259;15962004;16212419;16247015;16308318;16336962;16581250;16760434;16959974;16964243;16966330;17016520;17030947;17038317;17081983;17174122;17199126;17237347;17293873;17389395;17686471;18669648;18829532;19086031;19147981;19230644;19267251;19454314;19901323;20068231;20534451;20658524;20798394;21406692;21445309;21937722;22081014;22084245;22327215;22689825;22710723;22801373;23109808;23186163;23216836;23443682;23481700;23874939;23974298;24497348;2466336;2472219;25576301;25645385;25727852;25860930;25892735;25938342;27293031;27846572;28007913;28808245;29557506;30639111;30833945;31217245;31222486;31844290;31848261;32157095;32387766;32502341;32938616;33042270;33592498;33912179;33968037;34087483;34171305;34357683;34509645;35051231;35580925;36010968;36241641;36375119;36400248;37938771;38253038;38665916;39894887;7509446;7685273;7691811;7692233;7935391;8388543;8443409;8617235;8621540;8647855;8649368;8657151;8940081;8986718;9020138;9099726;9182576;9219684;9302992;9360968;9360983;9393975;9398617;9407060;9472046;9484840;9488729;9546424;9739761", "class_list": "", "function": "BCAR1 has a pivotal role in the regulation of tissue homeostasis in pathological conditions such as cancer. (Review) Review article, [RefSeq, PubMed]; BTG1 inactivation drives lymphomagenesis and promotes lymphoma dissemination through activation of BCAR1., [RefSeq, PubMed]; Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion (PubMed:12432078, PubMed:12832404). Implicated in induction of cell migration and cell branching (PubMed:12432078, PubMed:12832404, PubMed:17038317). Involved in the BCAR3-mediated inhibition of TGFB signaling (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The interaction of CFLAR with p130Cas promotes cell migration., [RefSeq, PubMed]; The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer. [provided by RefSeq, Sep 2017]., [RefSeq]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 60, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KWD7;B4DEV4;B4DGB5;B4DIW5;B7Z7X7;E9PCL5;E9PCV2;F5GXA2;F5GXV6;F5H7Z0;F8WA69;Q6QEF7", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:0086100 endothelin receptor signaling pathway;GO:0007015 actin filament organization;GO:0007155 cell adhesion;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 17.5, "record_id": "P56945-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43307-1", "uniprot_id": [ { "id": "SSRA_HUMAN", "url": "https://www.uniprot.org/uniprot/P43307", "type": "external" } ], "mass": 32235.0, "length": 286, "protein_name": "Translocon-associated protein subunit alpha", "gene_name": "SSR1", "organism": "Human", "refseq_name": "translocon-associated protein subunit alpha isoform 2 precursor", "refseq_ac": [ { "id": "NP_001278937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278937", "type": "external" } ], "gene_names_uniprotkb": "SSR1; PSEC0262; TRAPA", "gene_names_refseq": "SSR1; TRAPA", "protein_names_uniprotkb": "Translocon-associated protein subunit alpha; SSR-alpha; Signal sequence receptor subunit alpha; TRAP-alpha", "protein_names_refseq": "SSR alpha subunit; SSR-alpha; TRAP alpha; signal sequence receptor subunit alpha; signal sequence receptor, alpha; translocon-associated protein alpha subunit; translocon-associated protein subunit alpha isoform 2 precursor; translocon-associated protein subunit alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:6745); (R-HSA-1799339); (R-HSA-381038)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "37268159;10.1101/2023.09.13.557529;10437777;10601334;10827079;11237011;11964406;12204115;12754519;12853463;15466936;1557127;16303743;16461360;16469117;16539657;17074750;17081983;18166647;18446792;18455985;18491316;18664523;18669648;18691976;19159218;19369195;19690332;20068231;20112406;20166139;20444697;21282569;22314232;23186163;24190977;24275569;24715725;25418920;25505266;25576301;25645385;26154972;26374642;26375851;26811146;26929215;26992070;27397612;27600516;27846572;27893789;28063628;28218747;28228285;28489076;28510447;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29632711;29741879;29786170;30315122;30410026;30429286;30779550;31092671;31154438;31844290;31848261;32157095;32265295;32350084;32387766;32488085;32897882;32938616;32983136;33000261;33043033;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34509645;35051231;35251023;35254053;35580925;35705054;36010968;36215666;36241641;36284347;36697828;37074911;37340703;37938771;38665916;39534244;40596516;40914422;41350704;7590364;8050590;8666242;9037597;9450183;9473480;9631292", "class_list": "", "function": "RP11156L14.1 regulates SSR1 expression by competitively binding to miR548ao3p in hypopharyngeal squamous cell carcinoma., [RefSeq, PubMed]; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 58, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A8K685;Q53GX2;Q53H19;Q5TAM3;Q6IB43;Q8NBH9;Q96IA2;Q9TNQ8;Q9UN49", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0006613 cotranslational protein targeting to membrane;GO:0031204 post-translational protein targeting to membrane, translocation", "synthesized_glycan_count": 0, "hit_score": 19.7, "record_id": "P43307-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P461-1", "uniprot_id": [ { "id": "ACSM6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P461", "type": "external" } ], "mass": 53585.0, "length": 480, "protein_name": "Acyl-coenzyme A synthetase ACSM6, mitochondrial", "gene_name": "ACSM6", "organism": "Human", "refseq_name": "acyl-coenzyme A synthetase ACSM6, mitochondrial precursor", "refseq_ac": [ { "id": "NP_997204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997204", "type": "external" } ], "gene_names_uniprotkb": "ACSM6; C10orf129", "gene_names_refseq": "ACSM6; C10orf129; bA310E22.3", "protein_names_uniprotkb": "Acyl-coenzyme A synthetase ACSM6, mitochondrial; 6.2.1.2; Acyl-CoA synthetase medium-chain family member 6", "protein_names_refseq": "AMP-binding enzyme; acyl-coenzyme A synthetase ACSM6, mitochondrial precursor; acyl-coenzyme A synthetase ACSM6, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:142827); (R-HSA-77352)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10231530;11237011;11470804;11772874;13295225;13295248;16385451;17278971;18192838;26992070;27351777;29393594;30524438;35051231;3597357;38253038;7907320;8687463", "class_list": "", "function": "Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism., [UniProtKB, UniProtKB]; 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, "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": 0, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4FU95;A4IF38;Q5VZX2;Q6ZTX1", "ec_number_list": [ { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.2", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "6.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.25", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0004321 fatty-acyl-CoA synthase activity;GO:0015645 fatty acid ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006637 acyl-CoA metabolic process;GO:0006633 fatty acid biosynthetic process;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q6P461-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2F3-1", "uniprot_id": [ { "id": "3BHS7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2F3", "type": "external" } ], "mass": 41016.0, "length": 369, "protein_name": "3 beta-hydroxysteroid dehydrogenase type 7", "gene_name": "HSD3B7", "organism": "Human", "refseq_name": "3 beta-hydroxysteroid dehydrogenase type 7 isoform b", "refseq_ac": [ { "id": "NP_001136249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136249", "type": "external" } ], "gene_names_uniprotkb": "HSD3B7", "gene_names_refseq": "CBAS1; HSD3B7; PFIC4; SDR11E3", "protein_names_uniprotkb": "3 beta-hydroxysteroid dehydrogenase type 7; 1.1.1.-; 1.1.1.181; 3 beta-hydroxysteroid dehydrogenase type VII; 3-beta-HSD VII; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; C(27) 3-beta-HSD; Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase", "protein_names_refseq": "3 beta-hydroxy-delta 5-C27-steroid oxidoreductase; 3 beta-hydroxysteroid dehydrogenase type 7 isoform b; 3 beta-hydroxysteroid dehydrogenase type 7; 3 beta-hydroxysteroid dehydrogenase type VII; 3-beta-HSD VII; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; C(27)-3BETA-HSD; c(27) 3-beta-HSD; cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase; short chain dehydrogenase/reductase family 11E, member 3", "tax_id": 9606, "disease": "congenital bile acid synthesis defect 1 (Disease Ontology:DOID:0111071); intrahepatic cholestasis (Disease Ontology:DOID:1852)", "pathway": " (hsa:80270); (R-HSA-193368); (R-HSA-193775); (R-HSA-193807)", "pathway_count": 4, "publication_count": 50, "publication_id_list": "10051404;10092594;10377398;10479480;10588945;10655068;10748047;10749848;11060344;11067870;11158055;11237011;11673457;11980911;12679481;1400444;14640697;1708392;2019602;2384150;26450365;26712441;26992070;27397612;27600516;27862975;28832583;29242379;29557506;29670816;29786170;30429286;31217245;31844290;32157095;32488085;32938616;32983136;34171305;34627351;3470305;35051231;35580925;7508385;7649182;8034703;8387517;8902629;8943006;9660774", "class_list": "glycogene", "function": "Expression of steroid sulfated transporters and 3beta-HSD activity in endometrium of polycystic ovary syndrome, [RefSeq, PubMed]; Genetic spectrum and clinical characteristics of 3beta-hydroxy-Delta(5)-C27-steroid oxidoreductase (HSD3B7) deficiency in China. Publication Status: Online-Only, [RefSeq, PubMed]; In the classical pathway, HSD3B7 catalyzes the second step of bile acid formation and its mutations may reduce the synthetic capability. Publication Status: Online-Only, [RefSeq, PubMed]; Novel Mutations in the 3beta-hydroxy-5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis., [RefSeq, PubMed]; The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 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, "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": 491, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96M28;Q9BSN9", "ec_number_list": [ { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.181", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.181", "type": "external" } ], "go_molecular_function": "GO:0003854 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity;GO:0047016 cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0005811 lipid droplet;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006699 bile acid biosynthetic process;GO:0035754 B cell chemotaxis;GO:0006694 steroid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9H2F3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46109-1", "uniprot_id": [ { "id": "CRKL_HUMAN", "url": "https://www.uniprot.org/uniprot/P46109", "type": "external" } ], "mass": 33777.0, "length": 303, "protein_name": "Crk-like protein", "gene_name": "CRKL", "organism": "Human", "refseq_name": "crk-like protein", "refseq_ac": [ { "id": "NP_005198", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005198", "type": "external" } ], "gene_names_uniprotkb": "CRKL", "gene_names_refseq": "CRKL", "protein_names_uniprotkb": "Crk-like protein", "protein_names_refseq": "crk-like protein; v-crk avian sarcoma virus CT10 oncogene homolog-like", "tax_id": 9606, "disease": "prostate carcinoma (Disease Ontology:DOID:10286); DiGeorge syndrome (Disease Ontology:DOID:11198); velocardiofacial syndrome (Disease Ontology:DOID:12583); colon carcinoma (Disease Ontology:DOID:1520); ovarian cancer (Disease Ontology:DOID:2394); invasive ductal carcinoma (Disease Ontology:DOID:3008); lung carcinoma (Disease Ontology:DOID:3905); skin cancer (Disease Ontology:DOID:4159); chronic myeloid leukemia (Disease Ontology:DOID:8552); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:1399); (R-HSA-170968); (R-HSA-186763); (R-HSA-8875555); (R-HSA-8875656); (R-HSA-9027284); (R-HSA-912631)", "pathway_count": 7, "publication_count": 150, "publication_id_list": "10022120;10508235;10579907;10618718;10629055;10753869;10871282;11124936;11146548;11278445;11443118;11466412;12006644;12040181;12138161;12393632;12676795;12881521;1314164;1374684;1375321;1377053;1396585;15345747;15592455;1569084;16849525;16939974;17016520;17202354;17389395;18374639;18669648;19004829;19279408;19690332;19901323;20068231;20230923;20670950;21664574;21779496;22065583;22569528;22581121;23301498;23318429;23691243;24518591;2466336;2472219;25092874;25468936;26992070;27078848;27503831;27846572;27862975;27920218;28076410;28218747;28228285;28832583;28904123;29242379;29317506;29331515;29393594;29557506;29632046;29632711;30315122;30429286;31530632;31611695;31844290;31848261;31998317;32119511;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33298915;33592498;33912179;33936100;33968037;34019948;34229054;34357683;34417497;34561969;34725712;34932366;35051231;35132862;35154160;35251023;35318648;35580925;35705054;36010968;38052858;38387229;38403027;38665916;38683131;39126118;40307207;40596516;7537740;7539782;7685273;7691811;7692233;7806500;7935391;8361759;8387505;8388543;8400282;8443409;8626543;8647855;8649859;8657151;8677749;8940081;8995358;9020138;9053848;9162069;9182757;9200440;9209406;9259313;9484840;9488729;9525940;9546424;9560161;9590251;9614078;9739761", "class_list": "", "function": "CRKL Enhances YAP Signaling through Binding and JNK/JUN Pathway Activation in Liver Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CRKL but not CRKII contributes to hemin-induced erythroid differentiation of CML., [RefSeq, PubMed]; CRKL dictates anti-PD-1 resistance by mediating tumor-associated neutrophil infiltration in hepatocellular carcinoma., [RefSeq, PubMed]; Cancer-associated fibroblast exosome LINC00355 promotes epithelial-mesenchymal transition and chemoresistance in colorectal cancer through the miR-34b-5p/CRKL axis., [RefSeq, PubMed]; Exploring the short linear motif-mediated protein-protein interactions of CrkL through ProP-PD., [RefSeq, PubMed]; May mediate the transduction of intracellular signals., [UniProtKB]; This gene encodes a protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic.[provided by RefSeq, Jan 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, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8KA44;D3DX35", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0030971 receptor tyrosine kinase binding", "go_cellular_component": "GO:0098890 extrinsic component of postsynaptic membrane;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0010629 negative regulation of gene expression;GO:0016477 cell migration;GO:0035556 intracellular signal transduction;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "P46109-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43524-1", "uniprot_id": [ { "id": "FOXO3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43524", "type": "external" } ], "mass": 71277.0, "length": 673, "protein_name": "Forkhead box protein O3", "gene_name": "FOXO3", "organism": "Human", "refseq_name": "forkhead box protein O3 isoform 1", "refseq_ac": [ { "id": "NP_001446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001446", "type": "external" } ], "gene_names_uniprotkb": "FOXO3; FKHRL1; FOXO3A", "gene_names_refseq": "AF6q21; FKHRL1P2; FKHRL1; FOXO2; FOXO3A; FOXO3", "protein_names_uniprotkb": "Forkhead box protein O3; AF6q21 protein; Forkhead in rhabdomyosarcoma-like 1", "protein_names_refseq": "FOXO3A-; forkhead box O3A; forkhead box protein O3 isoform 1; forkhead box protein O3; forkhead homolog (rhabdomyosarcoma) like 1; forkhead in rhabdomyosarcoma-like 1; forkhead, Drosophila, homolog of, in rhabdomyosarcoma-like 1", "tax_id": 9606, "disease": "familial adult myoclonic epilepsy 5 (Disease Ontology:DOID:0111691); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); Parkinson's disease (Disease Ontology:DOID:14330); endometrial adenocarcinoma (Disease Ontology:DOID:2870); high grade glioma (Disease Ontology:DOID:3070); temporal lobe epilepsy (Disease Ontology:DOID:3328); dermoid cyst of ovary (Disease Ontology:DOID:5117); T-cell adult acute lymphocytic leukemia (Disease Ontology:DOID:5602); rheumatoid arthritis (Disease Ontology:DOID:7148); lung disease (Disease Ontology:DOID:850); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2309); (R-HSA-1181150); (R-HSA-198693); (R-HSA-5674400); (R-HSA-5687128); (R-HSA-6785807); (R-HSA-8862803); (R-HSA-8952158); (R-HSA-9607240); (R-HSA-9614399); (R-HSA-9614657); (R-HSA-9615017); (R-HSA-9617629); (R-HSA-9617828); (R-HSA-9634638); (R-HSA-9841251)", "pathway_count": 16, "publication_count": 496, "publication_id_list": 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"class_list": "", "function": "CircRNA-PTPN4 mediated regulation of FOXO3 and ZO-1 expression: implications for blood-brain barrier integrity and cognitive function in uremic encephalopathy. Publication Status: Online-Only, [RefSeq, PubMed]; FOXO3a deregulation in uterine smooth muscle tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Variations in AMPK, FOXO3A, and POMC Increase the Risk of Extreme Obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Photobiomodulation Using 830 nm Lighting-Emitting Diode Inhibits Melanogenesis via FOXO3a in Human Melanocyte., [RefSeq, PubMed]; The role of transcription factor FOXA1/C2/M1/O3/P1/Q1 in breast cancer., [RefSeq, PubMed]; This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional activator that recognizes and binds to the DNA sequence 5'-[AG]TAAA[TC]A-3' and regulates different processes, such as apoptosis and autophagy (PubMed:10102273, PubMed:16751106, PubMed:21329882, PubMed:30513302). Acts as a positive regulator of autophagy in skeletal muscle: in starved cells, enters the nucleus following dephosphorylation and binds the promoters of autophagy genes, such as GABARAP1L, MAP1LC3B and ATG12, thereby activating their expression, resulting in proteolysis of skeletal muscle proteins (By similarity). Triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress (PubMed:10102273, PubMed:16751106). Participates in post-transcriptional regulation of MYC: following phosphorylation by MAPKAPK5, promotes induction of miR-34b and miR-34c expression, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent its translation (PubMed:21329882). In response to metabolic stress, translocates into the mitochondria where it promotes mtDNA transcription (PubMed:23283301). In response to metabolic stress, translocates into the mitochondria where it promotes mtDNA transcription. Also acts as a key regulator of chondrogenic commitment of skeletal progenitor cells in response to lipid availability: when lipids levels are low, translocates to the nucleus and promotes expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (By similarity). Also acts as a key regulator of regulatory T-cells (Treg) differentiation by activating expression of FOXP3 (PubMed:30513302)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "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": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 79, "reported_mutagensis": 26, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 12, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B4DVZ6;E1P5E6;O15171;Q5T2I7;Q9BZ04", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0019901 protein kinase binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:1901300 positive regulation of hydrogen peroxide-mediated programmed cell death;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006417 regulation of translation;GO:0042594 response to starvation", "synthesized_glycan_count": 0, "hit_score": 51.0, "record_id": "O43524-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100010001001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92985-1", "uniprot_id": [ { "id": "IRF7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92985", "type": "external" } ], "mass": 54278.0, "length": 503, "protein_name": "Interferon regulatory factor 7", "gene_name": "IRF7", "organism": "Human", "refseq_name": "interferon regulatory factor 7 isoform a", "refseq_ac": [ { "id": "NP_001563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001563", "type": "external" } ], "gene_names_uniprotkb": "IRF7", "gene_names_refseq": "IMD39; IRF-7H; IRF-7; IRF7A; IRF7B; IRF7C; IRF7H; IRF7", "protein_names_uniprotkb": "Interferon regulatory factor 7; IRF-7", "protein_names_refseq": "interferon regulatory factor 7 isoform a; interferon regulatory factor-7H", "tax_id": 9606, "disease": "immunodeficiency 39 (Disease Ontology:DOID:0111969)", "pathway": " (hsa:3665); (R-HSA-3134963); (R-HSA-877300); (R-HSA-9013973); (R-HSA-909733); (R-HSA-918233); (R-HSA-933541); (R-HSA-936964); (R-HSA-9705671); (R-HSA-975110)", "pathway_count": 10, "publication_count": 308, "publication_id_list": "10067896;10082512;10395669;10421793;10542297;10581243;10893229;10982844;10986460;11073981;11092454;11124948;11237011;11244049;11314014;11337497;11377645;11404376;11585831;11846980;11943871;11972023;12019269;12029096;12040185;12133833;12374802;12438563;12446674;12604599;12692549;12759408;12766484;12842042;12915721;1396683;14517278;14555995;14586410;14703513;14722222;14739303;14759258;14769151;15047845;1508672;15143187;15208624;15210742;15312780;15322115;15361868;15367631;15388922;15449939;15492225;15530433;15767370;15778442;16009940;16153868;16171819;16237089;16281057;16306936;16306937;16467876;16846591;16858409;16914100;16979567;16987978;17047224;17125875;17157040;17190786;17251292;17301153;1730654;17327220;17351669;17404045;17526488;17574024;17823124;17969444;18035202;18362138;18575461;18591661;18710948;18987133;19017798;19479062;19557165;19668221;19898473;20043992;20049431;20049711;20130243;20304997;20363976;20627800;20643137;20696886;21167755;21490621;21632562;21872626;21940674;2211721;22619329;22787218;22941947;23061660;23121362;23175366;23453971;23453972;23481700;24417533;24714562;24722368;25371710;25576301;25814066;25892735;25907537;26154972;26375851;26608321;26728094;26992070;27397612;27538435;27543614;27846572;27920218;28218747;28228285;28342865;28367002;28514659;28768858;28832583;28834231;28904123;29242379;29393594;29427864;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30429286;30485383;30598516;30779550;30833945;31154438;31217245;31844290;31848261;31850239;31998317;32032529;32113509;32157095;32161340;32353859;32387766;32428392;32488085;32502341;32511913;32574262;32589897;32661006;32726803;32728199;32758689;32862111;32897882;32938616;32953130;32972995;32979938;32983136;33024073;33060197;33097660;33110251;33117408;33123756;33141586;33189161;33193462;33239784;33298915;33349665;33360543;33372174;33372854;33396578;33396605;33440148;33479219;33495715;33514628;33567255;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33989516;33990585;34021074;34054808;34078123;34084167;34110168;34166398;34171305;34211107;34239064;34290717;34341353;34375313;34389779;34400613;34439781;34452305;34471099;34502139;34509645;34561969;34597346;34932366;35051231;35102342;35580925;35643212;35792897;36241641;36936901;37051252;37251373;37638030;38508315;39118300;6162102;6548414;688397;7510216;7514165;7526154;7530745;7537377;7540766;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8197134;8232552;8483949;8530158;8550631;8605876;8621447;8631301;8702790;9096384;9111318;9121453;9143706;9242679;9315633;9334213;9463386;9541017;9566918;9660177;9660935;9786932;9822609;9847332;9861020", "class_list": "", "function": "IRF7: role and regulation in immunity and autoimmunity. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Interferon regulatory factor 7 in inflammation, cancer and infection. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Key transcriptional regulator of type I interferon (IFN)-dependent immune responses and plays a critical role in the innate immune response against DNA and RNA viruses (PubMed:28342865, PubMed:28768858). Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters (PubMed:17574024, PubMed:32972995). Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction via both the virus-activated, MyD88-independent pathway and the TLR-activated, MyD88-dependent pathway. Induces transcription of ubiquitin hydrolase USP25 mRNA in response to lipopolysaccharide (LPS) or viral infection in a type I IFN-dependent manner (By similarity). Required during both the early and late phases of the IFN gene induction but is more critical for the late than for the early phase. Exists in an inactive form in the cytoplasm of uninfected cells and following viral infection, double-stranded RNA (dsRNA), or toll-like receptor (TLR) signaling, becomes phosphorylated by IKBKE and TBK1 kinases. This induces a conformational change, leading to its dimerization and nuclear localization where along with other coactivators it can activate transcription of the type I IFN and ISG genes. Can also play a role in regulating adaptive immune responses by inducing PSMB9/LMP2 expression, either directly or through induction of IRF1. Binds to the Q promoter (Qp) of EBV nuclear antigen 1 a (EBNA1) and may play a role in the regulation of EBV latency. Can activate distinct gene expression programs in macrophages and regulate the anti-tumor properties of primary macrophages (By similarity) (PubMed:11073981, PubMed:12374802, PubMed:15361868, PubMed:17404045)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Non-transcriptional IRF7 interacts with NF-kappaB to inhibit viral inflammation., [RefSeq, PubMed]; Role of interferon regulatory factor 7 in corneal endothelial cells after HSV-1 infection. Publication Status: Online-Only, [RefSeq, PubMed]; Single-cell sequencing combined with spatial transcriptomics reveals that the IRF7 gene in M1 macrophages inhibits the occurrence of pancreatic cancer by regulating lipid metabolism-related mechanisms., [RefSeq, PubMed]; This gene encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. It has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. The encoded protein plays an important role in the innate immune response against DNA and RNA viruses. [provided by RefSeq, Jul 2021]., [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": 12, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B9EGL3;O00331;O00332;O00333;O75924;Q9UE79", "ec_number_list": [], "go_molecular_function": "GO:0003677 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:1990837 sequence-specific double-stranded DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0010008 endosome membrane", "go_biological_process": "GO:0032727 positive regulation of interferon-alpha production;GO:0019043 establishment of viral latency;GO:0034124 regulation of MyD88-dependent toll-like receptor signaling pathway;GO:0034127 regulation of MyD88-independent toll-like receptor signaling pathway;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 31.1, "record_id": "Q92985-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16471-1", "uniprot_id": [ { "id": "PRLR_HUMAN", "url": "https://www.uniprot.org/uniprot/P16471", "type": "external" } ], "mass": 69506.0, "length": 622, "protein_name": "Prolactin receptor", "gene_name": "PRLR", "organism": "Human", "refseq_name": "prolactin receptor isoform 1 precursor", "refseq_ac": [ { "id": "NP_000940", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000940", "type": "external" } ], "gene_names_uniprotkb": "PRLR", "gene_names_refseq": "HPRL; MFAB; PRLR; RI-PRLR; hPRLrI", "protein_names_uniprotkb": "Prolactin receptor; PRL-R", "protein_names_refseq": "hPRL receptor; prolactin receptor isoform 1 precursor; secreted prolactin binding protein", "tax_id": 9606, "disease": "familial medullary thyroid carcinoma (Disease Ontology:DOID:0050547); hyperprolactinemia (Disease Ontology:DOID:12700); multiple fibroadenoma of the breast (MONDO:MONDO:0014249); familial hyperprolactinemia (MONDO:MONDO:0014250)", "pathway": " (hsa:5618); (R-HSA-1170546); (R-HSA-982772)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10084611;10585417;11237011;11518703;12351696;12580759;12819209;12907755;15082796;1549776;15618286;15767667;16278670;16546209;16740656;16840534;17675186;18252943;18316598;18467331;18488018;18779591;19276348;1948064;19927328;20032052;20053995;22606260;22649370;24195502;2558309;2825030;29242379;31092671;31844290;32938616;3349036;35051231;35154160;36744975;37232489;37993904;38713636;7691587;7768908;7984244;8188682;8343952;9030599;9058373;9626554", "class_list": "", "function": "Given its apparent widespread expression, this PRLr isoform may contribute to PRL action., [RefSeq, PubMed]; The Human Intermediate Prolactin Receptor I-tail Contributes Breast Oncogenesis by Targeting Ras/MAPK Pathway., [RefSeq, PubMed]; The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; The prolactin receptor scaffolds Janus kinase 2 via co-structure formation with phosphoinositide-4,5-bisphosphate. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]., [RefSeq]; This is a receptor for the anterior pituitary hormone prolactin (PRL). Acts as a prosurvival factor for spermatozoa by inhibiting sperm capacitation through suppression of SRC kinase activation and stimulation of AKT. Isoform 4 is unable to transduce prolactin signaling. Isoform 6 is unable to transduce prolactin signaling., [UniProtKB, PubMed, PubMed]; [Prolactin and its receptor: From animal models to pituitary pathophysiology]., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R882;D1MDP1;Q16354;Q8TD75;Q8TD78;Q96P35;Q96P36;Q9BX87;Q9UHJ5", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0008289 lipid binding;GO:0017046 peptide hormone binding;GO:0019955 cytokine binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031904 endosome lumen;GO:0043235 receptor complex", "go_biological_process": "GO:0007171 activation of transmembrane receptor protein tyrosine kinase activity;GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0030890 positive regulation of B cell proliferation;GO:0006694 steroid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P16471-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99598-1", "uniprot_id": [ { "id": "TSNAX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99598", "type": "external" } ], "mass": 33112.0, "length": 290, "protein_name": "Translin-associated protein X", "gene_name": "TSNAX", "organism": "Human", "refseq_name": "translin-associated protein X", "refseq_ac": [ { "id": "NP_005990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005990", "type": "external" } ], "gene_names_uniprotkb": "TSNAX; TRAX", "gene_names_refseq": "C3PO; TRAX; TSNAX", "protein_names_uniprotkb": "Translin-associated protein X; Translin-associated factor X", "protein_names_refseq": "translin-associated protein X; translin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7257); (R-HSA-426486)", "pathway_count": 2, "publication_count": 113, "publication_id_list": "11201747;11237011;11801738;12036294;12411504;12411505;15284456;15561718;15919079;15973356;16142218;16271386;16357216;16424907;17322306;17452327;17531811;17932509;18178619;18669648;18767875;18782830;18842624;19401777;19413330;19608861;19651622;19664994;19966796;20068231;20184375;20230923;20972213;21552258;21726814;22106413;22163034;22424782;23063653;23251028;23481700;23511973;23658827;23661684;24714562;24715725;25576301;25645385;25793518;25802875;26154972;26768311;26992070;27600516;27920218;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;30484775;30833945;31020640;31154438;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34357683;34509645;34932366;35008409;35051231;35154160;35251023;35318648;35561310;35580925;35997316;36215666;36241641;36284347;36517806;37030547;37938771;40914422;9013868", "class_list": "", "function": "Acts in combination with TSN as an endonuclease involved in the activation of the RNA-induced silencing complex (RISC). Possible role in spermatogenesis., [UniProtKB, PubMed, PubMed]; Conformational alteration in glycan induces phospholipase Cbeta1 activation and angiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; TRAX Provides Neuroprotection for Huntington's Disease Via Modulating a Novel Subset of MicroRNAs., [RefSeq, PubMed]; The associations between cognitive functions and TSNAX genetic variations in patients with schizophrenia., [RefSeq, PubMed]; This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. [provided by RefSeq, Jul 2008]., [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": 0, "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": "B1APC6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0044877 protein-containing complex binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0035194 regulatory ncRNA-mediated post-transcriptional gene silencing;GO:0030422 siRNA processing", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q99598-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RL1-1", "uniprot_id": [ { "id": "UIMC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RL1", "type": "external" } ], "mass": 79727.0, "length": 719, "protein_name": "BRCA1-A complex subunit RAP80", "gene_name": "UIMC1", "organism": "Human", "refseq_name": "BRCA1-A complex subunit RAP80 isoform 1", "refseq_ac": [ { "id": "NP_001186226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186226", "type": "external" } ], "gene_names_uniprotkb": "UIMC1; RAP80; RXRIP110", "gene_names_refseq": "RAP80; UIMC1; X2HRIP110", "protein_names_uniprotkb": "BRCA1-A complex subunit RAP80; Receptor-associated protein 80; Retinoid X receptor-interacting protein 110; Ubiquitin interaction motif-containing protein 1", "protein_names_refseq": "BRCA1-A complex subunit RAP80 isoform 1; BRCA1-A complex subunit RAP80; receptor-associated protein 80; retinoid X receptor-interacting protein 110", "tax_id": 9606, "disease": "", "pathway": " (hsa:51720); (R-HSA-5689901); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-69473)", "pathway_count": 6, "publication_count": 245, "publication_id_list": "10383417;10550055;10572166;10724175;10757784;10766245;10802669;10859164;10866324;10959836;10973490;11025670;11080452;11114888;11139606;11237011;11301010;11376695;11390408;11390642;11493912;11571274;11573085;11604075;11702069;11893489;11927591;11934988;11955432;12023295;12077346;12080054;12152085;12186630;12231622;12353037;12364621;12447390;12485996;12509254;12545175;12578958;12607003;12607005;12697768;12773400;12791985;12792649;12832489;12890688;12897153;12947387;14560035;14561766;14576433;15064416;15177042;15189136;15190204;15201865;15279782;15302935;15451442;15468306;15574327;15707391;15723659;16061182;16093244;16148040;16150728;16153896;16327781;16360315;16377563;16427009;16439204;16439205;16530042;16600297;16651405;16874298;16885023;16914548;17081983;17290226;17311814;17322306;17470781;17525332;17525340;17525341;17525342;17553757;17562356;17575048;17621610;17643121;17643122;17698038;17707232;17848578;17928296;17965729;18001824;18001825;18006705;18046455;18077395;18171670;18397950;18443292;18452278;18519686;18644861;18669648;18695986;18758443;18805091;18923075;18971343;19001859;19015238;19092802;19117993;19176521;19202061;19203578;19203579;19234442;19261746;19261748;19261749;19328070;19351884;19357644;19419957;19505854;19651622;19664994;19664995;19690332;19782031;20016603;20023648;20068231;20154705;20233725;20351172;21052091;21240188;21263215;21282113;21293379;21325134;21335604;21406692;21659603;21680713;21777809;22021381;22024395;22179609;22231403;22234877;22373579;22508508;22529269;22589545;22635276;22661229;22661230;22742833;22792074;22908299;22977173;22980979;23186163;23246432;23264621;23306437;23333306;23345434;23468639;23505375;23727112;24075985;24236237;24627472;24667604;24715725;25113031;25122754;25218447;25512557;25558984;25576301;25659039;25755297;25772364;25818648;25841101;26781088;26992070;27920218;28228285;28832583;29242379;29396516;29557506;29632711;30429286;30779550;31844290;31848261;32157095;32387766;32488085;32502341;32938616;32983136;33141586;33392160;33592498;33936100;33968037;34087483;34509645;34561969;35051231;35108530;35580925;36172813;36215666;36241641;39172790;8422676;8944023;9168116;9259561;9430729;9488723;9512523;9705271;9826654", "class_list": "", "function": "A novel nuclear protein that interacts with the retinoid-related testis-associated receptor, [RefSeq, PubMed]; Abraxas and RAP80 were required for DNA damage resistance, G(2)-M checkpoint control, and DNA repair., [RefSeq, PubMed]; DOT1L-mediated RAP80 methylation promotes BRCA1 recruitment to elicit DNA repair., [RefSeq, PubMed]; Data support a model wherein ubiquitin chains at DNA damage sites are used as a targeting mechanism by specific BRCA1 complexes; RAP80 may represent a new class of DNA repair proteins that uses tandem UIM domains as part of its recruitment to DSBs, [RefSeq, PubMed]; RAP80 suppresses the vulnerability of R-loops during DNA double-strand break repair., [RefSeq, PubMed]; RAP80/UIMC1, the protein highly expressed in testis, was identified as a new cancer-associated antigen., [RefSeq, PubMed]; This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]; Ubiquitin-binding protein (PubMed:24627472). Specifically recognizes and binds 'Lys-63'-linked ubiquitin (PubMed:19328070, Ref.38). Plays a central role in the BRCA1-A complex by specifically binding 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity than 'Lys-63'-linked ubiquitin. May interact with monoubiquitinated histones H2A and H2B; the relevance of such results is however unclear in vivo. Does not bind Lys-48'-linked ubiquitin. May indirectly act as a transcriptional repressor by inhibiting the interaction of NR6A1 with the corepressor NCOR1., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 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": 20, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 1, "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": "A8MSA1;B3KMZ1;B4E3N2;Q5XKQ1;Q7Z3W7;Q8N5B9;Q9BZR1;Q9BZR5;Q9UHX7", "ec_number_list": [], "go_molecular_function": "GO:0061649 ubiquitin-modified histone reader activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042393 histone binding;GO:0070530 K63-linked polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0070531 BRCA1-A complex;GO:0035861 site of double-strand break", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0006302 double-strand break repair;GO:0010212 response to ionizing radiation;GO:0045739 positive regulation of DNA repair", "synthesized_glycan_count": 0, "hit_score": 24.6, "record_id": "Q96RL1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12979-1", "uniprot_id": [ { "id": "ABR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12979", "type": "external" } ], "mass": 97598.0, "length": 859, "protein_name": "Active breakpoint cluster region-related protein", "gene_name": "ABR", "organism": "Human", "refseq_name": "active breakpoint cluster region-related protein isoform b", "refseq_ac": [ { "id": "NP_001083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001083", "type": "external" } ], "gene_names_uniprotkb": "ABR", "gene_names_refseq": "ABR; MDB", "protein_names_uniprotkb": "Active breakpoint cluster region-related protein", "protein_names_refseq": "ABR, RhoGEF and GTPase activating protein; active BCR-related; active breakpoint cluster region-related protein isoform b; active breakpoint cluster region-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:29); (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-9013423)", "pathway_count": 10, "publication_count": 428, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10619026;10699171;10699464;10724160;10847683;10873388;10873802;10958683;11007481;11058585;11085924;11145705;11149925;11207612;11237011;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11742120;11756498;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11919634;11948177;11956649;11961559;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12195014;12221077;12221096;12351724;12432077;12433842;12464619;12473120;12515866;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14673001;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15169870;15260990;15302923;15304341;15339924;15342493;15470142;15485661;15507211;15542837;15579468;15601624;15611138;15699075;15728722;15749160;15814684;15850391;15858067;15866170;15897194;15944396;15951850;16002401;16081809;16112081;16116428;16184169;16212495;16217026;16243035;16243036;16467373;16473593;16492808;16507994;16519628;1660188;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;16968698;17060455;17064668;17077126;17116687;17145773;17158234;17196961;17198702;17214551;17244649;17269730;17562871;17583407;17599059;17698854;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18191593;18218625;18249095;18347018;18363964;18374420;18396277;18426980;18577758;18653540;18662984;18697831;18786931;18802007;18829452;18835169;18838382;18929667;19212140;19269969;19494238;19534724;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;20962234;21148482;21151158;21351730;21373644;21378159;21454492;21542010;21565175;21576392;21613211;21685891;21699497;21730051;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22661716;22673745;22734669;22790947;22911862;22970203;22992742;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23757206;23870057;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24623723;24714562;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25414122;25425145;25428919;25576301;25673874;25704760;25721503;25795300;25862245;2587217;25892735;25963737;26016997;26129894;26299518;26371245;26375851;26529257;26598554;26628301;26728094;26887924;26992070;27072905;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;27986909;28028151;28112683;28114311;28196833;28356423;28579391;28584191;28825699;28860633;28904123;29089502;29146911;29358323;29382922;29437277;29493099;29557506;30007591;30061681;30315122;30410026;30853411;31105010;31154438;31217245;31389670;31516309;31530632;31844290;31848261;31871319;32157095;32203420;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33717175;33912179;33936100;33968037;34185709;34357683;34405274;34509645;34561969;34932366;35051231;35580925;36010968;36241641;37938771;38253038;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7937899;8021274;8107774;8262969;8349582;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9252344;9268338;9305890;9308960;9405671;9418861;9438849;9490638;9497316;9520479;9535835;9548756;9582072;9659915;9670022;9705280;9792683;9796816;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "ABR depletion leads to G2/M accumulation in human embryonic stem cells. Centrosome dynamics and mitotic fidelity are compromised upon ABR depletion. When mitosis progresses without ABR, human embryonic stem cells show a high incidence of aneuploidy., [RefSeq, PubMed]; Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:17116687, PubMed:7479768). The central Dbl homology (DH) domain functions as a guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form (PubMed:7479768). Functions as an important negative regulator of neuronal RAC1 activity (By similarity). Regulates macrophage functions such as CSF-1 directed motility and phagocytosis through the modulation of RAC1 activity (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The knockdown of GULP1 and ABR using siRNAs decreased phagocytosis by 40%. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]., [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": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KW89;B7Z6H7;D3DTH3;D3DTH4;F5H3S2;F5H8B3;Q13693;Q13694", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0004674 protein serine/threonine kinase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0016020 membrane;GO:0030424 axon;GO:0043197 dendritic spine", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0050804 modulation of chemical synaptic transmission;GO:0090630 activation of GTPase activity;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 43.1, "record_id": "Q12979-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15027-1", "uniprot_id": [ { "id": "ACAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15027", "type": "external" } ], "mass": 81536.0, "length": 740, "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1", "gene_name": "ACAP1", "organism": "Human", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1", "refseq_ac": [ { "id": "NP_055531", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055531", "type": "external" } ], "gene_names_uniprotkb": "ACAP1; CENTB1; KIAA0050", "gene_names_refseq": "ACAP1; CENTB1", "protein_names_uniprotkb": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1; Centaurin-beta-1; Cnt-b1", "protein_names_refseq": "Arf GAP with coiled coil, ANK repeat and PH domains 1; arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1; centaurin-beta-1; cnt-b1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:9744)", "pathway_count": 1, "publication_count": 87, "publication_id_list": "10671200;11050434;11062263;11237011;15525538;15592455;16115862;16256741;16777052;16959974;17010122;17398097;17664335;21209280;22424782;22544926;22645133;23481700;24366607;24715725;25284369;25418920;25502872;25505266;25576301;25810538;26154972;26375851;26811146;26929215;26992070;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30524438;31154438;31291238;31530632;31844290;31848261;31937595;31998317;32265295;32357974;32387766;32456571;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33691108;33717175;33912179;33936100;34078123;34087483;34357683;34433824;34932366;35051231;35154160;35561310;35580925;36241641;36284347;37938771;38253038;40914422", "class_list": "", "function": "ACAP1 promotes endocytic recycling by recognizing recycling sorting signals., [RefSeq, PubMed]; As ACAP1 is an unconventional BAR protein, our findings broaden the understanding of the mechanistic spectrum by which proteins assemble into higher-ordered structures to achieve membrane deformation Publication Status: Online-Only, [RefSeq, PubMed]; Centaurin beta1/KIAA0050, is a member of the centaurin family of ADP-ribosylation factor directed GTPase-activating proteins. Binding of phosphoinositides to a pleckstrin homology domain may regulate subcellular localisation and activity. Review article, [RefSeq, PubMed]; Centaurin beta1/KIAA0050, or ACAP1, is a phospholipid dependent, ARF6 preferring GTPase-activating protein. It can regulate cytoskeletal and membrane trafficking events in the cell periphery and may be regulated via a phosphoinositide-binding PH domain., [RefSeq, PubMed]; Expression of ACAP1 Is Associated with Tumor Immune Infiltration and Clinical Outcome of Ovarian Cancer., [RefSeq, PubMed]; GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface. Required for regulated export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; GTPase-activating protein for the ADP ribosylation factor family., [UniProtKB, UniProtKB, UniProtKB]", "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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q53XN9", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0016020 membrane;GO:0055038 recycling endosome membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q15027-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HC98-1", "uniprot_id": [ { "id": "NEK6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HC98", "type": "external" } ], "mass": 35714.0, "length": 313, "protein_name": "Serine/threonine-protein kinase Nek6", "gene_name": "NEK6", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Nek6 isoform 1", "refseq_ac": [ { "id": "NP_001138473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138473", "type": "external" } ], "gene_names_uniprotkb": "NEK6", "gene_names_refseq": "NEK6; SID6-1512", "protein_names_uniprotkb": "Serine/threonine-protein kinase Nek6; 2.7.11.34; Never in mitosis A-related kinase 6; NimA-related protein kinase 6; Protein kinase SID6-1512", "protein_names_refseq": "NIMA (never in mitosis gene a)-related kinase 6; never in mitosis A-related kinase 6; nimA-related protein kinase 6; protein kinase SID6-1512; putative serine-threonine protein kinase; serine/threonine-protein kinase Nek6 isoform 1; serine/threonine-protein kinase Nek6", "tax_id": 9606, "disease": "", "pathway": " (hsa:10783); (R-HSA-2980767); (R-HSA-3301854); (R-HSA-9648025)", "pathway_count": 4, "publication_count": 106, "publication_id_list": "11237011;11516946;11701951;12054534;12101123;12589057;12679384;12840024;12852857;14563848;16079175;16280549;16476580;16890222;17196341;17512906;17698605;18728393;19001501;19369195;19414596;19941817;20068231;20407017;20873783;21099361;21200151;21320329;21335236;21642957;23186163;23481700;23783831;24366607;24714562;24715725;25418920;25505266;25576301;25645385;25740311;25789526;26154972;26375851;26728094;26811146;26929215;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30833945;31154438;31409757;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33968037;34087483;34185709;34357683;34643969;34932366;35051231;35580925;35898455;35993441;36010968;36284347;36672191;37938771", "class_list": "", "function": "Also includes phylogenetic analysis and tissue-specific RT-PCR of human NEK6 and NEK7., [RefSeq, PubMed]; CRISPR/Cas9 screen in human iPSC-derived cortical neurons identifies NEK6 as a novel disease modifier of C9orf72 poly(PR) toxicity., [RefSeq, PubMed]; NEK6 Regulates Redox Balance and DNA Damage Response in DU-145 Prostate Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; NEK6 is an injury-responsive kinase cooperating with STAT3 in regulation of reactive astrogliosis., [RefSeq, PubMed]; Predictive Role of NEK6 in Prognosis and Immune Infiltration in Head and Neck Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Protein kinase which plays an important role in mitotic cell cycle progression (PubMed:11516946, PubMed:14563848). Required for chromosome segregation at metaphase-anaphase transition, robust mitotic spindle formation and cytokinesis (PubMed:19414596). Phosphorylates ATF4, CIRSR, PTN, RAD26L, RBBP6, RPS7, RPS6KB1, TRIP4, STAT3 and histones H1 and H3 (PubMed:12054534, PubMed:20873783). Phosphorylates KIF11 to promote mitotic spindle formation (PubMed:19001501). Involved in G2/M phase cell cycle arrest induced by DNA damage (PubMed:18728393). Inhibition of activity results in apoptosis. May contribute to tumorigenesis by suppressing p53/TP53-induced cancer cell senescence (PubMed:21099361). Phosphorylates EML4 at 'Ser-144', promoting its dissociation from microtubules during mitosis which is required for efficient chromosome congression (PubMed:31409757)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a kinase required for progression through the metaphase portion of mitosis. Inhibition of the encoded protein can lead to apoptosis. This protein also can enhance tumorigenesis by suppressing tumor cell senescence. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [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": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "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": "B7Z2D9;Q5TBG3;Q5TBG9;Q6FG86;Q6IAR3;Q96E83;Q9ULX2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "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:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007059 chromosome segregation;GO:0007077 mitotic nuclear membrane disassembly;GO:0051301 cell division;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q9HC98-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00506-1", "uniprot_id": [ { "id": "STK25_HUMAN", "url": "https://www.uniprot.org/uniprot/O00506", "type": "external" } ], "mass": 48112.0, "length": 426, "protein_name": "Serine/threonine-protein kinase 25", "gene_name": "STK25", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 25 isoform 1", "refseq_ac": [ { "id": "NP_001258906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258906", "type": "external" } ], "gene_names_uniprotkb": "STK25; SOK1; YSK1", "gene_names_refseq": "SOK1; STK25; YSK1", "protein_names_uniprotkb": "Serine/threonine-protein kinase 25; 2.7.11.1; SOK-1; Ste20-like kinase; Ste20/oxidant stress response kinase 1; Sterile 20/oxidant stress-response kinase 1", "protein_names_refseq": "Ste20, yeast homolog; serine/threonine-protein kinase 25 isoform 1; serine/threonine-protein kinase 25; ste20-like kinase; ste20/oxidant stress response kinase 1; sterile 20/oxidant stress-response kinase 1", "tax_id": 9606, "disease": "cerebral cavernous malformation (Disease Ontology:DOID:0060669)", "pathway": " (hsa:10494)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "11237011;15037601;17253963;17287340;18452278;18578522;18782753;22564745;23481700;24715725;25880248;26154972;26375851;26992070;27846572;27862975;27920218;28218747;28228285;28832583;28904123;29242379;29437277;29508533;29557506;29632711;30315122;30410026;30429286;30484775;30524438;30779550;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33633747;33968037;33981976;34087483;34171305;34509645;34634521;35051231;35349179;35580925;35977512;36010968;36215666;36728989;40639948;40914422;8887545;9160885", "class_list": "", "function": "14-3-3zeta is a specific substrate for YSK1 that localizes to the Golgi apparatus, and potentially links YSK1 signaling at the Golgi apparatus with protein transport., [RefSeq, PubMed]; Downregulation of STK25 promotes autophagy via the Janus kinase 2/signal transducer and activator of transcription 3 pathway in colorectal cancer., [RefSeq, PubMed]; Oxidant stress-activated serine/threonine kinase that plays a role in metabolic homeostasis, neuronal polarization, cell migration, Golgi organization, apoptosis or innate immunity. Targets to the Golgi apparatus where it appears to regulate protein transport events, cell adhesion, and polarity complexes important for cell migration. Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (PubMed:18782753). Functions as an inhibitor of the PKA pathway by affecting phosphorylation of the PRKAR1A regulatory subunit, which in turn suppresses the kinase activity of the catalytic subunit (PubMed:35977512). Positively regulates the TLR signaling by directly phosphorylating the transcription factor IRF5 (PubMed:40639948)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; STK25 inhibits PKA signaling by phosphorylating PRKAR1A., [RefSeq, PubMed]; STK25: a viable therapeutic target for cancer treatments? Review article, [RefSeq, PubMed]; Ste20 family member (MAP4K3) that is required for maximal S6K (S6 kinase)/4E-BP1 [eIF4E (eukaryotic initiation factor 4E) that is required for maximal S6K (S6 kinase)., [RefSeq, PubMed]; This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 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, "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": 5, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 2, "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": "A8K6Z3;A8K7D2;B7Z9K1;Q15522;Q5BJF1", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "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:0042803 protein homodimerization activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome;GO:0090443 FAR/SIN/STRIPAK complex", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0006979 response to oxidative stress;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0046777 protein autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "O00506-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZN9-1", "uniprot_id": [ { "id": "AIPL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZN9", "type": "external" } ], "mass": 43903.0, "length": 384, "protein_name": "Aryl-hydrocarbon-interacting protein-like 1", "gene_name": "AIPL1", "organism": "Human", "refseq_name": "aryl-hydrocarbon-interacting protein-like 1 isoform 2", "refseq_ac": [ { "id": "NP_001028226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028226", "type": "external" } ], "gene_names_uniprotkb": "AIPL1; AIPL2", "gene_names_refseq": "AIPL1; AIPL2; LCA4", "protein_names_uniprotkb": "Aryl-hydrocarbon-interacting protein-like 1", "protein_names_refseq": "aryl hydrocarbon receptor interacting protein like 1; aryl-hydrocarbon-interacting protein-like 1 isoform 2", "tax_id": 9606, "disease": "Leber congenital amaurosis 4 (Disease Ontology:DOID:0110332); retinitis pigmentosa (Disease Ontology:DOID:10584); blindness (Disease Ontology:DOID:1432); Leber congenital amaurosis (Disease Ontology:DOID:14791)", "pathway": " (hsa:23746)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10615133;11237011;12374762;17724218;21602930;29557506;32976546;33067476", "class_list": "", "function": "Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration. Publication Status: Online-Only, [RefSeq, PubMed]; Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; May be important in protein trafficking and/or protein folding and stabilization., [UniProtKB]; Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. Publication Status: Online-Only, [RefSeq, 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": 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": 6, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DTM4;Q659W3;Q659W4;Q6ZZB6;Q8N6A0;Q9H873;Q9NS10", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0001918 farnesylated protein binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0001917 photoreceptor inner segment", "go_biological_process": "GO:0007601 visual perception;GO:0018343 protein farnesylation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9NZN9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61964-1", "uniprot_id": [ { "id": "WDR5_HUMAN", "url": "https://www.uniprot.org/uniprot/P61964", "type": "external" } ], "mass": 36588.0, "length": 334, "protein_name": "WD repeat-containing protein 5", "gene_name": "WDR5", "organism": "Human", "refseq_name": "WD repeat-containing protein 5 isoform 1", "refseq_ac": [ { "id": "NP_060058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060058", "type": "external" } ], "gene_names_uniprotkb": "WDR5; BIG3", "gene_names_refseq": "BIG-3; BIG3; CFAP89; SWD3; WDR5", "protein_names_uniprotkb": "WD repeat-containing protein 5; BMP2-induced 3-kb gene protein", "protein_names_refseq": "BMP-2-induced gene 3 kb; BMP2-induced 3-kb gene protein; SWD3, Set1c WD40 repeat protein, homolog; WD repeat-containing protein 5 isoform 1; WD repeat-containing protein 5; cilia and flagella associated protein 89", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:11091); (R-HSA-201722); (R-HSA-3214841); (R-HSA-3214847); (R-HSA-3214858); (R-HSA-3769402); (R-HSA-5617472); (R-HSA-8936459); (R-HSA-8951664); (R-HSA-9733709); (R-HSA-9772755); (R-HSA-9818564); (R-HSA-9841922); (R-HSA-9909649); (R-HSA-9943962); (R-HSA-9944997); (R-HSA-9976102)", "pathway_count": 17, "publication_count": 477, "publication_id_list": 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"class_list": "", "function": "Contributes to histone modification (PubMed:16600877, PubMed:16829960, PubMed:19103755, PubMed:19131338, PubMed:19556245, PubMed:20018852). May position the N-terminus of histone H3 for efficient trimethylation at 'Lys-4' (PubMed:16829960). As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3 (PubMed:19556245). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation (PubMed:18840606). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:19103755, PubMed:20018852). May regulate osteoblasts differentiation (By similarity). In association with RBBP5 and ASH2L, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B (PubMed:21220120, PubMed:22266653)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Highly expressed B3GALT5-AS1 contributes to gastric cancer progression by recruiting WDR5 to mediate B3GALT5 and regulating beta-catenin/ZEB1 axis., [RefSeq, PubMed]; METTL3 orchestrates glycolysis by stabilizing the c-Myc/WDR5 complex in triple-negative breast cancer., [RefSeq, PubMed]; Mitotic gene regulation by the N-MYC-WDR5-PDPK1 nexus. Publication Status: Online-Only, [RefSeq, PubMed]; The NTE domain of PTENalpha/beta promotes cancer progression by interacting with WDR5 via its SSSRRSS motif. Publication Status: Online-Only, [RefSeq, PubMed]; The WDR5 is required for binding of the methyltransferase complex to the K4-dimethylated H3 tail as well as for global H3 K4 trimethylation and HOX gene activation in human cells., [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 protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q91VA5;Q9NWX7;Q9UGP9", "ec_number_list": [], "go_molecular_function": "GO:0042393 histone binding;GO:0042800 histone H3K4 methyltransferase activity;GO:0140004 histone H3Q5ser reader activity;GO:0140109 histone H3K4me1 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035097 histone methyltransferase complex;GO:0044666 MLL3/4 complex;GO:0048188 Set1C/COMPASS complex", "go_biological_process": "GO:0090043 regulation of tubulin deacetylation;GO:0000122 negative regulation of transcription by RNA polymerase II;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": 48.1, "record_id": "P61964-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07912-1", "uniprot_id": [ { "id": "ACK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07912", "type": "external" } ], "mass": 114569.0, "length": 1038, "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "organism": "Human", "refseq_name": "activated CDC42 kinase 1 isoform 3", "refseq_ac": [ { "id": "NP_001294975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294975", "type": "external" } ], "gene_names_uniprotkb": "TNK2; ACK1", "gene_names_refseq": "ACK-1; ACK1; ACK; TNK2; p21cdc42Hs", "protein_names_uniprotkb": "Activated CDC42 kinase 1; 2.7.10.2; 2.7.11.1; ACK-1; Tyrosine kinase non-receptor protein 2", "protein_names_refseq": "activated CDC42 kinase 1 isoform 3; activated Cdc42-associated kinase 1; activated p21cdc42Hs kinase; tyrosine kinase non-receptor protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10188); (R-HSA-9842663)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "10360579;10445845;10587647;10652228;11237011;11278436;14506255;14695357;14733946;14739304;15308621;15592455;15951569;16137687;16247015;16257963;16288044;16472662;16497976;17038317;17081983;17344846;17389395;17494760;18262180;18435854;18477472;18669648;18691976;18707149;18849880;18993068;19144635;19369195;19815557;19901323;20110370;20333297;20383201;20432460;20548102;20623637;20979614;21169560;21309750;22347506;23686771;24715725;25257795;25331893;25576301;26154972;26418745;26498357;26630010;26992070;27920218;28218747;28228285;28657654;28834231;28904123;29242379;29437277;29493099;29557506;30059200;30061385;30315122;30410026;30620550;31492838;31844290;32157095;32350084;32357974;32387766;32574038;32938616;32938750;32983136;33298915;33592498;33912179;33968037;33981976;34087483;34185709;34357683;34433824;34509645;34646012;34819673;35051231;35132862;35254053;35580925;36010968;36980241;37133719;37194323;38650011;38665916;39302247;39531497;8497321;9223670", "class_list": "", "function": "ACKnowledging the role of the Activated-Cdc42 associated kinase (ACK) in regulating protein stability in cancer. Review article, [RefSeq, PubMed]; Domain Architecture of the Nonreceptor Tyrosine Kinase Ack1. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Host factor TNK2 is required for influenza virus infection., [RefSeq, PubMed]; Non-receptor tyrosine-protein and serine/threonine-protein kinase that is implicated in cell spreading and migration, cell survival, cell growth and proliferation. Transduces extracellular signals to cytosolic and nuclear effectors. Phosphorylates AKT1, AR, MCF2, WASL and WWOX. Implicated in trafficking and clathrin-mediated endocytosis through binding to epidermal growth factor receptor (EGFR) and clathrin. Binds to both poly- and mono-ubiquitin and regulates ligand-induced degradation of EGFR, thereby contributing to the accumulation of EGFR at the limiting membrane of early endosomes. Downstream effector of CDC42 which mediates CDC42-dependent cell migration via phosphorylation of BCAR1. May be involved both in adult synaptic function and plasticity and in brain development. Activates AKT1 by phosphorylating it on 'Tyr-176'. Phosphorylates AR on 'Tyr-267' and 'Tyr-363' thereby promoting its recruitment to androgen-responsive enhancers (AREs). Phosphorylates WWOX on 'Tyr-287'. Phosphorylates MCF2, thereby enhancing its activity as a guanine nucleotide exchange factor (GEF) toward Rho family proteins. Contributes to the control of AXL receptor levels. Confers metastatic properties on cancer cells and promotes tumor growth by negatively regulating tumor suppressor such as WWOX and positively regulating pro-survival factors such as AKT1 and AR. Phosphorylates WASP (PubMed:20110370)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; ZNF692 promotes osteosarcoma cell proliferation, migration, and invasion through TNK2-mediated activation of the MEK/ERK pathway. Publication Status: Online-Only, [RefSeq, 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, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZMQ0;Q8N6U7;Q96H59", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "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:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0007166 cell surface receptor signaling pathway;GO:2000369 regulation of clathrin-dependent endocytosis;GO:0007264 small GTPase-mediated signal transduction;GO:0016310 phosphorylation", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q07912-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11362-1", "uniprot_id": [ { "id": "FGFR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P11362", "type": "external" } ], "mass": 91868.0, "length": 822, "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "organism": "Human", "refseq_name": "fibroblast growth factor receptor 1 isoform 10 precursor", "refseq_ac": [ { "id": "NP_001167534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167534", "type": "external" } ], "gene_names_uniprotkb": "FGFR1; BFGFR; CEK; FGFBR; FLG; FLT2; HBGFR", "gene_names_refseq": "BFGFR; CD331; CEK; ECCL; FGFBR; FGFR-1; FGFR1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM; OGD; bFGF-R-1", "protein_names_uniprotkb": "Fibroblast growth factor receptor 1; 2.7.10.1; BFGFR; Basic fibroblast growth factor receptor 1; FGFR-1; FLT-2; Fms-like tyrosine kinase 2; N-sam; bFGF-R-1", "protein_names_refseq": "FGFR1/PLAG1 fusion; FMS-like tyrosine kinase 2; basic fibroblast growth factor receptor 1; fibroblast growth factor receptor 1 isoform 10 precursor; fms-related tyrosine kinase 2; heparin-binding growth factor receptor; hydroxyaryl-protein kinase; proto-oncogene c-Fgr", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852); atypical chronic myeloid leukemia, BCR-ABL1 negative (Disease Ontology:DOID:0060597); myeloid neoplasm (Disease Ontology:DOID:0070004); bone disease (Disease Ontology:DOID:0080001); T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0081312); hypogonadotropic hypogonadism (Disease Ontology:DOID:0090070); hypogonadotropic hypogonadism 7 with or without anosmia (Disease Ontology:DOID:0090078); hypogonadotropic hypogonadism 2 with or without anosmia (Disease Ontology:DOID:0090083); Jackson-Weiss syndrome (Disease Ontology:DOID:0111337); osteoglophonic dysplasia (Disease Ontology:DOID:0111532); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); otitis media (Disease Ontology:DOID:10754); sciatic neuropathy (Disease Ontology:DOID:11446); acoustic neuroma (Disease Ontology:DOID:12689); acrocephalosyndactylia (Disease Ontology:DOID:12960); Pfeiffer syndrome (Disease Ontology:DOID:14705); transient cerebral ischemia (Disease Ontology:DOID:224); high grade glioma (Disease Ontology:DOID:3070); lung non-small cell carcinoma (Disease Ontology:DOID:3908); mouth disease (Disease Ontology:DOID:403); renal cell carcinoma (Disease Ontology:DOID:4450); mesangial proliferative glomerulonephritis (Disease Ontology:DOID:4783); fibrolamellar carcinoma (Disease Ontology:DOID:5015); retinal detachment (Disease Ontology:DOID:5327); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); osteoarthritis (Disease Ontology:DOID:8398); myeloid leukemia (Disease Ontology:DOID:8692); vascular dementia (Disease Ontology:DOID:8725); acute myeloid leukemia (Disease Ontology:DOID:9119); cleft lip (Disease Ontology:DOID:9296); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970); trigonocephaly 1 (MONDO:MONDO:0008603); encephalocraniocutaneous lipomatosis (MONDO:MONDO:0013074); Hartsfield-Bixler-Demyer syndrome (MONDO:MONDO:0014196)", "pathway": " (hsa:2260); (R-HSA-1839122); (R-HSA-5655302); (R-HSA-8853336); (R-HSA-9758919); (R-HSA-9793380)", "pathway_count": 6, "publication_count": 209, "publication_id_list": "10.1101/2023.09.13.557529;10053006;10454568;10464310;10579907;10652257;10655587;10688839;10690855;10766980;10830168;10861678;10918587;11030354;11121055;11157491;11173846;11237011;11353842;11429702;11689702;11739186;11781872;12112473;12141425;12181353;12601080;12627230;12952917;1317750;1379697;1379698;14513299;14534538;14613973;15001591;15034873;15050920;15117958;15282208;15448205;15605412;15625620;15793702;15845591;15863030;16091734;16140923;16186508;16335952;16418210;16470795;16481405;1650441;16507368;1652059;1656221;16597617;16606836;1662973;16757108;16764984;16844695;16882753;16946300;1697263;17154279;17200176;1722683;17235395;17311277;17344846;17360555;17389761;17505008;17525745;17623664;17698633;18056464;18083107;18337450;18373495;18381441;18411303;18412956;18441324;1846977;18480409;18552176;18596921;18757403;18772890;19103595;19147536;19224897;19261810;19381019;19504604;19665973;19696444;19749790;19809159;19820032;19946327;19966287;20094046;20117945;20133753;20139426;20179196;20422052;20626350;20709759;21160078;21454610;2159626;2162671;21666749;2167437;21700882;21711248;21765395;22247553;22837387;22927827;23041776;23090970;23405013;23481700;23558953;23564461;23643382;23812909;23819449;24141780;24190977;24588013;24714562;24715725;24850843;24888332;25077900;25394172;25576301;25645385;25705862;25892735;26097890;26154972;26277103;26942290;27783942;28178531;28467828;28646488;28806774;29391424;29557506;29671580;29720732;29729076;29741879;29750313;30429286;30980524;31013829;31146385;31844290;32157095;32161166;32350084;32387766;32938616;33141586;33592498;33912179;33936100;33968037;34087483;34171305;34357683;34433824;35003900;35051231;35154160;35251023;36010968;36284347;37074911;38529886;38665916;39122837;6881209;7516330;7520751;7537362;7874169;8074689;8321198;8443592;8622701;8663044;8752212;9139660;9655399;9716603;9857065;9880324;9949182", "class_list": "glycogene", "function": "Fibroblast growth receptor 1 is regulated by G-quadruplex in metastatic breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 25, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 3641, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 15, "disease_count": 37, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K6T9;A8K8V5;C1KBH8;P17049;Q02063;Q02065;Q14306;Q14307;Q53H63;Q59H40;Q5BJG2;Q8N685;Q9UD50;Q9UDF0;Q9UDF1;Q9UDF2", "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": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "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", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" } ], "go_molecular_function": "GO:0005007 fibroblast growth factor receptor activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0008201 heparin binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:1904383 response to sodium phosphate;GO:1905564 positive regulation of vascular endothelial cell proliferation;GO:0071344 diphosphate metabolic process;GO:2001028 positive regulation of endothelial cell chemotaxis;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 23.2, "record_id": "P11362-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UR5-1", "uniprot_id": [ { "id": "RIMS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UR5", "type": "external" } ], "mass": 189073.0, "length": 1692, "protein_name": "Regulating synaptic membrane exocytosis protein 1", "gene_name": "RIMS1", "organism": "Human", "refseq_name": "regulating synaptic membrane exocytosis protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001161879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161879", "type": "external" } ], "gene_names_uniprotkb": "RIMS1; KIAA0340; Nbla00761; RAB3IP2; RIM1", "gene_names_refseq": "CORD7; RAB3IP2; RIM1; RIMS1; RIM", "protein_names_uniprotkb": "Regulating synaptic membrane exocytosis protein 1; RIM 1; Rab-3-interacting molecule 1; Rab-3-interacting protein 2", "protein_names_refseq": "RAB3-interacting protein 2; rab-3-interacting protein 2; rab3-interacting molecule 1; regulating synaptic membrane exocytosis protein 1 isoform 2", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); cone-rod dystrophy 7 (Disease Ontology:DOID:0111012); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:22999); (R-HSA-181429); (R-HSA-181430); (R-HSA-210500); (R-HSA-212676); (R-HSA-264642); (R-HSA-888590)", "pathway_count": 7, "publication_count": 68, "publication_id_list": "10440375;10620514;11001057;11015561;11017172;11027560;11068039;11237011;11242046;11438518;11756489;12519779;12659814;12750892;12871946;1339386;15935055;16116111;16616430;16722236;17301226;17478680;17766642;17891149;17989281;18215623;18220336;18617632;18669648;19375301;19413330;20068231;23363473;23999003;24578174;28011674;28377503;28657654;28832583;2892215;29242379;29557506;30379171;30429286;31154438;31530632;31844290;3214421;32157095;32161166;32488085;32938616;33592498;33968037;33981976;34932366;35051231;35318648;35580925;36010968;36240223;7823026;8071310;8095030;8211186;9260930;9701566;9753324", "class_list": "", "function": "Electrophysiological characterization of VDCC currents revealed that the suppressive effect of RIM2alpha on voltage-dependent inactivation (VDI) was stronger than that of RIM1alpha for the CaV2.1 variant containing the region encoded by exons 44 and 47., [RefSeq, PubMed]; Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003)., [UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]., [RefSeq]; The study identified a region on chromosome 6 comprising the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus for pediatric venous thromboembolism., [RefSeq, 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, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 34, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 88, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A7MBN6;B7Z2M0;B7Z2Q9;B7Z3S3;B7Z6S2;E7EX08;E9PCB7;E9PCZ1;E9PF48;E9PHF5;E9PHR1;O15048;Q5JY21;Q5JY25;Q5SZK1;Q8TDY9;Q8TDZ5;Q9HBA1;Q9HBA2;Q9HBA3;Q9HBA4;Q9HBA5;Q9HBA6", "ec_number_list": [], "go_molecular_function": "GO:0098882 structural constituent of presynaptic active zone;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0031267 small GTPase binding;GO:0030695 GTPase regulator activity", "go_cellular_component": "GO:0098831 presynaptic active zone cytoplasmic component;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0048786 presynaptic active zone;GO:0042734 presynaptic membrane", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0006886 intracellular protein transport;GO:0010628 positive regulation of gene expression;GO:0030154 cell differentiation;GO:0045055 regulated exocytosis", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q86UR5-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWZ7-1", "uniprot_id": [ { "id": "ABRX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWZ7", "type": "external" } ], "mass": 46663.0, "length": 409, "protein_name": "BRCA1-A complex subunit Abraxas 1", "gene_name": "ABRAXAS1", "organism": "Human", "refseq_name": "BRCA1-A complex subunit Abraxas 1 isoform 2", "refseq_ac": [ { "id": "NP_001332891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001332891", "type": "external" } ], "gene_names_uniprotkb": "ABRAXAS1; ABRA1; CCDC98; FAM175A; PRO1013", "gene_names_refseq": "ABRA1; ABRAXAS1; CCDC98; FAM175A", "protein_names_uniprotkb": "BRCA1-A complex subunit Abraxas 1; Coiled-coil domain-containing protein 98; Protein FAM175A", "protein_names_refseq": "BRCA1-A complex subunit Abraxas 1 isoform 2; BRCA1-A complex subunit Abraxas 1; abraxas protein; coiled-coil domain containing 98; family with sequence similarity 175 member A", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612)", "pathway": " (hsa:84142); (R-HSA-5689901); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-69473)", "pathway_count": 6, "publication_count": 215, "publication_id_list": "10383417;10550055;10572166;10724175;10757784;10766245;10802669;10859164;10866324;10959836;10973490;11025670;11080452;11114888;11139606;11237011;11301010;11376695;11390408;11390642;11493912;11571274;11573085;11604075;11702069;11893489;11927591;11934988;11955432;12023295;12077346;12152085;12186630;12231622;12353037;12364621;12447390;12485996;12509254;12545175;12578958;12607003;12607005;12697768;12773400;12791985;12792649;12832489;12890688;12897153;12947387;12975309;14560035;14561766;14576433;15064416;15177042;15189136;15190204;15201865;15279782;15451442;15468306;15574327;15707391;15723659;16061182;16093244;16148040;16150728;16153896;16327781;16360315;16377563;16427009;16439204;16439205;16530042;16600297;16651405;16874298;16885023;16914548;17290226;17470781;17525332;17525340;17553757;17575048;17643121;17643122;17707232;17848578;17928296;17965729;18001824;18001825;18006705;18046455;18077395;18171670;18270812;18397950;18443292;18644861;18669648;18695986;18758443;18767875;18805091;18923075;18971343;19001859;19092802;19117993;19176521;19202061;19203578;19203579;19234442;19261746;19261748;19261749;19351884;19357644;19413330;19419957;19505854;19651622;19664995;19690332;19782031;20016603;20023648;20058876;20068231;20154705;20233725;20351172;21052091;21240188;21263215;21282113;21293379;21325134;21335604;21406692;21659603;21680713;21777809;22021381;22024395;22179609;22231403;22234877;22357538;22373579;22508508;22529269;22589545;22635276;22661229;22661230;22792074;22908299;22977173;22980979;23186163;23246432;23306437;23333306;23345434;23468639;23505375;23727112;24075985;24236237;24316840;24667604;25105795;25113031;25122754;25512557;25558984;25659039;25818648;25841101;26778126;26992070;28411811;28832583;29242379;29393594;29557506;29632046;31844290;32357974;32387766;32488085;32983136;33968037;34509645;35051231;35580925;36172813;37198153;8422676;8944023;9168116;9259561;9430729;9488723;9512523;9705271;9826654", "class_list": "", "function": "ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Abraxas and RAP80 were required for DNA damage resistance, G(2)-M checkpoint control, and DNA repair., [RefSeq, PubMed]; CCDC98 is a BRCA1 binding partner that mediates BRCA1 function in response to DNA damage., [RefSeq, PubMed]; CCDC98 is a mediator of BRCA1 function involved in the mammalian DNA damage response., [RefSeq, PubMed]; Demonstrate a mechanism involving IR-induced phosphorylation and dimerization of the BRCT/Abraxas complex for regulating Abraxas-mediated recruitment of BRCA1 in response to IR., [RefSeq, PubMed]; Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mutational analysis in 168 multiple-case breast/ovarian cancer families, negative for mutations in BRCA1 or BRCA2, suggests that CCDC98 does not play an important role as a high penetrance breast cancer susceptibility gene. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The human Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage, [RefSeq, PubMed]; This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]., [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": 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": 11, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 6, "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": "A5JJ07;Q9H8I1;Q9H9N4", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0031593 polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0070531 BRCA1-A complex", "go_biological_process": "GO:0008608 attachment of spindle microtubules to kinetochore;GO:0090307 mitotic spindle assembly;GO:0006302 double-strand break repair;GO:0010212 response to ionizing radiation;GO:0045739 positive regulation of DNA repair", "synthesized_glycan_count": 0, "hit_score": 21.8, "record_id": "Q6UWZ7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKV3-1", "uniprot_id": [ { "id": "ACINU_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKV3", "type": "external" } ], "mass": 151862.0, "length": 1341, "protein_name": "Apoptotic chromatin condensation inducer in the nucleus", "gene_name": "ACIN1", "organism": "Human", "refseq_name": "apoptotic chromatin condensation inducer in the nucleus isoform 4", "refseq_ac": [ { "id": "NP_001158288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158288", "type": "external" } ], "gene_names_uniprotkb": "ACIN1; ACINUS; KIAA0670", "gene_names_refseq": "ACIN1; ACINUS; ACN; fSAP152", "protein_names_uniprotkb": "Apoptotic chromatin condensation inducer in the nucleus; Acinus", "protein_names_refseq": "apoptotic chromatin condensation inducer in the nucleus isoform 4; apoptotic chromatin condensation inducer in the nucleus; functional spliceosome-associated protein 152", "tax_id": 9606, "disease": "", "pathway": " (hsa:22985); (R-HSA-111465); (R-HSA-72163)", "pathway_count": 3, "publication_count": 214, "publication_id_list": "10200466;10453075;10490026;10882114;11014198;11101529;11106668;11233976;11237011;11278797;11313965;11463840;11741893;11991638;12107159;12176931;12411573;12414731;12477934;12665594;12668660;14625303;14713954;15302935;16083285;16123041;16177823;16314458;16809785;16959974;16964243;16983089;17081983;17095540;17287340;17297457;17322306;17332742;17606899;17924679;18077418;18212344;18220336;18318008;18322460;18438403;18452278;18559500;18593880;18669648;18707149;18767875;19007248;19103666;19165350;19367720;19387494;19413330;19415658;19536130;19592491;19608861;19651622;19664994;19664995;19690332;19691289;20058876;20068230;20068231;20166139;20423332;20966198;20980672;21056976;21406692;21536652;2176635;22110043;22203037;22365833;22388736;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;24029068;24196718;24275569;24304693;24448447;24556848;24714562;24737827;24914973;25114211;25218447;25555158;25576301;2558966;25755297;25772364;25810538;26385511;26420826;26853435;26969736;26992070;27377154;27397612;27459055;27683217;27846572;27869121;27920218;28062851;28076346;28228285;28502770;28510447;28649982;28781166;28832583;29242379;29301961;29351928;29360106;29361316;29393594;29493099;29557506;2963332;29786170;29789417;30192525;30201066;30315277;30379171;30429286;30484775;30705154;30728453;30765414;30975767;31154438;31217245;31409651;31530632;31844290;31848261;32119511;32157095;32161166;32179686;32329775;32350084;32357974;32387766;32494006;32938616;32983136;33142236;33214551;33243851;33298915;33446560;33465208;33592498;33633747;33968037;33981976;34019948;34229054;34301950;34357683;34561969;34725712;34822310;35051231;35083852;35132862;35251023;35318648;35385551;35561310;35580925;36010968;36215666;36284347;3757028;37938771;39302247;40307207;40596516;40914422;8566756;8608946;8976194;9016565;9242493;9252332;9325343;9431985;9512519;9524131;9539711;9671485;9701291;9731529;9973322", "class_list": "", "function": "ACIN1 mRNA was highly expressed in platelets of lung cancer patients, [RefSeq, PubMed]; Akt phosphorylation of acinus on serine 422 and 573 results in its resistance to caspase cleavage in the nucleus and the inhibition of acinus-dependent chromatin condensation., [RefSeq, PubMed]; Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets; ACIN1 confers RNA-binding to the complex. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. Induces apoptotic chromatin condensation after activation by CASP3. Regulates cyclin A1, but not cyclin A2, expression in leukemia cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The SRSF3-MBNL1-Acin1 circuit constitutes an emerging axis to lessen DNA fragmentation in colorectal cancer via an alternative splicing mechanism., [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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 100, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B2RTT4;D3DS45;O75158;Q9UG91;Q9UKV1;Q9UKV2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019899 enzyme binding;GO:0016887 ATP hydrolysis activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0061574 ASAP complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0043065 positive regulation of apoptotic process;GO:0030218 erythrocyte differentiation;GO:0045657 positive regulation of monocyte differentiation;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 22.7, "record_id": "Q9UKV3-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60242-1", "uniprot_id": [ { "id": "AGRB3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60242", "type": "external" } ], "mass": 171518.0, "length": 1522, "protein_name": "Adhesion G protein-coupled receptor B3", "gene_name": "ADGRB3", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor B3", "refseq_ac": [ { "id": "NP_001695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001695", "type": "external" } ], "gene_names_uniprotkb": "ADGRB3; BAI3; KIAA0550", "gene_names_refseq": "ADGRB3; BAI3", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor B3; Brain-specific angiogenesis inhibitor 3", "protein_names_refseq": "adhesion G protein-coupled receptor B3; dJ91B17.1 (brain-specific angiogenesis inhibitor 3)", "tax_id": 9606, "disease": "", "pathway": " (hsa:577)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18628273;18669648;19240061;19913121;20058876;21262840;22333914;24567399;25713288;26758079;28904123;29331515;29393594;29557506;29632711;29671580;30228187;30524438;30659260;32350084;33497605;34075027;35051231;35251023;36010968;37217939;9533023", "class_list": "", "function": "BAI3 mediates the inhibitory effects of C1ql3 on insulin secretion from pancreatic beta-cells., [RefSeq, PubMed]; Genetic underpinnings of affective temperaments: a pilot GWAS investigation identifies a new genome-wide significant SNP for anxious temperament in ADGRB3 gene. Publication Status: Online-Only, [RefSeq, PubMed]; Level of disorganized symptoms was significantly (P < 6.00 x 10(-5)) associated 2 SNPs within the brain-specific angiogenesis inhibitor 3 (BAI3) gene, which is highly expressed in brain during development., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Receptor that plays a role in the regulation of synaptogenesis and dendritic spine formation at least partly via interaction with ELMO1 and RAC1 activity (By similarity). Promotes myoblast fusion through ELMO/DOCK1 (PubMed:24567399)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Tethered agonist exposure in intact adhesion/class B2 GPCRs through intrinsic structural flexibility of the GAIN domain., [RefSeq, PubMed]; These findings further support this association and also suggest that biallelic variants affecting the function of the ADGRB3 gene may also cause cognitive impairments and ataxia., [RefSeq, PubMed]; This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 9, "predicted_n_glycosites": 9, "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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 130, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1K0;O60297;Q2NKN6;Q5VY37;Q9BX54", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0098794 postsynapse;GO:0043083 synaptic cleft;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0016322 neuron remodeling;GO:0048814 regulation of dendrite morphogenesis;GO:0007520 myoblast fusion", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "O60242-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15825-1", "uniprot_id": [ { "id": "ACHA6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15825", "type": "external" } ], "mass": 56898.0, "length": 494, "protein_name": "Neuronal acetylcholine receptor subunit alpha-6", "gene_name": "CHRNA6", "organism": "Human", "refseq_name": "neuronal acetylcholine receptor subunit alpha-6 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001186208", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186208", "type": "external" } ], "gene_names_uniprotkb": "CHRNA6", "gene_names_refseq": "CHNRA6; CHRNA6", "protein_names_uniprotkb": "Neuronal acetylcholine receptor subunit alpha-6", "protein_names_refseq": "acetylcholine receptor, nicotinic, alpha 6 (neuronal); alpha(alpha)6 nicotinic acetylcholine receptor (nAChR) subunit; cholinergic receptor, nicotinic alpha 6; cholinergic receptor, nicotinic, alpha 6 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 6; neuronal acetylcholine receptor subunit alpha-6 isoform 2 precursor; neuronal acetylcholine receptor subunit alpha-6", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); alcohol use disorder (Disease Ontology:DOID:1574); cocaine abuse (Disease Ontology:DOID:809)", "pathway": " (hsa:8973); (R-HSA-629594); (R-HSA-629597)", "pathway_count": 3, "publication_count": 29, "publication_id_list": "10945867;11237011;12810063;16835356;18055561;19059502;24397554;26811146;27344019;28228285;28832583;28834231;28851948;28904123;29393594;29786170;30315122;30429286;30524438;30784271;31844290;32357974;33298915;33633747;33912179;34087483;34932366;37680128;8906617", "class_list": "", "function": "CHRNA6 is associated with subjective responses to tobacco. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (Probable). CHRNA6 forms pentameric channels with CHRNB2, CHRNB3 and CHRNA4 that exhibit high sensitivity to ACh and nicotine and are predominantly expressed in only a few brain areas, including dopaminergic neurons, norepirephrine neurons and cells of the visual system (PubMed:16835356). nAChrs containing CHRNA6 subunits mediate endogenous cholinergic modulation of dopamine and gamma-aminobutyric acid (GABA) release in response to nicotine at nerve terminals., [UniProtKB, PubMed, UniProtKB]; Involvement of CHRNA6 in the Immune Response in Lung Squamous Cell Carcinoma and its Potential as a Drug Target for the Disease., [RefSeq, PubMed]; This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010]., [RefSeq]; This study is the first showing that CHRNB3/A6 are highly associated with nicotine dependence in a large Chinese Han sample. 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": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R8V4;B4DQH1", "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:0015464 acetylcholine receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0034703 cation channel complex;GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0045202 synapse;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007271 synaptic transmission, cholinergic;GO:0007274 neuromuscular synaptic transmission;GO:0035094 response to nicotine;GO:0035095 behavioral response to nicotine", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q15825-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BR61-1", "uniprot_id": [ { "id": "ACBD6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BR61", "type": "external" } ], "mass": 31151.0, "length": 282, "protein_name": "Acyl-CoA-binding domain-containing protein 6", "gene_name": "ACBD6", "organism": "Human", "refseq_name": "acyl-CoA-binding domain-containing protein 6", "refseq_ac": [ { "id": "NP_115736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115736", "type": "external" } ], "gene_names_uniprotkb": "ACBD6", "gene_names_refseq": "ACBD6; NEDPM", "protein_names_uniprotkb": "Acyl-CoA-binding domain-containing protein 6", "protein_names_refseq": "acyl-CoA-binding domain-containing protein 6; acyl-Coenzyme A binding domain containing 6", "tax_id": 9606, "disease": "neurodevelopmental disorder with progressive movement abnormalities (MONDO:MONDO:0968976)", "pathway": " (hsa:84320); (R-HSA-77289)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "11237011;11696000;12882974;15638818;16423998;16934754;16940157;17762044;17953517;18268358;18669648;19170545;20068231;20338778;20470824;21237683;22465940;22586271;22871024;23700546;23901139;24080521;24366607;24714562;24715725;24732803;25002576;25418920;25576301;25802875;26290611;26621918;26728094;26992070;27920218;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29642183;29769354;29786170;30429286;30524438;30642881;30779550;30833945;31222486;31530632;31844290;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347;36457943;36551154;37938771;37951597;4721607;8241273", "class_list": "", "function": "ACBD6 gene, related to acyl-CoA binding, might play momentous roles in the initiation and development of consecutive Trauma-Induced Sepsis., [RefSeq, PubMed]; ACBD6 is a modular protein that carries an acyl-CoA binding domain at its N terminus and two ankyrin motifs at its C terminus., [RefSeq, PubMed]; ACBD6 proteins promote N-myristoylation in mammalian cells, [RefSeq, PubMed]; Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders., [RefSeq, PubMed]; Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids. Plays a role in protein N-myristoylation (PubMed:37951597)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Dual Role of ACBD6 in the Acylation Remodeling of Lipids and Proteins. Publication Status: Online-Only, [RefSeq, PubMed]; Findings provide evidence that the binding properties of ACBD6 are adapted to prevent its constant saturation by the very abundant C16:0-CoA and protect membrane systems., [RefSeq, PubMed]; Ligand binding properties of the NMT/ACBD6 complex can explain how the NMT reaction can proceed in the presence of the very abundant competitive substrate, C(16)-CoA., [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": 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": 0, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding;GO:0000062 fatty-acyl-CoA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9BR61-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBW9-1", "uniprot_id": [ { "id": "AGRL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBW9", "type": "external" } ], "mass": 77811.0, "length": 690, "protein_name": "Adhesion G protein-coupled receptor L4", "gene_name": "ADGRL4", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor L4 precursor", "refseq_ac": [ { "id": "NP_071442", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071442", "type": "external" } ], "gene_names_uniprotkb": "ADGRL4; ELTD1; ETL; PRO228", "gene_names_refseq": "ADGRL4; ELTD1; ETL; KPG_003", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor L4; EGF, latrophilin and seven transmembrane domain-containing protein 1; EGF-TM7-latrophilin-related protein; ETL protein", "protein_names_refseq": "EGF, latrophilin and seven transmembrane domain containing 1; EGF, latrophilin and seven transmembrane domain-containing protein 1; EGF-TM7-latrophilin-related protein; adhesion G protein-coupled receptor L4 precursor", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); glioblastoma (Disease Ontology:DOID:3068)", "pathway": " (hsa:64123)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11050079;11237011;12975309;16335952;18519829;23871637;25713288;27862975;29391424;29557506;30429286;31154438;31848261;32157095;33893326;34347079;34348993;34411563;34421349;34681953;35051231;35580925;36284347;37074911;37938771", "class_list": "", "function": "ADGRL4/ELTD1 Expression in Breast Cancer Cells Induces Vascular Normalization and Immune Suppression., [RefSeq, PubMed]; ELTD1 Activation Induces an Endothelial-EMT Transition to a Myofibroblast Phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; ELTD1 deletion reduces vascular abnormality and improves T-cell recruitment after PD-1 blockade in glioma., [RefSeq, PubMed]; ELTD1 promotes invasion and metastasis by activating MMP2 in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated expression of the adhesion GPCR ADGRL4/ELTD1 promotes endothelial sprouting angiogenesis without activating canonical GPCR signalling. Publication Status: Online-Only, [RefSeq, PubMed]; Endothelial orphan receptor that acts as a key regulator of angiogenesis., [UniProtKB, PubMed]; Genes such as ELTD1 on chromosome 1, in addition to genes on chromosomes 4 (eg, GABRA2) and 6 (eg, CNR1), may be associated with the genetic risk for cannabis use disorders., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 59, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 31, "disease_count": 3, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B1AR71;Q5KU34", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9HBW9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61221-1", "uniprot_id": [ { "id": "ABCE1_HUMAN", "url": "https://www.uniprot.org/uniprot/P61221", "type": "external" } ], "mass": 67314.0, "length": 599, "protein_name": "ATP-binding cassette sub-family E member 1", "gene_name": "ABCE1", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family E member 1", "refseq_ac": [ { "id": "NP_001035809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035809", "type": "external" } ], "gene_names_uniprotkb": "ABCE1; RLI; RNASEL1; RNASELI; RNS4I; SW-cl.40", "gene_names_refseq": "ABC38; ABCE1; OABP; RLI1; RLI; RNASEL1; RNASELI; RNS4I", "protein_names_uniprotkb": "ATP-binding cassette sub-family E member 1; 2'-5'-oligoadenylate-binding protein; 3.6.5.-; HuHP68; RNS4I; RNase L inhibitor; Ribonuclease 4 inhibitor", "protein_names_refseq": "2'-5'-oligoadenylate-binding protein; ATP-binding cassette sub-family E member 1; ATP-binding cassette, sub-family E (OABP), member 1; RNase L inhibitor 1; huHP68; ribonuclease 4 inhibitor; ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) inhibitor", "tax_id": 9606, "disease": "breast carcinoma (Disease Ontology:DOID:3459); lung adenocarcinoma (Disease Ontology:DOID:3910); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:6059); (R-HSA-8983711); (R-HSA-909733); (R-HSA-9954714)", "pathway_count": 4, "publication_count": 199, "publication_id_list": "10395669;10464285;10542297;10982844;11092454;11237011;11265282;11337497;11377645;11404376;11585831;11780123;11980899;11986302;12029096;12766484;12842042;14747530;14769151;15047845;15231837;15312780;15449939;15778442;16009940;16171819;16987978;17251292;1730654;17351669;17488105;17969444;18035202;18575461;20068230;20068231;20122402;20130243;20363976;20643137;21448132;2211721;23061660;23084743;23121362;23186163;23301498;23319625;23481700;24366607;24417533;24500209;24578532;24714562;24715725;24931123;25132172;25275129;25352621;25371710;25418920;25469497;25540362;25576301;25645385;25775560;25802875;25892109;25944354;26055709;26154972;26375851;26728094;26760998;26811146;26858407;26992070;27452731;27600516;27846572;27920218;28063628;28218747;28228285;28446606;28467828;28514659;28832583;28834231;28904123;29242379;29314611;29317506;29331515;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;29861391;30315122;30429286;30485383;30779550;30833945;31092671;31154438;31217245;31530632;31611695;31844290;31848261;31937595;32032529;32113509;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32511913;32574262;32661006;32758689;32862111;32870666;32897882;32938616;32983136;33117408;33141586;33189161;33193462;33214551;33298915;33392160;33396578;3350819;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34725712;34932366;35051231;35138101;35154160;35251023;35561310;35580925;36010968;36241641;36284347;36581221;37074911;37217939;37738929;37938771;38394889;38665916;39302247;6162102;6190010;6548414;688397;7510216;7526154;7537377;7539425;7540766;8197134;8232552;8605876;8621447;8641422;8702790;9096384;9121453;9242679;9334213;9407111;9660177;9847332;9861020;9880569", "class_list": "", "function": "(Microbial infection) May act as a chaperone for post-translational events during HIV-1 capsid assembly., [UniProtKB, PubMed]; (Microbial infection) Plays a role in the down-regulation of the 2-5A/RNASEL pathway during encephalomyocarditis virus (EMCV) and HIV-1 infections., [UniProtKB, PubMed]; ABCE1 selectively promotes HIF-1alpha transactivation of angiogenic gene expression., [RefSeq, PubMed]; Nucleoside-triphosphatase (NTPase) involved in ribosome recycling by mediating ribosome disassembly (PubMed:20122402, PubMed:21448132). Able to hydrolyze ATP, GTP, UTP and CTP (PubMed:20122402). Splits ribosomes into free 60S subunits and tRNA- and mRNA-bound 40S subunits (PubMed:20122402, PubMed:21448132). Acts either after canonical termination facilitated by release factors (ETF1/eRF1) or after recognition of stalled and vacant ribosomes by mRNA surveillance factors (PELO/Pelota) (PubMed:20122402, PubMed:21448132). Involved in the No-Go Decay (NGD) pathway: recruited to stalled ribosomes by the Pelota-HBS1L complex, and drives the disassembly of stalled ribosomes, followed by degradation of damaged mRNAs as part of the NGD pathway (PubMed:21448132). Also plays a role in quality control of translation of mitochondrial outer membrane-localized mRNA (PubMed:29861391). As part of the PINK1-regulated signaling, ubiquitinated by CNOT4 upon mitochondria damage; this modification generates polyubiquitin signals that recruit autophagy receptors to the mitochondrial outer membrane and initiate mitophagy (PubMed:29861391). RNASEL-specific protein inhibitor which antagonizes the binding of 2-5A (5'-phosphorylated 2',5'-linked oligoadenylates) to RNASEL (PubMed:9660177). Negative regulator of the anti-viral effect of the interferon-regulated 2-5A/RNASEL pathway (PubMed:11585831, PubMed:9660177, PubMed:9847332)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Restoration of miR-299-3p promotes macrophage phagocytosis and suppresses malignant phenotypes in breast cancer carcinogenesis via dual-targeting CD47 and ABCE1., [RefSeq, PubMed]; The 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 OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [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, "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O88793;Q13181;Q13864;Q6NR76;Q96AL0;Q96B10;Q99K66", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "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": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005506 iron ion binding;GO:0005524 ATP binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0032790 ribosome disassembly;GO:0006415 translational termination;GO:0006417 regulation of translation;GO:0006413 translational initiation", "synthesized_glycan_count": 0, "hit_score": 20.5, "record_id": "P61221-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEB7-1", "uniprot_id": [ { "id": "ACRBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEB7", "type": "external" } ], "mass": 61359.0, "length": 543, "protein_name": "Acrosin-binding protein", "gene_name": "ACRBP", "organism": "Human", "refseq_name": "acrosin-binding protein precursor", "refseq_ac": [ { "id": "NP_115878", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115878", "type": "external" } ], "gene_names_uniprotkb": "ACRBP", "gene_names_refseq": "ACRBP; CT23; OY-TES-1; SP32", "protein_names_uniprotkb": "Acrosin-binding protein; Acrosin-binding protein, 32 kDa form, mature form; Acrosin-binding protein, 60 kDa form; CT23; Cancer/testis antigen 23; Cancer/testis antigen OY-TES-1; Proacrosin-binding protein sp32", "protein_names_refseq": "acrosin-binding protein precursor; acrosin-binding protein, 60 kDa form; cancer/testis antigen 23; cancer/testis antigen OY-TES-1; proacrosin binding protein sp32; testicular tissue protein Li 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:84519)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;11248070;16301813;20876808;22651134;25673160;26189257;26339343;31154438;32862383;33559934;34171305;35051231;35580925", "class_list": "", "function": "Acrosomal protein that maintains proacrosin (pro-ACR) as an enzymatically inactive zymogen in the acrosome. Involved also in the acrosome formation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; CT23 knockdown attenuating malignant behaviors of hepatocellular carcinoma cell is associated with upregulation of metallothionein 1., [RefSeq, PubMed]; Cancer-testis Antigen OY-TES-1 Expression and Immunogenicity in Hepatocellular Carcinoma., [RefSeq, PubMed]; Down regulation of OY-TES-1 increased expression of apoptosis-regulated protein caspase-3, and decreased expression of cell cycle-regulated protein cyclin E, migration/invasion-regulated proteins MMP2 and MMP9. Publication Status: Online-Only, [RefSeq, PubMed]; High ACRBP expression correlated with reduced survival time and faster relapse among ovarian cancer patients., [RefSeq, PubMed]; OY-TES-1 downregulation in liver cancer cells caused 2 opposite effects on cell proliferation: promotion by upregulating CCND2 and CDCA3, and inhibition by CD9 upregulation and NANOG downregulation. OY-TES-1 may play multiple roles in liver cancer., [RefSeq, PubMed]; OY-TES-1 was expressed in ovarian cancer (OC) tissues with a high proportion, and some of OC tissues presented OY-TES-1 expression in high level vs OC adjacent tissues., [RefSeq, PubMed]; The down-regulation of OY-TES-1 expression in bone marrow-derived mesenchymal stem cells caused cell growth inhibition, cell cycle arrest, apoptosis induction and migration ability attenuation., [RefSeq, PubMed]; The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008]., [RefSeq]; We showed identification of HLA-A24-binding OY-TES-1 peptide, TES(401-409) (KTPFVSPLL) recognized by CD8 T-cells., [RefSeq, 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, "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": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9BY87", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0001669 acrosomal vesicle;GO:0002080 acrosomal membrane", "go_biological_process": "GO:0009566 fertilization;GO:0007286 spermatid development;GO:0001675 acrosome assembly", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8NEB7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5I7T1-1", "uniprot_id": [ { "id": "AG10B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5I7T1", "type": "external" } ], "mass": 55448.0, "length": 473, "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "organism": "Human", "refseq_name": "dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B isoform 1", "refseq_ac": [ { "id": "NP_001013642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013642", "type": "external" } ], "gene_names_uniprotkb": "ALG10B; KCR1", "gene_names_refseq": "ALG10B; ALG10; KCR1", "protein_names_uniprotkb": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B; 2.4.1.256; Alpha-1,2-glucosyltransferase ALG10-A; Alpha-2-glucosyltransferase ALG10-B; Asparagine-linked glycosylation protein 10 homolog B; Potassium channel regulator 1", "protein_names_refseq": "ALG10B, alpha-1,2-glucosyltransferase; alpha-1,2-glucosyltransferase ALG10-A; alpha-2-glucosyltransferase ALG10-B; asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase); asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B; asparagine-linked glycosylation protein 10 homolog B; dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B isoform 1; dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B; dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase; dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase; modifier of the HERG potassium channel; potassium channel regulator 1; putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase; putative alpha-1,2-glucosyltransferase ALG10-B", "tax_id": 9606, "disease": "nonsyndromic deafness (Disease Ontology:DOID:0050563); long QT syndrome 2 (Disease Ontology:DOID:0110645)", "pathway": " (hsa:144245); (R-HSA-446193)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10359825;10704531;11237011;11278778;11807558;11983712;12030331;12200473;12684507;12872255;14525949;14709599;14973778;14973782;15148656;15235028;15280551;15710750;15840742;15945070;16007612;16100110;16859551;16878994;18313027;18597486;19282279;20950623;22742743;23481700;25418920;25576301;25892735;26992070;27893789;28218747;28228285;28514659;28832583;28834231;28855257;29242379;29331515;29393594;29437277;29508533;29557506;29769354;29786170;30315122;30429286;31844290;33141586;33298915;33912179;33936100;34019948;34171305;37071726;9451016;9597543", "class_list": "glycogene;glycosyltransferase", "function": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. In the lumen of the endoplasmic reticulum, adds the third and last glucose residue from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide intermediate Glc(2)Man(9)GlcNAc(2)-PP-Dol to produce Glc(3)Man(9)GlcNAc(2)-PP-Dol., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene., [RefSeq, PubMed]; Findings suggest that KCR1 genetic variations that diminish the ability of KCR1 to protect KCNH2 from inhibition by commonly used therapeutic agents constitute a risk factor for the aLQTS., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 652, "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": "B2RPF4", "ec_number_list": [ { "id": "2.4.1.256", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.256", "type": "external" } ], "go_molecular_function": "GO:0106073 dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0098553 lumenal side of endoplasmic reticulum membrane", "go_biological_process": "GO:0006488 dolichol-linked oligosaccharide biosynthetic process;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 41, "hit_score": 6.4, "record_id": "Q5I7T1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99424-1", "uniprot_id": [ { "id": "ACOX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99424", "type": "external" } ], "mass": 76827.0, "length": 681, "protein_name": "Peroxisomal acyl-coenzyme A oxidase 2", "gene_name": "ACOX2", "organism": "Human", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 2", "refseq_ac": [ { "id": "NP_003491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003491", "type": "external" } ], "gene_names_uniprotkb": "ACOX2", "gene_names_refseq": "ACOX2; BCOX; BRCACOX; BRCOX; CBAS6; THCCox", "protein_names_uniprotkb": "Peroxisomal acyl-coenzyme A oxidase 2; 1.3.3.6; 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase; Branched-chain acyl-CoA oxidase 2; THCA-CoA oxidase; THCCox; Trihydroxycoprostanoyl-CoA oxidase", "protein_names_refseq": "3-alpha,7-alpha, 12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase; 3-alpha,7-alpha, 12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase; THCA-CoA oxidase; acyl-CoA oxidase 2, branched chain; acyl-Coenzyme A oxidase 2, branched chain; peroxisomal acyl-coenzyme A oxidase 2; peroxisomal branched chain acyl-CoA oxidase; trihydroxycoprostanoyl-CoA oxidase", "tax_id": 9606, "disease": "congenital bile acid synthesis defect 6 (Disease Ontology:DOID:0111067)", "pathway": " (hsa:8309); (R-HSA-193368); (R-HSA-389887); (R-HSA-9033241)", "pathway_count": 4, "publication_count": 111, "publication_id_list": "10022913;10051404;10092594;10479480;10486279;10562279;10655068;10673331;10749848;11060344;11060359;11067870;11101887;11158055;11237011;11546814;11673457;11781871;11931631;11980911;12456682;12559034;12562770;12578380;12679481;12717447;12885776;1400444;15060085;15099582;15545321;15599942;15858711;16385454;16756494;16854980;17007944;1708392;17726030;18083107;18359941;18712838;19197237;19208625;19584060;19632994;20178365;2019602;21554508;21976670;21980954;22002062;22057399;22371489;22747494;2351134;2384150;23963456;24235149;24275569;24865970;25016021;25538232;25576301;25854684;26086376;26138649;26220973;26344566;27597759;27647924;27884763;28521612;28611990;28765278;28787099;29287774;29393594;29557506;29971632;30379171;30429286;31154438;31844290;31848261;32488085;33414412;33968037;35051231;35580925;7508385;7649182;7719337;7790377;8034703;8387517;8824437;8858165;8902629;8943006;8991089;9089413;9090381;9090382;9090383;9271077;9539740;9653144;9660774;9668159;9837948", "class_list": "", "function": "ACOX2 is a prognostic marker and impedes the progression of hepatocellular carcinoma via PPARalpha pathway. Publication Status: Online-Only, [RefSeq, PubMed]; ACOX2, physiologically responsible for one of the stages in the degradation of branched-chain fatty acids and bile acid, may be a possible genetic risk factor linking Preeclampsia and Related Cardiovascular diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Involved in peroxisomal beta-oxidation of branched-chain fatty acids (BCFAs) and bile acids intermediates. Catalyzes the initial and rate-limiting dehydrogenation step that removes two hydrogen molecules and introduces a trans double bond between the alpha and beta carbons of the acyl CoA molecules while generating hydrogen peroxide as a by-product. Oxidizes its substrates in a stereospecific way and can only desaturate isomers carrying (2S)-methyl groups (By similarity) (PubMed:29287774). In brown adipose tissue peroxisomes, mediates beta-oxidation of monomethyl branched-chain fatty acids with iso configuration (mmBCFAs) as part of a substrate synthesis and oxidation cycle fueled by FASN-dependent de novo mmBCFA synthesis. The mmBCFA catabolism is coupled to AMPK activation and mitochondrial ATP production as a thermogenic adaptation mechanism to maintain the body temperature in cold environment (By similarity). Metabolizes multi-methyl-branched fatty acyl-CoA esters such as (2S)-pristanoyl-CoA, displaying redundancy with ACOX3 (PubMed:29287774). In the liver, mediates side-chain beta-oxidation of C27 bile acyl-CoA intermediates carrying a (25S)-methyl group to yield 24,25-trans unsaturated derivatives as part of peroxisomal bile acid synthesis pathway (PubMed:27884763, PubMed:29287774). Can oxidize straight-chain fatty acyl CoAs such as C10-CoA and C16-CoA with low efficiency (PubMed:29287774)., [UniProtKB, PubMed, UniProtKB, PubMed]; The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children. [provided by RefSeq, Mar 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, "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": 0, "reported_glycation": 0, "reported_snv": 22, "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": "A6NF16;B2R8U5", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "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": "2.3.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.42", "type": "external" }, { "id": "1.3.3.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.3.6", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "3.4.24.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.56", "type": "external" }, { "id": "1.4.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.3", "type": "external" }, { "id": "2.6.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.51", "type": "external" }, { "id": "2.6.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.44", "type": "external" }, { "id": "2.3.1.176", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.176", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "4.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.4", "type": "external" }, { "id": "2.3.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.137", "type": "external" }, { "id": "2.3.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.7", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.3.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.65", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.5.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.13", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.4.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.1", "type": "external" }, { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.3.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.38", "type": "external" }, { "id": "1.3.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.124", "type": "external" }, { "id": "1.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.3.-", "type": "external" }, { "id": "1.1.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.3.15", "type": "external" }, { "id": "1.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.1", "type": "external" }, { "id": "1.5.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.7", "type": "external" }, { "id": "5.1.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.99.4", "type": "external" }, { "id": "4.1.2.63", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.63", "type": "external" }, { "id": "1.2.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.3.5", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" } ], "go_molecular_function": "GO:0005504 fatty acid binding;GO:0042803 protein homodimerization activity;GO:0050660 flavin adenine dinucleotide binding;GO:0071949 FAD binding;GO:0033791 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0000038 very long-chain fatty acid metabolic process;GO:0006699 bile acid biosynthetic process;GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase;GO:0006635 fatty acid beta-oxidation;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q99424-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZNF0-1", "uniprot_id": [ { "id": "ACP7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZNF0", "type": "external" } ], "mass": 50480.0, "length": 438, "protein_name": "Acid phosphatase type 7", "gene_name": "ACP7", "organism": "Human", "refseq_name": "acid phosphatase type 7 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001004318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004318", "type": "external" } ], "gene_names_uniprotkb": "ACP7; PAPL1; PAPL", "gene_names_refseq": "ACP7; PAPL1; PAPL", "protein_names_uniprotkb": "Acid phosphatase type 7; 3.1.3.2; Purple acid phosphatase long form", "protein_names_refseq": "acid phosphatase type 7 isoform 1 precursor; acid phosphatase type 7; iron/zinc purple acid phosphatase-like protein; purple acid phosphatase long form 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:390928)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;16793224;23090970;24190977;25032264;33968037;35051231", "class_list": "", "function": "PAPL, IL10RB and DEPDC5 polymorphisms have an impact on progression of hepatitis B virus-related liver disease., [RefSeq, PubMed]; Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]., [RefSeq]; Putative metallophosphoesterase belonging to the purple acid phosphatase family that catalyzes the hydrolysis of phosphate esters to alcohol and phosphate under acidic conditions., [UniProtKB, UniProtKB]", "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": 3, "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": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "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": 22, "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": "B2RN68", "ec_number_list": [ { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0003993 acid phosphatase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6ZNF0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47898-1", "uniprot_id": [ { "id": "5HT5A_HUMAN", "url": "https://www.uniprot.org/uniprot/P47898", "type": "external" } ], "mass": 40255.0, "length": 357, "protein_name": "5-hydroxytryptamine receptor 5A", "gene_name": "HTR5A", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 5A", "refseq_ac": [ { "id": "NP_076917", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076917", "type": "external" } ], "gene_names_uniprotkb": "HTR5A", "gene_names_refseq": "5-HT5A; HTR5A", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 5A; 5-HT-5A; 5-HT-5; 5-HT5A; Serotonin receptor 5A", "protein_names_refseq": "5-HT-5A; 5-HT-5; 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled; 5-hydroxytryptamine receptor 5A", "tax_id": 9606, "disease": "intracranial hypertension (Disease Ontology:DOID:9428)", "pathway": " (hsa:3361); (R-HSA-390666); (R-HSA-418594)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10193663;10611634;10715164;11007482;11237011;11454652;11512051;11714892;11750183;12120503;12145108;12177684;12388666;12527336;12784105;12860470;1315531;1330647;1386736;1513320;15341484;15357957;15628665;1565658;15689356;15887956;15951850;16330560;16634148;16923326;16959974;18434541;18577758;19499624;20518729;21486038;2534964;2748346;2834384;3041384;31324691;32387766;32549758;35051231;35610220;35835867;7895773;7937899;7988681;8015379;8078486;8143856;8380639;8406495;8522988;8809227;8935801;9048968;9067310;9205951;9303561;9336327;9349523;9495870;9550290;9603189;9651336;9732398;9760039;9851589;9865521;9986723", "class_list": "", "function": "5-HT receptor agonist Valerenic Acid enhances the innate immunity signal and suppresses glioblastoma cell growth and invasion. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone and a mitogen (PubMed:35610220, PubMed:35835867, PubMed:9865521). Also functions as a receptor for ergot alkaloid derivatives and other psychoactive substances (PubMed:35835867). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:35610220, PubMed:35835867, PubMed:9865521). HTR5A is coupled to G(i)/G(o) G alpha proteins and mediates inhibitory neurotransmission: signaling inhibits adenylate cyclase activity and activates a phosphatidylinositol-calcium second messenger system that regulates the release of Ca(2+) ions from intracellular stores (PubMed:35610220, PubMed:35835867, PubMed:9865521)., [UniProtKB, PubMed, PubMed, PubMed]; The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008]., [RefSeq]; The receptor has been transiently expressed in Cos M6 cells and exhibits a pharmacological profile closely resembling the mouse and rat 5-HT5A receptors with high, specific binding for ergotamine and methiothepin., [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": 0, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q2M2D2", "ec_number_list": [], "go_molecular_function": "GO:0004993 G protein-coupled serotonin receptor activity;GO:0030594 neurotransmitter receptor activity;GO:0001586 Gi/o-coupled serotonin receptor activity;GO:0099589 serotonin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043204 perikaryon;GO:0099634 postsynaptic specialization membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0021766 hippocampus development;GO:0007198 adenylate cyclase-inhibiting serotonin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "P47898-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50052-1", "uniprot_id": [ { "id": "AGTR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P50052", "type": "external" } ], "mass": 41184.0, "length": 363, "protein_name": "Type-2 angiotensin II receptor", "gene_name": "AGTR2", "organism": "Human", "refseq_name": "type-2 angiotensin II receptor isoform 1", "refseq_ac": [ { "id": "NP_000677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000677", "type": "external" } ], "gene_names_uniprotkb": "AGTR2", "gene_names_refseq": "AGTR2; AT2; ATGR2; MRX88", "protein_names_uniprotkb": "Type-2 angiotensin II receptor; AT2 receptor; Angiotensin II type-2 receptor", "protein_names_refseq": "AT2 receptor; angiotensin II type-2 receptor; type-2 angiotensin II receptor isoform 1; type-2 angiotensin II receptor", "tax_id": 9606, "disease": "glomerulosclerosis (Disease Ontology:DOID:0050851); stroke (Disease Ontology:DOID:0051061); intellectual disability (Disease Ontology:DOID:1059); hypertension (Disease Ontology:DOID:10763); meconium aspiration syndrome (Disease Ontology:DOID:11049); dilated cardiomyopathy (Disease Ontology:DOID:12930); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); renovascular hypertension (Disease Ontology:DOID:1591); pancreatic cancer (Disease Ontology:DOID:1793); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); IgA glomerulonephritis (Disease Ontology:DOID:2986); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); renal cell carcinoma (Disease Ontology:DOID:4450); congestive heart failure (Disease Ontology:DOID:6000); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); type 2 diabetes mellitus (Disease Ontology:DOID:9352); vesicoureteral reflux (Disease Ontology:DOID:9620); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:186); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 122, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11322507;11385580;11457843;11562423;11683476;11773063;12089445;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15123706;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;23446738;23690594;23871722;24906252;2534964;2649896;2748346;27496565;2834384;28379944;29967536;31530632;31899086;3202875;32669569;3366244;3525564;36226438;37455310;37823205;38061417;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7719706;7733925;7790004;7797512;7905839;7937899;7945336;7999093;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "A functional mechanism for a non-coding variant near AGTR2 associated with risk for preterm birth. Publication Status: Online-Only, [RefSeq, PubMed]; Angiotensin II type 2 receptor prevents extracellular matrix accumulation in human peritoneal mesothelial cell by ameliorating lipid disorder via LOX-1 suppression., [RefSeq, PubMed]; Angiotensin II type 2 receptor-mediated dilation is greater in the cutaneous microvasculature of premenopausal women compared with men. Erratum:[J Appl Physiol (1985). 2024 Feb 1;136(2):399. doi: 10.1152/japplphysiol.00382.2023_COR. PMID: 38324362], [RefSeq, PubMed]; Receptor for angiotensin II, a vasoconstricting peptide (PubMed:28379944, PubMed:29967536, PubMed:31899086, PubMed:8185599). Primarily signals via a non-canonical G protein- and beta-arrestin independent pathways (PubMed:28379944). Cooperates with MTUS1 to inhibit ERK2 activation and cell proliferation (PubMed:15123706)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Regulation of vascular angiotensin II type 1 and type 2 receptor and angiotensin-(1-7)/MasR signaling in normal and hypertensive pregnancy. Review article, [RefSeq, PubMed]; The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus and in neonates, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked cognitive disability. Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) and SARS-CoV-2 infection results in down-regulation of angiotensin converting enzyme-2 (ACE2) receptors, the effects of which, triggers serious inflammatory lesions in the tissues involved, primarily in the lungs. The inflammatory reaction appears to be mediated by angiotensin II derivatives, including the angiotensin AT2 receptor which has been found to be upregulated in bronchoalveolar lavage samples from Coronavirus disease 2019 (COVID19) patients. [provided by RefSeq, Jul 2020]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "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": 12, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 20, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2R9V1;Q13016;Q6FGY7", "ec_number_list": [], "go_molecular_function": "GO:0048019 receptor antagonist activity;GO:0004945 angiotensin type II receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0001974 blood vessel remodeling;GO:0008217 regulation of blood pressure", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P50052-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63267-1", "uniprot_id": [ { "id": "ACTH_HUMAN", "url": "https://www.uniprot.org/uniprot/P63267", "type": "external" } ], "mass": 41877.0, "length": 376, "protein_name": "Actin, gamma-enteric smooth muscle", "gene_name": "ACTG2", "organism": "Human", "refseq_name": "actin, gamma-enteric smooth muscle isoform 2 precursor", "refseq_ac": [ { "id": "NP_001186822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186822", "type": "external" } ], "gene_names_uniprotkb": "ACTG2; ACTA3; ACTL3; ACTSG", "gene_names_refseq": "ACTA3; ACTE; ACTG2; ACTL3; ACTSG; ACT; MMIHS5; VSCM1; VSCM", "protein_names_uniprotkb": "Actin, gamma-enteric smooth muscle; 3.6.4.-; Alpha-actin-3; Gamma-2-actin; Smooth muscle gamma-actin", "protein_names_refseq": "actin, gamma 2, smooth muscle, enteric; actin, gamma-enteric smooth muscle isoform 2 precursor; actin, gamma-enteric smooth muscle; actin-like protein; alpha-actin-3", "tax_id": 9606, "disease": "megacystis-microcolon-intestinal hypoperistalsis syndrome (Disease Ontology:DOID:0060610); Baraitser-Winter syndrome 1 (Disease Ontology:DOID:0081112); autosomal dominant nonsyndromic deafness 20 (Disease Ontology:DOID:0110550); intestinal atresia (Disease Ontology:DOID:10486); Moyamoya disease (Disease Ontology:DOID:13099); patent ductus arteriosus (Disease Ontology:DOID:13832); thoracic aortic aneurysm (Disease Ontology:DOID:14004); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); alcohol use disorder (Disease Ontology:DOID:1574); megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MONDO:MONDO:0030329)", "pathway": " (hsa:72); (R-HSA-445355); (R-HSA-9764561); (R-HSA-9913351); (R-HSA-9958825)", "pathway_count": 5, "publication_count": 148, "publication_id_list": "10022829;10189375;10441321;10545507;10893187;10932245;10942431;10991994;11237011;11242081;11352924;11430802;11457814;11495720;11532985;11889009;12048254;12189167;1319059;14506282;14627618;15118850;15175026;15377279;156362;16524571;17055381;1710027;17905726;18555777;18764929;18974361;19015515;1930128;19346169;19380584;19946898;20044576;20058876;20371349;2183031;22036506;22117219;22159078;22223806;22223895;22421042;22778174;22869377;22960657;23481700;2377475;23834404;2405250;24337657;24676022;24777424;24872348;2526655;25418920;25645385;25802875;26228148;26362469;26375851;26552660;26647307;26758079;27452731;27481187;27600516;2764880;27679490;27726376;28317937;28422808;28741090;28832583;29242379;29393594;29508533;29557506;29781137;29786170;30315122;30397120;30429286;30626964;31154438;31717259;31844290;31848261;31993215;32157095;32357974;32387766;32488085;3282674;32983136;33043033;33141586;33294969;33592498;33880338;33981976;34215617;34357683;34561969;35051231;35318648;35695198;36509086;37213144;37217939;3780718;37938771;38665916;38820162;7510216;7512451;7527495;7547961;7592992;7844150;7925941;8043271;8140422;8234276;8268918;8349731;8576247;8607994;8626374;8627307;8662591;8662795;8798547;8845841;8858389;9214383;9405466;9412493;9481611;9598563;9600334;9652404;9855623;9864373", "class_list": "", "function": "Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells., [UniProtKB]; Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]., [RefSeq]; Analysis of the Regulatory Effect of ACTG2 on Biological Behavior of Bladder Cancer Cells Based on Database Screening. Publication Status: Online-Only, [RefSeq, PubMed]; Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature. Review article, [RefSeq, PubMed]; Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy., [RefSeq, PubMed]; Variant in ACTG2 Causing Megacystis Microcolon Hypoperistalsis Syndrome and Severe Familial Postpartum Bleeding., [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": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7E7;B4E315;D6W5H8;E9PG30;P12718;Q504R1;Q6FI22", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005524 ATP binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0030027 lamellipodium", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0045471 response to ethanol;GO:0090131 mesenchyme migration;GO:0071354 cellular response to interleukin-6;GO:1905641 cellular response to acetaldehyde", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "P63267-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P68032-1", "uniprot_id": [ { "id": "ACTC_HUMAN", "url": "https://www.uniprot.org/uniprot/P68032", "type": "external" } ], "mass": 42019.0, "length": 377, "protein_name": "Actin, alpha cardiac muscle 1", "gene_name": "ACTC1", "organism": "Human", "refseq_name": "actin, alpha cardiac muscle 1 isoform 1", "refseq_ac": [ { "id": "NP_005150", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005150", "type": "external" } ], "gene_names_uniprotkb": "ACTC1; ACTC", "gene_names_refseq": "ACTC1; ACTC; ASD5; CMD1R; CMH11; LVNC4", "protein_names_uniprotkb": "Actin, alpha cardiac muscle 1; 3.6.4.-; Alpha-cardiac actin", "protein_names_refseq": "actin, alpha cardiac muscle 1 isoform 1", "tax_id": 9606, "disease": "Baraitser-Winter syndrome 1 (Disease Ontology:DOID:0081112); atrial heart septal defect 5 (Disease Ontology:DOID:0110110); hypertrophic cardiomyopathy 11 (Disease Ontology:DOID:0110317); dilated cardiomyopathy 1R (Disease Ontology:DOID:0110456); autosomal dominant nonsyndromic deafness 20 (Disease Ontology:DOID:0110550); intestinal atresia (Disease Ontology:DOID:10486); hypertension (Disease Ontology:DOID:10763); dilated cardiomyopathy (Disease Ontology:DOID:12930); Moyamoya disease (Disease Ontology:DOID:13099); patent ductus arteriosus (Disease Ontology:DOID:13832); thoracic aortic aneurysm (Disease Ontology:DOID:14004); nemaline myopathy (Disease Ontology:DOID:3191)", "pathway": " (hsa:70); (R-HSA-390522); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9764561); (R-HSA-9913351); (R-HSA-9958825)", "pathway_count": 7, "publication_count": 281, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10037681;10189375;10232922;10330430;10441321;10490598;10523665;10523675;10526156;10545507;10579713;10619026;10699171;10747208;10873388;10893187;10932245;10942431;10966831;11058585;11085924;11207612;11237011;11352924;11373293;11396949;11430802;11431473;11432776;11495720;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12189167;12195014;12221077;12221096;12473120;12531887;12650940;12857875;12877655;1319059;14512443;14729850;15023524;15064355;15107133;15175026;15302923;15342493;15485661;15601624;15611138;15850391;15866170;15944396;16112081;16116428;16184169;16217026;16467373;16519628;16524571;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;17077126;17198702;17562871;17702745;17765681;17804252;17905726;17932950;17942708;17947298;17976533;18158243;18218625;18403758;18555777;18764929;18802007;18829452;19015515;19346169;19494238;19605563;19635168;19673492;19713215;19946898;20030946;20044576;20101212;20371349;20400958;20591975;20628200;20660154;21148482;21351730;21373644;21454492;21565175;21699497;2183031;21865595;21936715;22036506;22096251;22117219;22159078;22223806;22298643;22305756;22673745;22911862;22992742;23200924;23255595;23271734;23434736;23572525;23673617;23870313;2405250;24086303;24128008;24259668;24335996;24352656;24933155;25211221;25576301;25673874;25704760;26228148;26371245;26529257;26853435;26887924;26992070;27145964;27216196;27481945;27862975;27986909;28112683;28196833;28317937;28584191;29146911;29493099;30315122;30397120;30573663;30626607;30626964;30779550;30833945;31105010;31217245;31222486;31530632;31848261;31871319;31937595;31998317;32157095;32161166;32203420;32502341;3282674;32897882;32938616;32983136;33043033;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34087483;34105348;34171305;34215617;34357683;34433824;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36011517;36240223;36241641;36960733;37217939;37252999;37457373;40914422;6310553;7479768;7510216;7512451;7527495;7547961;7592992;7673236;7721814;7753201;7844150;7925941;8021274;8043271;8140422;8234276;8268918;8349731;8537347;8543060;8571126;8576247;8607994;8617235;8626374;8627307;8643598;8649427;8662591;8662795;8662891;8756646;8769096;8798547;8807639;8810315;8816443;8845841;8939998;9013646;9111050;9113980;9214383;9305890;9405466;9412493;9418861;9490638;9497316;9535835;9548756;9563954;9652404;9659915;9670022;9792683;9822605;9829970;9864373", "class_list": "", "function": "Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells., [UniProtKB]; Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]., [RefSeq]; Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function., [RefSeq, PubMed]; Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac alpha-Actin (ACTC1) Gene., [RefSeq, PubMed]; Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population. Publication Status: Online-Only, [RefSeq, PubMed]; Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects. 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": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 12, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "P04270", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005524 ATP binding;GO:0016787 hydrolase activity;GO:0017022 myosin binding;GO:0000146 microfilament motor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005884 actin filament", "go_biological_process": "GO:0007015 actin filament organization;GO:0010628 positive regulation of gene expression;GO:0045471 response to ethanol;GO:0060047 heart contraction;GO:0030240 skeletal muscle thin filament assembly", "synthesized_glycan_count": 0, "hit_score": 28.7, "record_id": "P68032-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12904-1", "uniprot_id": [ { "id": "AIMP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12904", "type": "external" } ], "mass": 34353.0, "length": 312, "protein_name": "Aminoacyl tRNA synthase complex-interacting multifunctional protein 1", "gene_name": "AIMP1", "organism": "Human", "refseq_name": "aminoacyl tRNA synthase complex-interacting multifunctional protein 1 precursor", "refseq_ac": [ { "id": "NP_001135887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135887", "type": "external" } ], "gene_names_uniprotkb": "AIMP1; EMAP2; SCYE1", "gene_names_refseq": "AIMP1; EMAP2; EMAPII; HLD3; SCYE1; p43", "protein_names_uniprotkb": "Aminoacyl tRNA synthase complex-interacting multifunctional protein 1; EMAP-II; Endothelial monocyte-activating polypeptide II; Multisynthase complex auxiliary component p43; Small inducible cytokine subfamily E member 1", "protein_names_refseq": "ARS-interacting multifunctional protein 1; aminoacyl tRNA synthase complex-interacting multifunctional protein 1 precursor; aminoacyl tRNA synthase complex-interacting multifunctional protein 1; endothelial monocyte-activating polypeptide 2; endothelial-monocyte activating polypeptide II; multisynthase complex auxiliary component p43; multisynthetase complex auxiliary component p43; small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 3 (Disease Ontology:DOID:0060790); neurodegenerative disease (Disease Ontology:DOID:1289); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:9255); (R-HSA-2408522); (R-HSA-379716); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 150, "publication_id_list": "10358004;10567402;10611221;10655586;10673502;10850427;10852899;11027551;11157763;11237011;11306575;11347887;11714285;11818442;11829477;11840323;11858721;11891324;11912130;11930005;12237313;12690580;1373391;14500886;14660560;14671330;14975237;15118077;15226305;15507434;16014379;16034366;16055448;16429158;16472771;16661668;16661782;16822840;16906134;1698554;17443684;1748288;1761529;17623675;18644867;19131329;19289464;19362550;19524539;19608861;20068231;20460180;20510162;21092922;21486943;21740066;21965087;22223895;22647378;23159739;23186163;23190890;23207919;23481700;24312579;24715725;25114211;25248477;25288775;25576301;25595898;25645385;26154972;26375851;27128622;27846572;28228285;28352266;28394346;28514659;28649982;28832583;28904123;29242379;29295999;29557506;30804224;31530632;31844290;32119511;32350084;32357974;32387766;32502341;32636443;32938616;32983136;33141586;33214551;33298915;33465208;33592498;33691108;33744299;33936100;33968037;34019948;34087483;34140478;34229054;34357683;34509645;34725712;35051231;35251023;35487244;36010968;36042007;36132984;36279697;36623394;37316325;37770430;38665916;40596516;40914422;4130389;5338216;6022858;656444;7118399;7654687;7929199;7958932;8052601;8078941;8188258;8336698;8428657;8449960;9199364;9278442;9353119;9421509;9431993;9440696;9560246;9676189;9760192;9973413", "class_list": "", "function": "AIMP1 promotes multiple myeloma malignancy through interacting with ANP32A to mediate histone H3 acetylation., [RefSeq, PubMed]; Discovery of two distinct aminoacyl-tRNA synthetase complexes anchored to the Plasmodium surface tRNA import protein., [RefSeq, PubMed]; EMAP II Expression Is Increased on Peripheral Blood Cells from Non-Hodgkin Lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Endothelin-1 gene polymorphism (G8002A) and endothelial monocyte-activating polypeptide II: Role in vascular dysfunction in pediatric patients with beta-thalassemia major., [RefSeq, PubMed]; Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase (PubMed:10358004). Binds tRNA. Possesses inflammatory cytokine activity (PubMed:11306575). Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7-mediated degradation (By similarity). Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels (By similarity). Promotes dermal fibroblast proliferation and wound repair (PubMed:16472771). Regulates KDELR1-mediated retention of HSP90B1/gp96 in the endoplasmic reticulum (By similarity). Plays a role in angiogenesis by inducing endothelial cell migration at low concentrations and endothelial cell apoptosis at high concentrations (PubMed:12237313). Induces maturation of dendritic cells and monocyte cell adhesion (PubMed:11818442). Modulates endothelial cell responses by degrading HIF-1A through interaction with PSMA7 (PubMed:19362550)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Secreted aminoacyl-tRNA synthetase-interacting multifunctional protein-1 (AIMP1) is a promising predictor for the severity of acute AQP4-IgG positive neuromyelitis optica spectrum disorder., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 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, "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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KTR2;B4E1S7;Q6FG28;Q96CQ9", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0000049 tRNA binding;GO:0005125 cytokine activity;GO:0051020 GTPase binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0001525 angiogenesis;GO:0006954 inflammatory response;GO:0007267 cell-cell signaling;GO:0051607 defense response to virus;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q12904-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q495B1-5", "uniprot_id": [ { "id": "AKD1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q495B1", "type": "external" } ], "mass": 57550.0, "length": 522, "protein_name": "Ankyrin repeat and death domain-containing protein 1A", "gene_name": "ANKDD1A", "organism": "Human", "refseq_name": "ankyrin repeat and death domain-containing protein 1A", "refseq_ac": [ { "id": "NP_874362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_874362", "type": "external" } ], "gene_names_uniprotkb": "ANKDD1A", "gene_names_refseq": "ANKDD1A", "protein_names_uniprotkb": "Ankyrin repeat and death domain-containing protein 1A", "protein_names_refseq": "ankyrin repeat and death domain-containing protein 1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:348094)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "28904123;30082910;30651372;31844290;32157095;32502341;32938616;35580925", "class_list": "", "function": "ANKDD1A is a functional tumor suppressor gene, especially in the hypoxia microenvironment. ANKDD1A directly interacts with FIH1 and inhibits the transcriptional activity of HIF1alpha by upregulating FIH1. ANKDD1A decreases the half-life of HIF1alpha by upregulating FIH1, decreases glucose uptake and lactate production, inhibits glioblastoma multiforme (GBM) autophagy, and induces apoptosis in GBM cells under hypoxia, [RefSeq, PubMed]; Results provide evidence that rs34988193 is a deleterious germline variant present in ANKDD1a associated with poor outcomes of patients with low grade glioma., [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": 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": 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": "Q495B2;Q495B3;Q8N7A0;Q8NBS5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q495B1-5", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q562R1-1", "uniprot_id": [ { "id": "ACTBL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q562R1", "type": "external" } ], "mass": 42003.0, "length": 376, "protein_name": "Beta-actin-like protein 2", "gene_name": "ACTBL2", "organism": "Human", "refseq_name": "beta-actin-like protein 2", "refseq_ac": [ { "id": "NP_001017992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017992", "type": "external" } ], "gene_names_uniprotkb": "ACTBL2", "gene_names_refseq": "ACTBL2; ACT", "protein_names_uniprotkb": "Beta-actin-like protein 2; Kappa-actin", "protein_names_refseq": "actin-like protein; beta-actin-like protein 2; kappa-actin", "tax_id": 9606, "disease": "Baraitser-Winter syndrome 1 (Disease Ontology:DOID:0081112); autosomal dominant nonsyndromic deafness 20 (Disease Ontology:DOID:0110550); intestinal atresia (Disease Ontology:DOID:10486); Moyamoya disease (Disease Ontology:DOID:13099); patent ductus arteriosus (Disease Ontology:DOID:13832); thoracic aortic aneurysm (Disease Ontology:DOID:14004)", "pathway": " (hsa:345651)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;16824795;18452278;19615748;20058876;22562506;23271734;25505266;26154972;26374642;26375851;27452731;27600516;27989943;28514659;28834231;28904123;29242379;29557506;30192525;30484775;30524438;31611695;31844290;32161166;32350084;32387766;32502341;32897882;32938616;33091337;33298915;33392160;33558623;33592498;33691108;33717175;33912179;33936100;34087483;34171305;34357683;34433824;35008409;35051231;35580925;35705054;36241641;37217939;38114558;39990658;40914422", "class_list": "", "function": "-actin is downregulated in the corneal stroma of patients with KC, which may be related to reduced levels of a stabilizing factor (HuR) for beta-actin mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells., [UniProtKB]; Characterization and prognostic impact of ACTBL2-positive tumor-infiltrating leukocytes in epithelial ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Identified a novel protein, ACTBL2, which was demonstrated to be upregulated in colorectal cancer, [RefSeq, PubMed]; The origin of the expressed retrotransposed gene ACTBL2 and its influence on human melanoma cells' motility and focal adhesion 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, "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": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RPJ1;Q562R2;Q562S9;Q562X8", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0098973 structural constituent of postsynaptic actin cytoskeleton", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005884 actin filament;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007409 axonogenesis;GO:0048870 cell motility", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q562R1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T601-1", "uniprot_id": [ { "id": "AGRF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T601", "type": "external" } ], "mass": 101365.0, "length": 910, "protein_name": "Adhesion G protein-coupled receptor F1", "gene_name": "ADGRF1", "organism": "Human", "refseq_name": "adhesion G-protein coupled receptor F1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_079324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079324", "type": "external" } ], "gene_names_uniprotkb": "ADGRF1; GPR110; PGR19", "gene_names_refseq": "ADGRF1; GPR110; KPG_012; PGR19; hGPCR36", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor F1; G protein-coupled receptor 110; G protein-coupled receptor KPG_012", "protein_names_refseq": "G protein-coupled receptor 110; G protein-coupled receptor PGR19; G-protein coupled receptor KPG_012; adhesion G-protein coupled receptor F1 isoform 2 precursor; probable G-protein coupled receptor 110; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:266977)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;12435584;12679517;20149256;24715725;25713288;27759003;29769354;30779550;31530632;32144388;32488085;34110646;34211107;35051231;35418679;35580925;35690003;36127364;36284347;36716818;37074911;37120430;39894887", "class_list": "", "function": "A novel role of ADGRF1 (GPR110) in promoting cellular quiescence and chemoresistance in human epidermal growth factor receptor 2-positive breast cancer., [RefSeq, PubMed]; Adhesion G protein-coupled receptor (aGPCR) for N-docosahexaenoylethanolamine (synaptamide), an omega-3 fatty acid lipid highly enriched in the brain (PubMed:27759003, PubMed:32144388). 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:35418679, PubMed:36127364, PubMed:37120430). ADGRF1 is coupled to G(s) G proteins and mediates activation of adenylate cyclase activity (PubMed:35418679). Also able to couple to G(q), G(i) and G(12)/G(13) G proteins; additional evidence is however required to confirm this result in vivo (PubMed:36127364, PubMed:37120430). Involved in the development of neurons and cognitive function (By similarity). In liver, involved in fat accumulation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; GPR110, a receptor for synaptamide, expressed in osteoclasts negatively regulates osteoclastogenesis., [RefSeq, PubMed]", "predicted_glycosites": 9, "predicted_n_glycosites": 9, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 31, "reported_glycation": 0, "reported_snv": 75, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "Q5KU15;Q5T5Z9;Q5T600;Q86SM1;Q8IXE3;Q8IZF8;Q96DQ1;Q9H615", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;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:0031175 neuron projection development;GO:0007416 synapse assembly", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q5T601-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100100010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TYW2-1", "uniprot_id": [ { "id": "A20A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TYW2", "type": "external" } ], "mass": 94048.0, "length": 823, "protein_name": "Ankyrin repeat domain-containing protein 20A1", "gene_name": "ANKRD20A1", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 20A1", "refseq_ac": [ { "id": "NP_115626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115626", "type": "external" } ], "gene_names_uniprotkb": "ANKRD20A1; ANKRD20A", "gene_names_refseq": "ANKRD20A1; ANKRD20A", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 20A1", "protein_names_refseq": "ankyrin repeat domain 20A; ankyrin repeat domain-containing protein 20A1; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84210)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11230166;11237011;26992070;32157095;32938616;34171305;37217939", "class_list": "", "function": "", "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": 0, "reported_mutagensis": 0, "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": "Q9H0H6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q5TYW2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VUR7-1", "uniprot_id": [ { "id": "A20A3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VUR7", "type": "external" } ], "mass": 94108.0, "length": 823, "protein_name": "Putative ankyrin repeat domain-containing protein 20A3", "gene_name": "ANKRD20A3P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ANKRD20A3P; ANKRD20A3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ankyrin repeat domain-containing protein 20A3; Ankyrin repeat domain-containing protein 20A3 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "25576301;29557506;30379171;30429286", "class_list": "", "function": "", "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q5VUR7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6H8Q1-1", "uniprot_id": [ { "id": "ABLM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6H8Q1", "type": "external" } ], "mass": 67812.0, "length": 611, "protein_name": "Actin-binding LIM protein 2", "gene_name": "ABLIM2", "organism": "Human", "refseq_name": "actin-binding LIM protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001123555", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123555", "type": "external" } ], "gene_names_uniprotkb": "ABLIM2; KIAA1808", "gene_names_refseq": "ABLIM2", "protein_names_uniprotkb": "Actin-binding LIM protein 2; Actin-binding LIM protein family member 2; abLIM-2", "protein_names_refseq": "abLIM-2; actin-binding LIM protein 2 isoform 1; actin-binding LIM protein 2; testis tissue sperm-binding protein Li 35a", "tax_id": 9606, "disease": "", "pathway": " (hsa:84448); (R-HSA-418885)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10995436;11237011;11817894;12149262;15040784;15494732;15494734;15557120;15788770;15960985;17194709;18066058;18212043;18253061;18772397;23186163;25123307;25576301;26992070;27397612;28657654;28834231;29557506;31154438;32157095;32387766;32574038;33968037;34185709;35051231;35132862;35580925;39894887;40596516;8861902;9950216", "class_list": "", "function": "May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "E9PF39;Q08E71;Q19VH0;Q6H8Q0;Q6NX73;Q8N3C5;Q8N9E9;Q8N9G2;Q96JL7", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051015 actin filament binding;GO:0003779 actin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007010 cytoskeleton organization;GO:0030032 lamellipodium assembly", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q6H8Q1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUN0-1", "uniprot_id": [ { "id": "ACSM5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUN0", "type": "external" } ], "mass": 64760.0, "length": 579, "protein_name": "Acyl-coenzyme A synthetase ACSM5, mitochondrial", "gene_name": "ACSM5", "organism": "Human", "refseq_name": "acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_001311300", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311300", "type": "external" } ], "gene_names_uniprotkb": "ACSM5; MACS3", "gene_names_refseq": "ACSM5", "protein_names_uniprotkb": "Acyl-coenzyme A synthetase ACSM5, mitochondrial; 6.2.1.2; Acyl-CoA synthetase medium-chain family member 5", "protein_names_refseq": "acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 1; acyl-coenzyme A synthetase ACSM5, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:54988); (R-HSA-177128); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 40, "publication_id_list": "10220572;10434065;11237011;11581266;12616642;12654705;13741103;16258079;16837570;16858120;16943252;17482904;1783992;18077418;19836360;20877624;22674043;24715725;25840124;27351777;28677105;29557506;30379171;33392160;3342084;34593020;35051231;3705620;37957699;39069168;5013373;5773090;5862532;6777177;6838677;7206363;7802672;9144407;931988;975718", "class_list": "", "function": "Acyl-CoA Synthetase Medium-Chain Family Member 5-Mediated Fatty Acid Metabolism Dysregulation Promotes the Progression of Hepatocellular Carcinoma., [RefSeq, PubMed]; Acyl-CoA synthetase that catalyzes the ATP-dependent activation of fatty acids to their corresponding acyl-CoA thioesters, the first committed step in fatty acid metabolism (By similarity). Negatively regulates lipid accumulation via inhibition of FABP4-PPARgamma signaling (PubMed:37957699)., [UniProtKB, UniProtKB, PubMed]; Integrative analysis of genome-wide DNA methylation and single-nucleotide polymorphism identified ACSM5 as a suppressor of lumbar ligamentum flavum hypertrophy. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) 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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "Q96AV1;Q96CX8;Q9NWV3", "ec_number_list": [ { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.2", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "6.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.25", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0004321 fatty-acyl-CoA synthase activity;GO:0015645 fatty acid ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006637 acyl-CoA metabolic process;GO:0006633 fatty acid biosynthetic process;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q6NUN0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SQ3-1", "uniprot_id": [ { "id": "AGRE4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SQ3", "type": "external" } ], "mass": 50903.0, "length": 457, "protein_name": "Putative adhesion G protein-coupled receptor E4P", "gene_name": "ADGRE4P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ADGRE4P; EMR4P; EMR4; GPR127; PGR16", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative adhesion G protein-coupled receptor E4P; EGF-like module receptor 4; EGF-like module-containing mucin-like hormone receptor-like 4; G protein-coupled receptor 127; G protein-coupled receptor PGR16", "protein_names_refseq": "", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094)", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "12565841;12679517;12731063;16753812;24715725;25713288;28218747;29393594;31530632;33592498;37217939", "class_list": "", "function": "May mediate the cellular interaction between myeloid cells and B-cells., [UniProtKB, UniProtKB]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "Q86SP1", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q86SQ3-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SQ6-3", "uniprot_id": [ { "id": "AGRA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SQ6", "type": "external" } ], "mass": 60885.0, "length": 560, "protein_name": "Adhesion G protein-coupled receptor A1", "gene_name": "ADGRA1", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor A1 isoform 1", "refseq_ac": [ { "id": "NP_001077378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077378", "type": "external" } ], "gene_names_uniprotkb": "ADGRA1; GPR123; KIAA1828", "gene_names_refseq": "ADGRA1; GPR123", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor A1; G protein-coupled receptor 123", "protein_names_refseq": "adhesion G protein-coupled receptor A1 isoform 1; probable G-protein coupled receptor 123", "tax_id": 9606, "disease": "", "pathway": " (hsa:84435)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "12565841;12679517;17212699;17322306;18987736;19664995;25576301;25713288;28834231;33945147;36672239", "class_list": "", "function": "Adhesion GPR123 is an indicator for recurrence and prognosis in bladder cancer., [RefSeq, PubMed]; Essential Role of Adhesion GPCR, GPR123, for Human Pluripotent Stem Cells and Reprogramming towards Pluripotency. Publication Status: Online-Only, [RefSeq, PubMed]; Orphan receptor., [UniProtKB]; Studies indicate that the orthologs of GP123 in mouse and rat play a role in the regulation of neuronal signaling pathways., [RefSeq, PubMed]; This gene encodes a protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Mar 2014]., [RefSeq]", "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5HL16;A6NG50;Q5T234;Q86SN7;Q96JJ9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q86SQ6-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2K0-1", "uniprot_id": [ { "id": "ABD12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2K0", "type": "external" } ], "mass": 45097.0, "length": 398, "protein_name": "Lysophosphatidylserine lipase ABHD12", "gene_name": "ABHD12", "organism": "Human", "refseq_name": "lysophosphatidylserine lipase ABHD12 isoform a", "refseq_ac": [ { "id": "NP_001035937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035937", "type": "external" } ], "gene_names_uniprotkb": "ABHD12; C20orf22", "gene_names_refseq": "ABHD12A; ABHD12; BEM46L2; C20orf22; PHARC; dJ965G21.2; hABHD12", "protein_names_uniprotkb": "Lysophosphatidylserine lipase ABHD12; 2-arachidonoylglycerol hydrolase ABHD12; 3.1.-.-; 3.1.1.-; 3.1.1.23; Abhydrolase domain-containing protein 12; Monoacylglycerol lipase ABHD12; Oxidized phosphatidylserine lipase ABHD12; hABHD12", "protein_names_refseq": "2-arachidonoylglycerol hydrolase ABHD12; abhydrolase domain-containing protein 12; lysophosphatidylserine lipase ABHD12 isoform a; lysophosphatidylserine lipase ABHD12; monoacylglycerol lipase ABHD12; oxidized phosphatidylserine lipase ABHD12", "tax_id": 9606, "disease": "PHARC syndrome (Disease Ontology:DOID:0080181)", "pathway": " (hsa:26090); (R-HSA-426048)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10.1101/2023.09.13.557529;10348910;11237011;18096503;19126434;20797687;21418147;22938382;22969151;24027063;24697911;24715725;24879289;25290914;25743180;26811146;26992070;27600516;27846572;27890673;27920218;28467828;28904123;29242379;29351928;29393594;29493099;29557506;29571850;29741879;30237167;30420694;30429286;30484775;30524438;30643283;30720278;31844290;32157095;32350084;32366405;32387766;32462874;32938616;32983136;33571455;33717175;33912179;33968037;34019948;34087483;34171305;34223797;34573385;34932366;35051231;35251023;35580925;36010968;36241641;36284347;37938771;39123271;39894887;40596516;7295321", "class_list": "", "function": "ABHD12 plays a crucial role in cell proliferation, migration, and invasion of breast cancer cells., [RefSeq, PubMed]; After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy Publication Status: Online-Only, [RefSeq, PubMed]; Data show that the three hydrolases are genuine MAG lipases; medium-chain saturated MAGs were the best substrates for hABHD6 and hMAGL, whereas hABHD12 preferred the 1 (3)- and 2-isomers of arachidonoylglycerol., [RefSeq, PubMed]; Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome., [RefSeq, PubMed]; Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants. Publication Status: Online-Only, [RefSeq, PubMed]; Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes. Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system. Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal. Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways. Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC., [RefSeq, PubMed]; Mutations in the ABHD12 gene cause polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract disease., [RefSeq, PubMed]; The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NED4;A6NJ90;A8K450;B4DE71;Q5T710;Q5T711;Q96CR1;Q9BX05;Q9NPX7;Q9UFV6", "ec_number_list": [ { "id": "3.5.1.99", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.99", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.1", "type": "external" }, { "id": "3.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.56", "type": "external" }, { "id": "3.1.1.84", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.84", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.3.2.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.9", "type": "external" }, { "id": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.26", "type": "external" }, { "id": "3.1.1.111", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.111", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.4.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.38", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.1", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" } ], "go_molecular_function": "GO:0004620 phospholipase activity;GO:0047372 monoacylglycerol lipase activity;GO:0004622 phosphatidylcholine lysophospholipase activity;GO:0008474 palmitoyl-(protein) hydrolase activity;GO:0120560 phosphatidylserine lysophospholipase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0032281 AMPA glutamate receptor complex;GO:0032839 dendrite cytoplasm", "go_biological_process": "GO:0009395 phospholipid catabolic process;GO:0046464 acylglycerol catabolic process;GO:0052651 monoacylglycerol catabolic process;GO:0006660 phosphatidylserine catabolic process;GO:0046475 glycerophospholipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q8N2K0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6N7-1", "uniprot_id": [ { "id": "ACBD7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6N7", "type": "external" } ], "mass": 9790.0, "length": 88, "protein_name": "Acyl-CoA-binding domain-containing protein 7", "gene_name": "ACBD7", "organism": "Human", "refseq_name": "acyl-CoA-binding domain-containing protein 7", "refseq_ac": [ { "id": "NP_001034933", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034933", "type": "external" } ], "gene_names_uniprotkb": "ACBD7", "gene_names_refseq": "ACBD7; bA455B2.2", "protein_names_uniprotkb": "Acyl-CoA-binding domain-containing protein 7", "protein_names_refseq": "acyl-CoA-binding domain-containing protein 7; acyl-Coenzyme A binding domain containing 7", "tax_id": 9606, "disease": "cardiovascular system disease (Disease Ontology:DOID:1287)", "pathway": " (hsa:414149); (R-HSA-77289)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11696000;12882974;15638818;16423998;16934754;16940157;17762044;17953517;18268358;19170545;20305658;20338778;20470824;21237683;22465940;22586271;22871024;23700546;23901139;24080521;24732803;25002576;26290611;27846572;27920218;29557506;4721607;8241273", "class_list": "", "function": "Binds medium- and long-chain acyl-CoA esters., [UniProtKB]", "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "A6NCI2;B3KTG8", "ec_number_list": [], "go_molecular_function": "GO:0000062 fatty-acyl-CoA binding", "go_cellular_component": "", "go_biological_process": "GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8N6N7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N961-1", "uniprot_id": [ { "id": "ABTB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N961", "type": "external" } ], "mass": 113656.0, "length": 1025, "protein_name": "Ankyrin repeat and BTB/POZ domain-containing protein 2", "gene_name": "ABTB2", "organism": "Human", "refseq_name": "ankyrin repeat and BTB/POZ domain-containing protein 2", "refseq_ac": [ { "id": "NP_665803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_665803", "type": "external" } ], "gene_names_uniprotkb": "ABTB2", "gene_names_refseq": "ABTB2A; ABTB2; BTBD22; CCA3", "protein_names_uniprotkb": "Ankyrin repeat and BTB/POZ domain-containing protein 2", "protein_names_refseq": "ankyrin repeat and BTB (POZ) domain containing 2; ankyrin repeat and BTB/POZ domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:25841)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "25576301;25645385;27862975;28832583;29393594;29508533;29557506;30484775;30833945;31844290;32157095;32387766;32488085;32502341;32938616;33592498;33968037;34087483;34171305;34509645;35051231;36010968;36241641;38253038", "class_list": "", "function": "May be involved in the initiation of hepatocyte growth., [UniProtKB]", "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "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": "A8K6S9;E9PRW7;Q52LD6;Q6MZW4;Q8NB44", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8N961-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NC06-1", "uniprot_id": [ { "id": "ACBD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NC06", "type": "external" } ], "mass": 30308.0, "length": 268, "protein_name": "Acyl-CoA-binding domain-containing protein 4", "gene_name": "ACBD4", "organism": "Human", "refseq_name": "acyl-CoA-binding domain-containing protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001129177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129177", "type": "external" } ], "gene_names_uniprotkb": "ACBD4; HMFT0700", "gene_names_refseq": "ACBD4; HMFT0700", "protein_names_uniprotkb": "Acyl-CoA-binding domain-containing protein 4", "protein_names_refseq": "acyl-CoA-binding domain-containing protein 4 isoform 2; acyl-CoA-binding domain-containing protein 4; acyl-Coenzyme A binding domain containing 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:79777); (R-HSA-390918)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10777549;11237011;11415433;15221005;16185196;18799520;20934997;21045733;23481700;24275569;24535825;24715725;24905344;26154972;28463579;30315122;31844290;32938616;32983136;33298915;33717175;34171305;34561969;35051231;37414147", "class_list": "", "function": "Acyl-CoA binding domain protein 4 (ACBD4) as a tail-anchored peroxisomal membrane protein which interacts with the endoplasmic reticulum (ER) protein, vesicle-associated membrane protein-associated protein-B (VAPB) to promote peroxisome-ER associations., [RefSeq, PubMed]; Binds medium- and long-chain acyl-CoA esters and may function as an intracellular carrier of acyl-CoA esters., [UniProtKB]; Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism., [RefSeq, PubMed]; Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 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, "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": 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": "D3DX64;Q8IUT1;Q9H8Q4", "ec_number_list": [], "go_molecular_function": "GO:0000062 fatty-acyl-CoA binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8NC06-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WU67-1", "uniprot_id": [ { "id": "ABHD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WU67", "type": "external" } ], "mass": 46009.0, "length": 409, "protein_name": "Phospholipase ABHD3", "gene_name": "ABHD3", "organism": "Human", "refseq_name": "phospholipase ABHD3 isoform 2", "refseq_ac": [ { "id": "NP_001295185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295185", "type": "external" } ], "gene_names_uniprotkb": "ABHD3", "gene_names_refseq": "ABHD3; LABH3", "protein_names_uniprotkb": "Phospholipase ABHD3; 3.1.1.32; 3.1.1.4; Abhydrolase domain-containing protein 3", "protein_names_refseq": "abhydrolase domain-containing protein 3; alpha/beta hydrolase domain containing protein 3; lung alpha/beta hydrolase 3; phospholipase ABHD3 isoform 2; phospholipase ABHD3", "tax_id": 9606, "disease": "", "pathway": " (hsa:171586); (R-HSA-1483191)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10100195;10191259;10677542;10893425;11068039;11237011;11420179;11698453;12055623;12216837;12221122;14973250;15175005;15715662;15911624;17007874;17158099;17561512;18694939;18991276;19915674;20338778;21926997;23328280;23481700;23901139;24715725;24732803;24828044;25576301;25892735;26005868;26048993;26945070;26992070;27846572;27920218;28218747;28228285;28821867;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29786170;29789417;30315122;30410026;30484775;3057511;30779550;31154438;31844290;32161166;32357974;32387766;32488085;32938616;32983136;33043033;33298915;33392160;33537174;33691108;33912179;33936100;33968037;34185709;34509645;35051231;35561310;36010968;36215666;36241641;36581221;9593753", "class_list": "", "function": "Phospholipase that may play a role in phospholipids remodeling. May selectively cleave myristate (C14)-containing phosphatidylcholines through its predominant phospholipase 1 activity, cleaving preferentially acyl groups in sn1 position. In parallel, may have a minor phospholipase 2 activity acting on acyl groups in position sn2. In addition to (C14)-containing phosphatidylcholines, may also act on other medium-chain-containing and oxidatively truncated phospholipids., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [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, "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": 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": "B0YIV0;B7Z5C2;O43411", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.34", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.1.111", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.111", "type": "external" }, { "id": "3.1.1.118", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.118", "type": "external" }, { "id": "2.3.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.149", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0047372 monoacylglycerol lipase activity;GO:0004623 phospholipase A2 activity;GO:0008970 phospholipase A1 activity;GO:0008126 acetylesterase activity;GO:0052689 carboxylic ester hydrolase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006656 phosphatidylcholine biosynthetic process;GO:0046470 phosphatidylcholine metabolic process;GO:0051793 medium-chain fatty acid catabolic process;GO:0051792 medium-chain fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q8WU67-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969T7-1", "uniprot_id": [ { "id": "5NT3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969T7", "type": "external" } ], "mass": 34389.0, "length": 300, "protein_name": "7-methylguanosine phosphate-specific 5'-nucleotidase", "gene_name": "NT5C3B", "organism": "Human", "refseq_name": "7-methylguanosine phosphate-specific 5'-nucleotidase", "refseq_ac": [ { "id": "NP_443167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443167", "type": "external" } ], "gene_names_uniprotkb": "NT5C3B; NT5C3L", "gene_names_refseq": "CNIIIL; NT5C3B; NT5C3L; cN-IIIB", "protein_names_uniprotkb": "7-methylguanosine phosphate-specific 5'-nucleotidase; 3.1.3.5; 3.1.3.91; 7-methylguanosine nucleotidase; Cytosolic 5'-nucleotidase 3B; Cytosolic 5'-nucleotidase III-like protein; N(7)-methylguanylate 5'-phosphatase; cN-III-like protein", "protein_names_refseq": "5'-nucleotidase, cytosolic III-like; 7-methylguanosine nucleotidase; 7-methylguanosine phosphate-specific 5'-nucleotidase; N(7)-methylguanylate 5'-phosphatase; cN-III-like protein; cytosolic 5'-nucleotidase 3B; cytosolic 5'-nucleotidase III-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:115024); (R-HSA-429958)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "11237011;11283721;14749774;15068804;15231747;15273322;15475613;15769464;16141059;17174896;17245413;17545563;18441014;19060886;19225159;19239894;19608861;23223233;23481700;24603684;25517131;25576301;25645385;26154972;26992070;28228285;28446606;28904123;29393594;29557506;30379171;31154438;31844290;32161166;32350084;32357974;32387766;32488085;32983136;33298915;33691108;33968037;34357683;34509645;35494241;35580925;36010968", "class_list": "", "function": "NT5C3B is involved in airway wall thickening and thereby with airway obstruction., [RefSeq, PubMed]; Specifically hydrolyzes 7-methylguanosine monophosphate (m(7)GMP) to 7-methylguanosine and inorganic phosphate (PubMed:23223233, PubMed:24603684). The specific activity for m(7)GMP may protect cells against undesired salvage of m(7)GMP and its incorporation into nucleic acids (PubMed:23223233). Also has weak activity for CMP (PubMed:23223233, PubMed:24603684). UMP and purine nucleotides are poor substrates (PubMed:23223233)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "A8MWB9;C9JKC4;Q7L3B7", "ec_number_list": [ { "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": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.91", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.91", "type": "external" }, { "id": "3.1.3.89", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.89", "type": "external" }, { "id": "3.1.3.99", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.99", "type": "external" }, { "id": "3.1.3.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.35", "type": "external" }, { "id": "2.7.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.77", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0000166 nucleotide binding;GO:0008253 5'-nucleotidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0009117 nucleotide metabolic process;GO:0000288 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q969T7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96P50-3", "uniprot_id": [ { "id": "ACAP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96P50", "type": "external" } ], "mass": 92495.0, "length": 834, "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3", "gene_name": "ACAP3", "organism": "Human", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3", "refseq_ac": [ { "id": "NP_085152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085152", "type": "external" } ], "gene_names_uniprotkb": "ACAP3; CENTB5; KIAA1716", "gene_names_refseq": "ACAP3; CENTB5", "protein_names_uniprotkb": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3; Centaurin-beta-5; Cnt-b5", "protein_names_refseq": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3; centaurin-beta-5; cnt-b5", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:116983)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "16964243;19548526;19651622;19913121;20628086;24715725;25418920;25576301;25892735;28218747;28228285;28904123;29242379;29393594;29437277;30429286;30524438;31092671;31844290;31848261;32157095;32357974;32387766;32938616;32983136;33276684;33592498;33633747;33912179;33968037;34087483;34509645;35051231;35580925;36010968;38838015;39098591", "class_list": "", "function": "ACAP3 negatively regulated by HDAC2 inhibits the malignant development of papillary thyroid carcinoma cells., [RefSeq, PubMed]; GTPase-activating protein for the ADP ribosylation factor family., [UniProtKB]; Length Polymorphism and Methylation Status of UPS29 Minisatellite of the ACAP3 Gene as Molecular Biomarker of Epilepsy. Sex Differences in Seizure Types and Symptoms. Publication Status: Online-Only, [RefSeq, PubMed]; Minisatellite locus UPS29 can regulate an activity of CENTB5, SCNN1D and ACOT7 in nervous system cells., [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]", "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": 0, "reported_glycation": 0, "reported_snv": 21, "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": "B1AMF5;Q5TA42;Q5TA43;Q86UT3;Q9BSR9;Q9C0E7", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0030426 growth cone", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q96P50-3", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUQ8-1", "uniprot_id": [ { "id": "ABCF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUQ8", "type": "external" } ], "mass": 79745.0, "length": 709, "protein_name": "ATP-binding cassette sub-family F member 3", "gene_name": "ABCF3", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family F member 3 isoform 1", "refseq_ac": [ { "id": "NP_060828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060828", "type": "external" } ], "gene_names_uniprotkb": "ABCF3", "gene_names_refseq": "ABCF3; EST201864", "protein_names_uniprotkb": "ATP-binding cassette sub-family F member 3", "protein_names_refseq": "ATP-binding cassette sub-family F member 3 isoform 1; ATP-binding cassette sub-family F member 3; ATP-binding cassette, sub-family F (GCN20), member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:55324)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18669648;20068231;22223895;22424782;22544926;23186163;23481700;24052230;24397554;24714562;24715725;25418920;25576301;25645385;26154972;26375851;26728094;26768311;26811146;26929215;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28228285;28510447;28514659;28832583;28834231;28860189;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30484775;30524438;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;40914422", "class_list": "", "function": "Displays an antiviral effect against flaviviruses such as west Nile virus (WNV) in the presence of OAS1B., [UniProtKB]; HABCF3 positively regulates cell proliferation, at least partially through the interaction with a tumor protein D52 protein family member: TPD52L2., [RefSeq, PubMed]; This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. The protein encoded by this gene displays antiviral effect against flaviviruses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K241;Q86UA2;Q8NAN1;Q96GS8;Q9H7A8", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9NUQ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UG63-1", "uniprot_id": [ { "id": "ABCF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UG63", "type": "external" } ], "mass": 71290.0, "length": 623, "protein_name": "ATP-binding cassette sub-family F member 2", "gene_name": "ABCF2", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family F member 2", "refseq_ac": [ { "id": "NP_009120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009120", "type": "external" } ], "gene_names_uniprotkb": "ABCF2; HUSSY-18", "gene_names_refseq": "ABC28; ABCF2; EST133090; HUSSY-18; HUSSY18", "protein_names_uniprotkb": "ATP-binding cassette sub-family F member 2; Iron-inhibited ABC transporter 2", "protein_names_refseq": "ABC-type transport protein; ATP-binding cassette sub-family F member 2; ATP-binding cassette, sub-family F (GCN20), member 2; iron-inhibited ABC transporter 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10061); (hsa:114483834); (R-HSA-9818032)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "10.1101/2023.09.13.557529;10944468;11124703;11237011;11875071;15104674;17287340;19608861;20068231;20112406;20682644;21209280;22252987;22424782;22544926;22898188;23186163;23481700;23667609;24366607;24397554;24715725;25349122;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28112439;28228285;28467828;28510447;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30429286;30484775;30524438;30779550;30833945;31020640;31092671;31154438;31217245;31222486;31530632;31771235;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34932366;35051231;35251023;35318648;35412955;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38665916;40596516", "class_list": "", "function": "Circular RNA Eps15-homology domain-containing protein 2 induce resistance of renal cell carcinoma to sunitinib via microRNA-4731-5p/ABCF2 axis., [RefSeq, PubMed]; Overexpression of ABCF2 suppressed RVD., [RefSeq, PubMed]; The NRF2-overexpressing cell line, containing high levels of ABCF2, was more resistant to cisplatin-induced apoptosis compared to its control ovarian cancer cell line; whereas the NRF2 knockdown cell line with low levels of ABCF2, was more sensitive to cisplatin treatment than its control cell line., [RefSeq, PubMed]; This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Mar 2019]., [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": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O60864;Q75MJ0;Q75MJ1;Q96TE8", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q9UG63-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGM1-1", "uniprot_id": [ { "id": "ACHA9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGM1", "type": "external" } ], "mass": 54807.0, "length": 479, "protein_name": "Neuronal acetylcholine receptor subunit alpha-9", "gene_name": "CHRNA9", "organism": "Human", "refseq_name": "neuronal acetylcholine receptor subunit alpha-9 precursor", "refseq_ac": [ { "id": "NP_060051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060051", "type": "external" } ], "gene_names_uniprotkb": "CHRNA9; NACHRA9", "gene_names_refseq": "CHRNA9; HSA243342; NACHRA9", "protein_names_uniprotkb": "Neuronal acetylcholine receptor subunit alpha-9; NACHR alpha-9; Nicotinic acetylcholine receptor subunit alpha-9", "protein_names_refseq": "NACHR alpha 9; acetylcholine receptor, neuronal nicotinic, alpha-9 subunit; cholinergic receptor, nicotinic alpha 9; cholinergic receptor, nicotinic, alpha 9 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 9; neuronal acetylcholine receptor protein, alpha-9 subunit; neuronal acetylcholine receptor subunit alpha-9 precursor; nicotinic acetylcholine receptor subunit alpha 9", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); lung small cell carcinoma (Disease Ontology:DOID:5409)", "pathway": " (hsa:55584); (R-HSA-629594); (R-HSA-9667769)", "pathway_count": 3, "publication_count": 22, "publication_id_list": "10945867;11021840;11752216;12697997;12810063;12860975;15531379;18723036;19059502;22774872;25282151;25418920;27349288;28223528;28408300;28662295;30484775;31844290;32161166;32929005;34561969;36215666", "class_list": "", "function": "Behavioural and physiological stress-induced changes observed in alpha9-nAChR KO mice demonstrate a novel role of the alpha9alpha10-nAChR in mounting a normal stress response. The lack of functioning alpha9alpha10-nAChRs leads to negative affective changes after a relatively short period of stress. KO mice exhibited unusual patterns of circadian activity and a dysfunction in reward seeking after a period of reduced acc..., [RefSeq, PubMed]; Chemotherapy induced cold allodynia is reduced in alpha 9 knockout mice., [RefSeq, PubMed]; Chromosome location and characterization of the CHRNA9 gene., [RefSeq, PubMed]; Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:11752216, PubMed:18723036, PubMed:25282151). Forms either homopentamers or heteropentamers with CHRNA10. Expressed in the inner ear, in sympathetic neurons and in other non-neuronal cells, such as skin keratinocytes and lymphocytes (PubMed:11752216, PubMed:18723036). nAChR formed by CHRNA9:CHRNA10 mediate central nervous system control of auditory and vestibular sensory processing. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane (PubMed:11752216, PubMed:25282151). In the ear, mediates synaptic transmission between efferent olivocochlear fibers and hair cells of the cochlea, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may protect against acoustic trauma (By similarity). May also regulate keratinocyte adhesion (PubMed:11021840, PubMed:11752216, PubMed:25282151)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Hair cell alpha9alpha10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products., [RefSeq, PubMed]; Phosphocholine inhibits ion-channel function of ATP receptor P2X7 in monocytic cells via nAChR containing alpha9 and alpha10 subunits. Publication Status: Online-Only, [RefSeq, PubMed]; REVIEW: details the history and state of the field regarding the role that alpha9-containing nAChRs may play in neuropathic pain Review article, [RefSeq, PubMed]; This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012]., [RefSeq]; Two cis-elements of the alpha9 nicotinic receptor subunit promoter control in opposite ways the basal transcriptional activity of the gene, [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": 2, "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": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q14CY7;Q4W5A2;Q9NYV2", "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:0005262 calcium channel activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0022850 serotonin-gated monoatomic cation channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0005231 excitatory extracellular ligand-gated monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0045202 synapse;GO:0043005 neuron projection;GO:0098981 cholinergic synapse", "go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0042391 regulation of membrane potential;GO:0095500 acetylcholine receptor signaling pathway;GO:0007268 chemical synaptic transmission;GO:0034220 monoatomic ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9UGM1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKU0-4", "uniprot_id": [ { "id": "ACSL6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKU0", "type": "external" } ], "mass": 77752.0, "length": 697, "protein_name": "Long-chain-fatty-acid--CoA ligase 6", "gene_name": "ACSL6", "organism": "Human", "refseq_name": "long-chain-fatty-acid--CoA ligase 6 isoform b", "refseq_ac": [ { "id": "NP_001009185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009185", "type": "external" } ], "gene_names_uniprotkb": "ACSL6; ACS2; FACL6; KIAA0837; LACS5", "gene_names_refseq": "ACS2; ACSL6; FACL6; LACS 6; LACS2; LACS5", "protein_names_uniprotkb": "Long-chain-fatty-acid--CoA ligase 6; 6.2.1.15; 6.2.1.3; Arachidonate--CoA ligase; LACS 6; Long-chain acyl-CoA synthetase 6", "protein_names_refseq": "arachidonate--CoA ligase; fatty-acid-Coenzyme A ligase, long-chain 6; long fatty acyl-CoA synthetase 2; long-chain-fatty-acid--CoA ligase 6 isoform b; long-chain-fatty-acid--CoA ligase 6", "tax_id": 9606, "disease": "leukemia (Disease Ontology:DOID:1240); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:23305); (R-HSA-75876)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10502316;10548543;10954726;11889465;12371743;12482854;12525535;12975357;15469937;16036915;16371355;16572202;16834775;17379924;17681178;17762044;18003621;18554506;18728184;19505953;19826053;20937905;21959040;22633490;24269233;28228285;28832583;28904123;29557506;30315122;31154438;31844290;32157095;33968037;34602568;35051231;35580925;38356460;39292786;8075637", "class_list": "", "function": "ACSL6-activated IL-18R1-NF-kappaB promotes IL-18-mediated tumor immune evasion and tumor progression., [RefSeq, PubMed]; Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:22633490, PubMed:24269233). Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilized exclusively for the synthesis of the brain lipid., [UniProtKB, PubMed, PubMed]; ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate Specificity of Human Long-Chain Acyl-CoA Synthetase ACSL6 Variants., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]., [RefSeq]; The t(5;12)(q23-31;p13)translocation with ETV6-ACSL6 genomic alteration rearrangement in polycythemia vera patients was reported., [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": 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": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "J3KPG3;O94924;O95829;Q108M9;Q108N0;Q4G191;Q86TN7", "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": "6.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.25", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0047676 arachidonate-CoA ligase activity", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0005778 peroxisomal membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0000038 very long-chain fatty acid metabolic process;GO:0001676 long-chain fatty acid metabolic process;GO:0006637 acyl-CoA metabolic process;GO:0035338 long-chain fatty-acyl-CoA biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9UKU0-4", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "U3KPV4-1", "uniprot_id": [ { "id": "A3LT2_HUMAN", "url": "https://www.uniprot.org/uniprot/U3KPV4", "type": "external" } ], "mass": 38754.0, "length": 340, "protein_name": "Alpha-1,3-galactosyltransferase 2", "gene_name": "A3GALT2", "organism": "Human", "refseq_name": "alpha-1,3-galactosyltransferase 2", "refseq_ac": [ { "id": "NP_001073907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073907", "type": "external" } ], "gene_names_uniprotkb": "A3GALT2; A3GALT2P; IGBS3S", "gene_names_refseq": "A3GALT2P; A3GALT2; IGB3S; IGBS3S", "protein_names_uniprotkb": "Alpha-1,3-galactosyltransferase 2; 2.4.1.87; Isoglobotriaosylceramide synthase; iGb3 synthase; iGb3S", "protein_names_refseq": "alpha 1,3-galactosyltransferase 2, pseudogene; alpha-1,3-galactosyltransferase 2; iGb3 synthase; isoglobotriaosylceramide synthase", "tax_id": 9606, "disease": "", "pathway": " (hsa:127550)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "18630988;23378701;32983136;33968037;33981976;35051231", "class_list": "glycogene;glycosyltransferase", "function": "IGb3 is unlikely to represent natural ligand for NKT cells in humans. Furthermore, the absence of iGb3 in humans implies that it is another source of foreign Galalpha(1,3)Gal xenoantigen, with obvious significance in the field of xenotransplantation., [RefSeq, PubMed]; Synthesizes the galactose-alpha(1,3)-galactose group on the glycosphingolipid isoglobotrihexosylceramide or isogloboside 3 (iGb3) by catalyzing the transfer of galactose from UDP-Galactose to its acceptor molecule Gal-beta-1,4-Glc-ceramide. Can also catalyze the addition of galactose to iGb3 itself to form polygalactose structures., [UniProtKB, 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 534, "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": "", "ec_number_list": [ { "id": "2.4.1.87", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.87", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0016757 glycosyltransferase activity;GO:0047276 N-acetyllactosaminide 3-alpha-galactosyltransferase activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0031982 vesicle;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 2, "hit_score": 0.7, "record_id": "U3KPV4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94805-1", "uniprot_id": [ { "id": "ACL6B_HUMAN", "url": "https://www.uniprot.org/uniprot/O94805", "type": "external" } ], "mass": 46877.0, "length": 426, "protein_name": "Actin-like protein 6B", "gene_name": "ACTL6B", "organism": "Human", "refseq_name": "actin-like protein 6B", "refseq_ac": [ { "id": "NP_057272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057272", "type": "external" } ], "gene_names_uniprotkb": "ACTL6B; ACTL6; BAF53B", "gene_names_refseq": "ACTL6B; ACTL6; BAF53B; DEE76; EIEE76; IDDSSAD; SMARCN2; arpNalpha", "protein_names_uniprotkb": "Actin-like protein 6B; 53 kDa BRG1-associated factor B; Actin-related protein Baf53b; ArpNalpha; BAF53B; BRG1-associated factor 53B", "protein_names_refseq": "53 kDa BRG1-associated factor B; BRG1-associated factor 53B; actin-like protein 6B; actin-related protein Baf53b; hArpN alpha", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 76 (Disease Ontology:DOID:0112212); alcohol use disorder (Disease Ontology:DOID:1574); intellectual developmental disorder with severe speech and ambulation defects (MONDO:MONDO:0032770)", "pathway": " (hsa:51412); (R-HSA-3214858); (R-HSA-8939243); (R-HSA-9934037)", "pathway_count": 4, "publication_count": 51, "publication_id_list": "10380635;11237011;11341840;11448779;11747826;11751582;11756452;12368262;15485929;16917507;17215844;17640523;17898714;18079182;18404153;18695000;19234465;20068231;20506188;20951943;21316606;21774791;22231400;22325351;22952240;23785148;25645385;26601204;27846572;28904123;29437277;29557506;30237576;30410026;30429286;30524438;30656450;31031012;31217245;31844290;32312822;32357974;32387766;32488085;33141462;35051231;36215666;36284347;37938771;9642256;9799793", "class_list": "", "function": "ACTL6B loss is thus an important cause of recessive ASD, with impaired neuron-specific chromatin repression indicated as a potential mechanism., [RefSeq, PubMed]; An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model., [RefSeq, PubMed]; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex), as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion, and is required for postmitotic neural development and dendritic outgrowth. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. ACTL6B/BAF53B is not essential for assembly of the nBAF complex but is required for targeting the complex and CREST to the promoter of genes essential for dendritic growth (By similarity). Essential for neuronal maturation and dendrite development (PubMed:31031012)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Neurons., [RefSeq, PubMed]; Provide additional genetic and clinical data on three new cases that support the pathogenic role of ACTL6B gene mutation in a syndromic form of Developmental and epileptic encephalopathies., [RefSeq, PubMed]; The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [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": 1, "reported_mutagensis": 0, "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": "A4D2D0;O75421", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0005200 structural constituent of cytoskeleton", "go_cellular_component": "GO:0005634 nucleus;GO:0016514 SWI/SNF complex;GO:0035267 NuA4 histone acetyltransferase complex;GO:0016363 nuclear matrix;GO:0071565 nBAF complex", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:2000819 regulation of nucleotide-excision repair;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "O94805-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9JUS6-1", "uniprot_id": [ { "id": "ADM5_HUMAN", "url": "https://www.uniprot.org/uniprot/C9JUS6", "type": "external" } ], "mass": 16532.0, "length": 153, "protein_name": "Putative adrenomedullin-5-like protein", "gene_name": "ADM5", "organism": "Human", "refseq_name": "putative adrenomedullin-5-like protein precursor", "refseq_ac": [ { "id": "NP_001094810", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094810", "type": "external" } ], "gene_names_uniprotkb": "ADM5; C19orf76", "gene_names_refseq": "ADM5; AM5; C19orf76", "protein_names_uniprotkb": "Putative adrenomedullin-5-like protein", "protein_names_refseq": "adrenomedullin 5 homolog (pig); putative adrenomedullin-5-like protein precursor; putative adrenomedullin-5-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:199800)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "18434369;29557506;35051231;39894887", "class_list": "", "function": "Probable non-functional remnant of adrenomedullin-5., [UniProtKB, 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0010460 positive regulation of heart rate;GO:0035809 regulation of urine volume;GO:0003073 regulation of systemic arterial blood pressure;GO:1990410 adrenomedullin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "C9JUS6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08908-1", "uniprot_id": [ { "id": "5HT1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P08908", "type": "external" } ], "mass": 46107.0, "length": 422, "protein_name": "5-hydroxytryptamine receptor 1A", "gene_name": "HTR1A", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 1A", "refseq_ac": [ { "id": "NP_000515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000515", "type": "external" } ], "gene_names_uniprotkb": "HTR1A; ADRB2RL1; ADRBRL1", "gene_names_refseq": "5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1; G-21; HTR1A; PFMCD", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 1A; 5-HT-1A; 5-HT1A; G-21; Serotonin receptor 1A", "protein_names_refseq": "5-HT1a receptor; 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled; 5-hydroxytryptamine receptor 1A; guanine nucleotide-binding regulatory protein-coupled receptor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); withdrawal disorder (Disease Ontology:DOID:0060001); Alzheimer's disease (Disease Ontology:DOID:10652); generalized anxiety disorder (Disease Ontology:DOID:14320); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); anxiety disorder (Disease Ontology:DOID:2030); substance abuse (Disease Ontology:DOID:302); panic disorder (Disease Ontology:DOID:594); cocaine abuse (Disease Ontology:DOID:809); subacute delirium (Disease Ontology:DOID:8645); vesicoureteral reflux (Disease Ontology:DOID:9620)", "pathway": " (hsa:3350); (R-HSA-390666)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10193663;10611634;10715164;11237011;11454652;11512051;11714892;11750183;12145108;12177684;12388666;12527336;12784105;12860470;1315531;1330647;1386736;15014171;1513320;15341484;15357957;15628665;1565658;15689356;15887956;16330560;1766875;18476671;19499624;20363322;20518729;20945968;21486038;21990073;22957663;23300088;26365466;3041227;3041384;3138543;31492838;33762731;34087483;35051231;35610220;37935376;37935377;37958600;37984468;38552625;38906512;39207450;7755630;7895773;8078486;8138923;8143856;8380639;8393041;8522988;8606061;8809227;8935801;9048968;9067310;9205951;9303561;9336327;9349523;9495870;9550290;9603189;9651336;9732398;9754630;9760039;9851589;9865521;9986723", "class_list": "", "function": "Association between 5-HT1A receptor C-1019G, 5-HTTLPR polymorphisms and panic disorder: a meta-analysis., [RefSeq, PubMed]; G protein-coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:22957663, PubMed:3138543, PubMed:33762731, PubMed:37935376, PubMed:37935377, PubMed:8138923, PubMed:8393041). Also functions as a receptor for various drugs and psychoactive substances (PubMed:22957663, PubMed:3138543, PubMed:33762731, PubMed:38552625, PubMed:8138923, PubMed:8393041). 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:22957663, PubMed:3138543, PubMed:33762731, PubMed:8138923, PubMed:8393041). HTR1A is coupled to G(i)/G(o) G alpha proteins and mediates inhibitory neurotransmission: signaling inhibits adenylate cyclase activity and activates a phosphatidylinositol-calcium second messenger system that regulates the release of Ca(2+) ions from intracellular stores (PubMed:33762731, PubMed:35610220). Beta-arrestin family members regulate signaling by mediating both receptor desensitization and resensitization processes (PubMed:18476671, PubMed:20363322, PubMed:20945968). Plays a role in the regulation of 5-hydroxytryptamine release and in the regulation of dopamine and 5-hydroxytryptamine metabolism (PubMed:18476671, PubMed:20363322, PubMed:20945968). Plays a role in the regulation of dopamine and 5-hydroxytryptamine levels in the brain, and thereby affects neural activity, mood and behavior (PubMed:18476671, PubMed:20363322, PubMed:20945968). Plays a role in the response to anxiogenic stimuli (PubMed:18476671, PubMed:20363322, PubMed:20945968)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Genetic variation of the 5-HT1A rs6295, 5-HT2A rs6311, and CNR1 rs1049353 and an altered endocannabinoid system in depressed patients., [RefSeq, PubMed]; Targeting 5-Hydroxytryptamine Receptor 1A in the Portal Vein to Decrease Portal Hypertension., [RefSeq, PubMed]; This gene encodes a G protein-coupled receptor for 5-hydroxytryptamine (serotonin), and belongs to the 5-hydroxytryptamine receptor subfamily. Serotonin has been implicated in a number of physiologic processes and pathologic conditions. Inactivation of this gene in mice results in behavior consistent with an increased anxiety and stress response. Mutation in the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012]., [RefSeq]; Transcriptional Regulation of the Human 5-HT1A Receptor Gene by Lithium: Role of Deaf1 and GSK3beta. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6LAE7", "ec_number_list": [], "go_molecular_function": "GO:0004993 G protein-coupled serotonin receptor activity;GO:0030594 neurotransmitter receptor activity;GO:0051378 serotonin binding;GO:0090722 receptor-receptor interaction;GO:0001586 Gi/o-coupled serotonin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0046883 regulation of hormone secretion;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P08908-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08912-1", "uniprot_id": [ { "id": "ACM5_HUMAN", "url": "https://www.uniprot.org/uniprot/P08912", "type": "external" } ], "mass": 60074.0, "length": 532, "protein_name": "Muscarinic acetylcholine receptor M5", "gene_name": "CHRM5", "organism": "Human", "refseq_name": "muscarinic acetylcholine receptor M5", "refseq_ac": [ { "id": "NP_001307846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307846", "type": "external" } ], "gene_names_uniprotkb": "CHRM5", "gene_names_refseq": "CHRM5; HM5", "protein_names_uniprotkb": "Muscarinic acetylcholine receptor M5", "protein_names_refseq": "acetylcholine receptor, muscarinic 5; muscarinic acetylcholine receptor M5", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); alcohol use disorder (Disease Ontology:DOID:1574); cannabis dependence (Disease Ontology:DOID:1849)", "pathway": " (hsa:1133); (R-HSA-390648); (R-HSA-416476)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10191087;10567430;10727532;10861009;11015615;11237011;11742120;11753430;12120503;1346637;15951850;16182515;16250841;16268778;16339447;16754659;16923326;18434541;18515384;18577758;18936096;1905813;1994002;19944766;20628086;22222704;22222706;24587893;24839481;25375131;25502048;28327676;2841328;28904123;29715053;30825602;3086311;31211471;32007426;3272174;3443095;35051231;5497851;7937899;8097411;8664309;8925880;9305846;9647869;9770463", "class_list": "", "function": "Cigarette smoking may contribute to this imbalance by affecting the polarization and survival of Th/Tregs through the up-regulation of MR3 and MR5. Publication Status: Online-Only, [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 muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover., [UniProtKB]; The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96RG7", "ec_number_list": [], "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0016907 G protein-coupled acetylcholine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0007197 adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway;GO:0007213 G protein-coupled acetylcholine receptor signaling pathway;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0001696 gastric acid secretion", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P08912-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00767-1", "uniprot_id": [ { "id": "SCD_HUMAN", "url": "https://www.uniprot.org/uniprot/O00767", "type": "external" } ], "mass": 41523.0, "length": 359, "protein_name": "Stearoyl-CoA desaturase", "gene_name": "SCD", "organism": "Human", "refseq_name": "stearoyl-CoA desaturase", "refseq_ac": [ { "id": "NP_005054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005054", "type": "external" } ], "gene_names_uniprotkb": "SCD; FADS5; SCD1; SCDOS", "gene_names_refseq": "FADS5; MSTP008; SCD1; SCDOS; SCD; hSCD1", "protein_names_uniprotkb": "Stearoyl-CoA desaturase; 1.14.19.1; Acyl-CoA desaturase; Delta(9)-desaturase; Delta-9 desaturase; Fatty acid desaturase; hSCD1", "protein_names_refseq": "acyl-CoA desaturase; delta(9)-desaturase; fatty acid desaturase; predicted protein of HQ0998; stearoyl-CoA desaturase (delta-9-desaturase); stearoyl-CoA desaturase opposite strand; stearoyl-CoA desaturase", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); hyperinsulinism (Disease Ontology:DOID:2018); carcinoma (Disease Ontology:DOID:305); restrictive cardiomyopathy (Disease Ontology:DOID:397)", "pathway": " (hsa:6319); (R-HSA-2426168); (R-HSA-75105); (R-HSA-9029558); (R-HSA-9841922)", "pathway_count": 5, "publication_count": 217, "publication_id_list": "10229681;10400691;10425206;10558993;10759542;10835357;10882139;11027271;11287605;11414710;11415448;11790787;12083769;12177166;12518032;12689621;12764144;12829629;1310260;13651131;1371749;1377680;15118850;15610069;15668256;15907797;16380219;16854592;17074750;17145369;17449569;17684114;17697703;17761950;17898086;17925399;17978863;18446792;18455495;18559965;18578522;18654640;18669648;18682402;18691976;18726356;18765284;18802091;19043829;19172745;19571038;19651622;1968462;19892738;20112406;20138239;20450493;20470824;20719759;20937905;22102020;22424782;22465940;22617051;22634312;22645359;22869377;22898188;23186163;23481700;23700546;23932781;24286864;24714562;24715725;25203508;25418920;25469497;25502872;25576301;25645385;25802875;25880248;25892735;26024233;26098317;26154972;26728094;26811146;26929215;26992070;27397612;27543614;27600516;27846572;27862975;27892461;27893789;27920218;28063628;28218747;28228285;28510447;28514659;28724430;28832583;28834231;28904123;29093164;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30410026;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33091337;33123756;33141586;33298915;33329381;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34093574;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35083852;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37938771;3805044;38619513;38665916;38823621;38849435;38897128;39408225;5810867;627544;7567999;7592729;7732023;7901201;7909540;7916016;8020941;8402897;8521497;8521498;8619637;8626466;8626488;8647822;8663599;8798690;8976377;9065481;9099716;9171241;9341199;9604010;9634482;9634533;9744270;9748295", "class_list": "glycogene", "function": "Death and the desaturase: Implication of Stearoyl-CoA desaturase-1 in the mechanisms of cell stress, apoptosis, and ferroptosis. Review article, [RefSeq, PubMed]; FADS2 confers SCD1 inhibition resistance to cancer cells by modulating the ER stress response. Publication Status: Online-Only, [RefSeq, PubMed]; Lactate drives the ESM1-SCD1 axis to inhibit the antitumor CD8[+] T-cell response by activating the Wnt/beta-catenin pathway in ovarian cancer cells and inducing cisplatin resistance., [RefSeq, PubMed]; Severity Ranking of Missense and Frameshift Genetic Variants in SCD1 by In Silico and In Vitro Functional Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Stearoyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates (PubMed:15907797, PubMed:18765284). Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA (PubMed:15907797, PubMed:18765284). Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids (PubMed:15610069). Plays an important role in lipid biosynthesis. Plays an important role in regulating the expression of genes that are involved in lipogenesis and in regulating mitochondrial fatty acid oxidation (By similarity). Plays an important role in body energy homeostasis (By similarity). Contributes to the biosynthesis of membrane phospholipids, cholesterol esters and triglycerides (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]., [RefSeq]; [Expression of SCD1 in TFE3-rRCC and its effect on proliferation and migration]., [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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 330, "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": "B2R5U0;D3DR68;Q16150;Q53GR9;Q5W037;Q5W038;Q6GSS4;Q96KF6;Q9BS07;Q9Y695", "ec_number_list": [ { "id": "1.14.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.1", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0004768 stearoyl-CoA 9-desaturase activity;GO:0016491 oxidoreductase activity;GO:0032896 palmitoyl-CoA 9-desaturase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006636 unsaturated fatty acid biosynthetic process;GO:1903966 monounsaturated fatty acid biosynthetic process;GO:0120162 positive regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 22.0, "record_id": "O00767-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02750-1", "uniprot_id": [ { "id": "A2GL_HUMAN", "url": "https://www.uniprot.org/uniprot/P02750", "type": "external" } ], "mass": 38178.0, "length": 347, "protein_name": "Leucine-rich alpha-2-glycoprotein", "gene_name": "LRG1", "organism": "Human", "refseq_name": "leucine-rich alpha-2-glycoprotein precursor", "refseq_ac": [ { "id": "NP_443204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443204", "type": "external" } ], "gene_names_uniprotkb": "LRG1; LRG", "gene_names_refseq": "HMFT1766; LRG1; LRG", "protein_names_uniprotkb": "Leucine-rich alpha-2-glycoprotein; LRG", "protein_names_refseq": "1300008B03Rik; 2310031E04Rik; leucine rich alpha 2 glycoprotein; leucine-rich alpha-2-glycoprotein precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:116844); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "37639587;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;12223515;14760718;16335952;16740002;18780401;19139490;19838169;21081667;23090970;23650620;24190977;24279413;25813380;28467828;29391424;29557506;29632711;29671580;29741879;30237853;31582665;32125861;32157095;32350084;32983136;33392160;34357683;35251023;37074911;38246328;38380988;38413424;3856868;38898137;39033404;8672555;8692836", "class_list": "", "function": "CDNA clones for human leucine-rich alpha2-glycoprotein were isolated. LRG expression was up-regulated during neutrophil differentiation but down-regulated during monocytic differentiation. The hLRG gene was localized to chromosome 19p13.3., [RefSeq, PubMed]; High serum levels of leucine-rich alpha-2 glycoprotein 1 (LRG-1) are associated with poor survival in patients with early breast cancer., [RefSeq, PubMed]; LRG1 and SDR16C5 protein expressions differ according to HPV status in oropharyngeal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Leucine rich alpha2 glycoprotein 1 derived from malignant pleural mesothelioma cells facilitates macrophage M2 phenotypes., [RefSeq, PubMed]; Lrg1 silencing attenuates ischemia-reperfusion renal injury by regulating autophagy and apoptosis through the TGFbeta1- Smad1/5 signaling pathway., [RefSeq, PubMed]; Relation between LRG1 and CD4[+] T cells, cognitive impairment and neurological function in patients with acute ischemic stroke., [RefSeq, PubMed]; The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O'Donnell et al., 2002 [PubMed 12223515]).[supplied by OMIM, Mar 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, "reported_n_glycosites": 4, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "predictive", "glycan_count": 93, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q8N4F5;Q96QZ4", "ec_number_list": [], "go_molecular_function": "GO:0005114 type II transforming growth factor beta receptor binding;GO:0034713 type I transforming growth factor beta receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0051546 keratinocyte migration;GO:0045766 positive regulation of angiogenesis;GO:0001938 positive regulation of endothelial cell proliferation;GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway;GO:0035313 wound healing, spreading of epidermal cells", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "P02750-1", "record_type": "protein", "filter_code": "0010000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05141-1", "uniprot_id": [ { "id": "ADT2_HUMAN", "url": "https://www.uniprot.org/uniprot/P05141", "type": "external" } ], "mass": 32852.0, "length": 298, "protein_name": "ADP/ATP translocase 2", "gene_name": "SLC25A5", "organism": "Human", "refseq_name": "ADP/ATP translocase 2", "refseq_ac": [ { "id": "NP_001143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001143", "type": "external" } ], "gene_names_uniprotkb": "SLC25A5; AAC2; ANT2", "gene_names_refseq": "2F1; AAC2; ANT2; SLC25A5; T2; T3", "protein_names_uniprotkb": "ADP/ATP translocase 2; ADP,ATP carrier protein 2; ADP,ATP carrier protein, fibroblast isoform; ANT 2; Adenine nucleotide translocator 2; Solute carrier family 25 member 5", "protein_names_refseq": "ADP/ATP translocase 2; adenine nucleotide translocator 2 (fibroblast); adenine nucleotide translocator), member 5; solute carrier family 25 (mitochondrial carrier", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 12b (Disease Ontology:DOID:0080335); autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 (Disease Ontology:DOID:0111517); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); epilepsy (Disease Ontology:DOID:1826); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:292); (R-HSA-180897); (R-HSA-83936); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 159, "publication_id_list": "10455109;10620603;11032837;11809823;11923310;12198491;14623864;14654843;15448143;15522782;15701636;15870080;16115876;16120388;16873718;17101804;17297443;17579211;18077418;18940313;18981177;19130895;19368893;19608861;19691289;19841671;20068231;20797633;2168878;21908771;22223895;22262461;22710082;22869377;23201127;23481700;23931759;24029068;24129315;24315374;24520911;24714562;24715725;24911211;25418920;25502872;25576301;25892735;26154972;26375851;2648994;26504172;26728094;26758079;26768311;26811146;26923599;26929215;26992070;27452731;27496948;27600516;27641616;27642048;27846572;27893789;28063628;28218747;28228285;2829183;28377575;28396416;28467828;28489076;28514659;28832583;28834231;28855257;28904123;29242379;29301859;29314611;29331515;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29932645;30120231;3031073;30315122;30397120;30429286;30444036;30524438;30779550;31213526;31217245;31222486;31327635;31611695;31695197;31844290;31848261;31883789;32119511;32157095;32161166;32265295;32350084;32357974;32488085;32938616;32983136;33043033;33214551;33257573;33298915;33392160;33396658;33592498;33912179;33936100;33968037;34087483;34171305;34357683;34561969;34676827;34704252;34725712;34943861;35051231;35083852;35154160;35251023;35561310;35870450;36215666;36241641;36284347;36629048;37938771;38665916;40914422;5840415;5857365;7623837;8918809;8986748;9124315;9435697;9478986;9587671", "class_list": "", "function": "ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell (By similarity). Cycles between the cytoplasmic-open state (c-state) and the matrix-open state (m-state): operates by the alternating access mechanism with a single substrate-binding site intermittently exposed to either the cytosolic (c-state) or matrix (m-state) side of the inner mitochondrial membrane (By similarity). In addition to its ADP:ATP antiporter activity, also involved in mitochondrial uncoupling and mitochondrial permeability transition pore (mPTP) activity (By similarity). Plays a role in mitochondrial uncoupling by acting as a proton transporter: proton transport uncouples the proton flows via the electron transport chain and ATP synthase to reduce the efficiency of ATP production and cause mitochondrial thermogenesis (By similarity). Proton transporter activity is inhibited by ADP:ATP antiporter activity, suggesting that SLC25A5/ANT2 acts as a master regulator of mitochondrial energy output by maintaining a delicate balance between ATP production (ADP:ATP antiporter activity) and thermogenesis (proton transporter activity) (By similarity). Proton transporter activity requires free fatty acids as cofactor, but does not transport it (By similarity). Probably mediates mitochondrial uncoupling in tissues that do not express UCP1 (By similarity). Also plays a key role in mPTP opening, a non-specific pore that enables free passage of the mitochondrial membranes to solutes of up to 1.5 kDa, and which contributes to cell death (PubMed:31883789). It is however unclear if SLC25A5/ANT2 constitutes a pore-forming component of mPTP or regulates it (By similarity). Acts as a regulator of mitophagy independently of ADP:ATP antiporter activity: promotes mitophagy via interaction with TIMM44, leading to inhibit the presequence translocase TIMM23, thereby promoting stabilization of PINK1 (By similarity). As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation (PubMed:20797633)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB]; ANT2 drives proinflammatory macrophage activation in obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Differential Expression of ADP/ATP Carriers as a Biomarker of Metabolic Remodeling and Survival in Kidney Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene.[provided by RefSeq, Jun 2013]., [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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "B2RCV1;O43350", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0031625 ubiquitin protein ligase binding;GO:0005471 ATP:ADP antiporter activity;GO:0015207 adenine transmembrane transporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:1901526 positive regulation of mitophagy;GO:0007059 chromosome segregation;GO:0008284 positive regulation of cell population proliferation;GO:0030218 erythrocyte differentiation;GO:0030183 B cell differentiation", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "P05141-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07550-1", "uniprot_id": [ { "id": "ADRB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P07550", "type": "external" } ], "mass": 46459.0, "length": 413, "protein_name": "Beta-2 adrenergic receptor", "gene_name": "ADRB2", "organism": "Human", "refseq_name": "beta-2 adrenergic receptor", "refseq_ac": [ { "id": "NP_000015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000015", "type": "external" } ], "gene_names_uniprotkb": "ADRB2; ADRB2R; B2AR", "gene_names_refseq": "ADRB2R; ADRB2; ADRBR; ARB2; B2AR; BAR; BETA2AR", "protein_names_uniprotkb": "Beta-2 adrenergic receptor; Beta-2 adrenoceptor; Beta-2 adrenoreceptor", "protein_names_refseq": "adrenergic, beta-2-, receptor, surface; adrenoceptor beta 2 surface; beta-2 adrenergic receptor; beta-2 adrenoceptor; beta-2 adrenoreceptor; catecholamine receptor", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); childhood-onset asthma (Disease Ontology:DOID:0080815); open-angle glaucoma (Disease Ontology:DOID:1067); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); pulmonary edema (Disease Ontology:DOID:11396); polycystic ovary syndrome (Disease Ontology:DOID:11612); Graves' disease (Disease Ontology:DOID:12361); dilated cardiomyopathy (Disease Ontology:DOID:12930); familial hypercholesterolemia (Disease Ontology:DOID:13810); interstitial cystitis (Disease Ontology:DOID:13949); toxic shock syndrome (Disease Ontology:DOID:14115); hypothyroidism (Disease Ontology:DOID:1459); cystic fibrosis (Disease Ontology:DOID:1485); urticaria (Disease Ontology:DOID:1555); dermatitis (Disease Ontology:DOID:2723); asthma (Disease Ontology:DOID:2841); bronchiolitis (Disease Ontology:DOID:2942); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); myasthenia gravis (Disease Ontology:DOID:437); cholangiocarcinoma (Disease Ontology:DOID:4947); pneumonia (Disease Ontology:DOID:552); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); end stage renal disease (Disease Ontology:DOID:783); myocarditis (Disease Ontology:DOID:820); ulcerative colitis (Disease Ontology:DOID:8577); psoriasis (Disease Ontology:DOID:8893); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:154); (R-HSA-390696); (R-HSA-418555); (R-HSA-5689880); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 6, "publication_count": 392, "publication_id_list": "10097102;10215710;10321720;10436022;10444327;10499588;10531390;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10982817;10983987;11007482;11071885;11076969;11082044;11146000;11231140;11239472;11246467;11247302;11454741;11470803;11516654;11517213;11532990;11566882;11577110;11588219;11809767;11877457;11877461;11889126;11919637;11923872;11927540;11988742;12036966;12057195;12058044;12086608;12106601;12142540;12180353;12213833;12221107;12234931;12428542;12429842;12436935;12447393;12451172;12464600;12717448;12847086;12860470;12917689;12917691;12944396;12952949;12958364;1317852;1328250;13549488;14555962;14581451;14617351;14622578;14622579;14661020;14662753;14671004;14722251;14726597;15053880;15134832;1517224;15247302;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15655528;15671180;15703209;15728179;15765929;15769620;15802264;15895077;15916959;15916963;15951850;16103228;16159959;16214042;16215232;16313925;16326391;16410077;16459302;16460808;16480771;16516836;16687412;16707488;16723738;16798879;16880396;16901786;16903783;16923326;16964248;16980556;17018281;17035995;17052695;17158794;17168849;17267500;17290220;17360967;17443180;17456551;17494869;17512409;17522231;17525332;17540576;17609109;17681954;17713526;17762867;17765681;17873522;17952055;17962520;17978091;17980597;17981138;18032517;18034461;18044684;18056263;18093523;18166656;18172164;18199683;18388313;18467330;1847920;1848190;18547522;18577758;18578522;18632802;18636086;18775314;18790740;18819912;18981233;19015242;19092055;19105585;19135894;19140243;19188362;19287005;19296720;19363159;19398555;19424180;19458185;19536138;19575674;19584355;19603039;1968060;19696796;19696798;19713939;19732400;19776351;1980236;19809571;19838211;19853559;19864009;19874889;19876791;19910467;19929708;20033059;20038610;20059951;20096447;20211604;20228808;20231386;20351096;20368735;20381629;20428113;20448150;20501646;20559325;20733053;20826345;20871122;20946875;21036126;21102408;21118696;2115402;21187331;21225244;21239494;21278753;21316588;21362556;21445324;21482805;21499258;21571647;21596315;21602791;21613550;2163110;21659512;2172775;21779028;21841790;21849505;21883765;21927000;21927001;21962517;21962518;21995445;22029577;22085928;22099461;22118466;22128162;22216260;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23148172;23159851;23166351;23297414;23395819;23486064;23536704;23823722;23824326;23825189;23861397;23891661;24056413;24056936;24130457;2417744;24186068;24260525;24384571;24405750;24493797;24581490;24677713;24680432;24687066;24690384;24746795;24789820;24890609;24896179;2491850;24966051;25107275;25197364;25220262;25303366;25305019;25341920;2540197;2553411;2553705;25578727;2570461;26042225;26403691;26417854;26608913;26829388;27481942;27646272;27965369;2823249;2823383;2825170;2831218;28400472;28467637;2871555;2890644;29335412;29443750;29602314;3025863;3026848;3033609;3034889;30833991;3127824;31279028;31399091;31492838;31983287;32226383;32497535;32540603;32618402;32715661;33049737;33093660;3417785;35580925;38547061;39007953;39107277;6085243;6146630;7559596;7569928;7578059;7706471;7746284;7822302;7877694;7915137;8340388;8383511;8396931;8514797;8521811;8524399;8552632;8553074;8557631;8564227;8662852;8672451;8837779;9092476;9100026;9169477;9263355;9303539;9388255;9417641;9427626;9428629;9516468;9560162;9605427;9635431;9650839;9651336;9723620;9736607;9812899;9830057;9924018", "class_list": "", "function": "Chronic psychological stress aggravates psoriasis-like skin inflammation via overactivation of beta2-adrenoceptor and nuclear factor kappa B pathways., [RefSeq, PubMed]; G protein-coupled receptor for catecholamines that couples to both G(s) and G(i) proteins, activating bifurcated signaling pathways (PubMed:2831218, PubMed:7915137). ADRB2 binds epinephrine (Epi) with an approximately 30-fold greater affinity than norepinephrine (NE) (PubMed:2831218, PubMed:33093660, PubMed:7915137). In the heart, Epi- and NE-activated ADRB2 induces rapid and slow cardiomyocyte contraction rate, respectively (By similarity). Both NE and Epi promote coupling to G(s)/PKA pathway to regulate myocyte contraction rate (By similarity). Epi also promotes ADRB2 coupling to G(i) proteins to exert cardioprotective effects especially in the conditions of hypoxia and oxidative stress through the G(i)/PI3K/Akt signaling pathway (By similarity). ADRB2-G(s) signaling delivers proapoptotic signals in cardiomyocytes although G(i)-mediated survival effect appears to predominate (By similarity). ADRB2 also transduces signals independently of PKA to regulate cellular pH by modulating Na(+)/H(+) exchanger SLC9A3 function (PubMed:9560162)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Gut microbe-generated phenylacetylglutamine is an endogenous allosteric modulator of beta2-adrenergic receptors. Publication Status: Online-Only, [RefSeq, PubMed]; The beta2-adrenergic receptor associates with CXCR4 multimers in human cancer cells., [RefSeq, PubMed]; This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This receptor is also a transcription regulator of the alpha-synuclein gene, and together, both genes are believed to be associated with risk of Parkinson's Disease. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity, type 2 diabetes and cardiovascular disease. [provided by RefSeq, Oct 2019]., [RefSeq]", "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": 2, "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": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 36, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 33, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B0LPE4;B2R7X2;O14823;O14824;O14825;O14826;Q4JG18;Q53GA6;Q6GMT4;Q6P4D8;Q8NEQ9;Q96EC3;Q9UCZ0;Q9UCZ1;Q9UCZ2;Q9UCZ3;Q9UH95;Q9UHA1;Q9UMZ5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0001540 amyloid-beta binding;GO:0015459 potassium channel regulator activity;GO:0008179 adenylate cyclase binding", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005634 nucleus;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006940 regulation of smooth muscle contraction;GO:0007166 cell surface receptor signaling pathway;GO:0043410 positive regulation of MAPK cascade;GO:0071880 adenylate cyclase-activating adrenergic receptor signaling pathway;GO:1904646 cellular response to amyloid-beta", "synthesized_glycan_count": 0, "hit_score": 39.7, "record_id": "P07550-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08173-1", "uniprot_id": [ { "id": "ACM4_HUMAN", "url": "https://www.uniprot.org/uniprot/P08173", "type": "external" } ], "mass": 53049.0, "length": 479, "protein_name": "Muscarinic acetylcholine receptor M4", "gene_name": "CHRM4", "organism": "Human", "refseq_name": "muscarinic acetylcholine receptor M4", "refseq_ac": [ { "id": "NP_000732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000732", "type": "external" } ], "gene_names_uniprotkb": "CHRM4", "gene_names_refseq": "CHRM4; HM4; M4R", "protein_names_uniprotkb": "Muscarinic acetylcholine receptor M4", "protein_names_refseq": "acetylcholine receptor, muscarinic 4; muscarinic acetylcholine receptor M4", "tax_id": 9606, "disease": "congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:1132); (R-HSA-390648); (R-HSA-418594)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "11007482;12120503;1346637;15951850;16250841;16634148;16923326;18434541;18577758;1994002;22222704;22222706;24587893;24839481;2534964;25502048;27269905;2748346;28327676;2834384;29715053;3037705;30825602;31211471;32007426;32234387;3272174;3443095;34806612;5497851;7937899;8015379;8097411;8406495;8925880;9647869", "class_list": "", "function": "Authors discuss how M4 activity regulates DA release and signaling, the potential sources of ACh that can regulate M4 activity, and the implications of targeting M4 activity for the treatment of the motor symptoms in movement disorders. [Review] Review article, [RefSeq, PubMed]; Group II muscarinic acetylcholine receptors attenuate hepatic injury via Nrf2/ARE pathway., [RefSeq, PubMed]; Muscarinic Receptors Expression in the Peripheral Blood Cells Differentiate Dementia with Lewy Bodies from Alzheimer's Disease., [RefSeq, PubMed]; The association of the African-specific CHRM4 SNP with cocaine dependence survived correction for multiple testing, [RefSeq, PubMed]; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is inhibition of adenylate cyclase., [UniProtKB]; The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RPP4;Q0VD60;Q4VBK7", "ec_number_list": [], "go_molecular_function": "GO:0016907 G protein-coupled acetylcholine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007197 adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway;GO:0007213 G protein-coupled acetylcholine receptor signaling pathway;GO:0040012 regulation of locomotion", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P08173-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7M7-1", "uniprot_id": [ { "id": "ACSM4_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7M7", "type": "external" } ], "mass": 65703.0, "length": 580, "protein_name": "Acyl-coenzyme A synthetase ACSM4, mitochondrial", "gene_name": "ACSM4", "organism": "Human", "refseq_name": "acyl-coenzyme A synthetase ACSM4, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001073923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073923", "type": "external" } ], "gene_names_uniprotkb": "ACSM4", "gene_names_refseq": "ACSM4", "protein_names_uniprotkb": "Acyl-coenzyme A synthetase ACSM4, mitochondrial; 6.2.1.2; Acyl-CoA synthetase medium-chain family member 4", "protein_names_refseq": "acyl-coenzyme A synthetase ACSM4, mitochondrial precursor; acyl-coenzyme A synthetase ACSM4, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:341392); (R-HSA-177128); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 35, "publication_id_list": "10220572;10434065;11581266;12616642;13741103;16258079;16837570;16858120;16943252;17482904;17762044;1783992;19836360;20877624;22674043;23982661;25840124;27351777;28677105;29557506;30379171;32897882;3342084;35051231;3705620;5013373;5773090;5862532;6777177;6838677;7206363;7802672;9144407;931988;975718", "class_list": "", "function": "Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids with a preference for C6-12 fatty acids (By similarity)., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; SNPs associated with rapid AIDS progression, [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "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": "A8MTI6", "ec_number_list": [ { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.2", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "6.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.25", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0102391 decanoate-CoA ligase activity;GO:0004321 fatty-acyl-CoA synthase activity;GO:0015645 fatty acid ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006637 acyl-CoA metabolic process;GO:0006633 fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P0C7M7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10109-1", "uniprot_id": [ { "id": "ADX_HUMAN", "url": "https://www.uniprot.org/uniprot/P10109", "type": "external" } ], "mass": 19393.0, "length": 184, "protein_name": "Adrenodoxin, mitochondrial", "gene_name": "FDX1", "organism": "Human", "refseq_name": "adrenodoxin, mitochondrial precursor", "refseq_ac": [ { "id": "NP_004100", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004100", "type": "external" } ], "gene_names_uniprotkb": "FDX1; ADX", "gene_names_refseq": "ADX; FDX1; FDX; LOH11CR1D", "protein_names_uniprotkb": "Adrenodoxin, mitochondrial; Adrenal ferredoxin; Ferredoxin-1; Hepatoredoxin", "protein_names_refseq": "adrenal ferredoxin; adrenodoxin, mitochondrial precursor; adrenodoxin, mitochondrial; hepatoredoxin; mitochondrial adrenodoxin", "tax_id": 9606, "disease": "early infantile epileptic encephalopathy (Disease Ontology:DOID:0050709); generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); Dravet syndrome (Disease Ontology:DOID:0080422); developmental and epileptic encephalopathy 13 (Disease Ontology:DOID:0080445); benign familial infantile seizures 5 (Disease Ontology:DOID:0081118); generalized epilepsy with febrile seizures plus 2 (Disease Ontology:DOID:0111294); epilepsy (Disease Ontology:DOID:1826); pancreatitis (Disease Ontology:DOID:4989); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:2230); (R-HSA-1362409); (R-HSA-196108); (R-HSA-211976); (R-HSA-2395516); (R-HSA-5579026); (R-HSA-9857492)", "pathway_count": 7, "publication_count": 96, "publication_id_list": "10103005;10588945;10639125;11389890;11502818;11555828;11823441;12699818;12785837;12886008;12947415;12970193;15042513;15507506;15509595;1567230;15952888;16847322;1708392;17331979;1741400;18319250;18339629;18425540;18669648;1909889;19454487;19570983;19661213;20149798;20522547;20547883;20668094;20873749;21159840;21298097;21636783;21776984;21846720;21944046;21987576;22077971;22101253;22152680;22306468;22323289;22352884;22511353;2256920;22772592;23186163;2340092;24256811;24341803;24733926;25347204;25542846;25818881;2592361;26016389;26016518;27989128;28001042;28218747;28757203;28904123;29437277;2969697;2981667;29987032;3001071;3024157;30315122;3038528;31042466;31844290;3229285;3343244;33691108;33912179;33936100;34357683;3487786;37453661;37481209;37734220;38114959;38126112;38802900;39128228;8307574;8619637;8645003;9536209;9578606;9915832", "class_list": "", "function": "Essential for the synthesis of various steroid hormones (PubMed:20547883, PubMed:21636783). Participates in the reduction of mitochondrial cytochrome P450 for steroidogenesis (PubMed:20547883, PubMed:21636783). Transfers electrons from adrenodoxin reductase to CYP11A1, a cytochrome P450 that catalyzes cholesterol side-chain cleavage (PubMed:20547883, PubMed:21636783). Does not form a ternary complex with adrenodoxin reductase and CYP11A1 but shuttles between the two enzymes to transfer electrons (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; FDX1 downregulation activates mitophagy and the PI3K/AKT signaling pathway to promote hepatocellular carcinoma progression by inducing ROS production., [RefSeq, PubMed]; Ferredoxin 1: a gatekeeper in halting lung adenocarcinoma progression through activation of the GPRIN2 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Interactions of human mitochondrial Ferredoxin 1 (Adrenodoxin) by NMR; modulation by cytochrome P450 substrate and by truncation of the C-terminal tail., [RefSeq, PubMed]; METTL3 promotes non-small-cell lung cancer growth and metastasis by inhibiting FDX1 through copper death-associated pri-miR-21-5p maturation., [RefSeq, PubMed]; Systematic analysis based on the cuproptosis-related genes identifies ferredoxin 1 as an immune regulator and therapeutic target for glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011]., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ14;Q53YD6", "ec_number_list": [], "go_molecular_function": "GO:0005506 iron ion binding;GO:0009055 electron transfer activity;GO:0051537 2 iron, 2 sulfur cluster binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0008203 cholesterol metabolic process;GO:0042446 hormone biosynthetic process;GO:0006694 steroid biosynthetic process;GO:0022900 electron transport chain;GO:0140647 P450-containing electron transport chain", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P10109-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12236-1", "uniprot_id": [ { "id": "ADT3_HUMAN", "url": "https://www.uniprot.org/uniprot/P12236", "type": "external" } ], "mass": 32866.0, "length": 298, "protein_name": "ADP/ATP translocase 3", "gene_name": "SLC25A6", "organism": "Human", "refseq_name": "ADP/ATP translocase 3", "refseq_ac": [ { "id": "NP_001627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001627", "type": "external" } ], "gene_names_uniprotkb": "SLC25A6; AAC3; ANT3; CDABP0051", "gene_names_refseq": "AAC3; ANT 2; ANT 3; ANT3Y; ANT3; ANT; SLC25A6", "protein_names_uniprotkb": "ADP/ATP translocase 3; ADP,ATP carrier protein 3; ADP,ATP carrier protein, isoform T2; ANT 2; ANT 3; Adenine nucleotide translocator 3; Solute carrier family 25 member 6", "protein_names_refseq": "ADP,ATP carrier protein 3; ADP,ATP carrier protein, liver; ADP/ATP translocase 3; ADP/ATP translocator of liver; adenine nucleotide translocator 3; adenine nucleotide translocator), member 6; epididymis secretory sperm binding protein; solute carrier family 25 (mitochondrial carrier", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 12b (Disease Ontology:DOID:0080335); autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 (Disease Ontology:DOID:0111517); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); epilepsy (Disease Ontology:DOID:1826); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:293); (R-HSA-1268020); (R-HSA-168277); (R-HSA-180897); (R-HSA-83936); (R-HSA-9837999)", "pathway_count": 6, "publication_count": 134, "publication_id_list": "10455109;10620603;11032837;11809823;11923310;12198491;14623864;14654843;14726512;15033708;15163724;15254020;15448143;15522782;15644312;15683237;15701636;15870080;16115876;16120388;16185709;16201016;16849325;16873718;17101804;17297443;17510655;17579211;18174896;18678864;18691976;18940313;18981177;19368893;19409522;19453276;19608861;19767391;19841671;19962426;20593814;21750375;22223895;22262461;22424782;22710082;23041349;23201127;23301498;23597483;23811401;23931759;24129315;24315374;24520911;24715725;24911211;25315652;2541251;25502872;25535343;25810538;2648994;26504172;26697887;26811146;26923599;26992070;27496948;27641616;27642048;27920218;28228285;2829183;28377575;28396416;28467828;28514659;28832583;29242379;29301859;29557506;29632711;29932645;30120231;30315122;31020640;31154438;31213526;31222486;31327635;31341297;31695197;31844290;32157095;32161166;32194820;32502341;32938616;33043033;33141586;33257573;33298915;33465208;33592498;33912179;34357683;34509645;34704252;34932366;34943861;35051231;35083852;35154160;35561310;35870450;36010968;36241641;36629048;37495650;37938771;38665916;39990658;40596516;5840415;5857365;7623837;8486369;8986748;9124315;9435697;9478986;9587671;9934696", "class_list": "", "function": "ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell (By similarity). Cycles between the cytoplasmic-open state (c-state) and the matrix-open state (m-state): operates by the alternating access mechanism with a single substrate-binding site intermittently exposed to either the cytosolic (c-state) or matrix (m-state) side of the inner mitochondrial membrane (By similarity). In addition to its ADP:ATP antiporter activity, also involved in mitochondrial uncoupling and mitochondrial permeability transition pore (mPTP) activity (PubMed:15033708). Plays a role in mitochondrial uncoupling by acting as a proton transporter: proton transport uncouples the proton flows via the electron transport chain and ATP synthase to reduce the efficiency of ATP production and cause mitochondrial thermogenesis (By similarity). Proton transporter activity is inhibited by ADP:ATP antiporter activity, suggesting that SLC25A6/ANT3 acts as a master regulator of mitochondrial energy output by maintaining a delicate balance between ATP production (ADP:ATP antiporter activity) and thermogenesis (proton transporter activity) (By similarity). Proton transporter activity requires free fatty acids as cofactor, but does not transport it (By similarity). Also plays a key role in mPTP opening, a non-specific pore that enables free passage of the mitochondrial membranes to solutes of up to 1.5 kDa, and which contributes to cell death (PubMed:15033708). It is however unclear if SLC25A6/ANT3 constitutes a pore-forming component of mPTP or regulates it (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein is implicated in the function of the permability transition pore complex (PTPC), which regulates the release of mitochondrial products that induce apoptosis. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Jun 2013]., [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": 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": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96C49", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0005471 ATP:ADP antiporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0005744 TIM23 mitochondrial import inner membrane translocase complex", "go_biological_process": "GO:0006915 apoptotic process;GO:0046902 regulation of mitochondrial membrane permeability;GO:0140021 mitochondrial ADP transmembrane transport;GO:1990544 mitochondrial ATP transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P12236-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13945-1", "uniprot_id": [ { "id": "ADRB3_HUMAN", "url": "https://www.uniprot.org/uniprot/P13945", "type": "external" } ], "mass": 43519.0, "length": 408, "protein_name": "Beta-3 adrenergic receptor", "gene_name": "ADRB3", "organism": "Human", "refseq_name": "beta-3 adrenergic receptor", "refseq_ac": [ { "id": "NP_000016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000016", "type": "external" } ], "gene_names_uniprotkb": "ADRB3; ADRB3R; B3AR", "gene_names_refseq": "ADRB3; BETA3AR", "protein_names_uniprotkb": "Beta-3 adrenergic receptor; Beta-3 adrenoceptor; Beta-3 adrenoreceptor", "protein_names_refseq": "adrenergic, beta-3-, receptor; beta-3 adrenergic receptor; beta-3 adrenoceptor; beta-3 adrenoreceptor", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); dilated cardiomyopathy 1H (Disease Ontology:DOID:0110429); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); polycystic ovary syndrome (Disease Ontology:DOID:11612); gout (Disease Ontology:DOID:13189); endometrial cancer (Disease Ontology:DOID:1380); cystic fibrosis (Disease Ontology:DOID:1485); coronary artery disease (Disease Ontology:DOID:3393); congestive heart failure (Disease Ontology:DOID:6000); rheumatoid arthritis (Disease Ontology:DOID:7148); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:155); (R-HSA-390696); (R-HSA-418555)", "pathway_count": 3, "publication_count": 94, "publication_id_list": "10188996;10207024;10215710;10321720;10391210;10531390;11007482;12036966;12058044;12106601;12180353;12428542;12860470;1328250;1336117;13549488;14671004;1517224;15655528;15743038;15765929;15769620;15951850;16313925;16480771;16687412;16923326;17052695;17168849;17264845;18044684;18577758;19105585;1980236;19876791;19929708;20381629;20871122;21036126;21118696;2163110;2172775;21982743;23148172;2417744;24556804;24687066;24890609;2491850;2553411;2553705;2570461;26417854;27965369;2823383;2825170;28400472;2871555;29443750;29557506;29602314;3025863;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;36989522;37628593;37938600;39294633;6085243;7609752;7746284;8340388;8389293;8389717;8396931;8514797;8564227;8641219;8672451;8721782;9263355;9417641;9605427;9651336;9769330", "class_list": "", "function": "Association between rs4994 variant in beta3-Adrenergic receptor and obesity in Vietnamese preschool-age children, independent of eating behaviors. Publication Status: Online-Only, [RefSeq, PubMed]; Association of an ADRB3 Variant with Coronary Artery Disease Within the Chinese Han Population: Construction of a Predictive Nomogram Model., [RefSeq, PubMed]; Effects of the Trp64Arg Polymorphism in the ADRB3 Gene on Body Composition, Cardiorespiratory Fitness, and Physical Activity in Healthy Adults. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor for catecholamines that couples to both G(s) and G(i) proteins, leading to either activation or inhibition of adenylate cyclase and cAMP-dependent pathway, respectively (PubMed:10188996, PubMed:2570461, PubMed:8641219). The rank order of potency for physiological agonists is norepinephrine > epinephrine (PubMed:10188996, PubMed:2570461, PubMed:8641219). Involved in the regulation of thermogenesis and lipolysis in brown and white adipose tissue, after coupling to G(s) proteins and stimulation of the cAMP-PKA axis (By similarity). Also activates lipolytic process by coupling to G(i) proteins and consequent initiation of the ERK1/2 MAP kinase cascade (PubMed:10207024). Participates in relaxation of the blood vessels and the urinary bladder (PubMed:10188996). Also mediates negative inotropic effects in cardiomyocytes through activation of an NO synthase pathway and subsequent increase in cGMP levels, possibly involving G(i/o) protein-mediated coupling (PubMed:9769330)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Obesity and bodyweight-related disorders are correlated with certain polymorphisms in three subtypes of beta-adrenoceptor, among them, the ADRB3 gene.[provided by RefSeq, Oct 2019]., [RefSeq]; Urinary beta 3-adrenoceptor as a diagnostic biomarker for overactive bladder in women. 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 15, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q4JFT4", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0051379 epinephrine binding;GO:0051380 norepinephrine binding;GO:0004939 beta-adrenergic receptor activity;GO:0015052 beta3-adrenergic receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0043410 positive regulation of MAPK cascade;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0071880 adenylate cyclase-activating adrenergic receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P13945-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYF1-1", "uniprot_id": [ { "id": "ACE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYF1", "type": "external" } ], "mass": 92463.0, "length": 805, "protein_name": "Angiotensin-converting enzyme 2", "gene_name": "ACE2", "organism": "Human", "refseq_name": "angiotensin-converting enzyme 2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_068576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068576", "type": "external" } ], "gene_names_uniprotkb": "ACE2; PRO1885", "gene_names_refseq": "ACE2; ACEH", "protein_names_uniprotkb": "Angiotensin-converting enzyme 2; 3.4.17.-; 3.4.17.23; ACE-related carboxypeptidase; ACEH; Angiotensin-converting enzyme homolog; Angiotensin-converting enzyme-related carboxypeptidase; Metalloprotease MPROT15", "protein_names_refseq": "ACE-related carboxypeptidase; angiotensin I converting enzyme (peptidyl-dipeptidase A) 2; angiotensin I converting enzyme 2; angiotensin-converting enzyme 2 isoform 1 precursor; angiotensin-converting enzyme homolog; angiotensin-converting enzyme-related carboxypeptidase; metalloprotease MPROT15", "tax_id": 9606, "disease": "thrombosis (Disease Ontology:DOID:0060903); COVID-19 (Disease Ontology:DOID:0080600); hypertension (Disease Ontology:DOID:10763); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); primary biliary cholangitis (Disease Ontology:DOID:12236); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); cerebral malaria (Disease Ontology:DOID:14069); glaucoma (Disease Ontology:DOID:1686); severe acute respiratory syndrome (Disease Ontology:DOID:2945); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); avian influenza (Disease Ontology:DOID:4492); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); lung disease (Disease Ontology:DOID:850); diabetic retinopathy (Disease Ontology:DOID:8947)", "pathway": " (hsa:59272); (R-HSA-2022377); (R-HSA-9678110); (R-HSA-9679191); (R-HSA-9694614); (R-HSA-9733458)", "pathway_count": 6, "publication_count": 210, "publication_id_list": "10.1016/j.chom.2020.08.004;10.1093/glycob/cwaa101;10.1101/2023.09.13.557529;10087012;10536878;10899625;10924499;10969042;11237011;11502696;11815627;12045255;12358520;12459472;12540854;12927775;12975309;14504186;14647384;14747736;14754895;15010527;15084671;15140961;15141377;15151696;15163706;15231706;15276642;15283675;15452268;15474033;15671045;15791205;15897467;15937940;15983030;16008552;16115318;16166518;16522641;1668266;16790432;16962401;17138938;17662961;17704566;18424768;1848554;1851160;19021774;19159218;19185582;19321428;19800993;19901337;20223979;20380117;20889553;20926566;21068237;21325420;21563828;22193701;22401777;22496216;22552008;2266130;22814904;22816037;23105391;23446738;23641311;24141856;24227843;24272870;2443571;24584101;2558510;25801024;26002965;26311884;26953343;2708524;27217402;27277342;27550352;28293165;28425720;2846041;29557506;29570986;29741879;29945920;30102747;3017438;30201761;30356097;30379171;31048504;31844290;32075877;32125455;32132184;32142651;32149769;32170560;32179150;32221306;32225175;32225176;32327758;32333915;32339157;32345140;32358202;32362314;32413319;32512386;32532959;32653452;32698840;32703818;32715618;32721790;32753553;32766576;32841605;32916258;32942285;32970989;32995803;33000221;33051876;33077915;33077916;33082293;33082294;33102950;33133145;33135055;33298900;33303459;33309272;33310888;33432067;33432184;33436497;33436498;33493182;33493263;33494095;33497607;33554856;33581114;33607086;33609497;33713620;33774649;33827113;33890572;33903171;34019602;34023935;34052578;34067878;34159616;34171305;34179075;34189428;34213849;34235261;34235568;34324210;34357683;34431042;34504087;34510494;34528721;34542788;34561887;34611326;34613786;34732583;34782609;34929169;35051231;35343766;35494241;36228039;36735681;36757924;36876523;37074911;383475;39210401;39280326;39287601;39436480;4289389;4322712;4330891;4360430;6269175;6270633;6303766;6807977;7980644;9169443;9570564", "class_list": "", "function": "(Microbial infection) Acts as a receptor for human coronaviruses SARS-CoV and SARS-CoV-2, as well as human coronavirus NL63/HCoV-NL63., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; (Microbial infection) Non-functional as a receptor for human coronavirus SARS-CoV-2., [UniProtKB, PubMed, PubMed]; Essential counter-regulatory carboxypeptidase of the renin-angiotensin hormone system that is a critical regulator of blood volume, systemic vascular resistance, and thus cardiovascular homeostasis (PubMed:27217402). Converts angiotensin I to angiotensin 1-9, a nine-amino acid peptide with anti-hypertrophic effects in cardiomyocytes, and angiotensin II to angiotensin 1-7, which then acts as a beneficial vasodilator and anti-proliferation agent, counterbalancing the actions of the vasoconstrictor angiotensin II (PubMed:10924499, PubMed:10969042, PubMed:11815627, PubMed:14504186, PubMed:19021774). Also removes the C-terminal residue from three other vasoactive peptides, neurotensin, kinetensin, and des-Arg bradykinin, but is not active on bradykinin (PubMed:10969042, PubMed:11815627). Also cleaves other biological peptides, such as apelins (apelin-13, [Pyr1]apelin-13, apelin-17, apelin-36), casomorphins (beta-casomorphin-7, neocasomorphin) and dynorphin A with high efficiency (PubMed:11815627, PubMed:27217402, PubMed:28293165). In addition, ACE2 C-terminus is homologous to collectrin and is responsible for the trafficking of the neutral amino acid transporter SL6A19 to the plasma membrane of gut epithelial cells via direct interaction, regulating its expression on the cell surface and its catalytic activity (PubMed:18424768, PubMed:19185582)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human ACE2 Gene Replacement Mice Support SARS-CoV-2 Viral Replication and Nonlethal Disease Progression., [RefSeq, PubMed]; Interaction of SARS-CoV-2 Spike protein with ACE2 induces cortical actin modulation, including dephosphorylation of ERM proteins and reduction of cortical stiffness. Publication Status: Online-Only, [RefSeq, PubMed]; Interferons and viruses induce a novel truncated ACE2 isoform and not the full-length SARS-CoV-2 receptor., [RefSeq, PubMed]; Non-functional as a carboxypeptidase., [UniProtKB, PubMed]; Role in hydrolyzing biological peptides, [RefSeq, PubMed]; Role of ACE2 and TMPRSS2 polymorphisms on COVID-19 outcome and disease severity in adult patients: A prospective cohort study in a tertiary hospital, Indonesia., [RefSeq, PubMed]; The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. ACE2 is known to be expressed in various human organs, and its organ- and cell-specific expression suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronavirus HCoV-NL63 and the human severe acute respiratory syndrome coronaviruses, SARS-CoV and SARS-CoV-2, the latter is the causative agent of coronavirus disease-2019 (COVID-19). Multiple splice variants have been found for this gene and the dACE2 (or MIRb-ACE2) splice variant has been found to be interferon inducible. [provided by RefSeq, Nov 2020]., [RefSeq]; Tissue-specific and interferon-inducible expression of nonfunctional ACE2 through endogenous retroelement co-option., [RefSeq, PubMed]; Ubiquitination of angiotensin-converting enzyme 2 contributes to the development of pulmonary arterial hypertension mediated by neural precursor cell-expressed developmentally down-regulated gene 4-Like. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "reported_o_glycosites": 11, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 62, "reported_phosphosites": 4, "reported_mutagensis": 70, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic; monitoring", "glycan_count": 349, "disease_count": 17, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "A0A7D6JAD5;C7ECU1;Q6UWP0;Q86WT0;Q9NRA7;Q9UFZ6", "ec_number_list": [ { "id": "3.4.21.122", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.122", "type": "external" }, { "id": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "type": "external" }, { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "3.4.17.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.23", "type": "external" }, { "id": "3.4.17.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.-", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0004180 carboxypeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0005929 cilium", "go_biological_process": "GO:0019058 viral life cycle;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0042127 regulation of cell population proliferation;GO:0002003 angiotensin maturation;GO:0003081 regulation of systemic arterial blood pressure by renin-angiotensin", "synthesized_glycan_count": 0, "hit_score": 58.1, "record_id": "Q9BYF1-1", "record_type": "protein", "filter_code": "0101000.1100111.100000.000000000001000000.1100100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0P0-4", "uniprot_id": [ { "id": "5NT3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0P0", "type": "external" } ], "mass": 37948.0, "length": 336, "protein_name": "Cytosolic 5'-nucleotidase 3A", "gene_name": "NT5C3A", "organism": "Human", "refseq_name": "cytosolic 5'-nucleotidase 3A isoform 2", "refseq_ac": [ { "id": "NP_001002009", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002009", "type": "external" } ], "gene_names_uniprotkb": "NT5C3A; HSPC233; NT5C3; P5N1; UMPH1", "gene_names_refseq": "CNSHA8; NT5C3A; NT5C3; P5'N-1; P5N-1; PN-I; POMP; PSN1; UMPH1; UMPH; cN-III; hUMP1; p36", "protein_names_uniprotkb": "Cytosolic 5'-nucleotidase 3A; 3.1.3.5; 3.1.3.91; 7-methylguanosine nucleotidase; 7-methylguanosine phosphate-specific 5'-nucleotidase; Cytosolic 5'-nucleotidase 3; Cytosolic 5'-nucleotidase III; P5'N-1; P5N-1; PN-I; Pyrimidine 5'-nucleotidase 1; Uridine 5'-monophosphate hydrolase 1; cN-III; p36", "protein_names_refseq": "5'-nucleotidase, cytosolic III; 7-methylguanosine phosphate-specific 5'-nucleotidase; cytosolic 5'-nucleotidase 3A isoform 2; cytosolic 5'-nucleotidase 3A; cytosolic 5'-nucleotidase 3; lupin; pyrimidine 5'-nucleotidase 1; uridine 5'-monophosphate hydrolase 1", "tax_id": 9606, "disease": "congenital nonspherocytic hemolytic anemia 8 (Disease Ontology:DOID:0051007)", "pathway": " (hsa:51251)", "pathway_count": 1, "publication_count": 93, "publication_id_list": "10942414;11230166;11369620;12930399;15238149;15604219;15968458;16461318;17405878;18499901;19623099;22544926;23481700;24366607;24397554;24603684;24714562;24715725;25153905;25576301;26154972;26375851;26728094;26768311;26811146;26992070;27543614;27600516;27846572;27862975;27920218;28228285;28510447;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29493099;29557506;29632711;29786170;29789417;30315122;30484775;30524438;30779550;30833945;31154438;31217245;31530632;31611695;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34547876;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;40914422;8557639", "class_list": "", "function": "Genetic variation in NT5C3 might affect protein function and potentially influence drug response, [RefSeq, PubMed]; Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP) (PubMed:24603684). CMP seems to be the preferred substrate (PubMed:15968458)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]., [RefSeq]; [Two novel mutations (c.830A>G, c.252+1G>A) in NT5C3A associated with hereditary pyrimidine 5'-nucleotidase deficiency: two cases report and literature review]. Review article, [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": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 2, "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": "A8K253;B2RAA5;B8ZZC4;Q6IPZ1;Q6NXS6;Q7L3G6;Q9P0P5;Q9UC42;Q9UC43;Q9UC44;Q9UC45", "ec_number_list": [ { "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": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.91", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.91", "type": "external" }, { "id": "3.1.3.89", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.89", "type": "external" }, { "id": "3.1.3.99", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.99", "type": "external" }, { "id": "3.1.3.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.35", "type": "external" }, { "id": "2.7.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.77", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0000166 nucleotide binding;GO:0008253 5'-nucleotidase activity;GO:0000215 tRNA 2'-phosphotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0046079 dUMP catabolic process;GO:0051607 defense response to virus;GO:0006213 pyrimidine nucleoside metabolic process;GO:0006248 CMP catabolic process;GO:0006249 dCMP catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9H0P0-4", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13155-1", "uniprot_id": [ { "id": "AIMP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13155", "type": "external" } ], "mass": 35349.0, "length": 320, "protein_name": "Aminoacyl tRNA synthase complex-interacting multifunctional protein 2", "gene_name": "AIMP2", "organism": "Human", "refseq_name": "aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform a", "refseq_ac": [ { "id": "NP_006294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006294", "type": "external" } ], "gene_names_uniprotkb": "AIMP2; JTV1; PRO0992", "gene_names_refseq": "AIMP2; HLD17; JTV-1; JTV1; P38", "protein_names_uniprotkb": "Aminoacyl tRNA synthase complex-interacting multifunctional protein 2; Multisynthase complex auxiliary component p38; Protein JTV-1", "protein_names_refseq": "ARS-interacting multi-functional protein 2; aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform a; aminoacyl tRNA synthase complex-interacting multifunctional protein 2; multisynthase complex auxiliary component p38; multisynthetase complex auxiliary component p38; protein JTV-1", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 17 (Disease Ontology:DOID:0070404)", "pathway": " (hsa:7965); (R-HSA-2408522); (R-HSA-379716); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 170, "publication_id_list": "10567402;10611221;10655586;10673502;11027551;11237011;11347887;11714285;11829477;11840323;11858721;11891324;11912130;11930005;12690580;12819782;1373391;14660560;14671330;14975237;15118077;15220430;15226305;15507434;16014379;16034366;16055448;16135753;16429158;16661668;16661782;16822840;16906134;1698554;1748288;1761529;17623675;18029264;18491316;18644867;18695251;19131329;19289464;19524539;19608861;20068231;20460180;21486943;21965087;22299025;22645359;22647378;23159739;23190890;23207919;23481700;24029068;24312579;24715725;25248477;25576301;25595898;26074468;26154972;26472928;26992070;27128622;27197155;27600516;27846572;28218747;28228285;28394346;28510447;28832583;28834231;28904123;29215095;29242379;29295999;29314611;29393594;29437277;29557506;29632046;29786170;29789417;30315122;30379171;30410026;30484775;30524438;30804224;30833945;31020640;31154438;31217245;31844290;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32636443;32870666;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33744299;33912179;33936100;33968037;34019948;34087483;34140478;34171305;34357683;34932366;35051231;35138101;35154160;35251023;35318648;35487244;35546148;35561310;35580925;36010968;36215666;36241641;37770430;38665916;38945214;39390613;40307207;40914422;4130389;5338216;6022858;656444;7118399;7654687;7958932;8052601;8078941;8188258;8336698;8428657;8449960;8666379;9199364;9278442;9353119;9421509;9431993;9440696;9560246;9676189;9760192;9878398;9973413", "class_list": "", "function": "AIMP2 accumulation in brain leads to cognitive deficits and blood secretion in Parkinson's disease. Publication Status: Online-Only, [RefSeq, PubMed]; AIMP2 restricts EV71 replication by recruiting SMURF2 to promote the degradation of 3D polymerase., [RefSeq, PubMed]; AIMP2-DX2 provides therapeutic interface to control KRAS-driven tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Discovery of two distinct aminoacyl-tRNA synthetase complexes anchored to the Plasmodium surface tRNA import protein., [RefSeq, PubMed]; Required for assembly and stability of the aminoacyl-tRNA synthase complex (PubMed:19131329). Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor., [UniProtKB, PubMed, PubMed]; Required for assembly and stability of the aminoacyl-tRNA synthase complex. Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor., [UniProtKB, UniProtKB]; The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]., [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": 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": 5, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 7, "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": "F8W950;Q75MR1;Q96CZ5;Q9P1L2", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0017101 aminoacyl-tRNA synthetase multienzyme complex", "go_biological_process": "GO:0030154 cell differentiation;GO:0006915 apoptotic process;GO:0006418 tRNA aminoacylation for protein translation;GO:0065003 protein-containing complex assembly;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "Q13155-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZZ5-4", "uniprot_id": [ { "id": "API5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZZ5", "type": "external" } ], "mass": 59005.0, "length": 524, "protein_name": "Apoptosis inhibitor 5", "gene_name": "API5", "organism": "Human", "refseq_name": "apoptosis inhibitor 5 isoform a", "refseq_ac": [ { "id": "NP_001136402", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136402", "type": "external" } ], "gene_names_uniprotkb": "API5; MIG8", "gene_names_refseq": "AAC-11; AAC11; API5", "protein_names_uniprotkb": "Apoptosis inhibitor 5; AAC-11; API-5; Antiapoptosis clone 11 protein; Cell migration-inducing gene 8 protein; FIF; Fibroblast growth factor 2-interacting factor; Protein XAGL", "protein_names_refseq": "FIF; antiapoptosis clone 11 protein; apoptosis inhibitor 5 isoform a; cell migration-inducing gene 8 protein; fibroblast growth factor 2-interacting factor 2; migration-inducing protein MIG8", "tax_id": 9606, "disease": "", "pathway": " (hsa:8539)", "pathway_count": 1, "publication_count": 104, "publication_id_list": "10393420;10780674;11075807;11557113;17081983;17112319;17827341;19387494;20068231;21406692;22334682;23186163;23301498;23481700;24129315;24275569;24714562;24715725;25576301;25645385;25802875;25810538;25892735;26154972;26375851;26728094;26992070;27397612;27600516;27846572;27862975;27920218;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29731959;29769354;29786170;29789417;30192525;30315122;30429286;30484775;30524438;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34372697;34385547;34509645;34932366;35051231;35083852;35251023;35580925;36010968;36198790;36215666;36284347;36581221;37095445;37217939;37938771;38665916;40914422;8889549;9307294", "class_list": "", "function": "Altered expression of anti-apoptotic protein Api5 affects breast tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Antiapoptotic factor that may have a role in protein assembly. Negatively regulates ACIN1. By binding to ACIN1, it suppresses ACIN1 cleavage from CASP3 and ACIN1-mediated DNA fragmentation. Also known to efficiently suppress E2F1-induced apoptosis. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs., [UniProtKB, PubMed, PubMed, PubMed]; DeSUMOylation of Apoptosis Inhibitor 5 by Avibirnavirus VP3 Supports Virus Replication., [RefSeq, PubMed]; Interplay between p300 and HDAC1 regulate acetylation and stability of Api5 to regulate cell proliferation. Publication Status: Online-Only, [RefSeq, PubMed]; The gammadelta IEL effector API5 masks genetic susceptibility to Paneth cell death., [RefSeq, PubMed]; This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]., [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": 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": 0, "reported_glycation": 0, "reported_snv": 3, "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": "B4DGR0;B4DRJ2;B4E283;D3DR21;G3V1C3;O15441;Q9Y4J7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0017134 fibroblast growth factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q9BZZ5-4", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z434-1", "uniprot_id": [ { "id": "MAVS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z434", "type": "external" } ], "mass": 56528.0, "length": 540, "protein_name": "Mitochondrial antiviral-signaling protein", "gene_name": "MAVS", "organism": "Human", "refseq_name": "mitochondrial antiviral-signaling protein isoform 2", "refseq_ac": [ { "id": "NP_001193420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193420", "type": "external" } ], "gene_names_uniprotkb": "MAVS; IPS1; KIAA1271; VISA", "gene_names_refseq": "CARDIF; IPS-1; IPS1; MAVS; VISA", "protein_names_uniprotkb": "Mitochondrial antiviral-signaling protein; CARD adapter inducing interferon beta; Cardif; IPS-1; Interferon beta promoter stimulator protein 1; MAVS; Putative NF-kappa-B-activating protein 031N; VISA; Virus-induced-signaling adapter", "protein_names_refseq": "CARD adapter inducing interferon beta; CARD adaptor inducing IFN-beta; IFN-B promoter stimulator 1; interferon beta promoter stimulator protein 1; mitochondrial antiviral-signaling protein isoform 2; putative NF-kappa-B-activating protein 031N; virus-induced signaling adaptor; virus-induced-signaling adapter", "tax_id": 9606, "disease": "", "pathway": " (hsa:57506); (R-HSA-168928); (R-HSA-5689896); (R-HSA-918233); (R-HSA-933541); (R-HSA-933542); (R-HSA-933543); (R-HSA-936440); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-9833109); (R-HSA-9833482); (R-HSA-9920588)", "pathway_count": 13, "publication_count": 464, "publication_id_list": "10.1101/2023.09.13.557529;10082512;10082513;10348343;10385526;10400669;10421793;10581243;10620360;10626894;10648614;10848580;10866685;11002417;11073981;11096080;11134010;11152499;11156368;11238103;11238927;11244049;11278865;11313968;11337501;11350938;11438540;11463333;11500375;11717445;11781817;11909525;11939789;11985496;12019269;12107169;12133833;12221085;12231563;12397061;12604599;12692549;12759408;12761501;12882984;12884866;1373135;14585331;14661020;14703513;15208624;15229216;15258597;15299030;15334086;15361868;15737233;15752359;15907845;16125763;16127453;16153868;16177806;16179258;16179259;16281057;16301520;16306936;16373505;16394098;16431927;16585540;16600570;16618810;16699525;16715065;16717090;16846591;16858409;16914100;1695551;16964243;16982605;17020950;17035307;17079286;17093192;17190786;17196820;17251292;17270291;17327220;17392790;17412287;17438296;17460044;17526488;17596301;17600090;17709747;17761676;17991829;18057259;18088087;18096616;18200010;18207245;18307765;18496526;18578522;18591409;18636086;18669648;18691976;18761323;18767875;18835251;18957415;19017631;19125153;19164550;19193793;19229320;19380580;19383985;19398035;19413330;19415658;19416861;19416887;19419966;19464428;19479062;19484123;19531363;19631370;19664994;19666475;19668221;19690332;19710021;19733181;19734229;19754307;19804757;19818707;19838063;19881509;19893624;19996094;20043992;20058876;20068231;20127681;20166139;20304918;20395957;20403326;20434986;20451243;20519500;20553488;20627800;20628368;20685959;21072047;21123651;21170385;21294215;21436888;21518807;21566123;21632562;21636578;21813773;21937648;21978664;21994559;22046132;22124327;22214662;22253733;22312431;22383950;22427742;2247437;22619329;22844514;22941947;22986343;23084476;23087404;23186163;23229543;23301498;23399697;23453971;23481700;23483519;23545497;23582325;23711367;23732991;23827681;24173023;24275569;24347309;24390337;24509444;24569476;24610782;24622840;24623135;24659800;24722368;24753571;24755855;24854014;25018021;25135833;25228397;25576301;25636800;25645662;25653431;25764917;25810538;25848059;25904330;25907116;26154972;26246171;26280536;26320399;26378163;26432638;26446704;26488609;26716879;26817845;26992070;27164085;27203180;27208315;27269119;27302953;27423063;27600516;27736772;27832191;27862975;27920218;27974558;27980081;27992402;28011935;28069888;28148787;28167698;28228285;28253362;28281686;28414768;28510447;28566380;28657654;28764923;28765891;28832583;28834231;29170442;29175459;29231267;29237092;29242379;29294448;29348664;29351928;29394925;29395325;29440070;29501855;29508533;29557506;29632711;29743353;29789417;30059200;30174290;30185776;30315122;30379171;30429286;30543776;30550790;30558248;30620550;30770398;30779550;30833945;30878284;31031002;31034780;31092671;31154438;31231549;31373491;31390091;31461653;31492838;31522117;31530632;31844290;31848261;31850239;31867016;32093270;32119511;32152943;32157095;32161166;32353859;32357974;32428392;32432721;32488085;32502341;32574038;32589897;32716602;32726803;32728199;32778820;32801355;32897882;32938616;32938750;32953130;32979938;32983136;33024073;33043033;33060197;33097660;33110251;33139700;33205822;33232374;33298915;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33603735;33718825;33723219;33723527;33727702;33801464;33807682;33808629;33849972;33895773;33911136;33912179;33963333;33968037;33981976;33989516;33990585;34021074;34054808;34084167;34087483;34110168;34166398;34171305;34174402;34239064;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34597346;34880843;34932366;34974812;35051231;35102342;35132862;35254053;35289036;35318648;35513511;35580925;35643212;35685460;35947956;36010968;36284347;36712380;36943869;37051252;37127961;37311461;37316325;37340703;37541260;37582970;37656786;37938771;38016475;38140545;38665916;38673764;38761407;38995016;39037956;39302247;39531497;39534244;39589880;40042308;40307207;7491766;7515177;7545299;7565688;7693978;7737357;7903669;8576172;8576179;8661426;8810342;8910500;9008162;9034343;9079663;9442054;9463386;9521856;9528799;9541017;9660935;9687506;9689078;9737981;9819388;9822609;9920933;9989503", "class_list": "", "function": "Activation of the RIG-I/MAVS Signaling Pathway during Human Adenovirus Type 3 Infection Impairs the Pro-Inflammatory Response Induced by Secondary Infection with Staphylococcus aureus. Publication Status: Online-Only, [RefSeq, PubMed]; Adapter required for innate immune defense against viruses (PubMed:16125763, PubMed:16127453, PubMed:16153868, PubMed:16177806, PubMed:19631370, PubMed:20127681, PubMed:20451243, PubMed:21170385, PubMed:23087404, PubMed:27992402, PubMed:33139700, PubMed:37582970, PubMed:39589880, PubMed:38995016). Acts downstream of DHX33, RIGI and IFIH1/MDA5, which detect intracellular dsRNA produced during viral replication, to coordinate pathways leading to the activation of NF-kappa-B, IRF3 and IRF7, and to the subsequent induction of antiviral cytokines such as IFNB and RANTES (CCL5) (PubMed:16125763, PubMed:16127453, PubMed:16153868, PubMed:16177806, PubMed:19631370, PubMed:20127681, PubMed:20451243, PubMed:20628368, PubMed:21170385, PubMed:23087404, PubMed:25636800, PubMed:27736772, PubMed:33110251, PubMed:40042308). Peroxisomal and mitochondrial MAVS act sequentially to create an antiviral cellular state (PubMed:20451243). Upon viral infection, peroxisomal MAVS induces the rapid interferon-independent expression of defense factors that provide short-term protection, whereas mitochondrial MAVS activates an interferon-dependent signaling pathway with delayed kinetics, which amplifies and stabilizes the antiviral response (PubMed:20451243). May activate the same pathways following detection of extracellular dsRNA by TLR3 (PubMed:16153868). May protect cells from apoptosis (PubMed:16125763). Involved in NLRP3 inflammasome activation by mediating NLRP3 recruitment to mitochondria (PubMed:23582325)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mitochondrial antiviral signaling (MAVS) mediates the activation of NF-kappaB and IRF 3 in response to viral infection, and transmembrane domain targets MAVS to the mitochondria, implicating a new role of mitochondria in innate immunity., [RefSeq, PubMed]; The Interaction between SARS-CoV-2 Nucleocapsid Protein and UBC9 Inhibits MAVS Ubiquitination by Enhancing Its SUMOylation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral innate immunity. [provided by RefSeq, Jul 2020]., [RefSeq]", "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": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 30, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 30, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 30, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 33, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 33, "binding_glycan_count": 0, "secondary_ac_list": "A8K6X0;B2BD33;B2BD34;F5H6C8;M1P2Z0;Q2HWT5;Q3I0Y2;Q5T7I6;Q86VY7;Q9H1H3;Q9H4Y1;Q9H8D3;Q9ULE9", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005778 peroxisomal membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0071360 cellular response to exogenous dsRNA;GO:0032727 positive regulation of interferon-alpha production;GO:0060760 positive regulation of response to cytokine stimulus;GO:0070585 protein localization to mitochondrion", "synthesized_glycan_count": 0, "hit_score": 49.9, "record_id": "Q7Z434-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H257-1", "uniprot_id": [ { "id": "CARD9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H257", "type": "external" } ], "mass": 62241.0, "length": 536, "protein_name": "Caspase recruitment domain-containing protein 9", "gene_name": "CARD9", "organism": "Human", "refseq_name": "caspase recruitment domain-containing protein 9 isoform 1", "refseq_ac": [ { "id": "NP_434700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_434700", "type": "external" } ], "gene_names_uniprotkb": "CARD9", "gene_names_refseq": "CANDF2; CARD9; IMD103; hCARD9", "protein_names_uniprotkb": "Caspase recruitment domain-containing protein 9; hCARD9", "protein_names_refseq": "caspase recruitment domain protein 9; caspase recruitment domain-containing protein 9 isoform 1; caspase recruitment domain-containing protein 9", "tax_id": 9606, "disease": "chronic mucocutaneous candidiasis (Disease Ontology:DOID:2058); primary immunodeficiency disease (Disease Ontology:DOID:612); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:64170); (R-HSA-168638); (R-HSA-5607764)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10187770;10224040;10329646;10702308;10779524;10882101;11053425;11057907;11087742;11090634;11262391;11325957;11460167;11606584;12473183;12514169;12527755;12791997;12796777;12917691;14514672;14633987;15105418;15125833;15327770;15620648;15845454;16341139;17047224;17135271;17158449;17303577;17496917;17562858;17936701;18079694;18088087;19359218;19535145;19864672;19934406;20038579;20193029;20300203;20538596;21525931;21966355;22069318;22265677;23186163;23335372;24074955;24131138;24231284;24704721;24960071;25057046;25372963;25702837;25892735;25933095;26044242;26440558;26488816;26521038;26658378;26679537;26941346;26961233;26992070;27777981;27846572;28391957;28832583;28834231;28984994;29080677;29242379;29307770;29557506;29769354;29786170;30206119;30429286;30524438;31154438;31296852;31469433;31844290;31848261;32157095;32387766;32897882;32983136;33093067;33548172;33558980;33592498;33968037;34087483;34105348;34509645;35580925;36284347;37213160;37461235;37991197;38473845;38483073;7499357;7612269;8972730;9430721;9744859", "class_list": "", "function": "Adapter protein that plays a key role in innate immune response against fungi by forming signaling complexes downstream of C-type lectin receptors (PubMed:26961233, PubMed:33558980). CARD9-mediated signals are essential for antifungal immunity against a subset of fungi from the phylum Ascomycota (PubMed:24231284, PubMed:25057046, PubMed:25702837, PubMed:26521038, PubMed:26679537, PubMed:26961233, PubMed:27777981, PubMed:29080677, PubMed:33558980). Transduces signals in myeloid cells downstream of C-type lectin receptors CLEC7A (dectin-1), CLEC6A (dectin-2) and CLEC4E (Mincle), which detect pathogen-associated molecular pattern metabolites (PAMPs), such as fungal carbohydrates, and trigger CARD9 activation (By similarity). Upon activation, CARD9 homooligomerizes to form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerization of BCL10 and subsequent recruitment of MALT1: this leads to activation of NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines (PubMed:11053425, PubMed:26488816, PubMed:26961233, PubMed:31296852, PubMed:33558980). CARD9 signaling in antigen-presenting cells links innate sensing of fungi to the activation of adaptive immunity and provides a cytokine milieu that induces the development and subsequent of interleukin 17-producing T helper (Th17) cells (PubMed:24231284). Also involved in activation of myeloid cells via classical ITAM-associated receptors and TLR: required for TLR-mediated activation of MAPK, while it is not required for TLR-induced activation of NF-kappa-B (By similarity). CARD9 can also be engaged independently of BCL10: forms a complex with RASGRF1 downstream of C-type lectin receptors, which recruits and activates HRAS, leading to ERK activation and the production of cytokines (By similarity). Acts as an important regulator of the intestinal commensal fungi (mycobiota) component of the gut microbiota (PubMed:33548172). Plays an essential role in antifungal immunity against dissemination of gut fungi: acts by promoting induction of antifungal IgG antibodies response in CX3CR1(+) macrophages to confer protection against disseminated C.albicans or C.auris infection (PubMed:33548172). Also mediates immunity against other pathogens, such as certain bacteria, viruses and parasites; CARD9 signaling is however redundant with other innate immune responses (By similarity). In response to L.monocytogenes infection, required for the production of inflammatory cytokines activated by intracellular peptidoglycan: acts by connecting NOD2 recognition of peptidoglycan to downstream activation of MAP kinases (MAPK) without activating NF-kappa-B (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CARD9 mutations in patients with fungal infections: An update from the last 5 years., [RefSeq, PubMed]; Data show that pVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by casein kinase 2., [RefSeq, PubMed]; Expression of mir-25-3p, CARD9 and Surviving in Acute Pancreatitis and Predictive Value for Patient Outcome. Publication Status: Online-Only, [RefSeq, PubMed]; Heterozygous CARD9 mutation favors the development of allergic bronchopulmonary aspergillosis., [RefSeq, PubMed]; Regulatory roles of CARD9-BCL10-Rac1 (CBR) signalome in islet beta-cell function in health and metabolic stress: Is there room for MALT1? Review article, [RefSeq, PubMed]; Role of CARD9 in Cell- and Organ-Specific Immune Responses in Various Infections. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [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, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5SXM5;Q5SXM6;Q9H854", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0035591 signaling adaptor activity;GO:0050700 CARD domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032991 protein-containing complex;GO:0032449 CBM complex", "go_biological_process": "GO:0032740 positive regulation of interleukin-17 production;GO:0007165 signal transduction;GO:0046330 positive regulation of JNK cascade;GO:0051260 protein homooligomerization;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q9H257-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q38SD2-1", "uniprot_id": [ { "id": "LRRK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q38SD2", "type": "external" } ], "mass": 225393.0, "length": 2015, "protein_name": "Leucine-rich repeat serine/threonine-protein kinase 1", "gene_name": "LRRK1", "organism": "Human", "refseq_name": "leucine-rich repeat serine/threonine-protein kinase 1", "refseq_ac": [ { "id": "NP_078928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078928", "type": "external" } ], "gene_names_uniprotkb": "LRRK1; KIAA1790", "gene_names_refseq": "LRRK1; OSMD; RIPK6; Roco1", "protein_names_uniprotkb": "Leucine-rich repeat serine/threonine-protein kinase 1; 2.7.11.1", "protein_names_refseq": "leucine-rich repeat serine/threonine-protein kinase 1", "tax_id": 9606, "disease": "Parkinson's disease 8 (Disease Ontology:DOID:0060371); late onset Parkinson's disease (Disease Ontology:DOID:0060892); osteosclerotic metaphyseal dysplasia (Disease Ontology:DOID:0081111); osteopetrosis (Disease Ontology:DOID:13533); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:79705)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11237011;16243488;17225181;17344846;22337768;22952686;23481700;23526378;24366607;24714562;24715725;25505266;25880248;25892735;26375851;26728094;26992070;27055475;27829680;27846572;27862975;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29508533;29557506;29632046;29786170;30315122;30379171;30410026;30429286;30779550;31154438;31530632;31571209;31844290;31848261;32119750;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33459343;33717175;33912179;33936100;33968037;34357683;34509645;34798323;34932366;35051231;35580925;36010968;36040231;36241641;36284347;37558661;37857821", "class_list": "", "function": "Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity., [RefSeq, PubMed]; Comparison of evolutionary interspecies sequences of LRRK1 and LRRK2 suggests they diverged from a common founder gene implicated in Parkinson disease., [RefSeq, PubMed]; Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms. Erratum:[Biochem J. 2025 Apr 10;482(7):357-358. doi: 10.1042/BCJ20200937_COR. PMID: 40219994], [RefSeq, PubMed]; LRRK1 plays a critical role in the regulation of bone mass in humans., [RefSeq, PubMed]; PKC isoforms activate LRRK1 kinase by phosphorylating conserved residues (Ser1064, Ser1074 and Thr1075) within the CORB GTPase domain., [RefSeq, PubMed]; Serine/threonine-protein kinase which phosphorylates RAB proteins involved in intracellular trafficking (PubMed:36040231). Phosphorylates RAB7A; this activity is dependent on protein kinase C (PKC) activation (PubMed:36040231, PubMed:37558661, PubMed:37857821). Plays a role in the negative regulation of bone mass, acting through the maturation of osteoclasts (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Structure and regulation of full-length human leucine-rich repeat kinase 1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]., [RefSeq]; We report the molecular characterization of human LRRK1 and show for the first time that LRRK1 is a functional protein kinase and a GDP/GTP-binding protein. We propose a model in which LRRK1 cycles between a GTP-bound active and a GDP-bound inactive state GeneRIF: LRRK1 binds GTP and GDP via its Roc domain and autophosphorylation activity is selectively triggered by GTP. Kinase activity was decreased following introduction of mutations homologous to those of LRRK2 that have been associated with Parkinson's disease., [RefSeq, 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, "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": 5, "reported_mutagensis": 22, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6NVH5;Q6NYC0;Q6ZNL9;Q6ZNM9;Q96JN5;Q9H5S3", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "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:0005524 ATP binding;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0090263 positive regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q38SD2-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06576-1", "uniprot_id": [ { "id": "ATPB_HUMAN", "url": "https://www.uniprot.org/uniprot/P06576", "type": "external" } ], "mass": 56560.0, "length": 529, "protein_name": "ATP synthase F(1) complex subunit beta, mitochondrial", "gene_name": "ATP5F1B", "organism": "Human", "refseq_name": "ATP synthase F(1) complex subunit beta, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001677", "type": "external" } ], "gene_names_uniprotkb": "ATP5F1B; ATP5B; ATPMB; ATPSB", "gene_names_refseq": "ATP5B; ATP5F1B; ATPMB; ATPSB; DYT38; HEL-S-271; HUMOP2", "protein_names_uniprotkb": "ATP synthase F(1) complex subunit beta, mitochondrial; 7.1.2.2; ATP synthase F1 subunit beta", "protein_names_refseq": "ATP synthase F(1) complex subunit beta, mitochondrial precursor; ATP synthase F(1) complex subunit beta, mitochondrial; ATP synthase subunit beta, mitochondrial; ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide; epididymis secretory protein Li 271; mitochondrial ATP synthase beta subunit; mitochondrial ATP synthetase, beta subunit", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); polycystic ovary syndrome (Disease Ontology:DOID:11612); transient cerebral ischemia (Disease Ontology:DOID:224); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 (MONDO:MONDO:0859302); dystonia 38, susceptibility to (MONDO:MONDO:0980989)", "pathway": " (hsa:506); (R-HSA-1268020); (R-HSA-163210); (R-HSA-2151201); (R-HSA-8949613); (R-HSA-9837999)", "pathway_count": 6, "publication_count": 234, "publication_id_list": 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"class_list": "", "function": "Catalytic subunit beta, 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. ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel. These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk. 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. In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro. With the subunit alpha (ATP5F1A), forms the catalytic core in the F(1) domain., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation., [RefSeq, PubMed]; Produces ATP from ADP in the presence of a proton gradient across the membrane., [UniProtKB, UniProtKB]; This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants in ATP5F1B are associated with dominantly inherited dystonia., [RefSeq, 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, "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": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K4X0;Q14283", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "3.4.24.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.64", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "2.1.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.3.3", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "7.1.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.8", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "1.1.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.41", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "3.4.21.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.92", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "1.1.98.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.98.-", "type": "external" }, { "id": "2.5.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.39", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0043532 angiostatin binding;GO:0046933 proton-transporting ATP synthase activity, rotational mechanism;GO:0042288 MHC class I protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0005886 plasma membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0006091 generation of precursor metabolites and energy;GO:0006754 ATP biosynthetic process;GO:0043536 positive regulation of blood vessel endothelial cell migration;GO:0001649 osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "P06576-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63172-1", "uniprot_id": [ { "id": "DYLT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P63172", "type": "external" } ], "mass": 12452.0, "length": 113, "protein_name": "Dynein light chain Tctex-type 1", "gene_name": "DYNLT1", "organism": "Human", "refseq_name": "dynein light chain Tctex-type 1 isoform 1", "refseq_ac": [ { "id": "NP_006510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006510", "type": "external" } ], "gene_names_uniprotkb": "DYNLT1; TCTEL1; TCTEX-1; TCTEX1", "gene_names_refseq": "CW-1; DYNLT1; TCTEL1; TCTEX1; tctex-1", "protein_names_uniprotkb": "Dynein light chain Tctex-type 1; Protein CW-1; T-complex testis-specific protein 1 homolog", "protein_names_refseq": "T-complex testis-specific protein 1 homolog; dynein light chain Tctex-type 1 isoform 1; t-complex-associated-testis-expressed 1-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6993); (R-HSA-6798695); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 54, "publication_id_list": "11747608;11751937;14519844;14583445;14762106;15084397;15194795;16880273;17965411;18491316;18647839;20068231;21166973;21394082;21911577;22223895;23650620;25576301;25928583;26092250;26992070;27108190;27502274;28228285;28510447;29242379;29393594;29557506;29693725;29902443;30315122;30410026;30484775;30599162;30833945;31597899;31844290;32157095;32161166;32488085;32983136;33177556;33592498;33912179;34087483;34171305;35051231;35215846;35580925;36010968;36215666;36241641;8646886;8692836", "class_list": "", "function": "(Microbial infection) Is involved in intracellular targeting of D-type retrovirus gag polyproteins to the cytoplasmic assembly site., [UniProtKB, PubMed]; Association with Tctex-1 and, hence, with the dynein motor complex may offer an explanation for how poliovirus hijacks the cellular transport machinery to retrogradely ascend along the axon to the neuronal cell body., [RefSeq, PubMed]; Component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Required for structural and functional integrity of cilia (By similarity). Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Binds to transport cargos and is involved in apical cargo transport such as rhodopsin-bearing vesicles in polarized epithelia., [UniProtKB, UniProtKB]; Plays a role in neuronal morphogenesis; the function is independent of cytoplasmic dynein and seems to be coupled to regulation of the actin cytoskeleton by enhancing Rac1 activity. The function in neurogenesis may be regulated by association with a G protein beta-gamma dimer. May function as a receptor-independent activator of heterotrimeric G protein signaling; the activation appears to be independent of a nucleotide exchange. Plays a role in regulating neurogenesis; inhibits the genesis of neurons from precursor cells during cortical development presumably by antagonizing ARHGEF2. Involved in the regulation of mitotic spindle orientation (By similarity). Unrelated to the role in retrograde microtubule-associated movement may play a role in the dimerization of cytoplasmic proteins/domains such as for ACVR2B. Binds to the cytoplasmic domain of ACVR2B and, in vitro, inhibits ACVR2B signaling (PubMed:27502274)., [UniProtKB, PubMed]; This gene encodes a component of the motor complex, cytoplasmic dynein, which transports cellular cargo along microtubules in the cell. The encoded protein regulates the length of primary cilia which are sensory organelles found on the surface of cells. The protein encoded by this gene interacts with viral proteins, like the minor capsid protein L2 of human papillomavirus, and is required for dynein-mediated delivery of the viral nucleic acid to the host nucleus. This protein interacts with oncogenic nucleoporins to disrupt gene regulation and cause leukemic transformation. Pseudogenes of this gene are present on chromosomes 4 and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "Q15763;Q5VTU4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0099503 secretory vesicle;GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005819 spindle", "go_biological_process": "GO:0019060 intracellular transport of viral protein in host cell;GO:0075521 microtubule-dependent intracellular transport of viral material towards nucleus;GO:0007399 nervous system development;GO:0051301 cell division;GO:0046718 symbiont entry into host cell", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "P63172-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4G6-1", "uniprot_id": [ { "id": "TLN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4G6", "type": "external" } ], "mass": 271613.0, "length": 2542, "protein_name": "Talin-2", "gene_name": "TLN2", "organism": "Human", "refseq_name": "talin-2", "refseq_ac": [ { "id": "NP_055874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055874", "type": "external" } ], "gene_names_uniprotkb": "TLN2; KIAA0320", "gene_names_refseq": "ILWEQ; TLN2", "protein_names_uniprotkb": "Talin-2", "protein_names_refseq": "talin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:83660)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11527381;12422219;15302935;16964243;18083107;18669648;19413330;19651622;19664994;20068231;21406692;22645359;23186163;24275569;24714562;24715725;25576301;25645385;26024233;26154972;26811146;26992070;27223613;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30192525;30315122;30379171;30429286;30484775;30524438;31154438;31217245;31611695;31637018;31844290;31848261;32157095;32198023;32350084;32387766;32488085;32502341;32605925;32657269;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33968037;33981976;34211107;34509645;34561969;34932366;35051231;35154160;35251023;35580925;36010968;36215666;36241641;36329586;37460977;37938771", "class_list": "", "function": "A distinct talin2 structure directs isoform specificity in cell adhesion., [RefSeq, PubMed]; As a major component of focal adhesion plaques that links integrin to the actin cytoskeleton, may play an important role in cell adhesion. Recruits PIP5K1C to focal adhesion plaques and strongly activates its kinase activity (By similarity)., [UniProtKB]; Phosphoinositides regulate force-independent interactions between talin, vinculin, and actin. Publication Status: Online-Only, [RefSeq, PubMed]; Talin2 and KANK2 functionally interact to regulate microtubule dynamics, paclitaxel sensitivity and cell migration in the MDA-MB-435S melanoma cell line. Publication Status: Online-Only, [RefSeq, PubMed]; Talin2 mediates secretion and trafficking of matrix metallopeptidase 9 during invadopodium formation., [RefSeq, PubMed]; This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008]., [RefSeq]; We show that the predominant brain splice variant of PtdInsPKI gamma (PtdInsPKI gamma-90) binds, by means of a short carboxy-terminal peptide, to the FERM domain of talin, and is strongly activated by this interaction, [RefSeq, PubMed]; [Expression of miR-4324 and its targeted gene Talin2 in breast cancer]., [RefSeq, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NLB8", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005178 integrin binding;GO:0005200 structural constituent of cytoskeleton;GO:0051015 actin filament binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007155 cell adhesion;GO:0030036 actin cytoskeleton organization;GO:0098609 cell-cell adhesion;GO:0007043 cell-cell junction assembly;GO:0099140 presynaptic actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9Y4G6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEC5-1", "uniprot_id": [ { "id": "CTSR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEC5", "type": "external" } ], "mass": 90091.0, "length": 780, "protein_name": "Cation channel sperm-associated protein 1", "gene_name": "CATSPER1", "organism": "Human", "refseq_name": "cation channel sperm-associated protein 1", "refseq_ac": [ { "id": "NP_444282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_444282", "type": "external" } ], "gene_names_uniprotkb": "CATSPER1", "gene_names_refseq": "CATSPER1; CATSPER; SPGF7", "protein_names_uniprotkb": "Cation channel sperm-associated protein 1; CatSper1; hCatSper", "protein_names_refseq": "cation channel sperm-associated protein 1; hCatSper; sperm ion channel; sperm-associated cation channel 1", "tax_id": 9606, "disease": "spermatogenic failure 7 (Disease Ontology:DOID:0070173)", "pathway": " (hsa:117144); (R-HSA-1300642)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11595941;14688170;16625279;16740636;17227845;17347248;17460039;19344877;20144758;20648059;21412338;21412339;23530196;26989199;31848261;32157095;32387766;32488085;32897882;32938616;33456575;34440724;35051231;3530540;38335261;38366201;9452476", "class_list": "", "function": "Both protein and non-protein components in extracellular vesicles of human seminal plasma improve human sperm function via CatSper-mediated calcium signaling., [RefSeq, PubMed]; CRISP2, CATSPER1 and PATE1 Expression in Human Asthenozoospermic Semen. Publication Status: Online-Only, [RefSeq, PubMed]; Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008]., [RefSeq]; Flagellar pH homeostasis mediated by Na+/H+ exchangers regulates human sperm functions through coupling with CatSper and KSper activation., [RefSeq, PubMed]; Overview of the complications of diabetes., [RefSeq, PubMed]; Pore-forming subunit of the CatSper complex, a sperm-specific voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte., [UniProtKB, PubMed, PubMed]; Roles of CatSper channels in the pathogenesis of asthenozoospermia and the therapeutic effects of acupuncture-like treatment on asthenozoospermia. 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, "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": 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": "Q96P76", "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:0005227 calcium-activated cation channel activity;GO:0005245 voltage-gated calcium channel activity", "go_cellular_component": "GO:0036128 CatSper complex;GO:0005886 plasma membrane;GO:0036126 sperm flagellum;GO:0097228 sperm principal piece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0006816 calcium ion transport;GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation;GO:0060296 regulation of cilium beat frequency involved in ciliary motility", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8NEC5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZU0-1", "uniprot_id": [ { "id": "FLRT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZU0", "type": "external" } ], "mass": 73004.0, "length": 649, "protein_name": "Leucine-rich repeat transmembrane protein FLRT3", "gene_name": "FLRT3", "organism": "Human", "refseq_name": "leucine-rich repeat transmembrane protein FLRT3 precursor", "refseq_ac": [ { "id": "NP_037413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037413", "type": "external" } ], "gene_names_uniprotkb": "FLRT3; KIAA1469; PRO1865", "gene_names_refseq": "FLRT3; HH21", "protein_names_uniprotkb": "Leucine-rich repeat transmembrane protein FLRT3; Fibronectin-like domain-containing leucine-rich transmembrane protein 3", "protein_names_refseq": "fibronectin-like domain-containing leucine-rich transmembrane protein 3; leucine-rich repeat transmembrane protein FLRT3 precursor; leucine-rich repeat transmembrane protein FLRT3", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 21 with or without anosmia (Disease Ontology:DOID:0090093); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:23767); (R-HSA-376176); (R-HSA-5654687)", "pathway_count": 3, "publication_count": 38, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10102266;10102268;10644439;10892742;11375980;12508280;12975309;14688794;14706654;15063764;16303743;16872596;17565045;18593871;20068231;20375348;20421966;21248752;22405201;23481700;23584533;23643382;25813380;26235030;27421969;29557506;29741879;29789417;30429286;32161166;33392160;33711669;35560224;37074911;38509727", "class_list": "", "function": "FLRT3 and TGF-beta/SMAD4 signalling: Impacts on apoptosis, autophagy and ion channels in supraventricular tachycardia., [RefSeq, PubMed]; Functions in cell-cell adhesion, cell migration and axon guidance, exerting an attractive or repulsive role depending on its interaction partners. Plays a role in the spatial organization of brain neurons. Plays a role in vascular development in the retina (By similarity). Plays a role in cell-cell adhesion via its interaction with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells (PubMed:26235030). Interaction with the intracellular domain of ROBO1 mediates axon attraction towards cells expressing NTN1. Mediates axon growth cone collapse and plays a repulsive role in neuron guidance via its interaction with UNC5B, and possibly also other UNC-5 family members (By similarity). Promotes neurite outgrowth (in vitro) (PubMed:14706654). Mediates cell-cell contacts that promote an increase both in neurite number and in neurite length. Plays a role in the regulation of the density of glutamaergic synapses. Plays a role in fibroblast growth factor-mediated signaling cascades. Required for normal morphogenesis during embryonic development, but not for normal embryonic patterning. Required for normal ventral closure, headfold fusion and definitive endoderm migration during embryonic development. Required for the formation of a normal basement membrane and the maintenance of a normal anterior visceral endoderm during embryonic development (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]; Low FLRT3 expression is associated with lung graft dysfunction., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results suggest that UNC5 and LPHN3 can simultaneously bind to FLRT3, forming a trimeric complex, and that FLRT3 may form transsynaptic complexes with both LPHN3 and UNC5., [RefSeq, PubMed]; TGF-beta-Induced FLRT3 Attenuation Is Essential for Cancer-Associated Fibroblast-Mediated Epithelial-Mesenchymal Transition in Colorectal Cancer., [RefSeq, PubMed]; This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010]., [RefSeq]; This study demonistrated that LPHN3 and its ligand FLRT3 play an important role in glutamatergic synapse development., [RefSeq, PubMed]; Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe., [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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "D3DW20;Q542Z9;Q96K39;Q96K42;Q96KB1;Q9P259", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0042803 protein homodimerization activity;GO:0045499 chemorepellent activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0032584 growth cone membrane;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0007507 heart development;GO:0031175 neuron projection development;GO:0098609 cell-cell adhesion;GO:0007416 synapse assembly;GO:0048598 embryonic morphogenesis", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9NZU0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02545-1", "uniprot_id": [ { "id": "LMNA_HUMAN", "url": "https://www.uniprot.org/uniprot/P02545", "type": "external" } ], "mass": 74139.0, "length": 664, "protein_name": "Prelamin-A/C", "gene_name": "LMNA", "organism": "Human", "refseq_name": "lamin isoform D", "refseq_ac": [ { "id": "NP_001244303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244303", "type": "external" } ], "gene_names_uniprotkb": "LMNA; LMN1", "gene_names_refseq": "CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPLD2; FPLD; FPL; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNA; LMNC; LMNL1; MADA; PRO1", "protein_names_uniprotkb": "Prelamin-A/C; 70 kDa lamin; Renal carcinoma antigen NY-REN-32", "protein_names_refseq": "70 kDa lamin; epididymis secretory sperm binding protein; lamin A/C-like 1; lamin C; lamin isoform D; mandibuloacral dysplasia type A; prelamin-A/C; progerin; renal carcinoma antigen NY-REN-32", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); familial partial lipodystrophy (Disease Ontology:DOID:0050440); congenital muscular dystrophy (Disease Ontology:DOID:0050557); atrioventricular block (Disease Ontology:DOID:0050820); familial partial lipodystrophy type 2 (Disease Ontology:DOID:0070202); autosomal dominant Emery-Dreifuss muscular dystrophy 2 (Disease Ontology:DOID:0070247); autosomal recessive Emery-Dreifuss muscular dystrophy 3 (Disease Ontology:DOID:0070248); restrictive dermopathy 2 (Disease Ontology:DOID:0070370); aortic valve disease 2 (Disease Ontology:DOID:0080334); mandibuloacral dysplasia (Disease Ontology:DOID:0081127); mandibuloacral dysplasia type A lipodystrophy (Disease Ontology:DOID:0081128); progeroid syndrome (Disease Ontology:DOID:0081332); Charcot-Marie-Tooth disease type 2B1 (Disease Ontology:DOID:0110156); dilated cardiomyopathy 1A (Disease Ontology:DOID:0110425); congenital muscular dystrophy due to LMNA mutation (Disease Ontology:DOID:0110640); dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (Disease Ontology:DOID:0111584); otitis media (Disease Ontology:DOID:10754); lipoatrophic diabetes mellitus (Disease Ontology:DOID:11712); Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726); dilated cardiomyopathy (Disease Ontology:DOID:12930); transient cerebral ischemia (Disease Ontology:DOID:224); arteriosclerosis (Disease Ontology:DOID:2349); progeria (Disease Ontology:DOID:3911); myopathy (Disease Ontology:DOID:423); Werner syndrome (Disease Ontology:DOID:5688); muscle tissue disease (Disease Ontology:DOID:66); cerebrovascular disease (Disease Ontology:DOID:6713); lipodystrophy (Disease Ontology:DOID:811); achalasia (Disease Ontology:DOID:9164); type 2 diabetes mellitus (Disease Ontology:DOID:9352); muscular dystrophy (Disease Ontology:DOID:9884); heart-hand syndrome, Slovenian type (MONDO:MONDO:0012417)", "pathway": " (hsa:4000); (R-HSA-381038); (R-HSA-6802952)", "pathway_count": 3, "publication_count": 329, "publication_id_list": "10080180;10508479;10514485;10580070;10587585;10601334;10655060;10739751;10739764;10814726;10827079;10908904;10939567;11237011;11503164;11525883;11561226;11792809;11799477;11897440;11901143;12015247;12032588;12057196;12075506;12196663;12204115;12467752;12475961;12486434;12628721;12629077;12649505;12673789;12702809;12714972;12768443;12920062;12927431;14675861;14684700;14985400;15060110;15116427;15140538;15219508;15286156;15302935;15317753;15372542;15466936;15476822;1555589;15622532;15630448;15744034;15998779;16061563;16083285;16156025;16278265;16339967;16461360;16539657;16565220;16645051;16964243;17074750;17081983;17136397;17150192;17250669;17287340;17322306;17711925;17924679;18077418;18212344;18220336;18452278;18491316;18551513;18606848;18611980;18664523;18669648;18691976;18707149;18767875;18808171;18815303;18974108;18991276;19007248;19165338;19167105;19220582;19283854;19323649;19413330;19415658;19427440;19562805;19608861;19651622;19664994;19664995;19691289;19933576;20058876;20068230;20068231;20079404;20112406;20147387;20160190;20166139;20458013;20526349;20848652;21136679;21282569;21406692;21424530;21498514;21724554;21791255;21846512;2188730;21949239;22028470;22121020;22355414;22367880;22424782;22431096;22544926;22645359;22661428;22745804;22967762;23186163;23271734;2344612;23481700;23583981;23666920;23695662;23870088;23977161;23990565;24135138;24275569;24345920;24366607;24485160;24714562;24715725;24741066;25114211;25127216;25204415;25218447;25367160;25502872;25505266;25576301;25645385;25755297;25772364;25907612;26024233;26154972;26237509;26375851;26728094;26758079;26853435;26992070;27234031;27397612;27556400;27600516;27655845;27846572;27862975;27869121;27920218;28063628;28218747;28228285;28510447;28604694;28657654;28832583;28834231;28855257;28904123;29237092;29242379;29331515;29342872;29351928;29393594;29437277;29493099;29508533;29557506;29599122;29632046;29772801;29786170;29789417;30059200;30190500;30192525;30379171;30402260;30410026;30444036;30484775;30620550;30779550;30833945;31092671;31154438;31217245;31222486;31373491;31434876;31492838;31530632;31548606;31611695;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32574038;32870666;32897882;32938616;32938750;32983136;33123756;33141586;33145443;33214551;33298915;33392160;33465208;33520998;33537174;33592498;33605210;33633747;33706103;33717175;33767161;33836029;33936100;33968037;33981976;34019948;34065225;34078123;34087483;34171305;34185709;34211107;34385357;34405274;34509645;3453101;34561969;3462705;34725712;34846842;34932366;35051231;35083852;35132862;35154160;35251023;35254053;35289036;35318648;35494241;35513511;35580925;36010968;36215666;36240223;36241641;36284347;36581221;37217939;37340703;37541260;37788673;37832547;37938771;38665916;39302247;39531497;39534244;39990658;40596516;41518202;7590364;7925482;8175923;8477740;8621584;8666242;9029102;9030603;9037597;9450183;9473480", "class_list": "", "function": "Hutchinson-Gilford progeria appears to represent a novel laminopathy, caused by a single heterozygous splicing mutation in the LMNA gene, leading to a major loss of Lamin A expression, intimately associated to nuclear alterations, [RefSeq, PubMed]; Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane (PubMed:10080180, PubMed:10580070, PubMed:10587585, PubMed:10814726, PubMed:11799477, PubMed:12075506, PubMed:12927431, PubMed:15317753, PubMed:18551513, PubMed:18611980, PubMed:2188730, PubMed:22431096, PubMed:2344612, PubMed:23666920, PubMed:24741066, PubMed:31434876, PubMed:31548606, PubMed:37788673, PubMed:37832547). Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics (PubMed:10080180, PubMed:10580070, PubMed:10587585, PubMed:10814726, PubMed:11799477, PubMed:12075506, PubMed:12927431, PubMed:15317753, PubMed:18551513, PubMed:18611980, PubMed:22431096, PubMed:23666920, PubMed:24741066, PubMed:31548606, PubMed:37788673, PubMed:37832547). Lamin A and C also regulate matrix stiffness by conferring nuclear mechanical properties (PubMed:23990565, PubMed:25127216). The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively (PubMed:2188730, PubMed:2344612). Lamin A and C are present in equal amounts in the lamina of mammals (PubMed:10080180, PubMed:10580070, PubMed:10587585, PubMed:10814726, PubMed:11799477, PubMed:12075506, PubMed:12927431, PubMed:15317753, PubMed:18551513, PubMed:18611980, PubMed:22431096, PubMed:23666920, PubMed:31548606). Also involved in DNA repair: recruited by DNA repair proteins XRCC4 and IFFO1 to the DNA double-strand breaks (DSBs) to prevent chromosome translocation by immobilizing broken DNA ends (PubMed:31548606). Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:10814726, PubMed:11799477, PubMed:18551513, PubMed:22431096). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Observations implicate lamin A in physiological aging, [RefSeq, PubMed]; Prelamin-A/C can accelerate smooth muscle cell senescence (PubMed:20458013). It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence (PubMed:20458013)., [UniProtKB, PubMed]; Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022]., [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": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 28, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 29, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 29, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 74, "reported_mutagensis": 31, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 32, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "B4DI32;D3DVB0;D6RAQ3;E7EUI9;P02546;Q5I6Y4;Q5I6Y6;Q5TCJ2;Q5TCJ3;Q6UYC3;Q969I8;Q96JA2", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0042802 identical protein binding;GO:0005198 structural molecule activity;GO:0160123 structural constituent of nuclear lamina", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0032204 regulation of telomere maintenance;GO:0090435 protein localization to nuclear envelope;GO:0008285 negative regulation of cell population proliferation;GO:0071456 cellular response to hypoxia;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 36.1, "record_id": "P02545-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1M0-1", "uniprot_id": [ { "id": "N62CL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1M0", "type": "external" } ], "mass": 20837.0, "length": 184, "protein_name": "Nucleoporin-62 C-terminal-like protein", "gene_name": "NUP62CL", "organism": "Human", "refseq_name": "nucleoporin-62 C-terminal-like protein isoform 1", "refseq_ac": [ { "id": "NP_060151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060151", "type": "external" } ], "gene_names_uniprotkb": "NUP62CL; NUP62L", "gene_names_refseq": "NUP62CL", "protein_names_uniprotkb": "Nucleoporin-62 C-terminal-like protein", "protein_names_refseq": "nucleoporin 62kDa C-terminal like; nucleoporin-62 C-terminal-like protein isoform 1; nucleoporin-62 C-terminal-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54830)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;25576301;31844290;32357974;33298915;33537174;33936100;33968037;33981976;34171305;35051231;36241641", "class_list": "", "function": "This gene encodes a protein containing a domain found in nucleoporins which are glycoproteins found in nuclear pore complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]., [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": 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": "D3DUX4;Q8WVL6;Q9NXP2", "ec_number_list": [], "go_molecular_function": "GO:0017056 structural constituent of nuclear pore", "go_cellular_component": "GO:0005643 nuclear pore", "go_biological_process": "GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9H1M0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HA1-1", "uniprot_id": [ { "id": "P121A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HA1", "type": "external" } ], "mass": 127720.0, "length": 1249, "protein_name": "Nuclear envelope pore membrane protein POM 121", "gene_name": "POM121", "organism": "Human", "refseq_name": "nuclear envelope pore membrane protein POM 121 isoform 1", "refseq_ac": [ { "id": "NP_001244119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244119", "type": "external" } ], "gene_names_uniprotkb": "POM121; KIAA0618; NUP121; POM121A", "gene_names_refseq": "P145; POM121A; POM121", "protein_names_uniprotkb": "Nuclear envelope pore membrane protein POM 121; Nuclear envelope pore membrane protein POM 121A; Nucleoporin Nup121; Pore membrane protein of 121 kDa", "protein_names_refseq": "POM121 membrane glycoprotein; nuclear envelope pore membrane protein POM 121 isoform 1; nuclear envelope pore membrane protein POM 121A; nuclear envelope pore membrane protein POM 121; nuclear pore membrane protein 121 kDa; nucleoporin Nup121", "tax_id": 9606, "disease": "", "pathway": " (hsa:9883); (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)", "pathway_count": 32, "publication_count": 429, "publication_id_list": "10205180;10228171;10323864;10444065;10489353;10526235;10531003;10556282;10574707;10601273;10601333;10668806;10725331;10759568;10827188;10846107;10851237;10862613;10911995;10920397;10954706;11014198;11073998;11095724;11112487;11118210;11124902;11157743;11231159;11231581;11256625;11259411;11259602;11289803;11333016;11451485;11455963;11502751;11514627;11579093;11709553;11714716;11727826;11739738;11747420;11748230;11756420;11788588;11792325;11836381;11871657;11889051;11909533;11932251;11960997;12003494;12019269;12027805;12032081;12065586;12072510;12093754;12095920;12121577;12138183;12149243;12196509;12228227;12393906;12441251;12525615;12526808;12582176;12589057;12692549;12711671;12729736;12747803;12759408;12776181;12802065;12832072;12853476;12857923;12917326;12974469;14516784;14578449;14627435;14701874;15082759;15109492;15120988;15131269;15161980;15175327;15199155;15208624;1531330;15317868;15355988;15364926;15378033;15485925;15574331;15592428;15608651;15702989;15731250;15802566;15823533;15829507;15831457;1586970;15931174;15940266;15959518;15989970;16009940;16030353;16112642;16122702;16139798;16140760;16194093;16278218;16314397;16352599;16361254;16407192;16428300;16478998;16608850;16608852;16626738;16688858;16699525;16710424;16715065;16775314;16810316;16815975;16872604;16914094;16933365;17000901;17018294;17081640;17098863;17132145;17183683;17204286;17224653;17235358;17289916;17317185;17376915;17412958;1754405;17690096;17693435;17698605;17705785;17900573;18203656;18226598;18235501;18235502;18287095;18305167;18316408;18364396;18381449;18394993;18408014;18411249;18423201;18535146;18550409;18583345;18625722;18628979;18669648;18691969;18708356;18809514;18946085;18984158;19073728;19125153;19229036;19270716;19287951;1944575;19494120;19596686;19622798;19640981;19682613;19706679;19779455;1985200;19914676;19956565;20016594;20016603;20068230;20098713;20129943;20133869;2017161;2017166;20190268;20219937;20300531;20308324;20351170;20385878;20417598;20630994;20663916;20705237;20797632;20797634;20953181;20972456;20974814;21098080;21147198;21167178;21284855;21311021;21335236;21406692;21450806;21550342;21554500;21559454;21593607;21647297;21690215;22174689;22402492;22457066;22464730;22465953;22493095;22508508;22541429;22635276;22661230;22732409;22735644;22751501;22825850;22893130;22940245;22941947;22944664;23092970;23299939;23349863;23481700;23582887;23750026;23804756;23826332;23871147;24002598;24027577;24068740;24369422;2470644;24715725;24782567;24870230;25114211;25218447;25391492;25418920;25576301;25602437;25640237;25704882;25723178;25849199;26154972;26375851;26572645;26992070;27068747;27501258;27846572;28228285;28415052;28514659;28834231;29242379;29351928;29437277;30059200;30192525;30355688;30360396;30620550;30761409;31217245;31492838;31844290;31850239;32157095;32353859;32357974;32387766;32428392;32502341;32589897;32726803;32728199;32897882;32938616;32938750;32953130;32979938;32983136;33016327;33024073;33060197;33097660;33110251;33141586;33214551;33296260;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33963333;33989516;33990585;34019948;34021074;34054808;34084167;34110168;34166398;34211107;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34597346;35051231;35102342;35132862;35251023;35254053;35289036;35513511;35561310;35580925;35643212;35725938;37051252;37217939;38177114;38665916;39302247;39531497;39534244;40596516;6261960;6930639;7559393;7585962;7759547;7769657;7828588;7878053;7958838;8113738;8196654;8313914;8721986;8805303;8946918;9019411;9092824;9305631;9405152;9412458;9436978;9452416;9497385;9512417;9525617;9582382;9618489;9651582;9660920;9660949;9755184;9756909;9837918;9845364;9873016;9885291;9920933", "class_list": "", "function": "Clinical Significance of POM121 Expression in Lung Cancer., [RefSeq, PubMed]; Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL)., [UniProtKB, PubMed]; Nuclear pore protein POM121 regulates subcellular localization and transcriptional activity of PPARgamma. Publication Status: Online-Only, [RefSeq, PubMed]; POM121 is a novel marker for predicting the prognosis of laryngeal cancer., [RefSeq, PubMed]; RNAi experiments showed that efficient depletion of both Pom121 proteins significantly reduces assembled nuclear pore complexes on nuclear envelope., [RefSeq, PubMed]; This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]., [RefSeq]; Up-regulation of POM121 is linked to prostate cancer aggressiveness and serves as a prognostic biomarker., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "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": 51, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 51, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 51, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 87, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 54, "binding_glycan_count": 0, "secondary_ac_list": "A6NFS9;A8CDT4;A8K933;A8MXF9;O75115;Q96DI0;Q9H9X1;Q9Y2N3;Q9Y4S7", "ec_number_list": [], "go_molecular_function": "GO:0017056 structural constituent of nuclear pore;GO:0008139 nuclear localization sequence binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0051028 mRNA transport;GO:0006405 RNA export from nucleus;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 48.2, "record_id": "Q96HA1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14503-1", "uniprot_id": [ { "id": "BHE40_HUMAN", "url": "https://www.uniprot.org/uniprot/O14503", "type": "external" } ], "mass": 45510.0, "length": 412, "protein_name": "Class E basic helix-loop-helix protein 40", "gene_name": "BHLHE40", "organism": "Human", "refseq_name": "class E basic helix-loop-helix protein 40", "refseq_ac": [ { "id": "NP_003661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003661", "type": "external" } ], "gene_names_uniprotkb": "BHLHE40; BHLHB2; DEC1; SHARP2; STRA13", "gene_names_refseq": "BHLHB2; BHLHE40; Clast5; DEC1; HLHB2; SHARP-2; SHARP2; STRA13; Stra14", "protein_names_uniprotkb": "Class E basic helix-loop-helix protein 40; Class B basic helix-loop-helix protein 2; DEC1; Differentially expressed in chondrocytes protein 1; Enhancer-of-split and hairy-related protein 2; SHARP-2; Stimulated by retinoic acid gene 13 protein; bHLHb2; bHLHe40", "protein_names_refseq": "basic helix-loop-helix domain containing, class B, 2; class B basic helix-loop-helix protein 2; class E basic helix-loop-helix protein 40; differentially expressed in chondrocytes 1; differentially expressed in chondrocytes protein 1; differentiated embryo chondrocyte expressed gene 1; enhancer-of-split and hairy-related protein 2; stimulated by retinoic acid gene 13 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:8553); (R-HSA-1368108); (R-HSA-9931510)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "10857746;11018023;11162494;11226878;11241162;11278694;12130638;12397359;12406875;12738229;14672706;14750904;15193144;15500444;15560782;16857194;17994337;18317514;18411297;18587630;19710929;1971514;19786558;21829689;23186163;25114211;25218447;25418920;25505266;25755297;25772364;25892735;26154972;26992070;27600516;27846572;27862975;27920218;28228285;28446606;28797635;28832583;28834231;28904123;29242379;29331515;29493099;29508533;29557506;29769354;29786170;2991279;30012868;30315122;30429286;30524438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33298915;33392160;33592498;33717175;33912179;33968037;34561969;34932366;35051231;35318648;35580925;36010968;36284347;38052232;38301894;38448474;38657117;38671456;7981125;8618898;9240428", "class_list": "", "function": "BHLHE40/41 regulate microglia and peripheral macrophage responses associated with Alzheimer's disease and other disorders of lipid-rich tissues. Publication Status: Online-Only, [RefSeq, PubMed]; DEC1 is involved in circadian rhythm disruption-exacerbated pulmonary fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA H19 Influences Cellular Activities via the miR-454-3p/BHLHE40 Axis in Anaplastic Thyroid Carcinoma., [RefSeq, PubMed]; Single-Cell and Spatial Transcriptome Profiling Identifies the Transcription Factor BHLHE40 as a Driver of EMT in Metastatic Colorectal Cancer., [RefSeq, PubMed]; The BHLHE40-PPM1F-AMPK pathway regulates energy metabolism and is associated with the aggressiveness of endometrial cancer., [RefSeq, PubMed]; This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014]., [RefSeq]; Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes (PubMed:12397359, PubMed:18411297). Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop) (PubMed:14672706). Both these loops are interlocked as it represses the expression of PER1/2 and in turn is repressed by PER1/2 and CRY1/2 (PubMed:15193144). Represses the activity of the circadian transcriptional activator: CLOCK-BMAL1|BMAL2 heterodimer by competing for the binding to E-box elements (5'-CACGTG-3') found within the promoters of its target genes (PubMed:15560782). Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2 (PubMed:14672706). Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA and NR1H3/LXRA transactivation activity (PubMed:19786558). May be involved in the regulation of chondrocyte differentiation via the cAMP pathway (PubMed:19786558). Represses the transcription of NR0B2 and attenuates the transactivation of NR0B2 by the CLOCK-BMAL1 complex (PubMed:28797635). Drives the circadian rhythm of blood pressure through transcriptional repression of ATP1B1 in the cardiovascular system (PubMed:30012868)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 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": 7, "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": "Q96TD3", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0019904 protein domain specific binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:0000785 chromatin", "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;GO:0045892 negative regulation of DNA-templated transcription;GO:0007623 circadian rhythm", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "O14503-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06187-1", "uniprot_id": [ { "id": "BTK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06187", "type": "external" } ], "mass": 76281.0, "length": 659, "protein_name": "Tyrosine-protein kinase BTK", "gene_name": "BTK", "organism": "Human", "refseq_name": "tyrosine-protein kinase BTK isoform 1", "refseq_ac": [ { "id": "NP_000052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000052", "type": "external" } ], "gene_names_uniprotkb": "BTK; AGMX1; ATK; BPK", "gene_names_refseq": "AGMX1; ATK; AT; BPK; BTK; IGHD3; IMD1; PSCTK1; XLA", "protein_names_uniprotkb": "Tyrosine-protein kinase BTK; 2.7.10.2; ATK; Agammaglobulinemia tyrosine kinase; B-cell progenitor kinase; BPK; Bruton tyrosine kinase", "protein_names_refseq": "B-cell progenitor kinase; Bruton agammaglobulinemia tyrosine kinase; Bruton's tyrosine kinase; agammaglobulinaemia tyrosine kinase; dominant-negative kinase-deficient Brutons tyrosine kinase; tyrosine-protein kinase BTK isoform 1", "tax_id": 9606, "disease": "mantle cell lymphoma (Disease Ontology:DOID:0050746); isolated growth hormone deficiency type III (Disease Ontology:DOID:0060875); COVID-19 (Disease Ontology:DOID:0080600); X-linked agammaglobulinemia (Disease Ontology:DOID:14179); arthus reaction (Disease Ontology:DOID:1556); agammaglobulinemia (Disease Ontology:DOID:2583); central nervous system lymphoma (Disease Ontology:DOID:3234); lung adenocarcinoma (Disease Ontology:DOID:3910); primary immunodeficiency disease (Disease Ontology:DOID:612); B-cell lymphoma (Disease Ontology:DOID:707); Burkitt lymphoma (Disease Ontology:DOID:8584); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:695); (R-HSA-1236974); (R-HSA-166058); (R-HSA-2029482); (R-HSA-2424491); (R-HSA-2871809); (R-HSA-416476); (R-HSA-416482); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5663213); (R-HSA-8964315); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-983695)", "pathway_count": 15, "publication_count": 471, "publication_id_list": "10021361;10026222;10051622;10072481;10087012;10191087;10196129;10196179;10219243;10220140;10224278;10339589;10432293;10465784;10496324;10498607;10556826;10559936;10567430;10602036;10612838;10648173;10678660;10706702;10724160;10727532;10744696;10770799;10781580;1081164;10811803;10826882;10860980;10861009;10878810;10880360;10983984;10995437;11015615;11015619;11016936;11030334;11042164;11048639;11071869;11094073;11157975;11226282;11231582;11237011;11276226;11278486;11283606;11294240;11313914;11329366;11340081;11368773;11390650;11395409;11449366;11472359;11527964;11544529;11553796;11577348;11598012;11606584;11698416;11742120;11747816;11751885;11753430;11804587;11829459;11854399;11901194;11907067;11909947;11960013;12055636;12101119;12105426;12120503;12123608;12138165;12140561;12181444;12189515;12204007;12213210;12235133;12297423;12433842;12445832;12447441;12447442;12453414;12456653;12471105;12515866;12573241;12637671;12660731;12724322;12743368;12768435;12911816;12975316;1314888;1372019;1374290;1375264;1376928;14625308;14656219;14676198;15007095;15024743;15040784;15161916;15184383;15187135;15365099;15375214;15452139;1550550;15509800;15536084;15585605;15657136;15661032;15699075;15749160;15939795;15944945;15951850;1599430;16024789;16115318;16182515;16212495;16262445;16268778;16339447;16415872;16439361;16497976;16517732;16522641;16546099;16564096;16641196;16644721;16702231;16738337;16751103;16754659;16849466;16880808;16906149;16923326;16938345;16969585;1702903;1705565;17141195;17188549;17202194;17224452;17264076;17308335;17344846;17452328;17485511;17486119;17502104;17662961;17726518;17878161;17878374;17890055;17893200;17932028;18006696;18025150;18052078;18070880;18070890;18070982;18187424;18241230;18296442;18326500;18374420;18391171;18420269;18434541;18438411;18515384;18577758;18596693;18669862;18691974;18692471;18818202;18829464;18843204;18936096;18995841;1905813;19206206;19212140;19217269;19224918;19249086;19290921;19369195;19372136;19498957;19506249;19509286;19592493;19592497;19592646;19741094;19807924;19955216;20052711;2011584;20192804;20223979;20484116;20485341;20966070;21037092;21280133;21408196;21419341;21469132;21606490;21659545;21752263;21822214;21850230;21872626;22153078;22180443;22210847;22401777;22454496;22552008;22661716;22814904;2303036;2304550;23186163;23613522;23641311;23675550;2374928;23913792;24272870;24316379;24556163;24584101;24607955;24714562;2474607;24840642;24869597;24869598;25077631;25082755;25083866;25189416;25414122;25418920;25699547;25704810;25801024;25880248;25892735;25944695;26002965;26154972;26624983;26717038;26811146;26992070;27072905;27199251;27282255;27602755;27756747;27846572;27920218;28063628;28088788;28315597;28352114;2841328;28424405;28425720;28628824;28832583;28904123;29242379;29340061;29393594;29437277;29557506;29632046;29769354;29851337;29945920;30007591;30026342;30108960;30115681;30201761;30315122;30341350;30379171;30410026;30416684;30619340;30758770;3086311;31048504;31154438;31457731;31530632;31616406;31844290;31848261;31862959;31949019;32157095;32350084;32357974;32385234;32387766;32388230;32402933;32488085;32502341;32503877;32608058;32790160;32897882;32983136;33054082;33123756;33141586;33392160;33633747;33717175;33912179;33936100;33981831;34171305;34357683;34509645;34554188;34561969;34932366;3500860;35051231;35251023;35580925;35639855;36581221;38333922;38968154;39048721;39216117;39259208;4589993;6335036;7518558;7524079;7528218;7538118;7565679;7567982;7592958;7626884;7627183;7633420;7633429;7687428;7687539;7688784;7691807;7711734;7809124;7848918;7849006;7849697;7849721;7880320;7897635;7927516;7927535;7937899;8013627;803528;8070576;8090769;8162018;8162056;8163536;8306975;8380905;8425221;8594569;8617235;8629002;8630736;8631904;8634718;8663278;8664309;8695804;8702662;8723128;8799126;8809042;8816443;8834236;8837778;8938104;8947047;8986718;9008162;9012831;9016530;9052864;9188445;9192269;9218782;9235916;9260159;9280283;9305846;9308960;9326643;9341187;9382888;9391111;9396765;9430229;9445504;9485443;9490415;9545398;9571151;9600938;9690470;9697839;9705280;9705962;9751072;9770463;9796816;9799231;9830044;9843499;9883880;9885284", "class_list": "", "function": "Bruton Tyrosine Kinase Inhibition Decreases Inflammation and Differentially Impacts Phagocytosis and Cellular Metabolism in Mouse- and Human-derived Myeloid Cells., [RefSeq, PubMed]; Bruton's tyrosine kinase: A promising target for treating systemic lupus erythematosus. Review article, [RefSeq, PubMed]; GNA15 facilitates the malignant development of thyroid carcinoma cells via the BTK-mediated MAPK signaling pathway., [RefSeq, PubMed]; Mutation in Bruton Tyrosine Kinase (BTK) A428D confers resistance To BTK-degrader therapy in chronic lymphocytic leukemia., [RefSeq, PubMed]; Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling (PubMed:19290921). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (PubMed:19290921). After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members (PubMed:11606584). PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell linker protein BLNK (PubMed:11606584). BTK acts as a platform to bring together a diverse array of signaling proteins and is implicated in cytokine receptor signaling pathways (PubMed:16517732, PubMed:17932028). Plays an important role in the function of immune cells of innate as well as adaptive immunity, as a component of the Toll-like receptors (TLR) pathway (PubMed:16517732). The TLR pathway acts as a primary surveillance system for the detection of pathogens and are crucial to the activation of host defense (PubMed:16517732). Especially, is a critical molecule in regulating TLR9 activation in splenic B-cells (PubMed:16517732, PubMed:17932028). Within the TLR pathway, induces tyrosine phosphorylation of TIRAP which leads to TIRAP degradation (PubMed:16415872). BTK also plays a critical role in transcription regulation (PubMed:19290921). Induces the activity of NF-kappa-B, which is involved in regulating the expression of hundreds of genes (PubMed:19290921). BTK is involved on the signaling pathway linking TLR8 and TLR9 to NF-kappa-B (PubMed:19290921). Acts as an activator of NLRP3 inflammasome assembly by mediating phosphorylation of NLRP3 (PubMed:34554188). Transiently phosphorylates transcription factor GTF2I on tyrosine residues in response to BCR (PubMed:9012831). GTF2I then translocates to the nucleus to bind regulatory enhancer elements to modulate gene expression (PubMed:9012831). ARID3A and NFAT are other transcriptional target of BTK (PubMed:16738337). BTK is required for the formation of functional ARID3A DNA-binding complexes (PubMed:16738337). There is however no evidence that BTK itself binds directly to DNA (PubMed:16738337). BTK has a dual role in the regulation of apoptosis (PubMed:9751072). Plays a role in STING1-mediated induction of type I interferon (IFN) response by phosphorylating DDX41 (PubMed:25704810)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]., [RefSeq]; Transcriptomic and proteomic differences in BTK-WT and BTK-mutated CLL and their changes during therapy with pirtobrutinib., [RefSeq, 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, "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": 24, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RAW1;Q32ML5", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.10", "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": "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": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "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:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0032693 negative regulation of interleukin-10 production;GO:0006351 DNA-templated transcription;GO:0018108 peptidyl-tyrosine phosphorylation;GO:0019722 calcium-mediated signaling;GO:0032496 response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 47.4, "record_id": "Q06187-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHD9-1", "uniprot_id": [ { "id": "UBQL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHD9", "type": "external" } ], "mass": 65696.0, "length": 624, "protein_name": "Ubiquilin-2", "gene_name": "UBQLN2", "organism": "Human", "refseq_name": "ubiquilin-2", "refseq_ac": [ { "id": "NP_038472", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038472", "type": "external" } ], "gene_names_uniprotkb": "UBQLN2; HRIHFB2157; N4BP4; PLIC2", "gene_names_refseq": "ALS15; CHAP1; DSK2; HRIHFB2157; N4BP4; PLIC2; UBQLN2", "protein_names_uniprotkb": "Ubiquilin-2; Chap1; DSK2 homolog; PLIC-2; Protein linking IAP with cytoskeleton 2; Ubiquitin-like product Chap1/Dsk2; hPLIC-2", "protein_names_refseq": "Nedd4 binding protein 4; protein linking IAP with cytoskeleton 2; ubiquilin-2; ubiquitin-like product Chap1/Dsk2", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 15 (Disease Ontology:DOID:0060206); neurodegenerative disease (Disease Ontology:DOID:1289); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); frontotemporal dementia (Disease Ontology:DOID:9255)", "pathway": " (hsa:29978); (R-HSA-8856825)", "pathway_count": 2, "publication_count": 204, "publication_id_list": "10097102;10436022;10567358;10613896;10675567;10769163;10983987;11071885;11076969;11247302;11454741;11588219;11827521;11919637;11927540;11988742;12086608;12221107;12234931;12429842;12451172;12464600;12717448;12944396;12958364;1317852;14662753;14726597;15134832;1535555;15473838;15671180;15728179;16159959;16459302;16460808;16516836;16723738;16813565;16903783;17098253;17267500;17360967;17456551;17522231;17713526;18032517;18166656;18199683;18307982;18775314;18819912;18991276;19140243;19148225;1968060;19696798;19732400;19853559;20112406;20231386;20351096;20529957;20729634;21102408;21857683;21995445;22118466;22357968;22484487;22560112;2257624;22628307;22717235;22892309;22942912;23301498;23459205;23481700;23541532;24186068;24215460;24384571;24549040;24589709;24674348;24680432;24715725;24746795;25502872;25576301;25616961;26154972;26403691;26811146;26829388;26992070;27600516;27726376;27846572;28063628;28228285;28514659;28832583;28834231;28904123;2890644;29237092;29242379;29351928;29393594;29485866;29493099;29557506;29632046;29632711;29786170;30059200;30315122;30379171;30429286;30524438;30573663;30626607;30779550;30833945;31154438;31217245;31222486;31373491;31492838;31530632;31611695;31637018;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33968037;33981976;34019948;34105348;3417785;34357683;34509645;34561969;34725712;34846842;34932366;35051231;35132862;35138101;35154160;35251023;35254053;35289036;35513511;35580925;35705054;36010968;36240223;36241641;36284347;36951542;37257946;37541260;38115557;38665916;38703371;38838015;39302247;39531497;39534244;40307207;41350704;41518202;7569928;7822302;8553074;8837779;9169477;9303539;9723620;9812899;9853615", "class_list": "", "function": "Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia., [RefSeq, PubMed]; Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia., [RefSeq, PubMed]; Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:10983987). Plays a role in the ERAD pathway via its interaction with ER-localized proteins FAF2/UBXD8 and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:18307982, PubMed:24215460). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957). Negatively regulates the endocytosis of GPCR receptors: AVPR2 and ADRB2, by specifically reducing the rate at which receptor-arrestin complexes concentrate in clathrin-coated pits (CCPs) (PubMed:18199683)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. [provided by RefSeq, Oct 2009]., [RefSeq]; UBQLN2 restrains the domesticated retrotransposon PEG10 to maintain neuronal health in ALS. Publication Status: Online-Only, [RefSeq, PubMed]; Wild-type and pathogenic forms of ubiquilin 2 differentially modulate components of the autophagy-lysosome pathways., [RefSeq, 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": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 23, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 23, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 23, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 25, "binding_glycan_count": 0, "secondary_ac_list": "O94798;Q5D027;Q9H3W6;Q9HAZ4", "ec_number_list": [], "go_molecular_function": "GO:0031593 polyubiquitin modification-dependent protein binding;GO:0042802 identical protein binding;GO:0140693 molecular condensate scaffold activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0016241 regulation of macroautophagy;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0036503 ERAD pathway;GO:1904294 positive regulation of ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 23.0, "record_id": "Q9UHD9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O96006-1", "uniprot_id": [ { "id": "ZBED1_HUMAN", "url": "https://www.uniprot.org/uniprot/O96006", "type": "external" } ], "mass": 78156.0, "length": 694, "protein_name": "E3 SUMO-protein ligase ZBED1", "gene_name": "ZBED1", "organism": "Human", "refseq_name": "E3 SUMO-protein ligase ZBED1", "refseq_ac": [ { "id": "NP_001164606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164606", "type": "external" } ], "gene_names_uniprotkb": "ZBED1; ALTE; DREF; KIAA0785; TRAMP; hDREF", "gene_names_refseq": "ALTE; DREF; TRAMP; ZBED1; hDREF", "protein_names_uniprotkb": "E3 SUMO-protein ligase ZBED1; 2.3.2.-; DNA replication-related element-binding factor; Putative Ac-like transposable element; Zinc finger BED domain-containing protein 1; dREF homolog", "protein_names_refseq": "Ac-like transposable element; BED-type zinc finger domain-containing protein 1; DNA replication-related element binding factor; E3 SUMO-protein ligase ZBED1; dREF homolog; zinc finger BED domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9189); (R-HSA-4551638)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "11237011;11960997;12032081;12663651;14578449;14701874;15199155;15592428;17018294;17209048;17220279;18408014;18628979;18691969;19664994;20098713;20351170;20417598;22402492;22424782;22493095;22544926;23481700;23750026;24068740;24369422;24714562;24715725;24782567;25210186;25391492;25505266;25576301;25645385;25704882;25880248;26154972;26728094;26992070;27068747;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29786170;30304065;30315122;30429286;30484775;30524438;31154438;31217245;31530632;31844290;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34509645;34932366;35051231;35052473;35154160;35561310;36010968;36215666;36284347;37938771;9887332", "class_list": "", "function": "(Microbial infection) Binds to human adenovirus gene promoters and contributes to transcriptional repression and virus growth inhibition during early stages of infection., [UniProtKB, PubMed]; Expression of hDREF/KIAA0785 may have a role in regulation of human genes related to cell proliferation, [RefSeq, PubMed]; Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase which sumoylates CHD3/Mi2-alpha, causing its release from DNA (PubMed:27068747). This results in suppression of CHD3/Mi2-alpha transcription repression, increased recruitment of RNA polymerase II to gene promoters and positive regulation of transcription including H1-5 and ribosomal proteins such as: RPS6, RPL10A, and RPL12 (PubMed:12663651, PubMed:17209048, PubMed:17220279, PubMed:27068747). The resulting increased transcriptional activity drives cell proliferation (PubMed:12663651, PubMed:17220279). Binds to 5'-TGTCG[CT]GA[CT]A-3' consensus sequences in gene promoters of ribosomal proteins (PubMed:12663651, PubMed:17209048, PubMed:17220279, PubMed:27068747)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; HDREF is an important transcription factor for cell proliferation which plays roles in cell cycle-dependent regulation of a number of ribosomal protein genes, [RefSeq, PubMed]; Self-association of hDREF via the hATC domain is necessary for its nuclear accumulation and DNA binding., [RefSeq, PubMed]; This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It was earlier identified as a gene with similarity to Ac transposable elements, however, was found not to have transposase activity. Later studies show that this gene product is localized in the nucleus and functions as a transcription factor. It binds to DNA elements found in the promoter regions of several genes related to cell proliferation, such as histone H1, hence may have a role in regulating genes related to cell proliferation. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene. [provided by RefSeq, Jan 2010]., [RefSeq]; ZBED1 Regulates Genes Important for Multiple Biological Processes of the Placenta. Publication Status: Online-Only, [RefSeq, PubMed]; ZBED1 is not a cell proliferation-associated factor such as Drosophila DREF, and our study adds to the cumulative understanding of the functions of ZBED1 in human cells and tissues. 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, "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": 14, "reported_glycation": 0, "reported_snv": 9, "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": "Q96BY4", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" } ], "go_molecular_function": "GO:0061665 SUMO ligase activity;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0046983 protein dimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031965 nuclear membrane;GO:0016605 PML body;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0016925 protein sumoylation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "O96006-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92918-1", "uniprot_id": [ { "id": "M4K1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92918", "type": "external" } ], "mass": 91296.0, "length": 833, "protein_name": "Mitogen-activated protein kinase kinase kinase kinase 1", "gene_name": "MAP4K1", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase kinase 1 isoform 1", "refseq_ac": [ { "id": "NP_001036065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036065", "type": "external" } ], "gene_names_uniprotkb": "MAP4K1; HPK1", "gene_names_refseq": "HPK1; MAP4K1", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase kinase 1; 2.7.11.1; Hematopoietic progenitor kinase; MAPK/ERK kinase kinase kinase 1; MEK kinase kinase 1; MEKKK 1", "protein_names_refseq": "MAPK/ERK kinase kinase kinase 1; MEK kinase kinase 1; MEKKK 1; hematopoietic progenitor kinase 1; mitogen-activated protein kinase kinase kinase kinase 1 isoform 1", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); alcohol use disorder (Disease Ontology:DOID:1574); transient cerebral ischemia (Disease Ontology:DOID:224)", "pathway": " (hsa:11184)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "11237011;11278340;11514608;15302935;15743830;17192257;17344846;17353368;19369195;19690332;22105350;22424782;22544926;23481700;23646949;24362026;24714562;24715725;25576301;26154972;26375851;26437443;26992070;27846572;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30524438;31217245;31530632;31844290;31937595;31998317;32157095;32350084;32357974;32387766;32502341;32897882;32983136;33141586;33298915;33691108;33717175;33912179;33936100;34357683;34509645;34561969;34932366;35051231;35099066;35154160;35561310;35580925;36241641;36284347;37734869;38828677;39531497;8824585", "class_list": "", "function": "Decoding the signaling profile of hematopoietic progenitor kinase 1 (HPK1) in innate immunity: A proteomic approach., [RefSeq, PubMed]; Glioblastoma cellular MAP4K1 facilitates tumor growth and disrupts T effector cell infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; HPK1 Dysregulation-Associated NK Cell Dysfunction and Defective Expansion Promotes Metastatic Melanoma Progression., [RefSeq, PubMed]; Serine/threonine kinase that plays a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway., [UniProtKB, UniProtKB]; Serine/threonine-protein kinase, which plays a role in the response to environmental stress (PubMed:24362026). Appears to act upstream of the JUN N-terminal pathway (PubMed:8824585). Activator of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. MAP4Ks act in parallel to and are partially redundant with STK3/MST2 and STK4/MST2 in the phosphorylation and activation of LATS1/2, and establish MAP4Ks as components of the expanded Hippo pathway (PubMed:26437443). May play a role in hematopoietic lineage decisions and growth regulation (PubMed:24362026, PubMed:8824585). Together with CLNK, it enhances CD3-triggered activation of T-cells and subsequent IL2 production (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, 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": 26, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "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:0005524 ATP binding;GO:0008349 MAP kinase kinase kinase kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0008283 cell population proliferation;GO:0035556 intracellular signal transduction;GO:0043410 positive regulation of MAPK cascade;GO:0007254 JNK cascade", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q92918-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06748-1", "uniprot_id": [ { "id": "NPM_HUMAN", "url": "https://www.uniprot.org/uniprot/P06748", "type": "external" } ], "mass": 32575.0, "length": 294, "protein_name": "Nucleophosmin", "gene_name": "NPM1", "organism": "Human", "refseq_name": "nucleophosmin isoform 3", "refseq_ac": [ { "id": "NP_001032827", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032827", "type": "external" } ], "gene_names_uniprotkb": "NPM1; NPM", "gene_names_refseq": "B23; NPM1; NPM", "protein_names_uniprotkb": "Nucleophosmin; NPM; Nucleolar phosphoprotein B23; Nucleolar protein NO38; Numatrin", "protein_names_refseq": "nucleolar protein NO38; nucleophosmin (nucleolar phosphoprotein B23, numatrin); nucleophosmin isoform 3; nucleophosmin/nucleoplasmin family, member 1; testicular tissue protein Li 128", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:4869); (R-HSA-180746); (R-HSA-3899300); (R-HSA-606279); (R-HSA-6804115); (R-HSA-8869496); (R-HSA-9692914); (R-HSA-9700645); (R-HSA-9725370); (R-HSA-9725371); (R-HSA-9833482)", "pathway_count": 11, "publication_count": 547, "publication_id_list": 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"class_list": "", "function": "Comprehensive Molecular Profiling of NPM1-Mutated Acute Myeloid Leukemia Using RNAseq Approach. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in diverse cellular processes such as ribosome biogenesis, centrosome duplication, protein chaperoning, histone assembly, cell proliferation, and regulation of tumor suppressors p53/TP53 and ARF. Binds ribosome presumably to drive ribosome nuclear export. Associated with nucleolar ribonucleoprotein structures and bind single-stranded nucleic acids. Acts as a chaperonin for the core histones H3, H2B and H4. Stimulates APEX1 endonuclease activity on apurinic/apyrimidinic (AP) double-stranded DNA but inhibits APEX1 endonuclease activity on AP single-stranded RNA. May exert a control of APEX1 endonuclease activity within nucleoli devoted to repair AP on rDNA and the removal of oxidized rRNA molecules. In concert with BRCA2, regulates centrosome duplication. Regulates centriole duplication: phosphorylation by PLK2 is able to trigger centriole replication. Negatively regulates the activation of EIF2AK2/PKR and suppresses apoptosis through inhibition of EIF2AK2/PKR autophosphorylation. Antagonizes the inhibitory effect of ATF5 on cell proliferation and relieves ATF5-induced G2/M blockade (PubMed:22528486). In complex with MYC enhances the transcription of MYC target genes (PubMed:25956029). May act as chaperonin or cotransporter in the nucleolar localization of transcription termination factor TTF1 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Monocytic Differentiation of Human Acute Myeloid Leukemia Cells: A Proteomic and Phosphoproteomic Comparison of FAB-M4/M5 Patients with and without Nucleophosmin 1 Mutations. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylation Code of Human Nucleophosmin Includes Four Cryptic Sites for Hierarchical Binding of 14-3-3 Proteins., [RefSeq, PubMed]; Targeting NPM1 Epigenetically Promotes Postinfarction Cardiac Repair by Reprogramming Reparative Macrophage Metabolism. Erratum:[Circulation. 2025 Apr 8;151(14):e920. doi: 10.1161/CIR.0000000000001332. PMID: 40193539], [RefSeq, PubMed]; The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 48, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K3N7;B5BU00;D3DQL6;P08693;Q12826;Q13440;Q13441;Q14115;Q5EU94;Q5EU95;Q5EU96;Q5EU97;Q5EU98;Q5EU99;Q6V962;Q8WTW5;Q96AT6;Q96DC4;Q96EA5;Q9BYG9;Q9UDJ7", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:0000055 ribosomal large subunit export from nucleus;GO:2000767 positive regulation of cytoplasmic translation;GO:0006281 DNA repair;GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 55.7, "record_id": "P06748-1", "record_type": "protein", "filter_code": "1000000.1100111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14315-1", "uniprot_id": [ { "id": "FLNC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14315", "type": "external" } ], "mass": 291022.0, "length": 2725, "protein_name": "Filamin-C", "gene_name": "FLNC", "organism": "Human", "refseq_name": "filamin-C isoform b", "refseq_ac": [ { "id": "NP_001120959", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120959", "type": "external" } ], "gene_names_uniprotkb": "FLNC; ABPL; FLN2", "gene_names_refseq": "ABP-280; ABP280A; ABPA; ABPL; ARVC15; CMD1PP; CMH26; FLN2; FLNC; MFM5; MPD4; RCM5", "protein_names_uniprotkb": "Filamin-C; ABP-280-like protein; ABP-L; Actin-binding-like protein; FLN-C; FLNc; Filamin-2; Gamma-filamin", "protein_names_refseq": "ABP-280-like protein; ABP-L, gamma filamin; actin binding protein 280; filamin C, gamma; filamin-2; filamin-C isoform b", "tax_id": 9606, "disease": "myofibrillar myopathy 5 (Disease Ontology:DOID:0080096); hypertrophic cardiomyopathy 26 (Disease Ontology:DOID:0110327); distal myopathy 4 (Disease Ontology:DOID:0111190); dilated cardiomyopathy (Disease Ontology:DOID:12930); myopathy (Disease Ontology:DOID:423); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:2318); (R-HSA-446353)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "10629222;10658210;10984498;11038172;11102480;11153914;11171996;11237011;11252955;11739414;11842093;12438262;12525170;12679033;15461588;15642266;15929027;16076904;16408927;16501887;16531412;16631741;17379241;18083107;18088087;18212344;18578522;18691976;18707149;19050726;19074766;19369195;19651622;19664994;19664995;20058876;20068231;20554076;21223964;21406692;21620354;22194892;22972877;23186163;23301498;23783831;24275569;25208129;25351925;25576301;25666618;26375851;26666891;26992070;27452731;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29351928;29393594;29508533;29557506;29632711;29786170;29789417;30315122;30379171;30429286;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32444788;32488085;32502341;32897882;32938616;32983136;33123756;33214551;33592498;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34229054;34357683;34405687;34725712;34932366;35051231;35251023;35318648;35580925;36010968;36241641;36284347;37673657;37938771;38016530;38253038;38334670;38665916;38761081;39418514;39990658;40596516;7689010;9791010", "class_list": "", "function": "Characteristic Imaging Phenotype of Arrhythmogenic Cardiomyopathy With Filamin C Gene Variant., [RefSeq, PubMed]; Filamin C Deficiency Impairs Sarcomere Stability and Activates Focal Adhesion Kinase through PDGFRA Signaling in Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction of the C-terminal immunoglobulin-like domains (Ig 22-24) of filamin C with human small heat shock proteins., [RefSeq, PubMed]; Muscle-specific filamin, which plays a central role in sarcomere assembly and organization (PubMed:34405687). Critical for normal myogenesis, it probably functions as a large actin-cross-linking protein with structural functions at the Z lines in muscle cells. May be involved in reorganizing the actin cytoskeleton in response to signaling events (By similarity)., [UniProtKB, UniProtKB, PubMed]; Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias., [RefSeq, PubMed]; Role of Filamin C in Muscle Cells. Review article, [RefSeq, PubMed]; This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Mutations in this gene are a cause of cardiopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2022]., [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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 122, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2ZZ88;O95303;Q07985;Q9NS12;Q9NYE5;Q9UMR8;Q9Y503", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0051015 actin filament binding;GO:0008092 cytoskeletal protein binding;GO:0030506 ankyrin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005925 focal adhesion;GO:0042383 sarcolemma", "go_biological_process": "GO:0045214 sarcomere organization;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q14315-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C0S8-1", "uniprot_id": [ { "id": "H2A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C0S8", "type": "external" } ], "mass": 14091.0, "length": 130, "protein_name": "Histone H2A type 1", "gene_name": "H2AC11; H2AC13; H2AC15; H2AC16; H2AC17", "organism": "Human", "refseq_name": "histone H2A type 1", "refseq_ac": [ { "id": "NP_003500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003500", "type": "external" } ], "gene_names_uniprotkb": "H2AC11; H2AC13; H2AC15; H2AC16; H2AC17; H2AFC; H2AFD; H2AFI; H2AFN; H2AFP; HIST1H2AG; HIST1H2AI; HIST1H2AK; HIST1H2AL; HIST1H2AM", "gene_names_refseq": "H2A/c; H2AC13; H2AFC; HIST1H2AI", "protein_names_uniprotkb": "Histone H2A type 1; H2A.1; Histone H2A/ptl", "protein_names_refseq": "H2A histone family, member C; H2A.1; histone 1, H2ai; histone H2A type 1; histone H2A/ptl; histone cluster 1 H2A family member i; histone cluster 1, H2ai", "tax_id": 9606, "disease": "", "pathway": " (hsa:8329); (hsa:8330); (hsa:8332); (hsa:8336); (hsa:8969); (R-HSA-3214815); (R-HSA-3214847); (R-HSA-3214858); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-5689901); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9918481)", "pathway_count": 14, "publication_count": 202, "publication_id_list": "10064132;10190906;10383417;10444327;10444591;10449787;10748112;10786633;10821277;10904264;10922406;10926844;10982817;11341840;11448779;11509652;11566882;11709551;11739383;11742974;11747608;11747826;11751582;11756452;11756469;11909966;11923872;12032298;12353037;12408966;12724404;12857923;12917689;12917691;14519844;14661020;14667408;14762106;15010469;15053880;15078818;15084397;15313887;15386022;15485929;15823041;15916963;16140760;16214042;16359901;16387653;16457589;16702407;16901786;16906146;16964248;17139257;17211407;17215844;17290220;17443180;1768865;17707232;17873522;17898714;17980597;17981138;18001824;18001825;18079182;18172164;18203656;18381289;18404153;18467330;18497827;18535146;18623064;18632802;18636086;18758443;19015242;19135894;19187765;19188362;19188440;19202061;19203578;19203579;19234465;19363159;19398555;19424180;19640981;19682613;19815555;19838211;19874889;19910467;19965387;20018852;20096447;20228808;20368735;20436459;20501646;20805357;20951943;21239494;21316606;21362556;21571647;21587264;21596315;21659512;21690215;21774791;21849505;21896475;21911577;21925322;21962518;22029577;22085928;22128162;22174689;22216260;22231400;22389435;22713238;22980979;23159851;23246432;23301498;23395819;23486064;23719902;23824326;23825189;24056413;24140421;24260525;24352239;24493797;24681537;24896179;25197364;25305019;2530630;25469497;25470042;25578727;25810538;26092250;26101246;26572645;27083998;27105115;27108190;27501258;27846572;28415052;29557506;29902443;30154464;30360396;30444036;30599162;30761409;31542297;31611695;31844290;32350084;32357974;32387766;32488085;32502341;32911481;32913000;33141586;33177556;34078123;34545082;34961760;35215846;35390161;7410338;7513682;7578059;7584149;8179821;8805247;9150135;9427644;9439656;9528852;9558366;9642256;9651585;9790534;9790970;9880483", "class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]., [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": 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": 9, "reported_glycation": 0, "reported_snv": 34, "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": "P02261;Q2M1R2;Q76PA6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0019899 enzyme binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0000786 nucleosome", "go_biological_process": "GO:0006325 chromatin organization;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 20.5, "record_id": "P0C0S8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TA78-1", "uniprot_id": [ { "id": "LCE4A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TA78", "type": "external" } ], "mass": 9980.0, "length": 99, "protein_name": "Late cornified envelope protein 4A", "gene_name": "LCE4A", "organism": "Human", "refseq_name": "late cornified envelope protein 4A", "refseq_ac": [ { "id": "NP_848133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848133", "type": "external" } ], "gene_names_uniprotkb": "LCE4A; LEP8; SPRL4A", "gene_names_refseq": "LCE4A; LEP8; SPRL4A", "protein_names_uniprotkb": "Late cornified envelope protein 4A; Late envelope protein 8; Small proline-rich-like epidermal differentiation complex protein 4A", "protein_names_refseq": "late cornified envelope protein 4A; late envelope protein 8; small proline rich-like (epidermal differentiation complex) 4A; small proline-rich-like epidermal differentiation complex protein 4A", "tax_id": 9606, "disease": "", "pathway": " (hsa:199834); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;15854049;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25197941;25926655;26390218;36804407;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Paper describing nomenclature changes and expression in range of tissues and in response to UV, [RefSeq, PubMed]; Precursors of the cornified envelope of the stratum corneum., [UniProtKB]; SNPs in LCE4A are associated with increased risk of candidemia. 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, "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": 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": "Q14D97", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q5TA78-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00555-8", "uniprot_id": [ { "id": "CAC1A_HUMAN", "url": "https://www.uniprot.org/uniprot/O00555", "type": "external" } ], "mass": 282564.0, "length": 2506, "protein_name": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A", "gene_name": "CACNA1A", "organism": "Human", "refseq_name": "voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1", "refseq_ac": [ { "id": "NP_000059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000059", "type": "external" } ], "gene_names_uniprotkb": "CACNA1A; CACH4; CACN3; CACNL1A4", "gene_names_refseq": "APCA; BI; CACNA1A; CACNL1A4; CAV2.1; DEE42; EA2; EIEE42; FHM; HPCA; MHP1; MHP; SCA6", "protein_names_uniprotkb": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A; BI; Brain calcium channel I; Calcium channel, L type, alpha-1 polypeptide isoform 4; Voltage-gated calcium channel subunit alpha Cav2.1", "protein_names_refseq": "brain calcium channel 1; brain calcium channel I; calcium channel, L type, alpha-1 polypeptide; calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit; voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1; voltage-dependent P/Q-type calcium channel subunit alpha-1A; voltage-gated calcium channel subunit alpha Cav2.1", "tax_id": 9606, "disease": "Lambert-Eaton myasthenic syndrome (Disease Ontology:DOID:0050214); childhood electroclinical syndrome (Disease Ontology:DOID:0050704); cerebellar ataxia (Disease Ontology:DOID:0050753); generalized dystonia (Disease Ontology:DOID:0050835); hereditary ataxia (Disease Ontology:DOID:0050951); spinocerebellar ataxia 6 (Disease Ontology:DOID:0050956); episodic ataxia type 2 (Disease Ontology:DOID:0050990); familial hemiplegic migraine (Disease Ontology:DOID:0060178); absence epilepsy (Disease Ontology:DOID:0070309); developmental and epileptic encephalopathy 42 (Disease Ontology:DOID:0080454); familial hemiplegic migraine 1 (Disease Ontology:DOID:0111181); migraine with aura (Disease Ontology:DOID:10024); childhood absence epilepsy (Disease Ontology:DOID:1825); epilepsy (Disease Ontology:DOID:1826); generalized epilepsy (Disease Ontology:DOID:1827); temporal lobe epilepsy (Disease Ontology:DOID:3328); migraine (Disease Ontology:DOID:6364)", "pathway": " (hsa:773); (R-HSA-112308); (R-HSA-422356)", "pathway_count": 3, "publication_count": 144, "publication_id_list": "10049321;10194514;10206966;10342826;10408532;10408533;10424882;10526167;10753886;10773014;10866047;10868950;10987655;11078440;11078469;11176968;11264248;11409427;11439943;11577798;11716850;11723274;11780755;11815450;11815460;11815462;11815463;11865310;11873862;12020970;12196472;12403834;12420090;12475777;12684222;12764427;12887316;1309948;1335101;13459201;14514350;14718690;15000528;15032980;15173248;15293273;15305887;15504896;15572341;15585596;15678092;16325861;16332676;16443778;16513675;16556766;16714477;16866717;16868246;17021801;17259518;17380317;17660294;17900700;17919183;18162464;18346985;18400034;18400181;18596924;18602318;19232643;19429006;19587354;20086079;20129625;20682717;21696515;23481700;23992284;24836863;25892735;26517901;26716990;27250579;27476654;27920218;28742085;28832583;28900389;29053796;29108130;29242379;29470411;29557506;29632711;30315122;31067468;31092671;31530632;31844290;32157095;32938616;33298915;33798445;33936100;33968037;33981976;34509645;34561969;35051231;3517644;35494241;36215666;37342032;38174495;38221525;39110218;3923453;39531497;6019353;6424440;6435940;7589840;7593639;7641683;7823133;7929812;8027028;8457197;8525433;8675920;8825650;8898206;8987985;8988170;8997178;9302278;9345107;9350615;9726229;9739505;9751501;9914469", "class_list": "", "function": "Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene., [RefSeq, PubMed]; High-Throughput Sequencing Data Reveal an Antiangiogenic Role of HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic Retinopathy., [RefSeq, PubMed]; Natural history of non-polyglutamine CACNA1A disease in Austria., [RefSeq, PubMed]; Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]., [RefSeq]; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA (AC P54282) (By similarity). They are however insensitive to dihydropyridines (DHP)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 91, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 17, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "J3KP41;P78510;P78511;Q16290;Q92690;Q99790;Q99791;Q99792;Q99793;Q9NS88;Q9UDC4", "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:0046872 metal ion binding;GO:0001540 amyloid-beta binding;GO:0019905 syntaxin binding;GO:0005245 voltage-gated calcium channel activity;GO:0008331 high voltage-gated calcium channel activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:1904646 cellular response to amyloid-beta;GO:0007268 chemical synaptic transmission;GO:1904645 response to amyloid-beta;GO:0050804 modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "O00555-8", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100100001001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52735-1", "uniprot_id": [ { "id": "VAV2_HUMAN", "url": "https://www.uniprot.org/uniprot/P52735", "type": "external" } ], "mass": 101289.0, "length": 878, "protein_name": "Guanine nucleotide exchange factor VAV2", "gene_name": "VAV2", "organism": "Human", "refseq_name": "guanine nucleotide exchange factor VAV2 isoform 1", "refseq_ac": [ { "id": "NP_001127870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127870", "type": "external" } ], "gene_names_uniprotkb": "VAV2", "gene_names_refseq": "VAV-2; VAV2", "protein_names_uniprotkb": "Guanine nucleotide exchange factor VAV2; VAV-2", "protein_names_refseq": "guanine nucleotide exchange factor VAV2 isoform 1; guanine nucleotide exchange factor VAV2; vav 2 oncogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:7410); (R-HSA-114604); (R-HSA-193648); (R-HSA-2029482); (R-HSA-2424491); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-3928665); (R-HSA-416482); (R-HSA-4420097); (R-HSA-445144); (R-HSA-5218920); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013408); (R-HSA-9013423); (R-HSA-9664422); (R-HSA-9748787); (R-HSA-9958810)", "pathway_count": 23, "publication_count": 677, "publication_id_list": 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"class_list": "", "function": "AFAP1L1 promotes gastric cancer progression by interacting with VAV2 to facilitate CDC42-mediated activation of ITGA5 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Guanine nucleotide exchange factor for the Rho family of Ras-related GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity)., [UniProtKB]; Potentially functional genetic variants of VAV2 and PSMA4 in the immune-activation pathway and non-small cell lung cancer survival., [RefSeq, PubMed]; The tRNA-Cys-GCA Derived tsRNAs Suppress Tumor Progression of Gliomas via Regulating VAV2. Publication Status: Online-Only, [RefSeq, PubMed]; VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]., [RefSeq]; VAV2 orchestrates the interplay between regenerative proliferation and ribogenesis in both keratinocytes and oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Vav2 promotes ductus arteriosus anatomic closure via the remodeling of smooth muscle cells by Rac1 activation., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2RUM4;A8MQ12;B6ZDF5;Q5SYV3;Q5SYV4;Q5SYV5;Q6N012;Q6PIJ9;Q6Q317", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0005154 epidermal growth factor receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0007165 signal transduction;GO:0016477 cell migration;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 68.1, "record_id": "P52735-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0H5-1", "uniprot_id": [ { "id": "RGAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0H5", "type": "external" } ], "mass": 71027.0, "length": 632, "protein_name": "Rac GTPase-activating protein 1", "gene_name": "RACGAP1", "organism": "Human", "refseq_name": "rac GTPase-activating protein 1 isoform a", "refseq_ac": [ { "id": "NP_001119575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119575", "type": "external" } ], "gene_names_uniprotkb": "RACGAP1; KIAA1478; MGCRACGAP", "gene_names_refseq": "CDAN3B; CYK4; HsCYK-4; ID-GAP; MgcRacGAP; RACGAP1; RCGAP1", "protein_names_uniprotkb": "Rac GTPase-activating protein 1; CYK4; HsCYK-4; Male germ cell RacGap; MgcRacGAP; Protein CYK4 homolog", "protein_names_refseq": "male germ cell RacGap; protein CYK4 homolog; rac GTPase-activating protein 1 isoform a", "tax_id": 9606, "disease": "congenital dyserythropoietic anemia type IIIb (Disease Ontology:DOID:0051001)", "pathway": " (hsa:29127); (R-HSA-2132295); (R-HSA-6811434); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013423); (R-HSA-983189)", "pathway_count": 12, "publication_count": 657, "publication_id_list": 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"class_list": "", "function": "Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Required for proper attachment of the midbody to the cell membrane during cytokinesis. Sequentially binds to ECT2 and RAB11FIP3 which regulates cleavage furrow ingression and abscission during cytokinesis (PubMed:18511905). Plays key roles in controlling cell growth and differentiation of hematopoietic cells through mechanisms other than regulating Rac GTPase activity (PubMed:10979956). Has a critical role in erythropoiesis (PubMed:34818416). Also involved in the regulation of growth-related processes in adipocytes and myoblasts. May be involved in regulating spermatogenesis and in the RACGAP1 pathway in neuronal proliferation. Shows strong GAP (GTPase activation) activity towards CDC42 and RAC1 and less towards RHOA. Essential for the early stages of embryogenesis. May play a role in regulating cortical activity through RHOA during cytokinesis. May participate in the regulation of sulfate transport in male germ cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RACGAP1 is a pivotal gene in lung adenocarcinoma-associated membranous nephropathy: Based on comprehensive bioinformatics analysis and machine learning., [RefSeq, PubMed]; RACGAP1 promotes lung cancer cell proliferation through the PI3K/AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 54, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6PJ26;Q9NWN2;Q9P250;Q9P2W2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0008017 microtubule binding;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0007283 spermatogenesis;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030218 erythrocyte differentiation;GO:0007266 Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 66.1, "record_id": "Q9H0H5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43482-1", "uniprot_id": [ { "id": "MS18B_HUMAN", "url": "https://www.uniprot.org/uniprot/O43482", "type": "external" } ], "mass": 24691.0, "length": 229, "protein_name": "Protein Mis18-beta", "gene_name": "OIP5", "organism": "Human", "refseq_name": "protein Mis18-beta isoform 2", "refseq_ac": [ { "id": "NP_001304789", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304789", "type": "external" } ], "gene_names_uniprotkb": "OIP5; MIS18B; YPEL", "gene_names_refseq": "5730547N13Rik; CT86; LINT-25; MIS18B; MIS18beta; OIP5; hMIS18beta", "protein_names_uniprotkb": "Protein Mis18-beta; CT86; Cancer/testis antigen 86; OIP-5; Opa-interacting protein 5", "protein_names_refseq": "LAP2alpha interactor-25; MIS18 kinetochore protein homolog B; cancer/testis antigen 86; opa-interacting protein 5; protein Mis18-beta isoform 2; protein Mis18-beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:11339); (R-HSA-606279)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10671200;11237011;15369671;16622420;17199038;17339379;18669648;18691976;19398759;19410544;19410545;19651622;19664995;19690332;20068231;20080577;20510019;20566683;21406692;21768289;23186163;23481700;25576301;25645385;26921242;27600516;27846572;27920218;28228285;28904123;29242379;30315122;30524438;31530632;31844290;32357974;32387766;32938616;33298915;33912179;33968037;33981976;34087483;34509645;35051231;36010968;37074911;37660035;38790098;39135477;9466265", "class_list": "", "function": "Beta-TrCP-Mediated Proteolysis of Mis18beta Prevents Mislocalization of CENP-A and Chromosomal Instability., [RefSeq, PubMed]; Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene localizes to centromeres, where it is essential for recruitment of CENP-A through the mediator Holliday junction recognition protein. Expression of this gene is upregulated in several cancers, making it a putative therapeutic target. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; The role of OIP5 in the carcinogenesis and progression of ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; These results indicate that knockdown of OIP5 may induce apoptosis in cancer cells., [RefSeq, PubMed]; Three human proteins essential for centromere/kinetochore structure and function, hMis18alpha, hMis18beta, and M18BP1, the complex of which is accumulated specifically at the telophase-G1 centromere, are identified.[Mis18alpha, Mis18beta, M18BP1], [RefSeq, PubMed]; [H3K27 acetylation promotes lncRNA OIP5-AS1 transcription and induces apoptosis of nasal epithelial cells in allergic rhinitis through up-regulation of TLR4]., [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": 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": 0, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 9249, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96BX7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0000775 chromosome, centromeric region;GO:0000785 chromatin", "go_biological_process": "GO:0051301 cell division;GO:0007154 cell communication;GO:0034080 CENP-A containing chromatin assembly;GO:0140462 pericentric heterochromatin organization", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O43482-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31327-1", "uniprot_id": [ { "id": "CPSM_HUMAN", "url": "https://www.uniprot.org/uniprot/P31327", "type": "external" } ], "mass": 164939.0, "length": 1500, "protein_name": "Carbamoyl-phosphate synthase [ammonia], mitochondrial", "gene_name": "CPS1", "organism": "Human", "refseq_name": "carbamoyl-phosphate synthase [ammonia], mitochondrial isoform b precursor", "refseq_ac": [ { "id": "NP_001866", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001866", "type": "external" } ], "gene_names_uniprotkb": "CPS1", "gene_names_refseq": "CPS1D; CPS1; CPSASE1; GATD6; PHN", "protein_names_uniprotkb": "Carbamoyl-phosphate synthase [ammonia], mitochondrial; 6.3.4.16; CPSase I; Carbamoyl-phosphate synthetase I", "protein_names_refseq": "carbamoyl-phosphate synthase (ammonia); carbamoyl-phosphate synthase 1, mitochondrial; carbamoyl-phosphate synthase [ammonia], mitochondrial isoform b precursor; carbamoylphosphate synthetase I", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); primary cutaneous T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0060061); pre-malignant neoplasm (Disease Ontology:DOID:0060071); alcohol-associated liver disease (Disease Ontology:DOID:0070658); B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630); melanoma and neural system tumor syndrome (Disease Ontology:DOID:0111511); dysplastic nevus syndrome (Disease Ontology:DOID:10041); prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); leukemia (Disease Ontology:DOID:1240); persistent fetal circulation syndrome (Disease Ontology:DOID:13042); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); vascular disease (Disease Ontology:DOID:178); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); leiomyosarcoma (Disease Ontology:DOID:1967); nephroblastoma (Disease Ontology:DOID:2154); transitional cell carcinoma (Disease Ontology:DOID:2671); granulosa cell tumor (Disease Ontology:DOID:2999); invasive ductal carcinoma (Disease Ontology:DOID:3008); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); neurilemmoma (Disease Ontology:DOID:3192); rhabdomyosarcoma (Disease Ontology:DOID:3247); germinoma (Disease Ontology:DOID:3304); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); renal cell carcinoma (Disease Ontology:DOID:4450); sarcomatoid mesothelioma (Disease Ontology:DOID:4488); pancreatic carcinoma (Disease Ontology:DOID:4905); cholangiocarcinoma (Disease Ontology:DOID:4947); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603); uterine carcinosarcoma (Disease Ontology:DOID:6171); hepatocellular carcinoma (Disease Ontology:DOID:684); familial melanoma (Disease Ontology:DOID:6846); neuroblastoma (Disease Ontology:DOID:769); osteoarthritis (Disease Ontology:DOID:8398); chronic myeloid leukemia (Disease Ontology:DOID:8552); in situ carcinoma (Disease Ontology:DOID:8719); skin melanoma (Disease Ontology:DOID:8923); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); acute myeloid leukemia (Disease Ontology:DOID:9119); carbamoyl phosphate synthetase I deficiency disease (Disease Ontology:DOID:9280); steatotic liver disease (Disease Ontology:DOID:9452); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1373); (R-HSA-70635); (R-HSA-9955542)", "pathway_count": 3, "publication_count": 95, "publication_id_list": "10.1101/2023.09.13.557529;10369256;10813810;11237011;11237854;11388595;11407344;11474210;12459178;12655559;12807890;12853138;12859189;12948741;12955727;15050968;15164414;15617192;16141327;16408927;16737834;17310273;17407445;17496144;17900240;18263583;18323623;1840546;19006241;19748539;19754428;20058876;20068231;20520828;20578160;21120950;21767969;22002106;22076378;22173106;2263616;23186163;23649895;24237036;24275569;24703693;24813853;26374642;26440671;26592762;26853435;27535533;28063628;28411811;28832583;28904123;29393594;29557506;29632711;30379171;30484775;31844290;32157095;32350084;32938616;32983136;33392160;33465208;33912179;33968037;34019948;34171305;34932366;35051231;35083852;35285892;35580925;36064721;36215666;36241641;36284347;37054752;37074911;37427576;39174957;40596516;518841;6249820;6372096;7649538;8898077;9256435;9686347;9711878;9852088", "class_list": "", "function": "Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell., [UniProtKB]; The Role of Carbamoyl Phosphate Synthetase 1 as a Prognostic Biomarker in Patients With Acetaminophen-induced Acute Liver Failure., [RefSeq, PubMed]; The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]., [RefSeq]; Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency. Publication Status: Online-Only, [RefSeq, 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": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 26, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 50, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B7Z818;J3KQL0;O43774;Q53TL5;Q59HF8;Q7Z5I5", "ec_number_list": [ { "id": "6.3.4.16", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.16", "type": "external" }, { "id": "2.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.3.2", "type": "external" }, { "id": "3.5.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.3", "type": "external" }, { "id": "6.3.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.5.5", "type": "external" }, { "id": "3.5.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.2", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0004087 carbamoyl-phosphate synthase (ammonia) activity;GO:0004088 carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity;GO:0004175 endopeptidase activity;GO:0005524 ATP binding;GO:0005543 phospholipid binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0019240 citrulline biosynthetic process;GO:0046209 nitric oxide metabolic process;GO:0055081 monoatomic anion homeostasis;GO:0070409 carbamoyl phosphate biosynthetic process;GO:0071400 cellular response to oleic acid", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P31327-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4G176-1", "uniprot_id": [ { "id": "ACSF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4G176", "type": "external" } ], "mass": 64130.0, "length": 576, "protein_name": "Malonate--CoA ligase ACSF3, mitochondrial", "gene_name": "ACSF3", "organism": "Human", "refseq_name": "malonate--CoA ligase ACSF3, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_001120686", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120686", "type": "external" } ], "gene_names_uniprotkb": "ACSF3; PSEC0197", "gene_names_refseq": "ACSF3", "protein_names_uniprotkb": "Malonate--CoA ligase ACSF3, mitochondrial; 6.2.1.76; Acyl-CoA synthetase family member 3", "protein_names_refseq": "acyl-CoA synthetase family member 3, mitochondrial; malonate--CoA ligase ACSF3, mitochondrial isoform 1 precursor; malonate--CoA ligase ACSF3, mitochondrial; malonyl-CoA synthetase", "tax_id": 9606, "disease": "combined malonic and methylmalonic acidemia (Disease Ontology:DOID:0111263)", "pathway": " (hsa:197322); (R-HSA-75876)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10548543;10954726;11237011;11889465;12371743;12482854;12525535;12975357;15469937;16036915;16303743;16371355;17379924;17681178;17762044;18003621;18554506;18728184;19505953;19826053;20068231;20937905;21785126;21841779;21846720;21959040;22420028;23337955;23481700;25418920;26992070;27920218;28218747;28510447;28514659;28832583;28834231;28904123;29242379;29437277;29493099;30410026;31844290;32387766;33298915;33691108;33912179;34171305;34357683;35051231;35132862;35580925;40596516;40914422;8075637", "class_list": "", "function": "ACSF3 is a candidate gene for non-classical CMAMMA observed in our patients., [RefSeq, PubMed]; ACSF3 was significantly upregulated, and was involved in fatty acid and lipid metabolism and accelerated liver injury in alcoholic liver disease., [RefSeq, PubMed]; Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester (PubMed:21841779, PubMed:21846720). May have some preference toward very-long-chain substrates (PubMed:17762044)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Data indicate that the CBFA2T3/ACSF3 locus is a novel recurrent oncogenic target of immunoglobulin heavy chain translocations, which might contribute to the pathogenesis of pediatric GC-derived B-cell lymphoma., [RefSeq, PubMed]; Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis., [RefSeq, PubMed]; Mutations in ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase, were identified as a cause of combined malonic and methylmalonic aciduria. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 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": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K4J8;C9JQL6;Q6INA0;Q8N2F7", "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": "6.2.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.76", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0031957 very long-chain fatty acid-CoA ligase activity;GO:0016405 CoA-ligase activity;GO:0090409 malonyl-CoA synthetase activity;GO:0016874 ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005737 cytoplasm", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0006633 fatty acid biosynthetic process;GO:0035338 long-chain fatty-acyl-CoA biosynthetic process;GO:0090410 malonate catabolic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q4G176-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UQ4-1", "uniprot_id": [ { "id": "ABCAD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UQ4", "type": "external" } ], "mass": 576160.0, "length": 5058, "protein_name": "ATP-binding cassette sub-family A member 13", "gene_name": "ABCA13", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family A member 13", "refseq_ac": [ { "id": "NP_689914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689914", "type": "external" } ], "gene_names_uniprotkb": "ABCA13", "gene_names_refseq": "ABCA13", "protein_names_uniprotkb": "ATP-binding cassette sub-family A member 13; 7.6.2.-", "protein_names_refseq": "ATP binding cassette transporter A13; ATP-binding cassette sub-family A member 13; ATP-binding cassette, sub-family A (ABC1), member 13", "tax_id": 9606, "disease": "gastric adenocarcinoma (Disease Ontology:DOID:3717)", "pathway": " (hsa:154664); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12697998;19058789;19944402;23250005;23266639;23481700;23650620;25576301;25645385;25889687;25898927;26758079;26768311;27600516;27712136;28228285;28649982;29351928;29557506;29789417;31154438;31217245;31844290;31848261;32161166;32350084;32387766;32488085;32502341;33141586;33299069;33478937;33592498;34696226;36215666;36284347;37217939;8692836", "class_list": "", "function": "ABCA13 gene may contain overlapping common genetic risk factors for both major depressive disorder and schizophrenia in the Han Chinese population., [RefSeq, PubMed]; ABCA13 is a candidate gene in schizophrenia, bipolar disorder, and depression GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; ATP-binding cassette transporter 13 mRNA expression level in schizophrenia patients. Publication Status: Online-Only, [RefSeq, PubMed]; An alternative human ABCA13 transcript and protein., [RefSeq, PubMed]; CIAPIN1 and ABCA13 may be novel markers of poor outcome in pre-chemotherapy serous carcinoma effusions. Publication Status: Online-Only, [RefSeq, PubMed]; Description of a new gene that maps to chromosome 7., [RefSeq, PubMed]; In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]., [RefSeq]; May mediate the cholesterol and gangliosides transport from the plasma membrane to intracellular vesicles in an ATP hydrolysis dependent manner, thus playing a role in their internalization by endocytic retrograde transport and may also participate in the endocytosis of synaptic vesicle in cortical neurons., [UniProtKB, PubMed]; No copy number variation including ABCA13 was identified in schizophrenia, bipolar disorder, or major depressive disorder samples, nor in the controls., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Rare missense variants within a single gene, abca13, form yin yang haplotypes., [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": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 100, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MT16;K9LC76;K9LC79;K9LCX7;K9LDK8;K9LDY4;Q6ZTT7;Q86WI2;Q8N248", "ec_number_list": [ { "id": "3.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.25", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.4.24.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "3.4.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.2", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "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": "3.4.16.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.2", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "7.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.2", "type": "external" } ], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0016887 ATP hydrolysis activity;GO:0140359 ABC-type transporter activity", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0005886 plasma membrane;GO:0030667 secretory granule membrane;GO:0035577 azurophil granule membrane;GO:0016020 membrane", "go_biological_process": "GO:1900244 positive regulation of synaptic vesicle endocytosis;GO:0006869 lipid transport;GO:0035627 ceramide transport;GO:0032376 positive regulation of cholesterol transport", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q86UQ4-1", "record_type": "protein", "filter_code": "0000000.1000111.000100.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00537-1", "uniprot_id": [ { "id": "CDK17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00537", "type": "external" } ], "mass": 59582.0, "length": 523, "protein_name": "Cyclin-dependent kinase 17", "gene_name": "CDK17", "organism": "Human", "refseq_name": "cyclin-dependent kinase 17 isoform 2", "refseq_ac": [ { "id": "NP_001163935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001163935", "type": "external" } ], "gene_names_uniprotkb": "CDK17; PCTAIRE2; PCTK2", "gene_names_refseq": "CDK17; PCTAIRE2; PCTK2", "protein_names_uniprotkb": "Cyclin-dependent kinase 17; 2.7.11.22; Cell division protein kinase 17; PCTAIRE-motif protein kinase 2; Serine/threonine-protein kinase PCTAIRE-2", "protein_names_refseq": "PCTAIRE-motif protein kinase 2; cell division protein kinase 17; cyclin-dependent kinase 17 isoform 2; protein kinase cdc2-related PCTAIRE-2; serine/threonine-protein kinase PCTAIRE-2", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); lissencephaly 7 with cerebellar hypoplasia (Disease Ontology:DOID:0112231)", "pathway": " (hsa:5128)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11237011;1639063;17192257;18212344;18669648;18691976;19369195;19562805;19690332;20068231;21248752;21406692;22424782;23186163;23481700;24714562;24715725;25418920;25576301;26154972;26728094;26992070;27600516;27846572;27869121;27920218;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29786170;30315122;30484775;30524438;31217245;31844290;32157095;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34087483;34171305;34357683;34405274;34509645;34932366;35051231;35168653;35580925;36284347;37938771;37952105", "class_list": "", "function": "CircCDK17 knockdown inhibits tumor progression and cell glycolysis by downregulaing YWHAZ expression through sponging miR-1294 in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CircCDK17 promotes the proliferation and metastasis of ovarian cancer cells by sponging miR-22-3p to regulate CD147 expression., [RefSeq, PubMed]; May play a role in terminally differentiated neurons. Has a Ser/Thr-phosphorylating activity for histone H1 (By similarity)., [UniProtKB]; The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to a rat protein that is thought to play a role in terminally differentiated neurons. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jul 2010]., [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": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K1U6;B2RCQ2;Q8NEB8", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "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:0005524 ATP binding;GO:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000307 cyclin-dependent protein kinase holoenzyme complex", "go_biological_process": "GO:0006468 protein phosphorylation;GO:1901987 regulation of cell cycle phase transition", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q00537-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23396-1", "uniprot_id": [ { "id": "RS3_HUMAN", "url": "https://www.uniprot.org/uniprot/P23396", "type": "external" } ], "mass": 26688.0, "length": 243, "protein_name": "Small ribosomal subunit protein uS3", "gene_name": "RPS3", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS3 isoform 1", "refseq_ac": [ { "id": "NP_000996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000996", "type": "external" } ], "gene_names_uniprotkb": "RPS3; SW-cl.26", "gene_names_refseq": "RPS3; S3; uS3", "protein_names_uniprotkb": "Small ribosomal subunit protein uS3; 4.2.99.18; 40S ribosomal protein S3", "protein_names_refseq": "40S ribosomal protein S3; IMR-90 ribosomal protein S3; small ribosomal subunit protein uS3 isoform 1; small ribosomal subunit protein uS3", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036)", "pathway": " (hsa:6188); (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)", "pathway_count": 21, "publication_count": 389, "publication_id_list": "10358005;10364207;10380706;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14706345;14742663;14973490;14978097;14988002;15034551;15302935;15317934;15385533;15518571;15534230;15546618;15707971;15721257;15775988;15781252;15821744;15950189;16026328;16037817;16043514;16186820;16209946;16284618;16314389;16452507;16469117;16565220;16601204;16622410;16630668;16737853;16738141;16807684;16912115;16964243;16989641;17049931;17053788;17081983;1712897;17142313;17189298;17267404;17287340;17289661;17352659;17353269;17363904;17412707;17560175;17726049;17803942;17893241;17924679;18045535;18065403;18066079;18166647;18212344;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18452278;18455985;18491316;18524595;18539146;1856230;18578522;18610840;1861871;18657639;18669648;18691976;18707149;18767875;18973764;18974281;18991276;19007248;19059439;19060897;19106111;19150429;19332556;19359157;19413330;19415658;19417104;19460357;19478851;19503078;19541769;19556969;19564402;19608861;19608919;19651622;19656744;19664994;19664995;19690332;19691289;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20041225;20056613;20058876;2006156;20068231;20112406;20217897;20230923;20361218;20444697;20479275;20531386;20605787;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;2129557;21399639;21406692;21419344;21871177;21968017;22028470;22072790;22121020;22174690;22190735;22195017;22510408;22645359;22855488;22869377;22916032;23035226;23085078;23131551;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23746841;2388630;23911537;24029068;24275569;24423872;24424021;24457201;24524803;24550520;24714562;24715725;25114211;25132172;25242263;25418920;25432065;25502872;25525153;25576301;25645385;25810538;25880248;25892735;25969445;26154972;26237581;26375851;26728094;26758079;26811146;26929215;26992070;27384988;27397612;27452731;27526673;27600516;27846572;27862975;27920218;28065601;28132843;28218747;28228285;28467828;28489076;28521470;28649982;28685749;28757607;28832583;28834231;28904123;29242379;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30293783;30315122;30484775;30524438;30804176;31154438;31217245;31222486;31530632;31844290;31848261;31981475;32011234;32099016;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33141586;33188728;33214551;33268501;33298915;33392160;33479166;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34315815;34348161;34357683;34373319;34433824;34469731;34509645;34561969;34624207;34725712;34745438;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36581221;36610391;36724904;37070189;37217939;37938771;38665916;39302247;39395807;39425205;39609413;39947182;39947183;39990658;40914422;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7775413;7990965;8319909;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit (PubMed:23636399, PubMed:8706699). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:8706699). Has endonuclease activity and plays a role in repair of damaged DNA (PubMed:7775413). Cleaves phosphodiester bonds of DNAs containing altered bases with broad specificity and cleaves supercoiled DNA more efficiently than relaxed DNA (PubMed:15707971). Displays high binding affinity for 7,8-dihydro-8-oxoguanine (8-oxoG), a common DNA lesion caused by reactive oxygen species (ROS) (PubMed:14706345). Has also been shown to bind with similar affinity to intact and damaged DNA (PubMed:18610840). Stimulates the N-glycosylase activity of the base excision protein OGG1 (PubMed:15518571). Enhances the uracil excision activity of UNG1 (PubMed:18973764). Also stimulates the cleavage of the phosphodiester backbone by APEX1 (PubMed:18973764). When located in the mitochondrion, reduces cellular ROS levels and mitochondrial DNA damage (PubMed:23911537). Has also been shown to negatively regulate DNA repair in cells exposed to hydrogen peroxide (PubMed:17049931). Plays a role in regulating transcription as part of the NF-kappa-B p65-p50 complex where it binds to the RELA/p65 subunit, enhances binding of the complex to DNA and promotes transcription of target genes (PubMed:18045535). Represses its own translation by binding to its cognate mRNA (PubMed:20217897). Binds to and protects TP53/p53 from MDM2-mediated ubiquitination (PubMed:19656744). Involved in spindle formation and chromosome movement during mitosis by regulating microtubule polymerization (PubMed:23131551). Involved in induction of apoptosis through its role in activation of CASP8 (PubMed:14988002). Induces neuronal apoptosis by interacting with the E2F1 transcription factor and acting synergistically with it to up-regulate pro-apoptotic proteins BCL2L11/BIM and HRK/Dp5 (PubMed:20605787). Interacts with TRADD following exposure to UV radiation and induces apoptosis by caspase-dependent JNK activation (PubMed:22510408)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Phosphorylation of rpS3 by Lyn increases translation of Multi-Drug Resistance (MDR1) gene., [RefSeq, 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, where it forms part of the domain where translation is initiated. The protein belongs to the S3P family of ribosomal proteins. Studies of the mouse and rat proteins have demonstrated that the protein has an extraribosomal role as an endonuclease involved in the repair of UV-induced DNA damage. The protein appears to be located in both the cytoplasm and nucleus but not in the nucleolus. Higher levels of expression of this gene in colon adenocarcinomas and adenomatous polyps compared to adjacent normal colonic mucosa have been observed. This gene is co-transcribed with the small nucleolar RNA genes U15A and U15B, which are located in its first and fifth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]., [RefSeq]; SEC14L3 knockdown inhibited clear cell renal cell carcinoma proliferation, metastasis and sunitinib resistance through an SEC14L3/RPS3/NFkappaB positive feedback loop. Publication Status: Online-Only, [RefSeq, PubMed]; Selective translational control of cellular and viral mRNAs by RPS3 mRNA binding., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R7N5;J3KN86;Q498B5;Q8NI95", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "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": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.4.21.89", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.89", "type": "external" }, { "id": "1.14.11.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.51", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.33", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.33", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" } ], "go_molecular_function": "GO:0032357 oxidized purine DNA binding;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0002183 cytoplasmic translational initiation;GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0007059 chromosome segregation;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 39.3, "record_id": "P23396-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100100000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12814-1", "uniprot_id": [ { "id": "ACTN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P12814", "type": "external" } ], "mass": 103058.0, "length": 892, "protein_name": "Alpha-actinin-1", "gene_name": "ACTN1", "organism": "Human", "refseq_name": "alpha-actinin-1 isoform b", "refseq_ac": [ { "id": "NP_001093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093", "type": "external" } ], "gene_names_uniprotkb": "ACTN1", "gene_names_refseq": "ACTN1; BDPLT15", "protein_names_uniprotkb": "Alpha-actinin-1; Alpha-actinin cytoskeletal isoform; F-actin cross-linking protein; Non-muscle alpha-actinin-1", "protein_names_refseq": "F-actin cross-linking protein; actinin 1 smooth muscle; alpha-actinin-1 isoform b; epididymis secretory sperm binding protein; non-muscle alpha-actinin-1", "tax_id": 9606, "disease": "platelet-type bleeding disorder 15 (Disease Ontology:DOID:0111053); focal segmental glomerulosclerosis 1 (Disease Ontology:DOID:0111128)", "pathway": " (hsa:87); (R-HSA-114608); (R-HSA-3000170); (R-HSA-373753); (R-HSA-446388); (R-HSA-9013405); (R-HSA-9013418); (R-HSA-9035034)", "pathway_count": 8, "publication_count": 175, "publication_id_list": "10369880;10393930;10541305;10611248;11114196;11237011;11340081;11369769;11562357;11733557;11784792;12499396;12577064;12615977;12660326;12665801;12668668;12846735;12865409;12975610;1435334;14570703;14630798;14633607;14681059;14976204;15005707;15107402;15159419;15297306;15331416;15479743;15545998;15579503;15634346;15817463;15843475;15994232;16291744;16408927;16464232;16525419;16543952;16630808;16698282;16777452;16945929;17064668;17081983;17314405;17765681;17893108;17898132;17916560;17923684;18033240;18083107;18353764;18436335;18452278;18566446;18669648;18835386;19443634;19608861;19664994;19664995;20166139;20233749;20233848;21119010;21406692;2169343;22665057;22689882;22967762;23087206;23096567;23301498;23434115;23454549;23481700;2349951;23640497;24069336;24102721;24275569;24608665;25418920;25576301;25645385;25668492;25746724;26154972;26768311;26853435;26992070;27278019;27481945;27543614;27600516;2780298;27852748;27862975;27941885;28218747;28228285;28486133;28832583;28834231;28904123;28947137;29242379;29351928;29393594;29493099;29508533;29557506;2963012;29776664;29786170;29789417;31217245;31844290;31871319;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34380038;34433824;34509645;34546849;34642716;34725712;35008409;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38594875;38665916;39990658;40596516;6457647;7750553;8467233;8609172;8713105;8945468;9115237", "class_list": "", "function": "ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype., [RefSeq, PubMed]; Actinin BioID reveals sarcomere crosstalk with oxidative metabolism through interactions with IGF2BP2., [RefSeq, PubMed]; Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Alpha-Actinin1 promotes tumorigenesis and epithelial-mesenchymal transition of gastric cancer via the AKT/GSK3beta/beta-Catenin pathway., [RefSeq, PubMed]; Enhancement of cardiac contractility using gold-coated SU-8 cantilevers and their application to drug-induced cardiac toxicity tests. Publication Status: Online-Only, [RefSeq, PubMed]; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. Association with IGSF8 regulates the immune synapse formation and is required for efficient T-cell activation (PubMed:22689882)., [UniProtKB, 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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3V8S3;B4DHH3;B7TY16;Q1HE25;Q9BTN1", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0005178 integrin binding;GO:0042803 protein homodimerization activity;GO:0051015 actin filament binding;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007015 actin filament organization;GO:0030036 actin cytoskeleton organization;GO:0051017 actin filament bundle assembly;GO:0042981 regulation of apoptotic process;GO:0048041 focal adhesion assembly", "synthesized_glycan_count": 0, "hit_score": 18.0, "record_id": "P12814-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55055-1", "uniprot_id": [ { "id": "NR1H2_HUMAN", "url": "https://www.uniprot.org/uniprot/P55055", "type": "external" } ], "mass": 50974.0, "length": 460, "protein_name": "Oxysterols receptor LXR-beta", "gene_name": "NR1H2", "organism": "Human", "refseq_name": "oxysterols receptor LXR-beta isoform 2", "refseq_ac": [ { "id": "NP_001243576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243576", "type": "external" } ], "gene_names_uniprotkb": "NR1H2; LXRB; NER; UNR", "gene_names_refseq": "LXR-b; LXRB; NER-I; NER; NR1H2; RIP15; UNR", "protein_names_uniprotkb": "Oxysterols receptor LXR-beta; Liver X receptor beta; Nuclear receptor NER; Nuclear receptor subfamily 1 group H member 2; Ubiquitously-expressed nuclear receptor", "protein_names_refseq": "LX receptor beta; liver X nuclear receptor beta; nuclear orphan receptor LXR-beta; oxysterols receptor LXR-beta isoform 2; oxysterols receptor LXR-beta; steroid hormone-nuclear receptor NER; ubiquitously-expressed nuclear receptor", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7376); (R-HSA-1989781); (R-HSA-383280); (R-HSA-4090294); (R-HSA-8866427); (R-HSA-9029558); (R-HSA-9029569); (R-HSA-9031525); (R-HSA-9031528); (R-HSA-9623433)", "pathway_count": 10, "publication_count": 142, "publication_id_list": "10235266;10542397;10777541;10858438;11121022;11149950;11237011;11267664;11287605;11414710;11500512;11604492;11790787;11865025;11875109;12032151;12077349;12118000;12144530;12150943;12177000;12177166;12454263;12505311;12518032;12582161;12612088;12819202;14500761;14572640;14703507;14764426;15067378;15130092;15147902;15175151;15192080;15192092;15635043;15896744;15923626;15961505;16380219;16751179;16871576;16912044;16972786;17020914;17105732;17186944;17218271;17314004;17452316;17684114;17717077;18039658;18540824;18719978;18782758;18848529;19041634;19088433;19211567;19481530;19520913;19692572;19710929;19850744;19864602;19933273;19934321;19955185;20110263;20159957;20427281;20466882;20466885;20494359;20566875;20719936;20855588;21030586;21187453;21273557;21310851;21467194;21507939;21734303;22510808;22541735;22673513;22930759;22936343;23496987;23519696;23546875;23790976;23931754;24196956;24715725;25114211;25418920;25661920;26154972;26984517;26992070;27846572;27920218;28082258;28228285;28842423;28869506;29242379;29393594;29435130;29557506;29772548;30315122;30379171;30484775;31844290;32387766;32938616;33717175;33968037;34087483;34153683;35051231;35810773;36215666;36241641;36251137;36802434;36930354;7685352;7892212;7926814;8402897;8647822;9012850;9653119;9748239", "class_list": "", "function": "CYP27A1 inhibits proliferation and migration of clear cell renal cell carcinoma via activation of LXRs/ABCA1., [RefSeq, PubMed]; Inhibition of LXR controls the polarization of human inflammatory macrophages through upregulation of MAFB. Publication Status: Online-Only, [RefSeq, PubMed]; Insulin Downregulates the Expression of ATP-binding Cassette Transporter A-I in Human Hepatoma Cell Line HepG2 in a FOXO1 and LXR Dependent Manner. Erratum:[Cell Biochem Biophys. 2023 Mar;81(1):161. doi: 10.1007/s12013-022-01115-y. PMID: 36342646], [RefSeq, PubMed]; Liver X receptor controls follicular helper T cell differentiation via repression of TCF-1., [RefSeq, PubMed]; MIG12 is involved in the LXR activation-mediated induction of the polymerization of mammalian acetyl-CoA carboxylase., [RefSeq, PubMed]; Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920). Binds preferentially to double-stranded oligonucleotide direct repeats having the consensus half-site sequence 5'-AGGTCA-3' and 4-nt spacing (DR-4). Regulates cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8; DLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Induces LPCAT3-dependent phospholipid remodeling in endoplasmic reticulum (ER) membranes of hepatocytes, driving SREBF1 processing and lipogenesis (By similarity). Via LPCAT3, triggers the incorporation of arachidonate into phosphatidylcholines of ER membranes, increasing membrane dynamics and enabling triacylglycerols transfer to nascent very low-density lipoprotein (VLDL) particles (By similarity). Via LPCAT3 also counteracts lipid-induced ER stress response and inflammation, likely by modulating SRC kinase membrane compartmentalization and limiting the synthesis of lipid inflammatory mediators (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957)., [UniProtKB, UniProtKB, PubMed, PubMed]; The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]., [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": 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": 0, "reported_mutagensis": 2, "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": "A8K490;B4DNM6;E7EWA6;Q12970;Q5I0Y1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0034191 apolipoprotein A-I receptor binding;GO:0051117 ATPase 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:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0048550 negative regulation of pinocytosis;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0010875 positive regulation of cholesterol efflux", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "P55055-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92974-1", "uniprot_id": [ { "id": "ARHG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92974", "type": "external" } ], "mass": 111543.0, "length": 986, "protein_name": "Rho guanine nucleotide exchange factor 2", "gene_name": "ARHGEF2", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 2 isoform 1", "refseq_ac": [ { "id": "NP_001155855", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155855", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF2; KIAA0651; LFP40", "gene_names_refseq": "ARHGEF2; GEF-H1; GEFH1; GEF; LFP40; Lfc; NEDMHM; P40", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 2; GEF-H1; Guanine nucleotide exchange factor H1; Microtubule-regulated Rho-GEF; Proliferating cell nucleolar antigen p40", "protein_names_refseq": "Rho/Rac guanine nucleotide exchange factor (GEF) 2; guanine nucleotide exchange factor H1; microtubule-regulated Rho-GEF; proliferating cell nucleolar antigen p40; rho guanine nucleotide exchange factor 2 isoform 1; rho guanine nucleotide exchange factor 2", "tax_id": 9606, "disease": "neurodevelopmental disorder with midbrain and hindbrain malformations (Disease Ontology:DOID:0080312)", "pathway": " (hsa:9181); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013026)", "pathway_count": 5, "publication_count": 320, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11283606;11294240;11313914;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11742120;11756498;11804589;11804590;11884391;11912491;12071859;12093360;12097334;12101119;12123608;12195014;12221077;12221096;12433842;12473120;12515866;12531887;12650940;12857875;12877655;14512443;14673001;14970201;15023524;15064355;15107133;15302923;15302935;15342493;15470142;15485661;15592455;15601624;15611138;15699075;15749160;15827085;15850391;15866170;15944396;15951850;16112081;16116428;16184169;16212495;16217026;16467373;16519628;16565220;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;16964243;17077126;17081983;17198702;17488622;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18077418;18088087;18158243;18211802;18218625;18220336;18374420;18394899;18452278;18577758;18669648;18707149;18767875;18802007;18829452;19007248;19043560;19212140;19261619;19413330;19415658;19494238;19605563;19608861;19635168;19651622;19664994;19667072;19673492;19690332;19691289;19713215;20030946;20058876;20068230;20068231;20101212;20400958;20406887;20591975;20628200;20660154;21148482;21351730;21373644;21406692;21454492;21565175;21699497;21865595;21887730;21936715;22072711;22096251;22298643;22305756;22544926;22661716;22673745;22911862;22992742;23186163;23200924;23255595;23301498;23434736;23481700;23572525;23816534;23870313;24086303;24128008;24259668;24275569;24335996;24352656;2466560;24715725;24933155;25211221;25414122;25418920;25469497;25576301;25645385;25673874;25704760;25802875;26154972;26371245;26375851;26529257;26768311;26811146;26820534;26887924;26929215;26992070;27072905;27145964;27216196;27481945;27600516;27846572;27862975;27920218;27986909;28063628;28096473;28112683;28196833;28218747;28228285;28411811;28453519;28510447;28584191;28649982;28657654;28832583;28834231;28855257;28904123;29089450;29146911;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30007591;30315122;30379171;30410026;31105010;31154438;31217245;31530632;31844290;31848261;31871319;31998317;32157095;32161166;32203420;32357974;32387766;32488085;32502341;32692911;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33500736;33592498;33633747;33691108;33912179;33968037;33981976;34087483;34185709;34357683;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;36834937;38665916;39467635;40307207;40596516;7479768;7673236;7721814;7753201;7937899;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9308960;9418861;9490638;9497316;9520479;9535835;9548756;9659915;9670022;9792683;9796816;9822605;9829970;9857026", "class_list": "", "function": "Activates Rho-GTPases by promoting the exchange of GDP for GTP. May be involved in epithelial barrier permeability, cell motility and polarization, dendritic spine morphology, antigen presentation, leukemic cell differentiation, cell cycle regulation, innate immune response, and cancer. Binds Rac-GTPases, but does not seem to promote nucleotide exchange activity toward Rac-GTPases, which was uniquely reported in PubMed:9857026. May stimulate instead the cortical activity of Rac. Inactive toward CDC42, TC10, or Ras-GTPases. Forms an intracellular sensing system along with NOD1 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIP2 dependent NF-kappaB signaling pathways activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides through NOD1 that is independent of its GEF activity, but also in the activation of NF-kappaB by Shigella effector proteins (IpgB2 and OspB) which requires its GEF activity and the activation of RhoA. Involved in innate immune signaling transduction pathway promoting cytokine IL6/interleukin-6 and TNF secretion in macrophage upon stimulation by bacterial peptidoglycans; acts as a signaling intermediate between NOD2 receptor and RIPK2 kinase. Contributes to the tyrosine phosphorylation of RIPK2 through Src tyrosine kinase leading to NF-kappaB activation by NOD2. Overexpression activates Rho-, but not Rac-GTPases, and increases paracellular permeability (By similarity). Involved in neuronal progenitor cell division and differentiation (PubMed:28453519). Involved in the migration of precerebellar neurons (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Decoupling actin assembly from microtubule disassembly by TBC1D3C-mediated direct GEF-H1 activation. Publication Status: Online-Only, [RefSeq, PubMed]; GEF-H1 is regulated by an interaction with microtubules., [RefSeq, PubMed]; Reducing GEF-H1 Expression Inhibits Renal Cyst Formation, Inflammation, and Fibrosis via RhoA Signaling in Nephronophthisis. Publication Status: Online-Only, [RefSeq, PubMed]; Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 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, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 44, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DVA6;O75142;Q15079;Q5VY92;Q8TDA3;Q8WUG4;Q9H023", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005819 spindle;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007015 actin filament organization;GO:0042127 regulation of cell population proliferation;GO:0045087 innate immune response;GO:0045666 positive regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 32.4, "record_id": "Q92974-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23528-1", "uniprot_id": [ { "id": "COF1_HUMAN", "url": "https://www.uniprot.org/uniprot/P23528", "type": "external" } ], "mass": 18502.0, "length": 166, "protein_name": "Cofilin-1", "gene_name": "CFL1", "organism": "Human", "refseq_name": "cofilin-1", "refseq_ac": [ { "id": "NP_005498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005498", "type": "external" } ], "gene_names_uniprotkb": "CFL1; CFL", "gene_names_refseq": "CFL1; CFL; HEL-S-15; cofilin", "protein_names_uniprotkb": "Cofilin-1; 18 kDa phosphoprotein; Cofilin, non-muscle isoform; p18", "protein_names_refseq": "18 kDa phosphoprotein; cofilin 1 (non-muscle); cofilin-1; epididymis secretory protein Li 15; p18", "tax_id": 9606, "disease": "West syndrome (Disease Ontology:DOID:0050562); vitamin B12 deficiency (Disease Ontology:DOID:0050731); autism spectrum disorder (Disease Ontology:DOID:0060041); nemaline myopathy 7 (Disease Ontology:DOID:0110934); brain compression (Disease Ontology:DOID:11457); nephrotic syndrome (Disease Ontology:DOID:1184); alcohol use disorder (Disease Ontology:DOID:1574); status epilepticus (Disease Ontology:DOID:1824); impotence (Disease Ontology:DOID:1875); gallbladder carcinoma (Disease Ontology:DOID:4948); ureteral obstruction (Disease Ontology:DOID:5199); myocardial infarction (Disease Ontology:DOID:5844); muscular atrophy (Disease Ontology:DOID:767)", "pathway": " (hsa:1072); (R-HSA-114608); (R-HSA-2029482); (R-HSA-3928662); (R-HSA-399954); (R-HSA-5627117); (R-HSA-8950505)", "pathway_count": 7, "publication_count": 362, "publication_id_list": "10075701;10219243;10496324;10559936;10613909;10644754;10724160;10781580;10878810;10995436;10995437;11058585;11093160;11134074;11157975;11171090;11231582;11237011;11276226;11278486;11294912;11329366;11331307;11340065;11340081;11418599;11553796;11580899;11604131;11747816;11784854;11804587;11812157;11829459;11854399;11925442;11942626;12055636;12105426;12189515;12213210;12235133;12361576;12451591;12546821;12655149;12665801;12702722;12743368;12837278;1435334;14627701;14630798;14636893;14645219;14654843;14676198;14988728;15040784;15159416;15297306;15378065;15452139;15548136;15580268;15592455;15657136;15660133;15671020;15721239;15866889;15901596;15951569;16038020;16230460;16262445;16298995;16408927;16497976;16505165;16546099;16548883;16641196;16702231;16803871;16880808;16964243;17016520;17081983;17130184;17145369;17188549;17202194;17308335;17377532;17389395;17440041;17470633;17548511;17954607;18079118;18096821;18252715;18309290;18391171;18459146;18491316;18566446;18578522;18669648;18702456;18771940;18802091;18991276;19029335;19117535;19329994;19339277;19369195;19413330;19531498;19553453;19562668;19608861;19615748;19651622;19690332;19741094;19748539;19802004;19955216;20058876;20068231;20305658;20558337;20610540;20825680;20935470;21081667;21221513;21406692;21419341;21834987;2201922;22019611;22216116;22223895;22299025;22424782;22544926;22550395;22593798;2263493;22855535;22869619;22970259;23060131;23112838;23170111;23186163;23301498;23481700;23633677;23640497;23783831;23897816;23934191;23951242;24214978;24284899;24366607;24425731;24478456;24486488;24664099;24714562;24715725;24795566;24840177;25179631;25486435;25527205;25549357;25556234;25576301;25645385;25684665;25714964;25781955;25802875;25810538;25864508;26056138;26154972;26169356;26269174;26375851;26552660;26728094;26758079;26880202;26967395;26992070;27397612;27452731;27573465;27595610;27600516;27726376;27846572;27920218;28218747;28228285;28303963;28381571;28467828;28489960;28514659;28649982;28679472;28704726;28832583;28871256;28904123;28939776;29029503;29071730;29111771;29184140;29242379;29314611;29331515;29380537;29393594;29396473;29437277;29493099;29508533;29557506;29632711;29724193;29786170;29789417;29844397;29930882;30131725;30192525;30315122;30429286;30512203;30524438;30550596;30573663;30662943;30711747;30779550;30792702;30824802;30833945;31020640;31092671;31213900;31217245;31222486;31442208;31492838;31530632;31611695;31844290;31848261;31937595;31988091;31998317;32075676;32119511;32157095;32161166;32162841;32331276;32350084;32357974;32387766;32488085;32502341;32792588;32897882;32903827;32938616;32938750;32983136;32983407;33043033;33056987;33091337;33123756;33141586;33214551;33298915;33344441;33392160;33592498;33649781;33670794;33691108;33717175;33912179;33928084;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34433824;34509645;34725712;34932366;35051231;35083852;35132862;35138101;35154160;35251023;35254053;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37340703;37938771;38365893;38665916;38702365;38721960;38852754;38981022;40596516;40914422;6457647;7478585;7552146;7848918;8037689;8467233;8662509;8800436;8809042;8986718;9354661;9600938;9655398;9705280;9799231;9843499;9864364;9883880;9885284", "class_list": "", "function": "Binds to F-actin and exhibits pH-sensitive F-actin depolymerizing activity (PubMed:11812157, PubMed:33670794). In conjunction with the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions via regulation of actin dynamics (PubMed:15580268). Required for the centralization of the mitotic spindle and symmetric division of zygotes (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization in epithelial cells (PubMed:21834987). Required for the up-regulation of atypical chemokine receptor ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation (PubMed:23633677). Required for neural tube morphogenesis and neural crest cell migration (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CircCFL1 Promotes TNBC Stemness and Immunoescape via Deacetylation-Mediated c-Myc Deubiquitylation to Facilitate Mutant TP53 Transcription., [RefSeq, PubMed]; Distinct functional constraints driving conservation of the cofilin N-terminal regulatory tail. Publication Status: Online-Only, [RefSeq, PubMed]; FLNA regulates neuronal maturation by modulating RAC1-Cofilin activity in the developing cortex., [RefSeq, PubMed]; Impact of siRNA-Mediated Cofilin-1 Knockdown and Obesity Associated Microenvironment on the Motility of Natural Killer Cells., [RefSeq, PubMed]; The amoeboid migration of monocytes in confining channels requires the local remodeling of the cortical actin cytoskeleton by cofilin-1. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganization of the actin cytoskeleton. Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM, Apr 2004]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KUQ1;Q53Y87;Q9UCA2", "ec_number_list": [], "go_molecular_function": "GO:1902936 phosphatidylinositol bisphosphate binding;GO:0005102 signaling receptor binding;GO:0051015 actin filament binding;GO:0019903 protein phosphatase binding;GO:0003779 actin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0090732 cofilin-actin rod;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0098885 modification of postsynaptic actin cytoskeleton;GO:0030835 negative regulation of actin filament depolymerization;GO:0051293 establishment of spindle localization;GO:2000814 positive regulation of barbed-end actin filament capping;GO:0051511 negative regulation of unidimensional cell growth", "synthesized_glycan_count": 0, "hit_score": 36.8, "record_id": "P23528-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60760-1", "uniprot_id": [ { "id": "HPGDS_HUMAN", "url": "https://www.uniprot.org/uniprot/O60760", "type": "external" } ], "mass": 23344.0, "length": 199, "protein_name": "Hematopoietic prostaglandin D synthase", "gene_name": "HPGDS", "organism": "Human", "refseq_name": "hematopoietic prostaglandin D synthase", "refseq_ac": [ { "id": "NP_055300", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055300", "type": "external" } ], "gene_names_uniprotkb": "HPGDS; GSTS; PGDS; PTGDS2", "gene_names_refseq": "GSTS1-1; GSTS1; GSTS; HPGDS; PGD2; PGDS", "protein_names_uniprotkb": "Hematopoietic prostaglandin D synthase; 2.5.1.18; 5.3.99.2; GST class-sigma; Glutathione S-transferase; Glutathione-dependent PGD synthase; Glutathione-requiring prostaglandin D synthase; H-PGDS; Prostaglandin-H2 D-isomerase", "protein_names_refseq": "GST class-sigma; epididymis secretory sperm binding protein; glutathione S-transferase sigma; glutathione-dependent PGD synthase; glutathione-dependent PGD synthetase; glutathione-requiring prostaglandin D synthase; hematopoietic prostaglandin D synthase; hematopoietic prostaglandin D2 synthase; prostaglandin-H2 D-isomerase", "tax_id": 9606, "disease": "allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:27306); (R-HSA-156590); (R-HSA-2162123)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "10329152;10377455;10587441;10622721;10783391;10824118;10922363;10966456;11297515;11327815;11465543;11672424;11904223;12042665;12211029;12244105;12627223;12835322;1380156;14742434;14979715;15047184;15113825;15115769;16081649;16298388;16475787;16547010;16548513;16828555;17449869;17641676;18006499;18341273;18493841;18682561;19000823;19939518;20036328;20083122;20085333;20667974;20950588;21106529;21467029;21668448;21821144;22522127;23162467;27145233;27485270;29393594;29557506;30379171;30429286;32488085;3372534;35051231;35580925;36284347;3770744;37938771;38339125;3862115;3954355;4514999;4521806;4768551;4776443;5284360;7005231;7552725;7925341;7947975;8175750;8182750;8203914;8331657;8431482;8703034;8812420;8901870;9139685;9219313;9278457;9353279;9425264;9551553;9626023;9839448", "class_list": "", "function": "Bifunctional enzyme which catalyzes both the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation, and the conjugation of glutathione with a wide range of aryl halides and organic isothiocyanates. Also exhibits low glutathione-peroxidase activity towards cumene hydroperoxide., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Hematopoietic Prostaglandin D Synthase Is Increased in Mast Cells and Pericytes in Autopsy Myocardial Specimens from Patients with Duchenne Muscular Dystrophy. Publication Status: Online-Only, [RefSeq, PubMed]; Prostaglandin-D synthase is a sigma class glutathione-S-transferase family member. The enzyme catalyzes the conversion of PGH2 to PGD2 and plays a role in the production of prostanoids in the immune system and mast cells. The presence of this enzyme can be used to identify the differentiation stage of human megakaryocytes. [provided by RefSeq, Jul 2008]., [RefSeq]; The development of a competition binding assay amenable to high-throughput screening (HTS) in a scintillation proximity assay (SPA) format. This assay was used to screen an in-house compound library of approximately 280,000 compounds for novel H-PGDS inhibitors., [RefSeq, PubMed]; We have utilized a broad-scaled affinity proteomics approach to identify three proteins (CCL5, HPGDS, and NPSR1) with altered plasma levels in asthmatic children compared to healthy controls, representing the first evaluation of HPGDS and NPSR1 in plasma., [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": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "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": "Q6FHT9", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "5.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.2", "type": "external" }, { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "1.20.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.20.4.2", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" } ], "go_molecular_function": "GO:0004667 prostaglandin-D synthase activity;GO:0004364 glutathione transferase activity;GO:0000287 magnesium ion binding;GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0007626 locomotory behavior;GO:0006693 prostaglandin metabolic process;GO:0019371 cyclooxygenase pathway;GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "O60760-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NT76-1", "uniprot_id": [ { "id": "HMBX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NT76", "type": "external" } ], "mass": 47278.0, "length": 420, "protein_name": "Homeobox-containing protein 1", "gene_name": "HMBOX1", "organism": "Human", "refseq_name": "homeobox-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001129198", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129198", "type": "external" } ], "gene_names_uniprotkb": "HMBOX1; HOT1; TAH1", "gene_names_refseq": "HMBOX1; HNF1LA; HOT1; PBHNF; TAH1", "protein_names_uniprotkb": "Homeobox-containing protein 1; Homeobox telomere-binding protein 1; Telomere-associated homeobox-containing protein 1", "protein_names_refseq": "homeobox telomere-binding protein 1; homeobox-containing protein 1 isoform 1; homeobox-containing protein 1; homeobox-containing protein PBHNF; telomere-associated homeobox-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79618)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;16825764;18452278;18991276;19728927;19757162;20068231;23186163;23685356;23813958;25114211;25218447;25755297;25772364;26154972;26992070;27600516;27862975;28228285;28832583;28834231;29242379;29485866;29557506;30429286;31154438;31844290;31848261;32157095;32938616;33388421;33717175;35051231;38814216", "class_list": "", "function": "Binds directly to 5'-TTAGGG-3' repeats in telomeric DNA (PubMed:23685356, PubMed:23813958). Associates with the telomerase complex at sites of active telomere processing and positively regulates telomere elongation (PubMed:23685356). Important for TERT binding to chromatin, indicating a role in recruitment of the telomerase complex to telomeres (By similarity). Also plays a role in the alternative lengthening of telomeres (ALT) pathway in telomerase-negative cells where it promotes formation and/or maintenance of ALT-associated promyelocytic leukemia bodies (APBs) (PubMed:23813958). Enhances formation of telomere C-circles in ALT cells, suggesting a possible role in telomere recombination (PubMed:23813958). Might also be involved in the DNA damage response at telomeres (PubMed:23813958)., [UniProtKB, PubMed, UniProtKB, PubMed]; Binds directly to 5'-TTAGGG-3' repeats in telomeric DNA. Associates with the telomerase complex at sites of active telomere processing and positively regulates telomere elongation. Important for TERT binding to chromatin, indicating a role in recruitment of the telomerase complex to telomeres. Also plays a role in the alternative lengthening of telomeres (ALT) pathway in telomerase-negative cells where it promotes formation and/or maintenance of ALT-associated promyelocytic leukemia bodies (APBs). Enhances formation of telomere C-circles in ALT cells, suggesting a possible role in telomere recombination. Might also be involved in the DNA damage response at telomeres., [UniProtKB, UniProtKB, UniProtKB]; Cancer-secreted exosomal miR-1468-5p promotes tumor immune escape via the immunosuppressive reprogramming of lymphatic vessels. Erratum:[Mol Ther. 2022 Feb 2;30(2):976-977. doi: 10.1016/j.ymthe.2021.12.014. PMID: 34982969], [RefSeq, PubMed]; Decreased expression in hepatic carcinoma, [RefSeq, PubMed]; High expression of HMBOX1 promotes the progression of lung squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Hmbox1 is widely expressed in pancreas and the expression of this gene can also be detected in pallium, hippocampus and hypothalamus, [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": 3, "reported_mutagensis": 7, "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": "A4K385;A8K3R8;B4DHY5;D3DSU0;Q3Y6P1;Q96GS5;Q9H701", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042162 telomeric DNA binding;GO:0044877 protein-containing complex binding;GO:0003691 double-stranded telomeric DNA binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;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:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:1905324 telomere-telomerase complex assembly", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q6NT76-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13185-1", "uniprot_id": [ { "id": "CBX3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13185", "type": "external" } ], "mass": 20811.0, "length": 183, "protein_name": "Chromobox protein homolog 3", "gene_name": "CBX3", "organism": "Human", "refseq_name": "chromobox protein homolog 3 isoform a", "refseq_ac": [ { "id": "NP_009207", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009207", "type": "external" } ], "gene_names_uniprotkb": "CBX3", "gene_names_refseq": "CBX3; HECH; HP1-GAMMA; HP1Hs-gamma; HP1gamma", "protein_names_uniprotkb": "Chromobox protein homolog 3; HECH; HP1 gamma; Heterochromatin protein 1 homolog gamma; Modifier 2 protein", "protein_names_refseq": "chromobox homolog 3 (HP1 gamma homolog, Drosophila); chromobox protein homolog 3 isoform a; chromobox protein homolog 3; heterochromatin protein 1 homolog gamma; heterochromatin protein HP1 gamma; heterochromatin-like protein 1; modifier 2 protein", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:11335); (R-HSA-427389); (R-HSA-73772); (R-HSA-8953750); (R-HSA-9940465)", "pathway_count": 5, "publication_count": 120, "publication_id_list": "10330177;10460410;10664448;11171983;11237011;11242053;12004135;12419226;12646563;12909625;14969726;15014447;15502821;15536069;16083285;16127177;16186106;16531993;16964243;17001316;17081983;17287340;17600109;18077418;18212344;18318008;18452278;18562691;18656484;18669648;18691976;19608861;19651622;19664994;19664995;19880879;20068231;20166139;20562864;20850016;21346195;21406692;21596310;21740066;22684280;23186163;23251473;23301498;23542155;23954429;24275569;24531329;24627085;25040935;25218447;25576301;25755297;25772364;26100231;26154972;26992070;27862975;27920218;28167679;28218747;28228285;28510447;28832583;28834231;28977666;29242379;29393594;29437277;29508533;29557506;29632711;29786170;29795351;30315122;30379171;30410026;30444036;31154438;31217245;31844290;31848261;32051553;32119511;32157095;32265295;32870666;32938616;33214551;33298915;33592498;33968037;33981976;34019948;34171305;35008409;35051231;35083852;35132862;35526384;35561310;35580925;36400769;36620876;37217939;37436074;37674204;38665916;7623816;8663349;9169472;9501179;9636146;9689056;9704927;9864353", "class_list": "", "function": "At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene.[provided by RefSeq, Mar 2011]., [RefSeq]; CBX3 promotes breast cancer progression and high level of CBX3 predicts poor prognosis in patients., [RefSeq, PubMed]; CBX3 promotes clear cell renal carcinoma through PI3K/AKT activation and aberrant immunity. Publication Status: Online-Only, [RefSeq, PubMed]; Component of heterochromatin, which recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression (PubMed:11242053). Also recognizes and binds histone H1.4 methylated at 'Lys-26' (H1.4K26me) (PubMed:16127177). Excluded from chromatin when histone H1.4 is Simultaneously methylated at Lys-26 (H1.4K26me) and phosphorylated at Ser-27 (H1.4S27Ph) (PubMed:16127177). Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins (PubMed:15502821). Contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation, mediates the recruitment of the methyltransferases SUV39H1 and/or SUV39H2 by the PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1 (By similarity). Mediates the recruitment of NIPBL to sites of DNA damage at double-strand breaks (DSBs) (PubMed:28167679)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; PSMC4 promotes prostate carcinoma progression by regulating the CBX3-EGFR-PI3K-AKT-mTOR pathway., [RefSeq, PubMed]; The Heterochromatin protein 1 is a regulator in RNA splicing precision deficient in ulcerative colitis. 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, "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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "Q96CD7;Q99409;Q9BVS3;Q9P0Z6", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0019899 enzyme binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:1990226 histone methyltransferase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005819 spindle;GO:0016604 nuclear body", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0006974 DNA damage response;GO:0071549 cellular response to dexamethasone stimulus", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q13185-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUI4-1", "uniprot_id": [ { "id": "HDAC7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUI4", "type": "external" } ], "mass": 102927.0, "length": 952, "protein_name": "Histone deacetylase 7", "gene_name": "HDAC7", "organism": "Human", "refseq_name": "histone deacetylase 7 isoform d", "refseq_ac": [ { "id": "NP_001091886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091886", "type": "external" } ], "gene_names_uniprotkb": "HDAC7; HDAC7A", "gene_names_refseq": "HD7A; HD7; HDAC7A; HDAC7", "protein_names_uniprotkb": "Histone deacetylase 7; 3.5.1.-; 3.5.1.98; HD7a; HD7; Histone deacetylase 7A; Protein deacetylase HDAC7", "protein_names_refseq": "histone deacetylase 7 isoform d; histone deacetylase 7A; protein deacetylase HDAC7", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256); alopecia areata (Disease Ontology:DOID:986)", "pathway": " (hsa:51564); (R-HSA-2122947); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-3108214); (R-HSA-350054); (R-HSA-8943724); (R-HSA-9976102)", "pathway_count": 8, "publication_count": 224, "publication_id_list": "10206645;10574707;10640276;10713164;10879540;10882063;10964718;11006133;11044625;11112321;11237011;11262386;11378386;11461910;11466315;11545734;11557759;11585921;11740940;11781575;11792325;11889051;11929873;11959846;12050117;12209127;12239305;12354787;12374742;12391150;12530964;12551922;14980219;15107403;15175327;15355988;15546612;15574878;15608651;15623513;15738054;15760269;15823533;15824097;15829507;15829515;15940266;15959518;16030353;16093323;16256737;16418168;16478998;16530044;16530045;16608850;16626738;16676006;16688858;16702404;16738328;16751179;16810316;16959974;16980613;17003037;17114293;17157496;17360565;17373667;17401372;17646408;17646409;17693435;17873065;17962809;17974977;18043734;18077452;18094723;18172008;18285338;18296446;18374649;18391013;18487508;18509061;18617643;18625722;18669648;18691969;18708356;18824583;18824585;19151708;19287951;19440552;19524514;19531498;19596686;19622798;19690332;19706679;19726682;19779455;19884659;19956565;20016594;20016603;20068231;20188095;20190268;20233713;20516213;20705237;20972443;21098080;21147198;21284855;21289308;21406692;21550342;21892142;22128185;22155184;22508508;22635276;22661230;22751501;23186163;23287862;23750026;23871147;24027577;24275569;24366607;24718924;24782567;25114211;25218447;25418920;25576301;25645385;25728608;25880248;26910647;26929215;26992070;27846572;27862975;27920218;28167758;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29485866;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30524438;31154438;31222486;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37217939;37369679;37507770;37960766;39063083;39534244;40914422;7566092;7588063;8001118;8649374;8687460;9244301;9315665;9412458;9452416;9462510;9604939;9620803;9651681;9694793;9756909;9819428;9885291", "class_list": "", "function": "Characterization of the mouse HDAC7 ortholog., [RefSeq, PubMed]; Class II histone deacetylases are directly recruited by BCL6 transcriptional repressor, [RefSeq, PubMed]; Comprehensive analysis of HDAC7 expression and its prognostic value in diffuse large B cell lymphoma: A review. Review article, [RefSeq, PubMed]; Deacetylation of FOXP1 by HDAC7 potentiates self-renewal of mesenchymal stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The Epigenetic Modifiers HDAC2 and HDAC7 Inversely Associate with Cancer Stemness and Immunity in Solid Tumors. Publication Status: Online-Only, [RefSeq, 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, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 6, "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": "B3KY08;B4DWI0;B4E0Q5;Q6P1W9;Q6W9G7;Q7Z4K2;Q7Z5I1;Q96K01;Q9BR73;Q9H7L0;Q9NW41;Q9NWA9;Q9NYK9;Q9UFU7", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "1.14.99.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.66", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.5.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.48", "type": "external" }, { "id": "3.5.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.62", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0003714 transcription corepressor activity;GO:0005080 protein kinase C binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:0032703 negative regulation of interleukin-2 production;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0016925 protein sumoylation;GO:0090050 positive regulation of cell migration involved in sprouting angiogenesis", "synthesized_glycan_count": 0, "hit_score": 22.9, "record_id": "Q8WUI4-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUT2-1", "uniprot_id": [ { "id": "MITOS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUT2", "type": "external" } ], "mass": 79989.0, "length": 735, "protein_name": "Mitochondrial potassium channel ATP-binding subunit", "gene_name": "ABCB8", "organism": "Human", "refseq_name": "mitochondrial potassium channel ATP-binding subunit isoform a", "refseq_ac": [ { "id": "NP_001269220", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269220", "type": "external" } ], "gene_names_uniprotkb": "ABCB8; MABC1; MITOSUR", "gene_names_refseq": "ABCB8; EST328128; M-ABC1; MABC1; MITOSUR", "protein_names_uniprotkb": "Mitochondrial potassium channel ATP-binding subunit; ABCB8; ATP-binding cassette sub-family B member 8, mitochondrial; M-ABC1; MITOSUR; Mitochondrial ATP-binding cassette 1; Mitochondrial sulfonylurea-receptor", "protein_names_refseq": "ATP-binding cassette sub-family B member 8, mitochondrial; ATP-binding cassette, sub-family B (MDR/TAP), member 8; mitochondrial ABC protein; mitochondrial ATP-binding cassette 1; mitochondrial potassium channel ATP-binding subunit isoform a; mitochondrial potassium channel ATP-binding subunit; mitochondrial sulfonylurea-receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:11194); (R-HSA-1369007)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10196363;10837493;10922475;11237011;11829140;12892562;15215243;15225610;16259955;16959974;17006453;20112406;21046154;23481700;24366607;24715725;25063848;25418920;25645385;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28649982;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29786170;30315122;30379171;30524438;30623799;31092671;31217245;31435016;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33835027;33872987;33912179;33968037;33981976;34087483;34171305;34357683;34509645;34561969;35051231;35580925;36010968;36241641;36284347;37938771;39894887;9878413;9883897", "class_list": "", "function": "ATP-binding subunit of the mitochondrial ATP-gated potassium channel (mitoK(ATP)) (PubMed:31435016). Together with pore-forming subunit CCDC51/MITOK of the mitoK(ATP) channel, mediates ATP-dependent potassium currents across the mitochondrial inner membrane (PubMed:31435016). An increase in ATP intracellular levels closes the channel, inhibiting K(+) transport, whereas a decrease in ATP levels enhances K(+) uptake in the mitochondrial matrix (PubMed:31435016). Plays a role in mitochondrial iron transport (PubMed:30623799). Required for maintenance of normal cardiac function, possibly by influencing mitochondrial iron export and regulating the maturation of cytosolic iron sulfur cluster-containing enzymes (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8. Publication Status: Online-Only, [RefSeq, PubMed]; Cryo-EM structure of human ABCB8 transporter in nucleotide binding state. Erratum:[Biochem Biophys Res Commun. 2021 Aug 6;565:100. doi: 10.1016/j.bbrc.2021.04.110. PMID: 33985759], [RefSeq, PubMed]; This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [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, "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": 0, "reported_mutagensis": 2, "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": "A5D8W3;B2RBL8;B3KND2;B4DG02;G3XAP3;O95787;Q53GM0", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0016887 ATP hydrolysis activity;GO:0140359 ABC-type transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0031966 mitochondrial membrane;GO:0043190 ATP-binding cassette (ABC) transporter complex", "go_biological_process": "GO:0055085 transmembrane transport;GO:0006884 cell volume homeostasis;GO:0071805 potassium ion transmembrane transport;GO:0140141 mitochondrial potassium ion transmembrane transport;GO:0006813 potassium ion transport", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9NUT2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P83916-1", "uniprot_id": [ { "id": "CBX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P83916", "type": "external" } ], "mass": 21418.0, "length": 185, "protein_name": "Chromobox protein homolog 1", "gene_name": "CBX1", "organism": "Human", "refseq_name": "chromobox protein homolog 1", "refseq_ac": [ { "id": "NP_001120700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120700", "type": "external" } ], "gene_names_uniprotkb": "CBX1; CBX", "gene_names_refseq": "CBX1; CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; Hp1beta; M31; MOD1; p25beta", "protein_names_uniprotkb": "Chromobox protein homolog 1; HP1 beta; HP1Hsbeta; Heterochromatin protein 1 homolog beta; Heterochromatin protein p25; M31; Modifier 1 protein; p25beta", "protein_names_refseq": "chromobox homolog 1 (HP1 beta homolog Drosophila); chromobox protein homolog 1; heterochromatin protein 1 homolog beta; heterochromatin protein 1-beta; heterochromatin protein p25 beta; modifier 1 protein", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:10951); (R-HSA-9609690); (R-HSA-9940465)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10202156;10460410;11237011;11242053;12857923;14651845;15899859;15947784;16127177;16140760;16615912;17081983;18203656;18318008;18438399;18535146;19651622;19657222;19682613;19880879;20068231;20166139;20498703;20562864;20850016;21346195;21406692;21690215;22174689;23542155;24275569;24531329;24715725;25755297;26154972;26572645;26721387;26992070;27501258;27846572;28218747;28415052;28832583;28977666;29242379;29437277;29557506;29795351;30360396;30429286;30761409;30833945;31217245;31222486;31844290;31848261;32157095;32502341;32938616;33141586;33717175;33981976;34019948;34171305;35051231;36310139;39894887;41094145;9169582", "class_list": "", "function": "Component of heterochromatin, which recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression (PubMed:41094145). Also recognizes and binds histone H1.4 methylated at 'Lys-26' (H1.4K26me) (PubMed:16127177). Excluded from chromatin when histone H1.4 is Simultaneously methylated at Lys-26 (H1.4K26me) and phosphorylated at Ser-27 (H1.4S27Ph) (PubMed:16127177). Interaction with lamin B receptor (LBR) can contribute to the association of the heterochromatin with the inner nuclear membrane (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; HP1 binding as analyzed through the crystal structure of the HP1-EMSY complex, [RefSeq, PubMed]; N[6] -Methyladenosine-Modified CBX1 Regulates Nasopharyngeal Carcinoma Progression Through Heterochromatin Formation and STAT1 Activation., [RefSeq, PubMed]; This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [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, "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": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "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": "P23197", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:1990226 histone methyltransferase binding;GO:0062072 histone H3K9me2/3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005819 spindle;GO:0016604 nuclear body;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0006974 DNA damage response;GO:0031507 heterochromatin formation;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P83916-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27824-1", "uniprot_id": [ { "id": "CALX_HUMAN", "url": "https://www.uniprot.org/uniprot/P27824", "type": "external" } ], "mass": 67568.0, "length": 592, "protein_name": "Calnexin", "gene_name": "CANX", "organism": "Human", "refseq_name": "calnexin isoform d precursor", "refseq_ac": [ { "id": "NP_001019820", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019820", "type": "external" } ], "gene_names_uniprotkb": "CANX", "gene_names_refseq": "CANX; CNX; IP90; P90", "protein_names_uniprotkb": "Calnexin; IP90; Major histocompatibility complex class I antigen-binding protein p88; p90", "protein_names_refseq": "calnexin isoform d precursor; epididymis secretory sperm binding protein; major histocompatibility complex class I antigen-binding protein p88", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:821); (R-HSA-168316); (R-HSA-2132295); (R-HSA-8984722); (R-HSA-901042); (R-HSA-9020956); (R-HSA-9683686); (R-HSA-9694548); (R-HSA-9768727); (R-HSA-983170); (R-HSA-9918432)", "pathway_count": 11, "publication_count": 354, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10036229;10064069;10064083;10072072;10228156;10480952;10540230;10593899;10600378;10631941;10631952;10639150;10748235;10764645;10777614;10809954;10825291;10929008;10982397;11160214;11163199;11237011;11514579;11529500;11684289;11790530;11813165;11853874;12078484;12121660;12198549;12436109;12436110;12535523;12643545;12645939;12734330;12742663;12748383;12829785;1286667;1326756;14565860;14681859;14702039;14718384;14731593;14764690;15286279;15372022;15489334;15749704;15911768;15927284;16181339;16242130;16324152;16361248;16465444;16473882;16565220;16618111;16824007;16940051;17056546;17081065;17081983;17088086;17142755;17261850;17283181;17316621;17322306;17507649;17656363;17874423;17924679;17975675;18033300;18046453;18077418;18088087;18212344;18292509;18292512;18318008;18389480;18417615;18452278;18491227;18510355;18578522;18669648;18691976;18707149;18767875;18991276;19007248;19119025;19193869;19261456;19342655;19361863;19369195;19413330;19415658;19426129;1956401;19564404;19575639;19608861;19651622;19664995;19690332;19691289;19851281;19933857;20058876;20068231;20129637;20166139;2038058;20519510;20605430;20801878;21050182;21116285;21136679;21205830;2121367;21269460;21406692;21441454;21631431;21654843;2190094;22299025;22306691;22314232;22375065;22487722;22661428;22814351;22915798;23186163;23301498;23481700;23555621;23584533;23719902;23826168;2391366;24058793;24196833;24275569;2450918;24572363;24681004;24743305;24771852;24966173;25128556;25348530;25418920;25502872;25505266;25576301;25645385;25810538;25813380;25880248;25892735;25944712;25992861;26154972;26208004;26279360;26375851;26416966;26768311;26853435;26929215;26992070;27119567;27255086;27383988;27397612;27452731;27543614;27600516;27726376;27846572;27862975;27893789;27920218;28218747;28228285;28228593;28467828;28510447;28512129;28514659;28649982;28832583;28834231;28904123;29237092;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29765154;29769354;29786170;29789417;30315122;30410026;30429286;30444036;30459171;31217245;31492838;31611695;31735293;31844290;32119511;32157095;32350084;32357974;32363391;32366695;32387766;32488085;32502341;32518941;32676595;32783947;32870666;32897882;32938616;32967966;32983136;33043033;33077910;33091337;33141586;33214551;33298915;33310888;33370382;33392160;33562550;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34064874;34078123;34087483;34117209;34135428;34171305;34211107;34338405;34357683;34405274;34428449;34433824;34509645;34528721;34599882;34725712;34931806;34932366;34961524;35051231;35083852;35132862;35154160;35215835;35251023;35266843;35494241;35561310;35580925;35705054;36010968;36215666;36241641;36284347;36840500;37217939;37938771;38665916;38793607;38838015;39534244;40307207;40596516;40914422;7481823;7592972;7642652;7650016;7667286;7876241;7876246;7982500;7986008;8046351;8055875;8102790;8134367;8136357;8145819;8148318;8163531;8313912;8342042;8397411;8415765;8483502;8486646;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9188622;9202021;9311912;9312039;9342359;9420286;9497313;9539769;9545226;9605141;9606180;9642293", "class_list": "glycogene", "function": "Calcium-binding protein that interacts with newly synthesized monoglucosylated glycoproteins in the endoplasmic reticulum. It may act in assisting protein assembly and/or in the retention within the ER of unassembled protein subunits. It seems to play a major role in the quality control apparatus of the ER by the retention of incorrectly folded proteins. Associated with partial T-cell antigen receptor complexes that escape the ER of immature thymocytes, it may function as a signaling complex regulating thymocyte maturation. Additionally it may play a role in receptor-mediated endocytosis at the synapse., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; KAT7-mediated CANX (calnexin) crotonylation regulates leucine-stimulated MTORC1 activity., [RefSeq, PubMed]; PON2 ameliorates Ang II-induced cardiomyocyte injury by targeting the CANX/NOX4 signaling pathway., [RefSeq, PubMed]; This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2018]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 638, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B2R5V8;B4DGP8;B4E2T8;D3DWQ3;D6R9K3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0051082 unfolded protein binding;GO:0005509 calcium ion binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0019082 viral protein processing;GO:0006457 protein folding;GO:0072583 clathrin-dependent endocytosis;GO:0009306 protein secretion;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 37.2, "record_id": "P27824-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000001.010.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5D1E8-1", "uniprot_id": [ { "id": "ZC12A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5D1E8", "type": "external" } ], "mass": 65699.0, "length": 599, "protein_name": "Endoribonuclease ZC3H12A", "gene_name": "ZC3H12A", "organism": "Human", "refseq_name": "endoribonuclease ZC3H12A isoform a", "refseq_ac": [ { "id": "NP_001310479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310479", "type": "external" } ], "gene_names_uniprotkb": "ZC3H12A; MCPIP1; MCPIP", "gene_names_refseq": "MCPIP-1; MCPIP1; MCPIP; Reg1; ZC3H12A; dJ423B22.1", "protein_names_uniprotkb": "Endoribonuclease ZC3H12A; 3.1.-.-; MCP-induced protein 1; MCPIP-1; Monocyte chemotactic protein-induced protein 1; Reg1; Regnase-1; Zinc finger CCCH domain-containing protein 12A", "protein_names_refseq": "MCP-1 treatment-induced protein; MCP-induced protein 1; bifunctional endoribonuclease and deubiquitinase ZC3H12A; endoribonuclease ZC3H12A isoform a; endoribonuclease ZC3H12A; monocyte chemotactic protein-induced protein 1; regnase-1; ribonuclease ZC3H12A; zinc finger CCCH domain-containing protein 12A", "tax_id": 9606, "disease": "primary biliary cholangitis (Disease Ontology:DOID:12236); hepatitis B (Disease Ontology:DOID:2043)", "pathway": " (hsa:80149); (R-HSA-9764302)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "11237011;16574901;18178554;18364357;18691976;19185603;19747262;19909337;20137095;22037600;22055188;22561375;23185455;23186163;23355615;23481700;23500036;24008336;24048733;24191027;25418920;25861989;25880248;26134560;26320658;27846572;28832583;28904123;29242379;29508533;30833945;31154438;31217245;31530632;31844290;32157095;32161166;32350084;32357974;32502341;32938616;32983136;33298915;33691108;33968037;34171305;34185709;35051231;35580925;37814340;38311169;38830770;39292108;39428471", "class_list": "", "function": "(Microbial infection) Binds to Japanese encephalitis virus (JEV) and Dengue virus (DEN) RNAs., [UniProtKB, PubMed]; (Microbial infection) Exhibits antiviral activity against HIV-1 in lymphocytes by decreasing the abundance of HIV-1 viral RNA species., [UniProtKB, PubMed]; Crosstalk between Regnase-1 and -3 shapes mast cell survival and cytokine expression. Publication Status: Online-Only, [RefSeq, PubMed]; Data demonstrate the role amyloid precursor protein (APP) has in glial differentiation of NT2 cells through MCP-1(MCP-1)/MCP-1-induced protein (MCPIP) signaling, [RefSeq, PubMed]; Endoribonuclease involved in various biological functions such as cellular inflammatory response and immune homeostasis, glial differentiation of neuroprogenitor cells, cell death of cardiomyocytes, adipogenesis and angiogenesis. Functions as an endoribonuclease involved in mRNA decay (PubMed:19909337). Modulates the inflammatory response by promoting the degradation of a set of translationally active cytokine-induced inflammation-related mRNAs, such as IL6 and IL12B, during the early phase of inflammation (PubMed:26320658). Prevents aberrant T-cell-mediated immune reaction by degradation of multiple mRNAs controlling T-cell activation, such as those encoding cytokines (IL6 and IL2), cell surface receptors (ICOS, TNFRSF4 and TNFR2) and transcription factor (REL) (By similarity). Inhibits cooperatively with ZC3H12A the differentiation of helper T cells Th17 in lungs. They repress target mRNA encoding the Th17 cell-promoting factors IL6, ICOS, REL, IRF4, NFKBID and NFKBIZ. The cooperation requires RNA-binding by RC3H1 and the nuclease activity of ZC3H12A (By similarity). Together with RC3H1, destabilizes TNFRSF4/OX40 mRNA by binding to the conserved stem loop structure in its 3'UTR (By similarity). Self regulates by destabilizing its own mRNA (By similarity). Cleaves mRNA harboring a stem-loop (SL), often located in their 3'-UTRs, during the early phase of inflammation in a helicase UPF1-dependent manner (PubMed:19909337, PubMed:22561375, PubMed:26134560, PubMed:26320658). Plays a role in the inhibition of microRNAs (miRNAs) biogenesis (PubMed:22055188). Cleaves the terminal loop of a set of precursor miRNAs (pre-miRNAs) important for the regulation of the inflammatory response leading to their degradation, and thus preventing the biosynthesis of mature miRNAs (PubMed:22055188). Also plays a role in promoting angiogenesis in response to inflammatory cytokines by inhibiting the production of antiangiogenic microRNAs via its anti-dicer RNase activity (PubMed:24048733). Affects the overall ubiquitination of cellular proteins (By similarity). Positively regulates deubiquitinase activity promoting the cleavage at 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains on TNF receptor-associated factors (TRAFs), preventing JNK and NF-kappa-B signaling pathway activation, and hence negatively regulating macrophage-mediated inflammatory response and immune homeostasis (By similarity). Also induces deubiquitination of the transcription factor HIF1A, probably leading to its stabilization and nuclear import, thereby positively regulating the expression of proangiogenic HIF1A-targeted genes (PubMed:24048733). Involved in a TANK-dependent negative feedback response to attenuate NF-kappaB activation through the deubiquitination of IKBKG or TRAF6 in response to interleukin-1-beta (IL1B) stimulation or upon DNA damage (PubMed:25861989). Prevents stress granule (SGs) formation and promotes macrophage apoptosis under stress conditions, including arsenite-induced oxidative stress, heat shock and energy deprivation (By similarity). Plays a role in the regulation of macrophage polarization; promotes IL4-induced polarization of macrophages M1 into anti-inflammatory M2 state (By similarity). May also act as a transcription factor that regulates the expression of multiple genes involved in inflammatory response, angiogenesis, adipogenesis and apoptosis (PubMed:16574901, PubMed:18364357). Functions as a positive regulator of glial differentiation of neuroprogenitor cells through an amyloid precursor protein (APP)-dependent signaling pathway (PubMed:19185603). Attenuates septic myocardial contractile dysfunction in response to lipopolysaccharide (LPS) by reducing I-kappa-B-kinase (IKK)-mediated NF-kappa-B activation, and hence myocardial pro-inflammatory cytokine production (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, 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]; MCP-1-induced angiogenesis is mediated via MCPIP, at least in part through transcriptional activation of cdh12 and cdh19, [RefSeq, PubMed]; MCPIP1 Inhibits Hepatic Stellate Cell Activation in Autocrine and Paracrine Manners, Preventing Liver Fibrosis., [RefSeq, PubMed]; MCPIP1 modulates the miRNA-mRNA landscape in keratinocyte carcinomas. Publication Status: Online-Only, [RefSeq, PubMed]; MCPIP1, 2, 3, and 4, encoded by four genes, Zc3h12a, Zc3h12b, Zc3h12c, and Zc3h12d, respectively, regulates macrophage activation., [RefSeq, PubMed]; May cause cell death and plays important role in development of ischemic heart disease. Could be a potential target for therapeutic intervention., [RefSeq, PubMed]; Regnase-1 downregulation promotes pancreatic cancer through myeloid-derived suppressor cell-mediated evasion of anticancer immunity. Publication Status: Online-Only, [RefSeq, PubMed]; ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 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, "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": 5, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DPT0;Q6I9Z1;Q9H5P1", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0000932 P-body", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:1990869 cellular response to chemokine;GO:2000320 negative regulation of T-helper 17 cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001525 angiogenesis", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q5D1E8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15758-1", "uniprot_id": [ { "id": "AAAT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15758", "type": "external" } ], "mass": 56598.0, "length": 541, "protein_name": "Neutral amino acid transporter B(0)", "gene_name": "SLC1A5", "organism": "Human", "refseq_name": "neutral amino acid transporter B(0) isoform 2", "refseq_ac": [ { "id": "NP_001138616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138616", "type": "external" } ], "gene_names_uniprotkb": "SLC1A5; ASCT2; M7V1; RDRC; RDR", "gene_names_refseq": "AAAT; ASCT2; ATBO; M7V1; M7VS1; R16; RDRC; SLC1A5", "protein_names_uniprotkb": "Neutral amino acid transporter B(0); ATB(0); Baboon M7 virus receptor; RD114/simian type D retrovirus receptor; Sodium-dependent neutral amino acid transporter type 2; Solute carrier family 1 member 5", "protein_names_refseq": "ASC amino acid transporter-2; ATB(0); Alanine/serine/cysteine transporter 2; RD114 virus receptor; RD114/simian type D retrovirus receptor; baboon M7 virus receptor; neutral amino acid transporter B(0) isoform 2; neutral amino acid transporter B(0); neutral amino acid transporter B; sodium-dependent neutral amino acid transporter type 2; solute carrier family 1 (neutral amino acid transporter), member 5", "tax_id": 9606, "disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); episodic ataxia type 6 (Disease Ontology:DOID:0050994); neurodegenerative disease (Disease Ontology:DOID:1289); epilepsy (Disease Ontology:DOID:1826); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung adenocarcinoma (Disease Ontology:DOID:3910); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:6510); (R-HSA-352230); (R-HSA-9013149); (R-HSA-9013406); (R-HSA-9013407); (R-HSA-9013409); (R-HSA-9013423)", "pathway_count": 7, "publication_count": 401, "publication_id_list": "10.1101/2023.09.13.557529;10051606;10196349;10232922;10358010;10391915;10464238;10485994;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10698697;10699171;10699464;10708449;10823827;10863037;10873802;10891391;10903140;10930503;10958683;10967094;11007481;11058585;11085924;11149925;11185749;11237011;11243884;11278508;11318953;11342143;11350958;11368848;11373293;11396949;11417227;11431473;11432776;11584276;11591158;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11809807;11827462;11884391;11912491;11956649;11961559;12071859;12093360;12096337;12195014;12202949;12221096;12242347;12351724;12432077;12456725;12527723;12531887;12546821;12547822;12650940;12665586;12773384;12809675;12857875;12877655;12923183;12930836;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15151999;15302923;15304341;15339924;15342493;15485661;15507211;15546864;15579468;15601624;15611138;15659399;15710388;15728722;15850391;15858067;15897194;15918515;16002401;16112081;16116428;16184169;16243036;16473593;16492808;16507994;16519628;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17028588;17064668;17077126;17081065;17081983;17094966;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17976533;18006505;18045877;18195088;18218625;18249095;18292551;18347018;18396277;18426980;18578522;18653540;18669648;18697831;18838382;19258391;19269969;19349973;19413330;19494238;19534724;19605563;19651622;19673492;19690332;19713215;19748539;19901323;19934221;20068231;20184954;20400958;20460433;20679435;20810653;20851766;21097500;21148482;21406692;21454492;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22898188;22970203;22971344;23029280;23090970;23186163;23209303;23255595;23288169;23434736;23481700;23492904;23572525;23707487;23718289;23756778;23940355;24086303;24190977;24259668;24297911;24335996;24352656;24355937;24652292;24714562;24715725;24859002;24933155;24953180;24960694;25024229;25211221;25418920;25428919;25502872;25576301;25645385;25678704;25704760;25721503;25795300;25862245;25862406;26129894;26154972;26299518;26375851;26492990;26529257;26628301;26811146;26887924;26992070;27058226;27117132;27145964;27216196;27272177;27481945;27555588;27566826;27600516;27713499;27806292;27893789;28114311;28196833;28218747;28228285;28356423;28424515;28467828;28832583;28834231;28871256;28904123;29089502;29242379;29314611;29358323;29382922;29437277;29510700;29557506;29741879;29769354;29786170;29872227;30234109;30315122;30484775;30524438;30779550;30833945;30853411;31092671;31154438;31217245;31222486;31366933;31530632;31611695;31844290;31871319;31937595;32157095;32161166;32203420;32302585;32350084;32357974;32387766;32488085;32502341;32733894;32897882;32938616;32983136;33043033;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34211107;34357683;34433824;34509645;34561969;34741534;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;37074911;38159852;38400818;38427128;38650461;38671230;38802300;39095408;7479768;7512369;7559638;7589472;7673236;7721814;7753201;7835339;8010975;8021274;8101838;8107774;8340364;8537347;8543060;8643598;8645157;8662891;8702519;8756646;8769096;8798539;8805223;8810315;8816443;8910405;8939998;8990121;8994827;9013646;9099726;9113980;9174363;9252344;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9843499;9857026;9878049;9988689", "class_list": "", "function": "(Microbial infection) Acts as a cell surface receptor for Baboon M7 endogenous virus., [UniProtKB, PubMed]; (Microbial infection) Acts as a cell surface receptor for Feline endogenous virus RD114., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as a cell surface receptor for type D simian retroviruses., [UniProtKB, PubMed]; CircCPA4 induces ASCT2 expression to promote tumor property of non-small cell lung cancer cells in a miR-145-5p-dependent manner., [RefSeq, PubMed]; Radiation-induced exosomes promote oral squamous cell carcinoma progression via enhancing SLC1A5-glutamine metabolism., [RefSeq, PubMed]; Sodium-coupled antiporter of neutral amino acids. In a tri-substrate transport cycle, exchanges neutral amino acids between the extracellular and intracellular compartments, coupled to the inward cotransport of at least one sodium ion (PubMed:17094966, PubMed:23756778, PubMed:26492990, PubMed:29872227, PubMed:34741534, PubMed:8702519, PubMed:39095408, PubMed:27272177). The preferred substrate is the essential amino acid L-glutamine, a precursor for biosynthesis of proteins, nucleotides and amine sugars as well as an alternative fuel for mitochondrial oxidative phosphorylation. Exchanges L-glutamine with other neutral amino acids such as L-serine, L-threonine and L-asparagine in a bidirectional way. Provides L-glutamine to proliferating stem and activated cells driving the metabolic switch toward cell differentiation (PubMed:23756778, PubMed:24953180). The transport cycle is usually pH-independent, with the exception of L-glutamate. Transports extracellular L-glutamate coupled to the cotransport of one proton and one sodium ion in exchange for intracellular L-glutamine counter-ion. May provide for L-glutamate uptake in glial cells regulating glutamine/glutamate cycle in the nervous system (PubMed:32733894). Part of transport systems for D-amino acids. Mediates D-serine release from the retinal glia potentially affecting NMDA receptor function in retinal neurons. May contribute to D-serine reabsorption at the brush border of renal proximal tubules thus modulating the dynamics of urinary versus blood D-serine levels (PubMed:17094966, PubMed:38650461). Displays sodium- and amino acid-dependent but uncoupled channel-like anion conductance with a preference SCN(-) >> NO3(-) > I(-) > Cl(-) (By similarity). Through binding of the fusogenic protein syncytin-1/ERVW-1 may mediate trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development (PubMed:10708449, PubMed:23492904, PubMed:38671230)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural basis of the obligatory exchange mode of human neutral amino acid transporter ASCT2. Publication Status: Online-Only, [RefSeq, PubMed]; The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011]., [RefSeq]; The YBX3 RNA-binding protein posttranscriptionally controls SLC1A5 mRNA in proliferating and differentiating skeletal muscle cells., [RefSeq, PubMed]; USP48 deubiquitination stabilizes SLC1A5 to inhibit retinal pigment epithelium cell inflammation, oxidative stress and ferroptosis in the progression of diabetic retinopathy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 11, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K9H5;B4DR77;B4DWS4;B7ZB81;D0EYG6;E9PC01;O95720;Q96RL9;Q9BWQ3;Q9UNP2", "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" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0015171 amino acid transmembrane transporter activity;GO:0015175 neutral L-amino acid transmembrane transporter activity;GO:0015186 L-glutamine transmembrane transporter activity;GO:0015194 L-serine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0042470 melanosome;GO:0009925 basal plasma membrane", "go_biological_process": "GO:0030218 erythrocyte differentiation;GO:0006865 amino acid transport;GO:0006868 glutamine transport;GO:0010585 glutamine secretion;GO:0015804 neutral amino acid transport", "synthesized_glycan_count": 0, "hit_score": 41.5, "record_id": "Q15758-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00444-1", "uniprot_id": [ { "id": "PLK4_HUMAN", "url": "https://www.uniprot.org/uniprot/O00444", "type": "external" } ], "mass": 108972.0, "length": 970, "protein_name": "Serine/threonine-protein kinase PLK4", "gene_name": "PLK4", "organism": "Human", "refseq_name": "serine/threonine-protein kinase PLK4 isoform 2", "refseq_ac": [ { "id": "NP_001177728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177728", "type": "external" } ], "gene_names_uniprotkb": "PLK4; SAK; STK18", "gene_names_refseq": "MCCRP2; PLK4; SAK; STK18", "protein_names_uniprotkb": "Serine/threonine-protein kinase PLK4; 2.7.11.21; PLK-4; Polo-like kinase 4; Serine/threonine-protein kinase 18; Serine/threonine-protein kinase Sak", "protein_names_refseq": "Snk akin kinase; serine/threonine-protein kinase 18; serine/threonine-protein kinase PLK4 isoform 2; serine/threonine-protein kinase PLK4; serine/threonine-protein kinase Sak", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); microcephaly and chorioretinopathy 2 (Disease Ontology:DOID:0080106); colon cancer (Disease Ontology:DOID:219); breast ductal carcinoma (Disease Ontology:DOID:3007); hepatocellular carcinoma (Disease Ontology:DOID:684); diabetic retinopathy (Disease Ontology:DOID:8947)", "pathway": " (hsa:10733); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 143, "publication_id_list": "11076968;11237011;11489907;11956313;12207013;12221128;12364337;12852856;1311287;13678582;14580337;15498487;15705883;15967108;16244668;16326102;16357211;16462731;16890155;17344846;17574030;17646400;17681131;17719545;18037885;18239451;18378770;18477460;18521620;18566290;18615013;18669648;18691976;18694559;18801063;19004860;19081074;19164942;19369195;19454482;19940019;20032307;20100909;20230748;20308558;20399632;20558667;20852615;21059844;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21725316;21792235;21985771;22020124;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24982133;25047611;25174401;25313408;25344692;25532896;25576301;25645385;25880248;25892735;26101219;26992070;27246242;27796307;27846572;28218747;28228285;28832583;28904123;29242379;29437277;29493099;29632046;29712910;29769354;29786170;30315122;30804208;31000710;31142743;31154438;31844290;32157095;32357974;32387766;32433990;32488085;32501498;32897882;33298915;33392160;33402344;33592498;33912179;33968037;33981976;34087483;34932366;35051231;35580925;36010968;36241641;36284347;36590171;37707473;37773039;38290657;38490717;7769006;7790358;8260651;8838651", "class_list": "", "function": "CRL4[DCAF1] ubiquitin ligase regulates PLK4 protein levels to prevent premature centriole duplication. Publication Status: Online-Only, [RefSeq, PubMed]; Centrosomal organization of Cep152 provides flexibility in Plk4 and procentriole positioning., [RefSeq, PubMed]; PLK4 self-phosphorylation drives the selection of a single site for procentriole assembly. Erratum:[J Cell Biol. 2024 Jan 1;223(1):e20230106912112023c. doi: 10.1083/jcb.20230106912112023c. PMID: 38095873], [RefSeq, PubMed]; Polo-like kinase 4 promotes tumorigenesis and glucose metabolism in glioma by activating AKT1 signaling., [RefSeq, PubMed]; Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CPAP, CCP110, CEP135 and gamma-tubulin. When overexpressed, it is able to induce centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole during S phase. Phosphorylates 'Ser-151' of FBXW5 during the G1/S transition, leading to inhibit FBXW5 ability to ubiquitinate SASS6. Its central role in centriole replication suggests a possible role in tumorigenesis, centrosome aberrations being frequently observed in tumors. Also involved in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Also involved in trophoblast differentiation by phosphorylating HAND1, leading to disrupt the interaction between HAND1 and MDFIC and activate HAND1. Phosphorylates CDC25C and CHEK2. Required for the recruitment of STIL to the centriole and for STIL-mediated centriole amplification (PubMed:22020124). Phosphorylates CEP131 at 'Ser-78' and PCM1 at 'Ser-372' which is essential for proper organization and integrity of centriolar satellites (PubMed:30804208)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. Three alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jun 2010]., [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": 25, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAL0;B7Z837;B7Z8G7;Q8IYF0;Q96Q95;Q9UD84;Q9UDE2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.1.40", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.5.2", "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": "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": "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:0005524 ATP binding;GO:0042802 identical protein binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0032154 cleavage furrow", "go_biological_process": "GO:0046601 positive regulation of centriole replication;GO:0006468 protein phosphorylation;GO:0060271 cilium assembly;GO:0060707 trophoblast giant cell differentiation;GO:0007099 centriole replication", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "O00444-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11142-1", "uniprot_id": [ { "id": "HSP7C_HUMAN", "url": "https://www.uniprot.org/uniprot/P11142", "type": "external" } ], "mass": 70898.0, "length": 646, "protein_name": "Heat shock cognate 71 kDa protein", "gene_name": "HSPA8", "organism": "Human", "refseq_name": "heat shock cognate 71 kDa protein isoform 1", "refseq_ac": [ { "id": "NP_006588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006588", "type": "external" } ], "gene_names_uniprotkb": "HSPA8; HSC70; HSP73; HSPA10", "gene_names_refseq": "HEL-33; HEL-S-72p; HSC54; HSC70; HSC71; HSP71; HSP73; HSPA10; HSPA8; LAP-1; LAP1; NIP71", "protein_names_uniprotkb": "Heat shock cognate 71 kDa protein; 3.6.4.10; Heat shock 70 kDa protein 8; Heat shock protein family A member 8; LAP-1; LPS-associated protein 1; Lipopolysaccharide-associated protein 1", "protein_names_refseq": "LPS-associated protein 1; N-myristoyltransferase inhibitor protein 71; constitutive heat shock protein 70; epididymis luminal protein 33; epididymis secretory sperm binding protein Li 72p; heat shock 70kDa protein 8; heat shock 70kd protein 10; heat shock cognate 71 kDa protein isoform 1; heat shock cognate 71 kDa protein; heat shock cognate protein 54; heat shock protein family A member 8; lipopolysaccharide-associated protein 1", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); graft-versus-host disease (Disease Ontology:DOID:0081267); renal hypertension (Disease Ontology:DOID:1073); hypertension (Disease Ontology:DOID:10763); Parkinson's disease (Disease Ontology:DOID:14330); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); acute kidney failure (Disease Ontology:DOID:3021); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); cervical cancer (Disease Ontology:DOID:4362); macular degeneration (Disease Ontology:DOID:4448); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:3312); (R-HSA-3371453); (R-HSA-3371497); (R-HSA-3371568); (R-HSA-3371571); (R-HSA-432720); (R-HSA-432722); (R-HSA-447041); (R-HSA-450408); (R-HSA-6785807); (R-HSA-6798695); (R-HSA-72163); (R-HSA-8856828); (R-HSA-8876725); (R-HSA-888590); (R-HSA-9613354); (R-HSA-9613829); (R-HSA-9615710); (R-HSA-9828642); (R-HSA-9833482); (R-HSA-9918481); (R-HSA-9918487)", "pathway_count": 22, "publication_count": 828, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) In case of rotavirus A infection, serves as a post-attachment receptor for the virus to facilitate entry into the cell., [UniProtKB, UniProtKB]; Experimental and computational investigation of the effect of Hsc70 structural variants on inhibiting amylin aggregation., [RefSeq, PubMed]; HSPA8 Chaperone Complex Drives Chaperone-Mediated Autophagy Regulation in Acute Promyelocytic Leukemia Cell Differentiation., [RefSeq, PubMed]; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, chaperone-mediated autophagy, activation of proteolysis of misfolded proteins, formation and dissociation of protein complexes, and antigen presentation. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation (PubMed:21148293, PubMed:21150129, PubMed:23018488, PubMed:24732912, PubMed:27916661, PubMed:2799391, PubMed:36586411). This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones (PubMed:12526792, PubMed:21148293, PubMed:21150129, PubMed:23018488, PubMed:24732912, PubMed:27916661). The co-chaperones have been shown to not only regulate different steps of the ATPase cycle of HSP70, but they also have an individual specificity such that one co-chaperone may promote folding of a substrate while another may promote degradation (PubMed:12526792, PubMed:21148293, PubMed:21150129, PubMed:23018488, PubMed:24732912, PubMed:27916661). The affinity of HSP70 for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. HSP70 goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release. The HSP70-associated co-chaperones are of three types: J-domain co-chaperones HSP40s (stimulate ATPase hydrolysis by HSP70), the nucleotide exchange factors (NEF) such as BAG1/2/3 (facilitate conversion of HSP70 from the ADP-bound to the ATP-bound state thereby promoting substrate release), and the TPR domain chaperones such as HOPX and STUB1 (PubMed:24121476, PubMed:24318877, PubMed:26865365, PubMed:27474739). Plays a critical role in mitochondrial import, delivers preproteins to the mitochondrial import receptor TOMM70 (PubMed:12526792). Acts as a repressor of transcriptional activation. Inhibits the transcriptional coactivator activity of CITED1 on Smad-mediated transcription. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:10722728, PubMed:11276205). Substrate recognition component in chaperone-mediated autophagy (CMA), a selective protein degradation process that mediates degradation of proteins with a -KFERQ motif: HSPA8/HSC70 specifically recognizes and binds cytosolic proteins bearing a -KFERQ motif and promotes their recruitment to the surface of the lysosome where they bind to lysosomal protein LAMP2 (PubMed:11559757, PubMed:2799391, PubMed:36586411). KFERQ motif-containing proteins are eventually transported into the lysosomal lumen where they are degraded (PubMed:11559757, PubMed:2799391, PubMed:36586411). In conjunction with LAMP2, facilitates MHC class II presentation of cytoplasmic antigens by guiding antigens to the lysosomal membrane for interaction with LAMP2 which then elicits MHC class II presentation of peptides to the cell membrane (PubMed:15894275). Participates in the ER-associated degradation (ERAD) quality control pathway in conjunction with J domain-containing co-chaperones and the E3 ligase STUB1 (PubMed:23990462). It is recruited to clathrin-coated vesicles through its interaction with DNAJC6 leading to activation of HSPA8/HSC70 ATPase activity and therefore uncoating of clathrin-coated vesicles (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the heat shock protein 70 family, which contains both heat-inducible and constitutively expressed members. This protein belongs to the latter group, which are also referred to as heat-shock cognate proteins. It functions as a chaperone, and binds to nascent polypeptides to facilitate correct folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 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"id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.5.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.124", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "1.3.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.91", "type": "external" }, { "id": "2.7.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.91", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0055131 C3HC4-type RING finger domain binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0098575 lumenal side of lysosomal membrane;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0061684 chaperone-mediated autophagy;GO:1902904 negative regulation of supramolecular fiber organization;GO:1904589 regulation of protein import;GO:1904764 chaperone-mediated autophagy translocation complex disassembly;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 84.3, "record_id": "P11142-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15533-1", "uniprot_id": [ { "id": "TPSN_HUMAN", "url": "https://www.uniprot.org/uniprot/O15533", "type": "external" } ], "mass": 47571.0, "length": 448, "protein_name": "Tapasin", "gene_name": "TAPBP", "organism": "Human", "refseq_name": "tapasin isoform 1 precursor", "refseq_ac": [ { "id": "NP_003181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003181", "type": "external" } ], "gene_names_uniprotkb": "TAPBP; NGS17; TAPA", "gene_names_refseq": "MHC1D3; NGS17; TAPA; TAPBP; TPN; TPSN", "protein_names_uniprotkb": "Tapasin; NGS-17; TAP-associated protein; TAP-binding protein; TPN; TPSN", "protein_names_refseq": "NGS-17; TAP binding protein (tapasin); TAP-associated protein; tapasin isoform 1 precursor", "tax_id": 9606, "disease": "severe combined immunodeficiency (Disease Ontology:DOID:627); MHC class I deficiency 3 (MONDO:MONDO:0971012)", "pathway": " (hsa:6892); (R-HSA-1236974); (R-HSA-983170)", "pathway_count": 3, "publication_count": 99, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10064069;10088603;10382748;10600378;10636848;10777614;10825291;10982397;11160214;11163199;11237011;11514579;12149238;12436109;12436110;12582157;12645939;14668790;14681859;14718384;15286279;15927284;16465444;16473882;17056546;17088086;17316621;17656363;18692471;19119025;19159218;19193869;19217269;19261456;19342655;19361863;19426129;19575639;19851281;20068231;2038058;20600451;20605430;21050182;21263072;22153078;22638925;23613522;23783831;2450918;25083866;25645385;25813380;26611325;27452731;27543614;27862975;27920218;28063628;28218747;28228285;28649982;28832583;28834231;29242379;29393594;29508533;29632046;29632711;29741879;29769354;29786170;29789417;30315122;30524438;30779550;31848261;31937595;31998317;32161166;32958637;36215666;36284347;38516804;38665916;38948930;38992170;40914422;7642652;7876241;8342042;9238042;9271576;9521053;9545376;9605141;9802609", "class_list": "", "function": "A genetic variant in the TAPBP gene enhances cervical cancer susceptibility by increasing m[6]A modification., [RefSeq, PubMed]; Identification of RNA-binding protein hnRNP C targeting the 3'UTR of the TAP-associated glycoprotein tapasin in melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The downregulation of Tapasin in dendritic cell regulates CD8[+] T cell autophagy to hamper hepatitis B viral clearance in the induced pluripotent stem cell-derived hepatocyte organoid., [RefSeq, PubMed]; This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [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, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2AB91;A2ABC0;B0V003;B0V0A6;B2ZUA4;E9PGM2;O15210;O15272;Q5STJ8;Q5STK6;Q5STQ5;Q5STQ6;Q66K65;Q96KK7;Q9HAN8;Q9UEE0;Q9UEE4;Q9UIZ6;Q9Y6K2", "ec_number_list": [], "go_molecular_function": "GO:0046978 TAP1 binding;GO:0046979 TAP2 binding;GO:0023024 MHC class I protein complex binding;GO:0060090 molecular adaptor activity;GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0030670 phagocytic vesicle membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane", "go_biological_process": "GO:0050823 peptide antigen stabilization;GO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0010468 regulation of gene expression;GO:0061635 regulation of protein complex stability", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "O15533-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36897-1", "uniprot_id": [ { "id": "TGFR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P36897", "type": "external" } ], "mass": 55960.0, "length": 503, "protein_name": "TGF-beta receptor type-1", "gene_name": "TGFBR1", "organism": "Human", "refseq_name": "TGF-beta receptor type-1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001124388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124388", "type": "external" } ], "gene_names_uniprotkb": "TGFBR1; ALK5; SKR4", "gene_names_refseq": "AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1A; LDS1; LDS2A; MSSE; SKR4; TBR-i; TBRI; TGFBR1; TGFR-1; tbetaR-I", "protein_names_uniprotkb": "TGF-beta receptor type-1; 2.7.11.30; ALK-5; ALK5; Activin A receptor type II-like protein kinase of 53kD; Activin receptor-like kinase 5; SKR4; Serine/threonine-protein kinase receptor R4; TGF-beta receptor type I; TGF-beta type I receptor; TGFR-1; TbetaR-I; Transforming growth factor-beta receptor type I", "protein_names_refseq": "TGF-beta receptor type-1 isoform 2 precursor; TGF-beta receptor type-1; activin A receptor type II-like kinase, 53kDa; activin A receptor type II-like protein kinase of 53kD; activin receptor-like kinase 5; mutant transforming growth factor beta receptor I; serine/threonine-protein kinase receptor R4; transforming growth factor beta receptor I; transforming growth factor-beta receptor type I", "tax_id": 9606, "disease": "Loeys-Dietz syndrome (Disease Ontology:DOID:0050466); Loeys-Dietz syndrome 1 (Disease Ontology:DOID:0070235); urinary bladder cancer (Disease Ontology:DOID:11054); leiomyoma (Disease Ontology:DOID:127); osteochondrodysplasia (Disease Ontology:DOID:2256); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); Lynch syndrome (Disease Ontology:DOID:3883); systemic scleroderma (Disease Ontology:DOID:418); kidney disease (Disease Ontology:DOID:557); Ferguson-Smith tumor (Disease Ontology:DOID:5585); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); osteoarthritis (Disease Ontology:DOID:8398); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:7046); (R-HSA-2173788); (R-HSA-2173789); (R-HSA-2173791); (R-HSA-3304356); (R-HSA-3645790); (R-HSA-3656532); (R-HSA-3656535); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-9839389)", "pathway_count": 11, "publication_count": 218, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10025408;10416594;10444327;10519551;10757800;10789724;10877843;10982817;11100470;11141505;11158580;11163210;11237011;11278251;11323414;11390472;11447115;11477574;11566882;11583628;11923872;12118074;12151385;12482908;12519765;12917689;12917691;12941698;12947057;12953056;12958365;1310899;1333888;14657501;14661020;14701756;14718519;15053880;15177479;15317461;15350224;15385056;15496141;15505640;15564041;15731757;15761148;15781469;15916963;16027725;16061177;16214042;16596670;16754747;16791849;16901786;16906146;16928994;16964248;17099224;17139257;17290220;17344846;17443180;17845732;17873522;17980597;17981138;18172164;18243111;18467330;18469808;18497827;18625725;18632802;18636086;18758450;18987736;19015242;19135894;19188362;19188440;19363159;19369195;19398555;19424180;19720988;19758997;19815555;19838211;19874889;19883511;19910467;20061380;20068231;20096447;20129061;20207738;20228808;20368735;20436459;20501646;20625381;20805357;20937913;21239494;21258369;21358634;21362556;21571647;21596315;21659512;21791611;21849505;21962518;22029577;22045334;22085928;22113417;22128162;22216260;22344298;23139211;23159851;23290522;23290524;23395819;23481700;23486064;23525077;23584533;23824326;23825189;24056413;24260525;24493797;24715725;24896179;25197364;25305019;2530630;25502872;25578727;25645385;25893292;26583432;26992070;27920218;28832583;28871256;29242379;29314611;29437277;29557506;29572483;29632711;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32350084;32387766;32488085;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33914044;33936100;33968037;33981976;34932366;35051231;35154160;35251023;35318648;35580925;36215666;36378749;38981014;39113797;39333849;7578059;7693660;7737999;7774578;7823948;8047140;8242743;8521960;8576253;8752209;8947046;8980228;9215638;9233797;9311995;9335507;9346908;9346966;9417915;9472030;9528852;9661882;9679059;9759503;9790970;9856985;9865696;9927040", "class_list": "", "function": "CD9 promotes TbetaR2-TbetaR1 association driving the transition of human dermal fibroblasts to myofibroblast under hypoxia. Publication Status: Online-Only, [RefSeq, PubMed]; ISG15 accelerates acute kidney injury and the subsequent AKI-to-CKD transition by promoting TGFbetaR1 ISGylation. Publication Status: Online-Only, [RefSeq, PubMed]; Stabilization of TGF-beta Receptor 1 by a Receptor-Associated Adaptor Dictates Feedback Activation of the TGF-beta Signaling Pathway to Maintain Liver Cancer Stemness and Drug Resistance., [RefSeq, PubMed]; The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]., [RefSeq]; Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis (PubMed:33914044). The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. For instance, TGFBR1 induces TRAF6 autoubiquitination which in turn results in MAP3K7 ubiquitination and activation to trigger apoptosis. Also regulates epithelial to mesenchymal transition through a SMAD-independent signaling pathway through PARD6A phosphorylation and activation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 14, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6IR47;Q706C0;Q706C1", "ec_number_list": [ { "id": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "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:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0009986 cell surface", "go_biological_process": "GO:0010717 regulation of epithelial to mesenchymal transition;GO:0060017 parathyroid gland development;GO:0001701 in utero embryonic development;GO:0007165 signal transduction;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "P36897-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52209-1", "uniprot_id": [ { "id": "6PGD_HUMAN", "url": "https://www.uniprot.org/uniprot/P52209", "type": "external" } ], "mass": 53140.0, "length": 483, "protein_name": "6-phosphogluconate dehydrogenase, decarboxylating", "gene_name": "PGD", "organism": "Human", "refseq_name": "6-phosphogluconate dehydrogenase, decarboxylating isoform 2", "refseq_ac": [ { "id": "NP_001291380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291380", "type": "external" } ], "gene_names_uniprotkb": "PGD; PGDH", "gene_names_refseq": "6PGD; PGD", "protein_names_uniprotkb": "6-phosphogluconate dehydrogenase, decarboxylating; 1.1.1.44", "protein_names_refseq": "6-phosphogluconate dehydrogenase, decarboxylating isoform 2; 6-phosphogluconate dehydrogenase, decarboxylating", "tax_id": 9606, "disease": "", "pathway": " (hsa:5226); (R-HSA-71336); (R-HSA-9818028)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "10518023;10869557;11237011;11283793;12234984;14988808;16408927;17585908;17804405;18186520;18560757;18775706;19273602;19608861;20068231;20923965;21775727;22682222;22789539;22965115;23301498;24366607;25229427;25418920;25576301;2581946;25892735;26768311;26853435;26992070;27920218;28218747;28228285;28514659;28832583;28904123;29242379;29314611;29331515;29437277;29557506;29769354;30315122;30779550;30824700;30833945;31020640;31092671;31154438;31217245;31530632;31717259;31844290;31989830;32119511;32157095;32161166;32284348;32303435;32336239;32350084;32357974;32387766;32502341;32582032;32649885;32719331;32829780;32938616;32983136;33141586;33214551;33392160;33465208;33691108;33717175;33859744;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34725712;35051231;35083852;35138101;35154160;35251023;35580925;36010968;36215666;36241641;37071129;37938771;38665916;39179096;3932573;39534244;3994686;40596516;40914422;7396409;8300619;8978909;9357955;9920387", "class_list": "", "function": "6-Phosphogluconate dehydrogenase promotes glycolysis and fatty acid synthesis by inhibiting the AMPK pathway in lung adenocarcinoma cells., [RefSeq, PubMed]; 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]., [RefSeq]; 6PGD Upregulation is Associated with Chemo- and Immuno-Resistance of Renal Cell Carcinoma via AMPK Signaling-Dependent NADPH-Mediated Metabolic Reprograming., [RefSeq, PubMed]; Catalyzes the oxidative decarboxylation of 6-phosphogluconate to ribulose 5-phosphate and CO(2), with concomitant reduction of NADP to NADPH., [UniProtKB]; Critical Role of 6-Phosphogluconate Dehydrogenase in TAp73-Mediated Cancer Cell Proliferation., [RefSeq, PubMed]; HIF-1alpha regulates cellular metabolism, and Imatinib resistance by targeting phosphogluconate dehydrogenase in gastrointestinal stromal tumors. 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, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K2Y9;B4DQJ8;Q9BWD8", "ec_number_list": [ { "id": "1.1.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.44", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0031406 carboxylic acid binding;GO:0030246 carbohydrate binding;GO:0004616 phosphogluconate dehydrogenase (decarboxylating) activity;GO:0050661 NADP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006098 pentose-phosphate shunt;GO:0009051 pentose-phosphate shunt, oxidative branch;GO:0019521 D-gluconate metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "P52209-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30291-1", "uniprot_id": [ { "id": "WEE1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30291", "type": "external" } ], "mass": 71597.0, "length": 646, "protein_name": "Wee1-like protein kinase", "gene_name": "WEE1", "organism": "Human", "refseq_name": "wee1-like protein kinase isoform 2", "refseq_ac": [ { "id": "NP_001137448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137448", "type": "external" } ], "gene_names_uniprotkb": "WEE1", "gene_names_refseq": "WEE1A; WEE1hu; WEE1", "protein_names_uniprotkb": "Wee1-like protein kinase; 2.7.10.2; WEE1hu; Wee1A kinase", "protein_names_refseq": "WEE1 homolog; WEE1+ homolog; wee1-like protein kinase isoform 2; wee1-like protein kinase; wee1A kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:7465); (R-HSA-156711); (R-HSA-69202); (R-HSA-69273); (R-HSA-69478); (R-HSA-69656); (R-HSA-75035); (R-HSA-983231)", "pathway_count": 8, "publication_count": 205, "publication_id_list": "10323868;10330186;10375532;10393926;10395539;10435585;10454565;10600115;10652300;10827953;11042108;11062261;11063929;11231585;11237011;11238451;11242053;11313932;11528126;11585773;11744692;11751636;11895428;11897663;11907280;11950885;12032298;12134158;12411508;12427746;12730199;12738781;12754270;12766774;1312467;1384126;1396589;15020713;15024056;15037762;15070733;15150265;15247287;15253423;15350223;15456846;15572030;15654331;15710388;15837193;15964826;16054028;16085715;1630448;16582612;16964243;17027967;17081983;1717476;17192257;17196961;17322306;17344846;17533373;18220336;1828290;18285455;1836978;18384749;18394995;1840647;18560763;18691976;18767875;19160488;19192479;19293402;19651622;19664995;19690332;20026642;20068231;20360007;20530532;20627800;21813648;218813;21900495;22391450;22479455;22692537;22730174;23051732;23109430;23186163;23240008;23242214;23481700;24053672;24381593;24714562;24715725;25283841;25418920;25576301;25744022;26154972;26375851;26758079;26845023;26992070;27600516;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29154753;29187878;29242379;29393594;29493099;29557506;29632046;29632711;29754473;29786170;30315122;30379171;30429286;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32410646;32488085;32502341;32897882;32938616;32983136;33108758;33298915;33392160;33402344;33537174;33592498;33691108;33717175;33771996;33796458;33912179;33936100;33968037;33981976;3409321;34171305;34185709;34561969;34932366;35051231;35561310;35580925;36010968;37516591;37863324;38047473;39213054;7629134;7737117;7743995;7799941;8119945;8348613;8428596;8440392;8662638;8700224;8703070;8816476;9065479;9230307;9268380;9326583;9331217;9422515;9482921;9632134;9670027;9679058;9891042;9927674", "class_list": "", "function": "Acts as a negative regulator of entry into mitosis (G2 to M transition) by protecting the nucleus from cytoplasmically activated cyclin B1-complexed CDK1 before the onset of mitosis by mediating phosphorylation of CDK1 on 'Tyr-15' (PubMed:15070733, PubMed:7743995, PubMed:8348613, PubMed:8428596). Specifically phosphorylates and inactivates cyclin B1-complexed CDK1 reaching a maximum during G2 phase and a minimum as cells enter M phase (PubMed:7743995, PubMed:8348613, PubMed:8428596). Phosphorylation of cyclin B1-CDK1 occurs exclusively on 'Tyr-15' and phosphorylation of monomeric CDK1 does not occur (PubMed:7743995, PubMed:8348613, PubMed:8428596). Its activity increases during S and G2 phases and decreases at M phase when it is hyperphosphorylated (PubMed:7743995). A correlated decrease in protein level occurs at M/G1 phase, probably due to its degradation (PubMed:7743995)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Circulating RNA ZFR promotes hepatocellular carcinoma cell proliferation and epithelial-mesenchymal transition process through miR-624-3p/WEE1 axis., [RefSeq, PubMed]; E2F8 exerts cancer-promoting effects by transcriptionally activating RRM2 and E2F8 knockdown synergizes with WEE1 inhibition in suppressing lung adenocarcinoma., [RefSeq, PubMed]; Identification of DNA methylation-regulated WEE1 with potential implications in prognosis and immunotherapy for low-grade glioma., [RefSeq, PubMed]; In silico and structure-based evaluation of deleterious mutations identified in human Chk1, Chk2, and Wee1 protein kinase., [RefSeq, PubMed]; This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [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, "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": 31, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 11, "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": "B3KVE1;D3DQV0", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "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": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "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": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle;GO:2000134 negative regulation of G1/S transition of mitotic cell cycle;GO:0045740 positive regulation of DNA replication;GO:0010972 negative regulation of G2/M transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 20.8, "record_id": "P30291-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N357-1", "uniprot_id": [ { "id": "S35F6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N357", "type": "external" } ], "mass": 40214.0, "length": 371, "protein_name": "Solute carrier family 35 member F6", "gene_name": "SLC35F6", "organism": "Human", "refseq_name": "solute carrier family 35 member F6 precursor", "refseq_ac": [ { "id": "NP_060347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060347", "type": "external" } ], "gene_names_uniprotkb": "SLC35F6; C2orf18; PRO9863", "gene_names_refseq": "ANT2BP; C2orf18; SLC35F6; TANGO9", "protein_names_uniprotkb": "Solute carrier family 35 member F6; ANT2-binding protein; ANT2BP; Transport and Golgi organization 9 homolog", "protein_names_refseq": "ANT2-binding protein; solute carrier family 35 member F6 precursor; transmembrane protein C2orf18; transport and golgi organization 9 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:54978)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;12975309;16303743;18578522;18669648;18691976;18767875;19154410;19413330;20957757;25576301;26811146;26992070;27862975;28218747;28904123;29242379;29485866;29786170;30192525;30315122;30429286;30833945;31530632;31611695;31848261;32157095;32161166;32350084;32387766;32488085;32938616;33043033;33592498;34087483;34171305;34357683;36010968;36215666;38928424", "class_list": "", "function": "C2orf18, termed ANT2-binding protein (ANT2BP), might serve as a candidate molecular target for pancreatic cancer therapy., [RefSeq, PubMed]; Involved in the maintenance of mitochondrial membrane potential in pancreatic ductal adenocarcinoma (PDAC) cells. Promotes pancreatic ductal adenocarcinoma (PDAC) cell growth. May play a role as a nucleotide-sugar transporter., [UniProtKB, PubMed]; Residence of the Nucleotide Sugar Transporter Family Members SLC35F1 and SLC35F6 in the Endosomal/Lysosomal Pathway. Publication Status: Online-Only, [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "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": "D6W543;Q53GK2;Q8NBX6;Q9NWX0", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:1901029 negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q8N357-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14416-1", "uniprot_id": [ { "id": "GRM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14416", "type": "external" } ], "mass": 95568.0, "length": 872, "protein_name": "Metabotropic glutamate receptor 2", "gene_name": "GRM2", "organism": "Human", "refseq_name": "metabotropic glutamate receptor 2 isoform a precursor", "refseq_ac": [ { "id": "NP_000830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000830", "type": "external" } ], "gene_names_uniprotkb": "GRM2; GPRC1B; MGLUR2", "gene_names_refseq": "GLUR2; GPRC1B; GRM2; MGLUR2; mGlu2", "protein_names_uniprotkb": "Metabotropic glutamate receptor 2; mGluR2", "protein_names_refseq": "glutamate receptor homolog; glutamate receptor, metabotropic 2; metabotropic glutamate receptor 2 isoform a precursor; metabotropic glutamate receptor 2", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:2912); (R-HSA-418594); (R-HSA-420499)", "pathway_count": 3, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;10908604;11007482;11208605;11237011;11317221;11917125;12120503;1329206;15194188;15576628;15951850;16634148;16923326;18297054;18434541;18577758;20022913;20555319;21148030;22300836;23121374;23129762;23674604;24235081;2534964;25576301;25892735;26313429;27071541;2748346;2834384;29393594;29557506;29614098;30028877;31844290;32387766;34903715;35051231;35580925;36889432;37286794;37629122;38739800;38849624;7476890;7617140;7620613;7623957;7759551;7908515;7937899;8015379;8406495;8887960;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "(Microbial infection) Acts as a host entry factor for SARS-CoV-2 that hijacks the endocytosis of GRM2 to enter cells., [UniProtKB, PubMed]; (Microbial infection) Acts as a host entry factor for rabies virus that hijacks the endocytosis of GRM2 to enter cells., [UniProtKB, PubMed]; (Microbial infection) Plays an important role in influenza virus internalization., [UniProtKB, PubMed]; Dimeric G protein-coupled receptor which is activated by the excitatory neurotransmitter L-glutamate (PubMed:37286794). Plays critical roles in modulating synaptic transmission and neuronal excitability. Upon activation by glutamate, inhibits presynaptic calcium channels, reducing further glutamate release and dampening excitatory signaling (By similarity). Mechanistically, ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. May mediate suppression of neurotransmission or may be involved in synaptogenesis or synaptic stabilization., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Exploring the activation mechanism of metabotropic glutamate receptor 2., [RefSeq, PubMed]; Heterodimerization of Chemoreceptors TAS1R3 and mGlu2 in Human Blood Leukocytes. Publication Status: Online-Only, [RefSeq, PubMed]; L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The crosstalk between 5-HT2AR and mGluR2 in schizophrenia. Review article, [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 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": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B0M0K7;Q14CU5;Q52MC6;Q9H3N6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005246 calcium channel regulator activity;GO:0097110 scaffold protein binding;GO:0001641 group II metabotropic glutamate receptor activity;GO:0008066 glutamate receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0030424 axon;GO:0030425 dendrite;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0014048 regulation of glutamate secretion;GO:0007194 negative regulation of adenylate cyclase activity;GO:0035095 behavioral response to nicotine;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q14416-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JR59-2", "uniprot_id": [ { "id": "MTUS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JR59", "type": "external" } ], "mass": 150195.0, "length": 1369, "protein_name": "Microtubule-associated tumor suppressor candidate 2", "gene_name": "MTUS2", "organism": "Human", "refseq_name": "microtubule-associated tumor suppressor candidate 2 isoform b", "refseq_ac": [ { "id": "NP_056048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056048", "type": "external" } ], "gene_names_uniprotkb": "MTUS2; CAZIP; KIAA0774; TIP150", "gene_names_refseq": "CAZIP; ICIS; KIAA0774; MTUS2; TIP150", "protein_names_uniprotkb": "Microtubule-associated tumor suppressor candidate 2; Cardiac zipper protein; Microtubule plus-end tracking protein TIP150; Tracking protein of 150 kDa", "protein_names_refseq": "+TIP of 150 kDa; cardiac zipper protein; microtubule associated tumor suppressor candidate 2; microtubule plus-end tracking protein TIP150; microtubule-associated tumor suppressor candidate 2 isoform b; tracking protein of 150 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:23281)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "19543227;19806667;20068231;29557506;29632711;30379171;30620550;31217245;31844290;32387766;35051231;38380866", "class_list": "", "function": "Binds microtubules. Together with MAPRE1 may target the microtubule depolymerase KIF2C to the plus-end of microtubules. May regulate the dynamics of microtubules at their growing distal tip., [UniProtKB, PubMed]; TIP150 facilitates the EB1-dependent loading of MCAK onto MT plus ends and orchestrates the dynamics at the plus end of MTs., [RefSeq, PubMed]; These results suggest a role for CAZIP in development and function of the heart and nervous system in vertebrates., [RefSeq, PubMed]; Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease., [RefSeq, 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, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A7E292;B4DF81;O94872;Q08E97;Q5JQR3;Q8N5E2", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005874 microtubule;GO:0015630 microtubule cytoskeleton;GO:0045171 intercellular bridge", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q5JR59-2", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP78-1", "uniprot_id": [ { "id": "ABCB9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP78", "type": "external" } ], "mass": 84475.0, "length": 766, "protein_name": "ABC-type oligopeptide transporter ABCB9", "gene_name": "ABCB9", "organism": "Human", "refseq_name": "ABC-type oligopeptide transporter ABCB9 isoform 6", "refseq_ac": [ { "id": "NP_001229942", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229942", "type": "external" } ], "gene_names_uniprotkb": "ABCB9; KIAA1520", "gene_names_refseq": "ABCB9; EST122234; TAPL", "protein_names_uniprotkb": "ABC-type oligopeptide transporter ABCB9; 7.4.2.6; ABC transporter 9 protein; ATP-binding cassette sub-family B member 9; ATP-binding cassette transporter 9; TAP-like protein; TAPL; hABCB9", "protein_names_refseq": "ABC transporter 9 protein; ABC-type oligopeptide transporter ABCB9 isoform 6; ABC-type oligopeptide transporter ABCB9; ATP-binding cassette sub-family B member 9; ATP-binding cassette, sub-family B (MDR/TAP), member 9; TAP-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23457); (R-HSA-382556)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10484077;10665657;10748049;11011155;11237011;11504826;11562789;11812794;11829140;12379217;12379510;12403779;12604685;1352877;1356264;1359686;13679046;1377674;14661924;15175422;15302935;15472518;15491607;15577206;15863492;15899824;16816140;16901789;17523162;17855752;17894550;17897319;17977821;18175933;18282684;18434309;18952056;19002207;19447222;19570978;1968359;19862647;1998343;20377823;20583968;20621639;21212514;22178883;22641697;23063411;23481700;24019521;24685677;2475911;25133187;25645385;25646430;2570070;26208431;26992070;28132103;28832583;28834231;2898143;29557506;30315122;30353140;30877195;31217245;31417173;31844290;31848261;32157095;32938616;32981041;33968037;33981976;34211107;3457471;3472246;34932366;35051231;35289036;35318648;7523390;7529176;7553863;7553864;7865904;9652413;9816258;9831708", "class_list": "", "function": "ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen for degradation (PubMed:15863492, PubMed:17977821, PubMed:18434309, PubMed:22641697, PubMed:25646430, PubMed:30353140, PubMed:30877195, PubMed:31417173). Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides with an optimum of 23-mers (PubMed:15863492, PubMed:25646430). Binds and transports smaller and larger peptides with the same affinity (PubMed:31417173). Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal positions whereas negatively charged residues as well as asparagine and methionine are not favored (PubMed:15863492, PubMed:17977821, PubMed:18434309)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; By dissecting ABCB9, distinct functions were assigned to the core complex and the extra N-terminal transmembrane domain., [RefSeq, PubMed]; Results expand our knowledge about lysosomal trafficking of TAPL and the general function of extra transmembrane domains of ABC transporters, [RefSeq, PubMed]; The TMD0 of TAPL was expressed via a cell-free expression system and confirmed its correct folding by NMR and interaction studies. 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 as well as antigen presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities. [provided by RefSeq, Jul 2011]., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4E2J0;Q5W9G7;Q769F3;Q769F4;Q96AB1;Q9P208", "ec_number_list": [ { "id": "7.4.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:7.4.2.6", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0022857 transmembrane transporter activity;GO:0042803 protein homodimerization activity;GO:0016887 ATP hydrolysis activity;GO:0015421 ABC-type oligopeptide transporter activity", "go_cellular_component": "GO:0016020 membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0015031 protein transport;GO:0055085 transmembrane transport;GO:0006518 peptide metabolic process;GO:0015833 peptide transport", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9NP78-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15372-1", "uniprot_id": [ { "id": "EIF3H_HUMAN", "url": "https://www.uniprot.org/uniprot/O15372", "type": "external" } ], "mass": 39930.0, "length": 352, "protein_name": "Eukaryotic translation initiation factor 3 subunit H", "gene_name": "EIF3H", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 3 subunit H", "refseq_ac": [ { "id": "NP_003747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747", "type": "external" } ], "gene_names_uniprotkb": "EIF3H; EIF3S3", "gene_names_refseq": "EIF3H; EIF3S3; eIF3-gamma; eIF3-p40", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 3 subunit H; Eukaryotic translation initiation factor 3 subunit 3; eIF-3-gamma; eIF3 p40 subunit; eIF3h", "protein_names_refseq": "eIF-3-gamma; eIF3 p40 subunit; eukaryotic translation initiation factor 3 subunit 3; eukaryotic translation initiation factor 3 subunit H; eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD); eukaryotic translation initiation factor 3, subunit 3 (gamma, 40kD); eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); myocardial infarction (Disease Ontology:DOID:5844); chronic kidney disease (Disease Ontology:DOID:784); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:8667); (R-HSA-156827); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706)", "pathway_count": 7, "publication_count": 133, "publication_id_list": "10364207;10659855;1095581;11018020;1104615;11237011;11733359;12493757;12588972;14567916;15118850;15703437;16286006;16322461;16766523;17322306;17322308;17581632;17924679;18446792;18544531;1856230;18599441;18691976;18767875;19651622;20068067;20068230;20068231;22424782;23186163;24366607;24397554;24714562;24715725;25418920;25505266;25576301;25849773;25880248;26100019;26154972;26375851;26992070;27397612;27462815;27846572;27862975;28352266;28510447;28904123;29351928;29437277;29493099;29557506;29786170;30315122;30410026;30484775;30620550;30833945;31154438;31217245;31222486;31373491;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34405274;34509645;34561969;34725712;34932366;35051231;35138101;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36350008;36581221;37527660;37559097;37938771;38514606;38665916;40307207;40596516;40914422;429297;592398;592399;641056;6853548;6901506;7000367;8943342;9045610;9341143;9732867;9857202", "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, UniProtKB]; EIF3H stabilizes CCND1 to promotes intrahepatic cholangiocarcinoma progression via Wnt/beta-catenin signaling., [RefSeq, PubMed]; Gain of EIF3S3 was associated with poor cancer-specific survival in incidentally found prostate carcinomas., [RefSeq, PubMed]; Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer., [RefSeq, PubMed]; The EIF3H-HAX1 axis increases RAF-MEK-ERK signaling activity to promote colorectal cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; The deubiquitinase EIF3H promotes hepatocellular carcinoma progression by stabilizing OGT and inhibiting ferroptosis. 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, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008237 metallopeptidase activity;GO:0003743 translation initiation factor activity;GO:0140492 metal-dependent deubiquitinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0016282 eukaryotic 43S preinitiation complex;GO:0033290 eukaryotic 48S preinitiation complex", "go_biological_process": "GO:0006413 translational initiation;GO:0006446 regulation of translational initiation;GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0001732 formation of cytoplasmic translation initiation complex", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "O15372-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q09428-1", "uniprot_id": [ { "id": "ABCC8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q09428", "type": "external" } ], "mass": 176992.0, "length": 1581, "protein_name": "ATP-binding cassette sub-family C member 8", "gene_name": "ABCC8", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family C member 8 isoform 2", "refseq_ac": [ { "id": "NP_000343", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000343", "type": "external" } ], "gene_names_uniprotkb": "ABCC8; HRINS; SUR1; SUR", "gene_names_refseq": "ABC36; ABCC8; HHF1; HI; HRINS; MODY12; MRP8; PHHI; PNDM3; SUR1delta2; SUR1; SUR; TNDM2", "protein_names_uniprotkb": "ATP-binding cassette sub-family C member 8; Sulfonylurea receptor 1", "protein_names_refseq": "ATP-binding cassette sub-family C member 8 isoform 2; ATP-binding cassette transporter sub-family C member 8; ATP-binding cassette, sub-family C (CFTR/MRP), member 8; sulfonylurea receptor (hyperinsulinemia); sulfonylurea receptor 1", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); cardiac arrest (Disease Ontology:DOID:0060319); transient neonatal diabetes mellitus (Disease Ontology:DOID:0060334); permanent neonatal diabetes mellitus (Disease Ontology:DOID:0060639); transient neonatal diabetes mellitus 2 (Disease Ontology:DOID:0061174); familial hyperinsulinemic hypoglycemia 3 (Disease Ontology:DOID:0070216); familial hyperinsulinemic hypoglycemia 1 (Disease Ontology:DOID:0070219); Parkinsonism (Disease Ontology:DOID:0080855); leucine-sensitive hypoglycemia of infancy (Disease Ontology:DOID:0112262); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); hyperinsulinemic hypoglycemia (Disease Ontology:DOID:13317); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); hyperinsulinism (Disease Ontology:DOID:2018); middle cerebral artery infarction (Disease Ontology:DOID:3525); brain edema (Disease Ontology:DOID:4724); type 2 diabetes mellitus (Disease Ontology:DOID:9352); hypoglycemia (Disease Ontology:DOID:9993); diabetes mellitus, permanent neonatal 3 (MONDO:MONDO:0030088); maturity-onset diabetes of the young, type 12 (MONDO:MONDO:0978299)", "pathway": " (hsa:6833); (R-HSA-1296025); (R-HSA-422356); (R-HSA-5683177)", "pathway_count": 4, "publication_count": 141, "publication_id_list": "10.1101/2023.09.13.557529;10194514;10202168;10204114;10206966;10334322;10338089;10342826;10424882;10447255;10506167;10526167;10615958;10773014;10866047;10868950;11018078;11078440;11078469;11226335;11237011;11264248;11577798;11716850;11780755;11815450;11815460;11815462;11815463;11867634;11873862;11994306;12196472;12200636;12364426;12403834;12475777;12684222;12764427;12887316;12941782;1309948;13459201;14514350;15000528;15305887;15356046;15504896;15562009;15572341;15579781;15585596;15678092;15807877;16332676;16357843;16429405;16443778;16513675;16556766;16613899;16714477;16868246;16885549;17021801;17213273;17259518;17380317;17660294;17668386;17900700;17919183;18162464;18258787;18346985;18596924;19587354;20086079;20092027;21671119;21738553;21989597;23992284;24814349;24843477;25645385;25720052;25892735;26517901;28832583;29108130;29242379;29286281;29393594;29557506;30078552;30192525;31067468;31844290;32928873;33141586;33392160;34014594;34087483;34815345;35051231;3517644;35494241;36010968;38411150;38489043;38791571;3923453;6019353;6424440;6435940;7589840;7593639;7641683;7716548;7847376;7929812;8027028;8457197;8635661;8650576;8675920;8751851;8923011;8987985;8997178;9350615;9519757;9568693;9618169;9648840;9726229;9739505;9751501;9769320;9914469", "class_list": "", "function": "An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population., [RefSeq, PubMed]; Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability. Publication Status: Online-Only, [RefSeq, PubMed]; Dynamic duo: Kir6 and SUR in KATP channel structure and function. Review article, [RefSeq, PubMed]; Regulator subunit of pancreatic ATP-sensitive potassium channel (KATP), playing a major role in the regulation of insulin release. In pancreatic cells, it forms KATP channels with KCNJ11; KCNJ11 forms the channel pore while ABCC8 is required for activation and regulation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The 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 MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 21, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NMX8;E3UYX6;O75948;Q16583", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0043531 ADP binding;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0008282 inward rectifying potassium channel;GO:0030672 synaptic vesicle membrane;GO:0042383 sarcolemma;GO:0042734 presynaptic membrane", "go_biological_process": "GO:0007613 memory;GO:0008542 visual learning;GO:0010043 response to zinc ion;GO:0032496 response to lipopolysaccharide;GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "Q09428-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UH17-1", "uniprot_id": [ { "id": "ABC3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UH17", "type": "external" } ], "mass": 45924.0, "length": 382, "protein_name": "DNA dC->dU-editing enzyme APOBEC-3B", "gene_name": "APOBEC3B", "organism": "Human", "refseq_name": "DNA dC->dU-editing enzyme APOBEC-3B isoform b", "refseq_ac": [ { "id": "NP_001257340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257340", "type": "external" } ], "gene_names_uniprotkb": "APOBEC3B", "gene_names_refseq": "A3B; APOBEC1L; APOBEC3B; ARCD3; ARP4; DJ742C19.2; PHRBNL; bK150C2.2", "protein_names_uniprotkb": "DNA dC->dU-editing enzyme APOBEC-3B; 3.5.4.38; A3B; Phorbolin-1-related protein; Phorbolin-2/3", "protein_names_refseq": "DNA dC->dU-editing enzyme APOBEC-3B isoform b; apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B; cytidine deaminase; phorbolin 2; phorbolin 3; phorbolin-1-related protein; phorbolin-2/3; probable DNA dC->dU-editing enzyme APOBEC-3B", "tax_id": 9606, "disease": "", "pathway": " (hsa:9582); (R-HSA-72200); (R-HSA-75094)", "pathway_count": 3, "publication_count": 107, "publication_id_list": "10469298;11237011;11718896;11863358;12683974;12859895;15466872;15659357;16060832;16527742;16699599;17020885;17447845;18304004;18448976;18477386;18667511;20062055;20308164;21835787;22001110;22424782;22457529;22544926;22898188;22912627;22915799;23475216;23481700;24366607;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26811146;26992070;27600516;27846572;27893789;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30484775;30524438;31165764;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;35051231;35083852;35154160;35561310;35580925;36010968;36215666;36241641;36581221;37938771;38049664;38105291;38499553;38827321;39197402;41337590;8208612", "class_list": "", "function": "DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA. Exhibits antiviral activity against simian immunodeficiency virus (SIV), hepatitis B virus (HBV) and human T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Detailed sequence and population genetic analysis of a 29.5-kb common human deletion polymorphism that removes the APOBEC3B gene. GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Distinguishing preferences of human APOBEC3A and APOBEC3B for cytosines in hairpin loops, and reflection of these preferences in APOBEC-signature cancer genome mutations. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic alteration of mRNA editing enzyme APOBEC3B in the pathogenesis of ovarian endometriosis., [RefSeq, PubMed]; New insights into ATR inhibition in muscle invasive bladder cancer: The role of apolipoprotein B mRNA editing catalytic subunit 3B. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory variants of APOBEC3 genes potentially associate with COVID-19 severity in populations with African ancestry. Publication Status: Online-Only, [RefSeq, PubMed]; The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance., [RefSeq, PubMed]; This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 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, "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": 0, "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": "B0QYD2;O95618;Q20WL1;Q5IFJ4;Q7Z2N3;Q7Z6D6;Q9UE74", "ec_number_list": [ { "id": "3.5.4.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.38", "type": "external" }, { "id": "3.5.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.-", "type": "external" }, { "id": "3.5.4.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.36", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0004126 cytidine deaminase activity;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000932 P-body", "go_biological_process": "GO:0016554 cytidine to uridine editing;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0070383 DNA cytosine deamination;GO:0045869 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q9UH17-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11233-1", "uniprot_id": [ { "id": "RALA_HUMAN", "url": "https://www.uniprot.org/uniprot/P11233", "type": "external" } ], "mass": 23567.0, "length": 206, "protein_name": "Ras-related protein Ral-A", "gene_name": "RALA", "organism": "Human", "refseq_name": "ras-related protein Ral-A precursor", "refseq_ac": [ { "id": "NP_005393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005393", "type": "external" } ], "gene_names_uniprotkb": "RALA; RAL", "gene_names_refseq": "HINCONS; RALA; RAL", "protein_names_uniprotkb": "Ras-related protein Ral-A; 3.6.5.2", "protein_names_refseq": "RALA Ras like proto-oncogene A; RAS-like protein A; Ras family small GTP binding protein RALA; Ras-related protein Ral-A; ras related GTP binding protein A; ras-related protein Ral-A precursor; v-ral simian leukemia viral oncogene homolog A (ras related)", "tax_id": 9606, "disease": "pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); Hiatt-Neu-Cooper neurodevelopmental syndrome (MONDO:MONDO:0859142)", "pathway": " (hsa:5898); (R-HSA-1445148); (R-HSA-171007); (R-HSA-8950505)", "pathway_count": 4, "publication_count": 91, "publication_id_list": "10747847;11237011;14525976;15637052;15809419;15919790;15920473;15971998;16038020;16177825;16213214;16880201;17369524;17377532;17540176;17875936;17995453;18756269;19013499;1903399;19252894;19306925;19901077;20005108;20631154;20701589;20837646;20937701;21454505;21454690;21822277;21907143;23481700;24222664;25502872;2550440;2662142;27452731;27600516;27862975;28228285;28467828;28832583;28904123;29242379;29314611;29493099;29508533;30070631;30315122;30484775;30500825;30626607;30761613;30995277;31611695;31844290;32157095;32161166;32350084;32357974;32488085;32502341;32938616;32983136;33043033;33298915;33912179;33936100;33968037;34357683;34767674;34944458;35051231;35154160;35251023;35580925;36010968;36241641;36284347;36817861;37116704;38286821;38665916;39894887;7673236;7972015;8094051;8664345;8846784;8858106", "class_list": "", "function": "Dysregulation of RalA signaling through dual regulatory mechanisms exerts its oncogenic functions in hepatocellular carcinoma., [RefSeq, PubMed]; Identification of RALA as a Therapeutic Target and Prognostic Predictor of Osteosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors (PubMed:18756269, PubMed:19306925, PubMed:20005108, PubMed:21822277, PubMed:30500825). Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles. The RALA-exocyst complex regulates integrin-dependent membrane raft exocytosis and growth signaling (PubMed:20005108). Key regulator of LPAR1 signaling and competes with GRK2 for binding to LPAR1 thus affecting the signaling properties of the receptor. Required for anchorage-independent proliferation of transformed cells (PubMed:19306925). During mitosis, supports the stabilization and elongation of the intracellular bridge between dividing cells. Cooperates with EXOC2 to recruit other components of the exocyst to the early midbody (PubMed:18756269). During mitosis, also controls mitochondrial fission by recruiting to the mitochondrion RALBP1, which mediates the phosphorylation and activation of DNM1L by the mitotic kinase cyclin B-CDK1 (PubMed:21822277)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Obesity causes mitochondrial fragmentation and dysfunction in white adipocytes due to RalA activation., [RefSeq, PubMed]; Ral GTPase promotes metastasis of pancreatic ductal adenocarcinoma via elevation of TGF-beta1 production., [RefSeq, PubMed]; RalA, PLD and mTORC1 Are Required for Kinase-Independent Pathways in DGKbeta-Induced Neurite Outgrowth. Publication Status: Online-Only, [RefSeq, PubMed]; The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [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, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "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": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D1W3", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "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.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0051117 ATPase binding;GO:0031625 ubiquitin protein ligase binding;GO:0017022 myosin binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051665 membrane raft localization;GO:0006935 chemotaxis;GO:0007165 signal transduction;GO:0031623 receptor internalization;GO:0032956 regulation of actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P11233-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9H4-1", "uniprot_id": [ { "id": "VP37B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9H4", "type": "external" } ], "mass": 31307.0, "length": 285, "protein_name": "Vacuolar protein sorting-associated protein 37B", "gene_name": "VPS37B", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 37B", "refseq_ac": [ { "id": "NP_078943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078943", "type": "external" } ], "gene_names_uniprotkb": "VPS37B", "gene_names_refseq": "VPS37B", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 37B; ESCRT-I complex subunit VPS37B; hVps37B", "protein_names_refseq": "ESCRT-I complex subunit VPS37B; VPS37B, ESCRT-I subunit; hVps37B; vacuolar protein sorting 37 homolog B; vacuolar protein sorting 37B; vacuolar protein sorting-associated protein 37B", "tax_id": 9606, "disease": "", "pathway": " (hsa:79720); (R-HSA-162588); (R-HSA-174490); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710)", "pathway_count": 6, "publication_count": 68, "publication_id_list": "10.1101/2023.09.13.557529;11112487;11237011;11527981;11563910;12663786;14624836;15075231;15218037;15473846;15509564;15613341;16371348;16775314;16973552;17853893;18005716;19129479;19527882;19640981;21238931;21289126;21757351;2204156;22405001;22762019;23266279;23301498;23305486;23481700;24129315;25576301;25892735;25961502;26154972;26992070;2799391;28228285;28832583;28834231;29242379;29557506;29769354;29786170;29789417;30315122;31092671;31844290;32350084;32488085;32502341;32938616;32983136;33392160;33592498;33968037;33981976;34185709;35051231;35251023;35580925;36010968;36241641;36284347;37217939;37938771;9506952;9525617", "class_list": "", "function": "Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "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": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0048306 calcium-dependent protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0031902 late endosome membrane", "go_biological_process": "GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex;GO:0043328 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;GO:1903774 positive regulation of viral budding via host ESCRT complex;GO:0006612 protein targeting to membrane", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9H9H4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQL6-1", "uniprot_id": [ { "id": "HDAC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQL6", "type": "external" } ], "mass": 121978.0, "length": 1122, "protein_name": "Histone deacetylase 5", "gene_name": "HDAC5", "organism": "Human", "refseq_name": "histone deacetylase 5 isoform 3", "refseq_ac": [ { "id": "NP_001015053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015053", "type": "external" } ], "gene_names_uniprotkb": "HDAC5; KIAA0600", "gene_names_refseq": "HD5; HDAC5; NY-CO-9", "protein_names_uniprotkb": "Histone deacetylase 5; 3.5.1.98; Antigen NY-CO-9; HD5", "protein_names_refseq": "antigen NY-CO-9; histone deacetylase 5 isoform 3", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596); transient cerebral ischemia (Disease Ontology:DOID:224); acute kidney failure (Disease Ontology:DOID:3021); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary hypertension (Disease Ontology:DOID:6432); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:10014); (R-HSA-2122947); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-350054); (R-HSA-8943724); (R-HSA-9976102)", "pathway_count": 7, "publication_count": 203, "publication_id_list": "10206645;10220385;10713164;10879540;10882063;10898795;10964718;11006133;11018260;11044625;11081517;11112321;11114197;11237011;11378386;11461910;11509672;11545734;11585921;11740940;11781575;11959846;12050117;12058061;12209127;12354787;12354939;12374742;12391150;12504096;12530964;14980219;15107403;15367659;15546612;15546868;15574878;15760269;15824097;15829515;16093323;16256737;16418168;16530044;16530045;16584705;16676006;16702404;16738328;16751179;17003037;17114293;17157496;17373667;17401372;17468767;17646408;17646409;17872950;17873065;17974977;18043734;18077452;18094723;18172008;18184930;18292392;18296446;18332134;18374649;18391013;18487508;18824583;18824585;19151708;19440552;19524514;19608861;19666599;19726682;19884659;20188095;20233713;20516213;20716686;20972443;21081666;21146494;21289308;21892142;21998325;22128185;22360269;22424782;22645359;22649097;22865920;22869377;23186163;23287862;23481700;24029068;24413532;24714562;24715725;24718924;24841198;24920159;25418920;25576301;25645385;25728608;25752541;25880248;26061431;26154972;26375851;26728094;26768311;26811146;26910647;26992070;27667720;27759007;27846572;27862975;28167758;28218747;28832583;28834231;28904123;29242379;29339432;29393594;29437277;29493099;29508533;29557506;29632046;29632711;30315122;30410026;30429286;30524438;30779550;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34171305;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36257380;36263180;36284347;37742129;37938771;38173411;38999998;39659899;7566092;7588063;8001118;8649374;8687460;9244301;9315665;9462510;9604939;9610721;9620803;9651681;9694793;9819428", "class_list": "", "function": "HDAC5-mediated Smad7 silencing through MEF2A is critical for fibroblast activation and hypertrophic scar formation. Publication Status: Online-Only, [RefSeq, PubMed]; Histone Trimethylations and HDAC5 Regulate Spheroid Subpopulation and Differentiation Signaling of Human Adipose-Derived Stem Cells., [RefSeq, PubMed]; Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; In vitro, it deacetylates lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:10220385). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Serves as a corepressor of RARA and causes its deacetylation (PubMed:28167758). In association with RARA, plays a role in the repression of microRNA-10a and thereby in the inflammatory response (PubMed:28167758)., [UniProtKB, PubMed, PubMed, PubMed]; METTL3-mediated N6-methyladenosine modification and HDAC5/YY1 promote IFFO1 downregulation in tumor development and chemo-resistance., [RefSeq, PubMed]; NFYB increases chemosensitivity in glioblastoma by promoting HDAC5-mediated transcriptional inhibition of SHMT2., [RefSeq, PubMed]; Role of HDAC5 Epigenetics in Chronic Craniofacial Neuropathic Pain. Review article Publication Status: Online-Only, [RefSeq, 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": 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": 30, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "C9JFV9;O60340;O60528;Q96DY4", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "1.14.99.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.66", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.5.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.48", "type": "external" }, { "id": "3.5.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.62", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0042826 histone deacetylase binding;GO:0005080 protein kinase C binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0010830 regulation of myotube differentiation;GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 20.6, "record_id": "Q9UQL6-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15831-1", "uniprot_id": [ { "id": "STK11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15831", "type": "external" } ], "mass": 48636.0, "length": 433, "protein_name": "Serine/threonine-protein kinase STK11", "gene_name": "STK11", "organism": "Human", "refseq_name": "serine/threonine-protein kinase STK11 isoform 1", "refseq_ac": [ { "id": "NP_000446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000446", "type": "external" } ], "gene_names_uniprotkb": "STK11; LKB1; PJS", "gene_names_refseq": "LKB1; PJS; STK11; hLKB1", "protein_names_uniprotkb": "Serine/threonine-protein kinase STK11; 2.7.11.1; LKB1; Liver kinase B1; Renal carcinoma antigen NY-REN-19; hLKB1", "protein_names_refseq": "liver kinase B1; polarization-related protein LKB1; renal carcinoma antigen NY-REN-19; serine/threonine-protein kinase 11; serine/threonine-protein kinase LKB1; serine/threonine-protein kinase STK11 isoform 1; serine/threonine-protein kinase STK11", "tax_id": 9606, "disease": "endometrial cancer (Disease Ontology:DOID:1380); pancreatic cancer (Disease Ontology:DOID:1793); breast carcinoma (Disease Ontology:DOID:3459); cervical mucinous adenocarcinoma (Disease Ontology:DOID:3701); Peutz-Jeghers syndrome (Disease Ontology:DOID:3852); ovarian carcinoma (Disease Ontology:DOID:4001); testicular germ cell cancer (Disease Ontology:DOID:5557); familial melanoma (Disease Ontology:DOID:6846); hyperthyroidism (Disease Ontology:DOID:7998); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6794); (R-HSA-163680); (R-HSA-380972); (R-HSA-6804756); (R-HSA-9614657)", "pathway_count": 5, "publication_count": 173, "publication_id_list": "10079245;10102273;10201537;10208439;10408777;10429654;10435622;10500146;10508479;10570149;10604467;10642527;10673500;10673501;10698692;10710310;10884347;11018120;11212897;11237011;11239457;11297520;11430832;11447225;11511362;11546806;11551930;11668633;11740489;11741830;11777915;11780126;11853558;12064478;12097271;12234250;12372054;12393879;12533684;12552571;12702766;12802337;12805220;12851404;12878598;12914926;14511394;14517248;14576824;14614828;14701673;14702041;14976552;14985505;15016379;15021901;15053879;15509806;15579580;15733851;15866171;15987703;16322561;16407220;16943194;16943287;17108107;17216128;17344846;17349958;17384680;17591690;17676035;17711506;17875968;18158893;18250273;18321849;18439900;18490454;18594528;18687677;18854309;19121998;19414597;19664994;19892943;19965871;20058876;20142099;20559149;20959462;20978166;21317932;21380642;21396365;21411391;21487392;22412893;22460425;22564745;22575644;22848421;22983157;23000554;23186163;23485397;23572524;23577667;23592276;23612973;23676219;23707940;24145406;24715725;24874608;25005758;25329316;25384047;25505266;25846811;26068970;26578976;26715362;26893937;27226623;27494711;27561725;27705915;28708087;28882949;28903364;29533771;29914450;30833748;30833945;31519760;31554794;31844290;32157095;32350084;32387766;32488085;32502341;32938616;33141586;33219302;33592498;33912179;33968037;34171305;34193159;34357683;34509645;35051231;36010968;38844063;39080663;39113608;39146185;8549768;8779952;9425897;9428765;9537235;9605748;9683800;9731485;9760200;9809980;9837816;9887330;9925639", "class_list": "", "function": "Genetic variation at a splicing branch point in intron 7 of STK11: a rare variant decreasing its expression in a Chinese family with Peutz-Jeghers syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Has a role in spermiogenesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; LKB1 inhibits telomerase activity resulting in cellular senescence through histone lactylation in lung adenocarcinoma., [RefSeq, PubMed]; Loss of STK11 Suppresses Lipid Metabolism and Attenuates KRAS-Induced Immunogenicity in Patients with Non-Small Cell Lung Cancer., [RefSeq, PubMed]; TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis upon LKB1 inactivation., [RefSeq, PubMed]; The protein encoded by this gene is a serine/threonine kinase that regulates cell polarity and energy metabolism and functions as a tumor suppressor. Mutations in this gene have been associated with the autosomal dominant Peutz-Jeghers syndrome, as well as with skin, pancreatic, and testicular cancers. [provided by RefSeq, May 2022]., [RefSeq]; Tumor suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage response (PubMed:12805220, PubMed:14517248, PubMed:14976552, PubMed:15016379, PubMed:15733851). Acts by phosphorylating the T-loop of AMPK family proteins, thus promoting their activity: phosphorylates PRKAA1, PRKAA2, BRSK1, BRSK2, MARK1, MARK2, MARK3, MARK4, NUAK1, NUAK2, SIK1, SIK2, SIK3 and SNRK but not MELK (PubMed:12805220, PubMed:14517248, PubMed:14976552, PubMed:15016379, PubMed:15733851). Also phosphorylates non-AMPK family proteins such as STRADA, PTEN and possibly p53/TP53 (PubMed:11430832, PubMed:15987703). Acts as a key upstream regulator of AMPK by mediating phosphorylation and activation of AMPK catalytic subunits PRKAA1 and PRKAA2 and thereby regulates processes including: inhibition of signaling pathways that promote cell growth and proliferation when energy levels are low, glucose homeostasis in liver, activation of autophagy when cells undergo nutrient deprivation, and B-cell differentiation in the germinal center in response to DNA damage (PubMed:14976552). Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton (PubMed:15016379). Required for cortical neuron polarization by mediating phosphorylation and activation of BRSK1 and BRSK2, leading to axon initiation and specification (PubMed:14976552). Involved in DNA damage response: interacts with p53/TP53 and recruited to the CDKN1A/WAF1 promoter to participate in transcription activation (PubMed:11430832, PubMed:17108107, PubMed:21317932). Able to phosphorylate p53/TP53; the relevance of such result in vivo is however unclear and phosphorylation may be indirect and mediated by downstream STK11/LKB1 kinase NUAK1 (PubMed:11430832, PubMed:17108107, PubMed:21317932). Also acts as a mediator of p53/TP53-dependent apoptosis via interaction with p53/TP53: translocates to the mitochondrion during apoptosis and regulates p53/TP53-dependent apoptosis pathways (PubMed:11430832, PubMed:17108107, PubMed:21317932). Regulates UV radiation-induced DNA damage response mediated by CDKN1A (PubMed:25329316). In association with NUAK1, phosphorylates CDKN1A in response to UV radiation and contributes to its degradation which is necessary for optimal DNA repair (PubMed:25329316)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 34, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBX7;E7EW76", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0030295 protein kinase activator activity;GO:0002039 p53 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0071493 cellular response to UV-B;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007283 spermatogenesis;GO:0007409 axonogenesis", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "Q15831-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P33121-1", "uniprot_id": [ { "id": "ACSL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P33121", "type": "external" } ], "mass": 77943.0, "length": 698, "protein_name": "Long-chain-fatty-acid--CoA ligase 1", "gene_name": "ACSL1", "organism": "Human", "refseq_name": "long-chain-fatty-acid--CoA ligase 1 isoform a", "refseq_ac": [ { "id": "NP_001273637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273637", "type": "external" } ], "gene_names_uniprotkb": "ACSL1; FACL1; FACL2; LACS1; LACS2; LACS", "gene_names_refseq": "ACS1; ACSL1; FACL1; FACL2; LACS1; LACS2; LACS", "protein_names_uniprotkb": "Long-chain-fatty-acid--CoA ligase 1; 6.2.1.15; 6.2.1.24; 6.2.1.3; ACS1; Acyl-CoA synthetase 1; Arachidonate--CoA ligase; LACS 1; LACS 2; Long-chain acyl-CoA synthetase 1; Long-chain acyl-CoA synthetase 2; Long-chain fatty acid-CoA ligase 2; Palmitoyl-CoA ligase 1; Palmitoyl-CoA ligase 2; Phytanate--CoA ligase", "protein_names_refseq": "LACS 1; LACS 2; arachidonate--CoA ligase; fatty-acid-Coenzyme A ligase, long-chain 1; fatty-acid-Coenzyme A ligase, long-chain 2; lignoceroyl-CoA synthase; long-chain acyl-CoA synthetase 1; long-chain acyl-CoA synthetase 2; long-chain fatty acid-CoA ligase 2; long-chain fatty-acid-coenzyme A ligase 1; long-chain-fatty-acid--CoA ligase 1 isoform a; long-chain-fatty-acid--CoA ligase 1; palmitoyl-CoA ligase 1; palmitoyl-CoA ligase 2; paltimoyl-CoA ligase 1; phytanate--CoA ligase", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); alcohol dependence (Disease Ontology:DOID:0050741); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2180); (R-HSA-1989781); (R-HSA-2046105); (R-HSA-2046106); (R-HSA-75876); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 183, "publication_id_list": "10.1101/2023.09.13.557529;10425206;10548543;10558993;10601301;10769175;10777541;10835357;10882139;10899997;10954726;10970790;11027271;11237011;11267664;11500517;11734571;11889465;11988075;12118000;12177166;12323085;12323090;12371743;12482854;12505311;12525535;12562861;12582161;12713571;12716664;12829629;12897190;12975357;1310260;1346092;14636670;15067378;15130092;15469937;15635043;16036915;1607358;16371355;16380219;16972786;17379924;17681178;17761950;17762044;18003621;1834642;18538142;18540824;18554506;18719978;18728184;18848529;19043829;19056654;19088433;19172745;19505953;19710929;19826053;19934321;20058876;20068231;20110263;20937905;21242590;21959040;22633490;23481700;23555621;24196956;24269233;24275569;24714562;24715725;25418920;25505266;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26811146;26929215;26992070;27397612;27452731;27600516;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28649982;28832583;28904123;29242379;29331515;29393594;29437277;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30429286;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33123756;33141586;33298915;33329381;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34185709;34357683;34932366;35051231;35154160;35318648;35580925;36010968;36241641;36284347;36581221;38016515;38040804;38245444;38253038;38420815;39134684;40914422;5411545;7061494;7685352;7892212;8075637;8096621;8521497;8521498;8584017;8609415;8647822;8656081;8832760;9012850;9065481;9171241;9684854;9704073;9732298;9744270;9748239", "class_list": "", "function": "ACSL1-Mediated Fatty Acid beta-Oxidation Enhances Metastasis and Proliferation in Endometrial Cancer., [RefSeq, PubMed]; ACSL1: A preliminary study that provides a new target for the treatment of renal fibrosis could bring new insights in diabetic kidney disease., [RefSeq, PubMed]; Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:21242590, PubMed:22633490, PubMed:24269233). Preferentially uses palmitoleate, oleate and linoleate (PubMed:24269233). Preferentially activates arachidonate than epoxyeicosatrienoic acids (EETs) or hydroxyeicosatrienoic acids (HETEs) (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Fatty acids and inflammatory stimuli induce expression of long-chain acyl-CoA synthetase 1 to promote lipid remodeling in diabetic kidney disease., [RefSeq, PubMed]; RBM45 reprograms lipid metabolism promoting hepatocellular carcinoma via Rictor and ACSL1/ACSL4., [RefSeq, PubMed]; The PRMT6/STAT1/ACSL1 axis promotes ferroptosis in diabetic nephropathy., [RefSeq, PubMed]; The protein encoded by this gene is an isozyme of the 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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 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": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B7Z452;D3DP57;P41215;Q8N8V7;Q8TA99", "ec_number_list": [ { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "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": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "6.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.2", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "6.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.25", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "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" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0047676 arachidonate-CoA ligase activity;GO:0043539 protein serine/threonine kinase activator activity;GO:0050197 phytanate-CoA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005778 peroxisomal membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0000038 very long-chain fatty acid metabolic process;GO:0001676 long-chain fatty acid metabolic process;GO:0007584 response to nutrient;GO:0008610 lipid biosynthetic process;GO:0034201 response to oleic acid", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "P33121-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3Q8-1", "uniprot_id": [ { "id": "T22D4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3Q8", "type": "external" } ], "mass": 41026.0, "length": 395, "protein_name": "TSC22 domain family protein 4", "gene_name": "TSC22D4", "organism": "Human", "refseq_name": "TSC22 domain family protein 4 isoform a", "refseq_ac": [ { "id": "NP_001289972", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289972", "type": "external" } ], "gene_names_uniprotkb": "TSC22D4; THG1-PIT; THG1", "gene_names_refseq": "THG-1; THG1; TILZ2; TSC22D4", "protein_names_uniprotkb": "TSC22 domain family protein 4; TSC22-related-inducible leucine zipper protein 2", "protein_names_refseq": "TSC22 domain family protein 4 isoform a; TSC22 domain family protein 4; TSC22-related-inducible leucine zipper protein 2; tsc-22-like protein THG-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81628)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10488076;11237011;16959974;17322306;18088087;18452278;18669648;18691976;19651622;19664994;19690332;20058876;20068231;21448135;22510880;23186163;23307490;23481700;24275569;26992070;27600516;27827363;28228285;28832583;28834231;29242379;29493099;29557506;30379171;31154438;31217245;31844290;31848261;32157095;32357974;32387766;32983136;33968037;34509645;34932366;35051231;35378329;35494241;35580925;35714570;36010968;37607779;40914422", "class_list": "", "function": "Binds DNA and acts as a transcriptional repressor (PubMed:10488076). Involved in the regulation of systematic glucose homeostasis and insulin sensitivity, via transcriptional repression of downstream insulin signaling targets such as OBP2A/LCN13 (By similarity). Acts as a negative regulator of lipogenic gene expression in hepatocytes and thereby mediates the control of very low-density lipoprotein release (PubMed:23307490). May play a role in neurite elongation and survival (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Hepatocyte-specific activity of TSC22D4 triggers progressive NAFLD by impairing mitochondrial function., [RefSeq, PubMed]; Promotion of squamous cell carcinoma tumorigenesis by oncogene-mediated THG-1/TSC22D4 phosphorylation., [RefSeq, PubMed]; TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[supplied by OMIM, Mar 2008]., [RefSeq]; TSC22D4 promotes TGFbeta1-induced activation of hepatic stellate cells., [RefSeq, 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, "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": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "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": "A4D2C3;A8MWR6;D6W5V9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0030425 dendrite;GO:0045202 synapse", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006970 response to osmotic stress;GO:0070050 neuron cellular homeostasis;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9Y3Q8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93062-1", "uniprot_id": [ { "id": "RBPMS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93062", "type": "external" } ], "mass": 21802.0, "length": 196, "protein_name": "RNA-binding protein with multiple splicing", "gene_name": "RBPMS", "organism": "Human", "refseq_name": "RNA-binding protein with multiple splicing isoform A", "refseq_ac": [ { "id": "NP_001008710", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008710", "type": "external" } ], "gene_names_uniprotkb": "RBPMS; HERMES", "gene_names_refseq": "HERMES; RBPMS", "protein_names_uniprotkb": "RNA-binding protein with multiple splicing; Heart and RRM expressed sequence; Hermes; RBP-MS; RBPMS", "protein_names_refseq": "RNA binding protein with multiple splicing; RNA-binding protein with multiple splicing isoform A; heart and RRM expressed sequence", "tax_id": 9606, "disease": "", "pathway": " (hsa:11030)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;14759258;17074750;17099224;18669648;20112406;22028470;24860013;25576301;26347403;26992070;27397612;27862975;28832583;29242379;29393594;29485866;29557506;29786170;31154438;31844290;31848261;32157095;32161166;32488085;32938616;33592498;34171305;35051231;35318648;35580925;36241641;36284347;36989351;37548402;37890031;37938771;38195842;38665916;8855282", "class_list": "", "function": "Acts as a regulator of pre-mRNA alternative splicing (AS) (By similarity). Binds mRNA (PubMed:17099224). Regulates AS of ACTN1, FLNB, although with lower efficiency than isoform A / RBPMSA (By similarity). Acts as coactivator of SMAD transcriptional activity in a TGFB1-dependent manner, possibly through increased phosphorylation of SMAD2 and SMAD3 at the C-terminal SSXS regions and promotion of the nuclear accumulation of SMAD proteins (PubMed:17099224)., [UniProtKB, PubMed, UniProtKB]; Cell-type specific regulator RBPMS switches alternative splicing via higher-order oligomerization and heterotypic interactions with other splicing regulators., [RefSeq, PubMed]; MRNA translational specialization by RBPMS presets the competence for cardiac commitment in hESCs., [RefSeq, PubMed]; RBPMS regulates cardiomyocyte contraction and cardiac function through RNA alternative splicing., [RefSeq, PubMed]; RNA binding protein that mediates the regulation of pre-mRNA alternative splicing (AS) (PubMed:24860013, PubMed:26347403). Acts either as activator (FLNB, HSPG2, LIPA1, MYOCD, PTPRF and PPFIBP1) or repressor (TPM1, ACTN1, ITGA7, PIEZO1, LSM14B, MBNL1 and MBML2) of splicing events on specific pre-mRNA targets (By similarity). Together with RNA binding proteins RBFOX2 and MBNL1/2, activates a splicing program associated with differentiated contractile vascular smooth muscle cells (SMC) by regulating AS of numerous pre-mRNA involved in actin cytoskeleton and focal adhesion machineries, suggesting a role in promoting a cell differentiated state (By similarity). Binds to introns, exons and 3'-UTR associated with tandem CAC trinucleotide motifs separated by a variable spacer region, at a minimum as a dimer. The minimal length of RNA required for RBPMS-binding tandem CAC motifs is 15 nt, with spacing ranging from 1 to 9 nt. Can also bind to CA dinucleotide repeats (PubMed:24860013, PubMed:26347403). Mediates repression of TPM1 exon 3 by binding to CAC tandem repeats in the flanking intronic regions, followed by higher-order oligomerization and heterotypic interactions with other splicing regulators including MBNL1 and RBFOX2, which prevents assembly of ATP-dependent splicing complexes (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; SH3RF2 contributes to cisplatin resistance in ovarian cancer cells by promoting RBPMS degradation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]., [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": 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": 7, "reported_glycation": 0, "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": "D3DSU9;Q92516;Q92517;Q92518;Q96J26", "ec_number_list": [], "go_molecular_function": "GO:0097157 pre-mRNA intronic binding;GO:0060090 molecular adaptor activity;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006396 RNA processing;GO:0006979 response to oxidative stress;GO:0060395 SMAD protein signal transduction;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q93062-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14757-1", "uniprot_id": [ { "id": "CHK1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14757", "type": "external" } ], "mass": 54434.0, "length": 476, "protein_name": "Serine/threonine-protein kinase Chk1", "gene_name": "CHEK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Chk1 isoform 1", "refseq_ac": [ { "id": "NP_001107593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107593", "type": "external" } ], "gene_names_uniprotkb": "CHEK1; CHK1", "gene_names_refseq": "CHEK1; CHK1; OZEMA21", "protein_names_uniprotkb": "Serine/threonine-protein kinase Chk1; 2.7.11.1; CHK1 checkpoint homolog; Cell cycle checkpoint kinase; Checkpoint kinase-1", "protein_names_refseq": "CHK1 checkpoint homolog; Checkpoint, S. pombe, homolog of, 1; Chk1-S; cell cycle checkpoint kinase; serine/threonine-protein kinase Chk1 isoform 1; serine/threonine-protein kinase Chk1", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793); oocyte/zygote/embryo maturation arrest 21 (MONDO:MONDO:0957961)", "pathway": " (hsa:1111); (R-HSA-1433557); (R-HSA-176187); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6796648); (R-HSA-6804756); (R-HSA-69473); (R-HSA-69601); (R-HSA-75035); (R-HSA-8953750)", "pathway_count": 11, "publication_count": 640, "publication_id_list": 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"class_list": "", "function": "Biochemical studies suggest the functional interactions of this protein with cell cycle regulators. Cdc25A, Cdc25B, and Cdc25C can be phosphoryalted by this protein., [RefSeq, PubMed]; Endogenous repressor of isoform 1, interacts with, and antagonizes CHK1 to promote the S to G2/M phase transition., [UniProtKB, PubMed]; In silico and structure-based evaluation of deleterious mutations identified in human Chk1, Chk2, and Wee1 protein kinase., [RefSeq, PubMed]; OTUB1 Targets CHK1 for Deubiquitination and Stabilization to Facilitate Lung Cancer Progression and Radioresistance., [RefSeq, PubMed]; Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest and activation of DNA repair in response to the presence of DNA damage or unreplicated DNA (PubMed:11535615, PubMed:12399544, PubMed:12446774, PubMed:14559997, PubMed:14988723, PubMed:15311285, PubMed:15650047, PubMed:15665856, PubMed:32357935). May also negatively regulate cell cycle progression during unperturbed cell cycles (PubMed:11535615, PubMed:12399544, PubMed:12446774, PubMed:14559997, PubMed:14988723, PubMed:15311285, PubMed:15650047, PubMed:15665856). This regulation is achieved by a number of mechanisms that together help to preserve the integrity of the genome (PubMed:11535615, PubMed:12399544, PubMed:12446774, PubMed:14559997, PubMed:14988723, PubMed:15311285, PubMed:15650047, PubMed:15665856). Recognizes the substrate consensus sequence [R-X-X-S/T] (PubMed:11535615, PubMed:12399544, PubMed:12446774, PubMed:14559997, PubMed:14988723, PubMed:15311285, PubMed:15650047, PubMed:15665856). Binds to and phosphorylates CDC25A, CDC25B and CDC25C (PubMed:12676583, PubMed:12676925, PubMed:12759351, PubMed:14559997, PubMed:14681206, PubMed:19734889, PubMed:9278511). Phosphorylation of CDC25A at 'Ser-178' and 'Thr-507' and phosphorylation of CDC25C at 'Ser-216' creates binding sites for 14-3-3 proteins which inhibit CDC25A and CDC25C (PubMed:9278511). Phosphorylation of CDC25A at 'Ser-76', 'Ser-124', 'Ser-178', 'Ser-279' and 'Ser-293' promotes proteolysis of CDC25A (PubMed:12676583, PubMed:12676925, PubMed:12759351, PubMed:14681206, PubMed:19734889, PubMed:9278511). Phosphorylation of CDC25A at 'Ser-76' primes the protein for subsequent phosphorylation at 'Ser-79', 'Ser-82' and 'Ser-88' by NEK11, which is required for polyubiquitination and degradation of CDCD25A (PubMed:19734889, PubMed:20090422, PubMed:9278511). Inhibition of CDC25 leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression (PubMed:9278511). Also phosphorylates NEK6 (PubMed:18728393). Binds to and phosphorylates RAD51 at 'Thr-309', which promotes the release of RAD51 from BRCA2 and enhances the association of RAD51 with chromatin, thereby promoting DNA repair by homologous recombination (PubMed:15665856). Phosphorylates multiple sites within the C-terminus of TP53, which promotes activation of TP53 by acetylation and promotes cell cycle arrest and suppression of cellular proliferation (PubMed:10673501, PubMed:15659650, PubMed:16511572). Also promotes repair of DNA cross-links through phosphorylation of FANCE (PubMed:17296736). Binds to and phosphorylates TLK1 at 'Ser-743', which prevents the TLK1-dependent phosphorylation of the chromatin assembly factor ASF1A (PubMed:12660173, PubMed:12955071). This may enhance chromatin assembly both in the presence or absence of DNA damage (PubMed:12660173, PubMed:12955071). May also play a role in replication fork maintenance through regulation of PCNA (PubMed:18451105). May regulate the transcription of genes that regulate cell-cycle progression through the phosphorylation of histones (By similarity). Phosphorylates histone H3.1 (to form H3T11ph), which leads to epigenetic inhibition of a subset of genes (By similarity). May also phosphorylate RB1 to promote its interaction with the E2F family of transcription factors and subsequent cell cycle arrest (PubMed:17380128). Phosphorylates SPRTN, promoting SPRTN recruitment to chromatin (PubMed:31316063). Reduces replication stress and activates the G2/M checkpoint, by phosphorylating and inactivating PABIR1/FAM122A and promoting the serine/threonine-protein phosphatase 2A-mediated dephosphorylation and stabilization of WEE1 levels and activity (PubMed:33108758)., [UniProtKB, PubMed, 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]; Spatial organization and functions of Chk1 activation by TopBP1 biomolecular condensates., [RefSeq, PubMed]; The luciferase-based in vivo protein-protein interaction assay revealed that CHK1 promotes PP2A and PME-1 interaction., [RefSeq, PubMed]; The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]., [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": 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": 32, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K934;B4DDD0;B4DSK3;B5BTY6;F5H7S4;H2BI51", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "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": "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": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "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" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" } ], "go_molecular_function": "GO:0035402 histone H3T11 kinase activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0046602 regulation of mitotic centrosome separation;GO:0006281 DNA repair;GO:0006338 chromatin remodeling;GO:0006468 protein phosphorylation;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 64.3, "record_id": "O14757-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YF9-1", "uniprot_id": [ { "id": "DZIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YF9", "type": "external" } ], "mass": 98664.0, "length": 867, "protein_name": "Cilium assembly protein DZIP1", "gene_name": "DZIP1", "organism": "Human", "refseq_name": "cilium assembly protein DZIP1 isoform 1", "refseq_ac": [ { "id": "NP_055749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055749", "type": "external" } ], "gene_names_uniprotkb": "DZIP1; DZIP2; DZIP; KIAA0996", "gene_names_refseq": "DZIP1; DZIPt1; DZIP; MMVP3; MVP3; SPGF47", "protein_names_uniprotkb": "Cilium assembly protein DZIP1; DAZ-interacting protein 1/2; DAZ-interacting zinc finger protein 1", "protein_names_refseq": "DAZ interacting protein testis1; DAZ-interacting protein 1/2; cilium assembly protein DZIP1 isoform 1; cilium assembly protein DZIP1; zinc finger DAZ interacting protein 1; zinc finger protein DZIP1; zinc-finger protein DZIPt1", "tax_id": 9606, "disease": "spermatogenic failure 47 (Disease Ontology:DOID:0112175); coloboma (Disease Ontology:DOID:12270); mitral valve prolapse (Disease Ontology:DOID:988)", "pathway": " (hsa:22873); (R-HSA-5632684)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10433824;10564661;10966113;11027307;11960000;12050670;12068298;12123571;12138125;12426310;12511597;14528312;14611647;15081113;15115751;15198976;15300262;16061793;16136078;16155214;16421275;16459297;16459298;16611981;16651542;16740475;16980583;17115028;17442700;17641202;18455992;18497258;18827223;18832070;19305393;19368795;19371734;19533801;19549984;19592253;19622347;19666503;19684112;19818708;19852954;19878745;19955409;19996169;20014402;20016067;20154143;20360384;20460306;20487519;20512148;20643644;20818436;20844016;20889716;20956384;21695114;21801010;21878643;22007132;22391301;22982193;23332756;23481700;23719536;23725801;23955340;24072710;24302888;24582806;24845016;24854174;24925320;25576301;25860027;27600516;27979967;28085539;29557506;30620550;31118289;31844290;32051257;32157095;32387766;32938616;33592498;33968037;33981976;34509645;35051231;37217939;9601642;9874371", "class_list": "", "function": "Centrosome protein Dzip1 mediates the assembly of the BBSome-Dzip1-PCM1 complex in the centriolar satellites (CS) at the G0 phase for ciliary translocation of the BBSome. Phosphorylation of Dzip1 at Ser-210 by Plk1 (polo-like kinase 1) during the G2 phase promotes disassembly of this complex, resulting in removal of Dzip1 and the BBSome from the CS., [RefSeq, PubMed]; DZIP may associate with DAZ and its other cofactors in an RNA-binding protein complex that functions in both ES cells and germ cells GeneRIF: gene expression profiling [DZIP], [RefSeq, PubMed]; Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF., [RefSeq, PubMed]; In conclusion, we identified two genes, DZIP1 and XYLT1, potentially associated with nonsyndromic high myopia using whole exome sequencing and subsequent mutation screening analysis., [RefSeq, PubMed]; Molecular adapter that recruits protein complexes required for cilium assembly and function to the cilium basal body (PubMed:19852954, PubMed:23955340, PubMed:27979967, PubMed:32051257). At the exit of mitosis, localizes to the basal body and ciliary base of the forming primary cilium where it recruits and activates RAB8A to direct vesicle-mediated transport of proteins to the cilium (By similarity). Also recruits the BBSome, a complex involved in cilium biogenesis, by bridging it to PCM1 at the centriolar satellites of the cilium (PubMed:27979967). It is also required for the recruitment to the cilium basal body of the intraflagellar transport (IFT) machinery as well as the ciliary appendage proteins CEP164 and NINEIN (By similarity). Functions as a regulator of Hedgehog signaling both through its role in cilium assembly but also probably through its ability to retain GLI3 within the cytoplasm (By similarity). It is involved in spermatogenesis through its role in organization of the basal body and assembly of the sperm flagellum (PubMed:32051257). Also indirectly involved in heart development through its function in ciliogenesis (PubMed:31118289)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Reversible phosphorylation of Dzip1, which is controlled by the antagonistic action of CK2 and B56-containing PP2As, has an important impact on the stability of Gli transcription factors and Hh signaling., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5W078;Q5W079;Q8WY45;Q8WY46;Q9UGA5;Q9Y2K0", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0008270 zinc ion binding;GO:0140311 protein sequestering activity;GO:0062063 BBSome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007507 heart development;GO:0060271 cilium assembly;GO:0007281 germ cell development;GO:1903566 positive regulation of protein localization to cilium", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q86YF9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08151-1", "uniprot_id": [ { "id": "GLI1_HUMAN", "url": "https://www.uniprot.org/uniprot/P08151", "type": "external" } ], "mass": 117904.0, "length": 1106, "protein_name": "Transcription activator GLI1", "gene_name": "GLI1", "organism": "Human", "refseq_name": "zinc finger protein GLI1 isoform 2", "refseq_ac": [ { "id": "NP_001153517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153517", "type": "external" } ], "gene_names_uniprotkb": "GLI1; GLI", "gene_names_refseq": "GLI1; GLI; PAPA8; PPD1", "protein_names_uniprotkb": "Transcription activator GLI1; Glioma-associated oncogene; Oncogene GLI", "protein_names_refseq": "GLI-Kruppel family member GLI1; glioma-associated oncogene 1; glioma-associated oncogene homolog 1 (zinc finger protein); oncogene GLI; zinc finger protein GLI1 isoform 2", "tax_id": 9606, "disease": "primary bacterial infectious disease (Disease Ontology:DOID:0050338); pre-malignant neoplasm (Disease Ontology:DOID:0060071); preaxial polydactyly I (Disease Ontology:DOID:0060987); spina bifida (Disease Ontology:DOID:0080016); multiple sclerosis (Disease Ontology:DOID:2377); nevoid basal cell carcinoma syndrome (Disease Ontology:DOID:2512); gallbladder cancer (Disease Ontology:DOID:3121); gastric papillary adenocarcinoma (Disease Ontology:DOID:5593); gastric tubular adenocarcinoma (Disease Ontology:DOID:6595); colorectal cancer (Disease Ontology:DOID:9256); ocular hypertension (Disease Ontology:DOID:9282); polydactyly, postaxial, type A8 (MONDO:MONDO:0029130)", "pathway": " (hsa:2735); (R-HSA-5610780); (R-HSA-5610787); (R-HSA-5632684); (R-HSA-5635851)", "pathway_count": 5, "publication_count": 168, "publication_id_list": "10075717;10433824;10559945;10564661;10806483;10951255;10966113;11027307;11237011;11238441;11375483;11960000;12050670;12068298;12123571;12138125;12192414;12361967;12426310;12435627;14528312;14603322;14611647;14723851;15087129;15115751;15198976;15300262;15930098;16061793;16136078;16155214;16229832;16254602;16311594;16339192;16396903;16421275;16459297;16459298;16493421;16611981;16651542;16705181;16707575;16740475;16959974;16980583;17027958;17115028;17200122;17283082;17442700;17553904;17641202;17762891;17960137;18327258;18455992;18497258;18827223;18832070;19000668;19056373;19196978;19223390;19286674;19305393;19365551;19368795;19371734;19533801;19549984;19592253;19622347;19666503;19684112;19706761;19767740;19776033;19818708;19852954;19877275;19878745;19906846;19948480;19955409;19996169;20014402;20016067;20067783;20081843;20154143;20207148;20360384;20395968;20412786;20460306;20487519;20512148;20643644;20818436;20844016;20865152;20889716;20956384;2105456;21209331;21695114;21801010;21878643;21921029;22007132;22231273;22391300;22391301;22439934;22982193;23209152;23332756;23446420;23481700;23719536;23725801;23955340;24072710;24076122;24217340;24302888;24311597;24339784;24582806;24661902;24845016;24854174;24863049;24917297;24925320;24952464;26190112;26843621;26992070;2832761;28562331;28735864;28965847;28973407;30379171;30389910;30420690;30620395;31154438;31844290;31848261;32157095;32387766;33912179;35051231;35831023;37217939;38307877;38621503;38676765;39062853;39090759;8378770;9601642;9874371", "class_list": "", "function": "Acts as a transcriptional activator, but activates a different set of genes than isoform 1 (PubMed:19706761). Activates expression of CD24, unlike isoform 1 (PubMed:19706761)., [UniProtKB, PubMed]; GLI1 Coamplification in Well-Differentiated/Dedifferentiated Liposarcomas: Clinicopathologic and Molecular Analysis of 92 Cases., [RefSeq, PubMed]; GLI1 polymorphisms influence remission rate and prognosis of young de novo acute myeloid leukemia patients treated with cytarabine-based chemotherapy., [RefSeq, PubMed]; Phosphorylation of human glioma-associated oncogene 1 on Ser937 regulates Sonic Hedgehog signaling in medulloblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; The Combined Immunohistochemical Expression of GLI1 and BCOR in Synovial Sarcomas for the Identification of Three Risk Groups and Their Prognostic Outcomes: A Study of 52 Patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]., [RefSeq]; Transcription activator that acts as a key effector of the smoothened signaling pathway, and which plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract (PubMed:10806483, PubMed:11238441, PubMed:19706761, PubMed:19878745, PubMed:24076122, PubMed:24217340, PubMed:24311597, PubMed:28973407). Binds to the DNA consensus sequence 5'-GACCACCCA-3' (PubMed:2105456, PubMed:24217340, PubMed:2832761, PubMed:8378770). Activated in response to smoothened signaling: in presence of hedgehog (DHH, IHH or SHH) and subsequent activation of smoothened, GLI1 translocates to the nucleus and promotes expression of target genes (PubMed:2105456). In contrast to GLI2 and GLI3, does not contain a repressor domain and only acts as a transcription activator (PubMed:10075717)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Tumor-derived GLI1 promotes remodeling of the immune tumor microenvironment in melanoma. Publication Status: Online-Only, [RefSeq, 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": 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": 12, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D0EUY3;E9PQQ9;F5H6H8;Q8TDN9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008017 microtubule binding;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005930 axoneme", "go_biological_process": "GO:0045880 positive regulation of smoothened signaling pathway;GO:0009913 epidermal cell differentiation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "P08151-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N954-1", "uniprot_id": [ { "id": "GPT11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N954", "type": "external" } ], "mass": 33277.0, "length": 285, "protein_name": "G patch domain-containing protein 11", "gene_name": "GPATCH11", "organism": "Human", "refseq_name": "G patch domain-containing protein 11 isoform 2", "refseq_ac": [ { "id": "NP_001265434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265434", "type": "external" } ], "gene_names_uniprotkb": "GPATCH11; CCDC75", "gene_names_refseq": "CCDC75; CENP-Y; CENPY; GPATCH11", "protein_names_uniprotkb": "G patch domain-containing protein 11; CENP-Y; Centromeric protein Y; Coiled-coil domain-containing protein 75", "protein_names_refseq": "G patch domain-containing protein 11 isoform 2; centromere protein Y; centromeric protein Y; coiled-coil domain containing 75; coiled-coil domain-containing protein 75; g patch domain-containing protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:253635)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;19608861;20813266;21048031;23186163;23481700;25645385;26992070;28218747;29437277;29557506;29632046;30315122;31154438;31844290;32157095;32387766;32488085;32938616;33141586;33592498;33936100;33968037;34087483;34171305;34509645;34561969;35051231;36010968;36241641;36580660", "class_list": "", "function": "Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, 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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "A0A0A0MSF9;A8K0D9;B7Z2G4;B8ZZ44", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0000776 kinetochore;GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8N954-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBZ0-1", "uniprot_id": [ { "id": "IN80E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBZ0", "type": "external" } ], "mass": 26478.0, "length": 244, "protein_name": "INO80 complex subunit E", "gene_name": "INO80E", "organism": "Human", "refseq_name": "INO80 complex subunit E isoform 2", "refseq_ac": [ { "id": "NP_001291491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291491", "type": "external" } ], "gene_names_uniprotkb": "INO80E; CCDC95", "gene_names_refseq": "CCDC95; INO80E", "protein_names_uniprotkb": "INO80 complex subunit E; Coiled-coil domain-containing protein 95", "protein_names_refseq": "INO80 complex subunit E isoform 2; coiled-coil domain containing 95; coiled-coil domain-containing protein 95", "tax_id": 9606, "disease": "", "pathway": " (hsa:283899); (R-HSA-5689603); (R-HSA-5696394)", "pathway_count": 3, "publication_count": 77, "publication_id_list": "10391953;11237011;11279143;12732143;12815074;12944386;14742321;15811629;15882621;15964821;16223728;16230350;16473935;16678110;16906146;17139257;17882165;18497827;18922472;19109893;19188440;19609301;19815555;20436459;20805357;20855601;21135142;21303910;21388382;22118460;23045548;23319653;24714562;24715725;2530630;25576301;26154972;26992070;27862975;28832583;28904123;29242379;29557506;29632711;30315122;30429286;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34078123;34087483;34433824;35051231;35580925;36010968;36581221;8168482;9528852;9790970", "class_list": "", "function": "Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair., [UniProtKB]", "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": 2, "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": "Q6Y2K3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0031011 Ino80 complex", "go_biological_process": "GO:0060382 regulation of DNA strand elongation;GO:0033044 regulation of chromosome organization;GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q8NBZ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02156-1", "uniprot_id": [ { "id": "KPCE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02156", "type": "external" } ], "mass": 83674.0, "length": 737, "protein_name": "Protein kinase C epsilon type", "gene_name": "PRKCE", "organism": "Human", "refseq_name": "protein kinase C epsilon type", "refseq_ac": [ { "id": "NP_005391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005391", "type": "external" } ], "gene_names_uniprotkb": "PRKCE; PKCE", "gene_names_refseq": "PKCE; PRKCE; nPKC-epsilon", "protein_names_uniprotkb": "Protein kinase C epsilon type; 2.7.11.13; nPKC-epsilon", "protein_names_refseq": "protein kinase C epsilon type", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); alcohol use disorder (Disease Ontology:DOID:1574); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5581); (R-HSA-114508); (R-HSA-1250196); (R-HSA-1489509); (R-HSA-2029485); (R-HSA-418597)", "pathway_count": 6, "publication_count": 115, "publication_id_list": "10224668;10579907;10945988;10954748;11062054;11080611;11237011;11313909;11413485;11425868;11432829;11749377;11805119;11884385;11964154;12052829;12120503;12473185;12640464;12660731;12869549;1347957;1374067;1382605;15161916;15294978;15355962;15536084;15632189;15809313;15886222;15951850;16497229;16584980;16678913;16757566;16810323;16923326;16959974;17091491;17344846;17590538;17603037;17875639;17875724;18237277;18408015;18434541;18458086;18510355;18577758;18604201;18637120;18637121;18669648;18691976;18721752;19033211;19168130;1939224;19512879;19542546;19662078;19664994;20350291;20353823;21376233;21681677;2175712;21806543;21810427;23186163;23846654;26154972;28063628;28502923;28832583;29242379;29393594;29557506;29632046;31844290;32157095;32265295;32897882;32938616;33912179;33981976;34171305;35051231;35561310;35580925;36010968;36040231;36241641;37336366;37501577;37833790;38656553;7517665;7559455;7595566;7929214;7937899;8036006;8101647;8228618;8530511;8617750;8657103;8665853;9232641;9601053;9930701;9973503", "class_list": "", "function": "Apolipoprotein E epsilon4 triggers neurotoxicity via cholesterol accumulation, acetylcholine dyshomeostasis, and PKCepsilon mislocalization in cholinergic neuronal cells., [RefSeq, PubMed]; Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin-dependent signaling, by mediating angiotensin-2-induced activation of integrin beta-1 (ITGB1) in cardiac fibroblasts. Phosphorylates MARCKS, which phosphorylates and activates PTK2/FAK, leading to the spread of cardiomyocytes. Involved in the control of the directional transport of ITGB1 in mesenchymal cells by phosphorylating vimentin (VIM), an intermediate filament (IF) protein. In epithelial cells, associates with and phosphorylates keratin-8 (KRT8), which induces targeting of desmoplakin at desmosomes and regulates cell-cell contact. Phosphorylates IQGAP1, which binds to CDC42, mediating epithelial cell-cell detachment prior to migration. In HeLa cells, contributes to hepatocyte growth factor (HGF)-induced cell migration, and in human corneal epithelial cells, plays a critical role in wound healing after activation by HGF. During cytokinesis, forms a complex with YWHAB, which is crucial for daughter cell separation, and facilitates abscission by a mechanism which may implicate the regulation of RHOA. In cardiac myocytes, regulates myofilament function and excitation coupling at the Z-lines, where it is indirectly associated with F-actin via interaction with COPB1. During endothelin-induced cardiomyocyte hypertrophy, mediates activation of PTK2/FAK, which is critical for cardiomyocyte survival and regulation of sarcomere length. Plays a role in the pathogenesis of dilated cardiomyopathy via persistent phosphorylation of troponin I (TNNI3). Involved in nerve growth factor (NFG)-induced neurite outgrowth and neuron morphological change independently of its kinase activity, by inhibition of RHOA pathway, activation of CDC42 and cytoskeletal rearrangement. May be involved in presynaptic facilitation by mediating phorbol ester-induced synaptic potentiation. Phosphorylates gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2), which reduces the response of GABA receptors to ethanol and benzodiazepines and may mediate acute tolerance to the intoxicating effects of ethanol. Upon PMA treatment, phosphorylates the capsaicin- and heat-activated cation channel TRPV1, which is required for bradykinin-induced sensitization of the heat response in nociceptive neurons. Is able to form a complex with PDLIM5 and N-type calcium channel, and may enhance channel activities and potentiates fast synaptic transmission by phosphorylating the pore-forming alpha subunit CACNA1B (CaV2.2). In prostate cancer cells, interacts with and phosphorylates STAT3, which increases DNA-binding and transcriptional activity of STAT3 and seems to be essential for prostate cancer cell invasion. Downstream of TLR4, plays an important role in the lipopolysaccharide (LPS)-induced immune response by phosphorylating and activating TICAM2/TRAM, which in turn activates the transcription factor IRF3 and subsequent cytokines production. In differentiating erythroid progenitors, is regulated by EPO and controls the protection against the TNFSF10/TRAIL-mediated apoptosis, via BCL2. May be involved in the regulation of the insulin-induced phosphorylation and activation of AKT1. Phosphorylates NLRP5/MATER and may thereby modulate AKT pathway activation in cumulus cells (PubMed:19542546). Phosphorylates and activates LRRK1, which phosphorylates RAB proteins involved in intracellular trafficking (PubMed:36040231)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cross talk of tumor protein D52 (TPD52) with KLF9, PKCepsilon, and MicroRNA 223 in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Effects of PKCepsilon knockdown on mitochondrial membrane potential of human glioma cells in vitro and growth of U251 cell-derived tumors in vivo., [RefSeq, PubMed]; Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq, Jul 2008]., [RefSeq]; The binding of PKCepsilon and MEG2 to STAT3 regulates IL-6-mediated microglial hyperalgesia during inflammatory pain., [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": 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, 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"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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004699 diacylglycerol-dependent, calcium-independent serine/threonine kinase activity;GO:0003785 actin monomer binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0035669 TRAM-dependent toll-like receptor 4 signaling pathway;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0032930 positive regulation of superoxide anion generation;GO:0032956 regulation of actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q02156-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14943-1", "uniprot_id": [ { "id": "KI3S1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14943", "type": "external" } ], "mass": 42475.0, "length": 382, "protein_name": "Killer cell immunoglobulin-like receptor 3DS1", "gene_name": "KIR3DS1", "organism": "Human", "refseq_name": "killer cell immunoglobulin-like receptor 3DS1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001077008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077008", "type": "external" } ], "gene_names_uniprotkb": "KIR3DS1; LOC112268355; NKAT10", "gene_names_refseq": "CD158E2; KIR-123FM; KIR-G1; KIR3DS1; NKAT-10; NKAT10", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 3DS1; NKAT-10; Natural killer-associated transcript 10", "protein_names_refseq": "killer cell immunoglobulin-like receptor 3DS1 isoform 1 precursor; killer cell immunoglobulin-like receptor 3DS1; killer cell immunoglobulin-like receptor KIR3DS1; killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1; natural killer-associated transcript 10", "tax_id": 9606, "disease": "Polyomavirus-associated nephropathy (Disease Ontology:DOID:0040086); lymphoproliferative syndrome (Disease Ontology:DOID:0060704); COVID-19 (Disease Ontology:DOID:0080600); human cytomegalovirus infection (Disease Ontology:DOID:0080827); dengue hemorrhagic fever (Disease Ontology:DOID:12206); malaria (Disease Ontology:DOID:12365); hepatitis C (Disease Ontology:DOID:1883); hepatitis B (Disease Ontology:DOID:2043); West Nile fever (Disease Ontology:DOID:2366); pulmonary tuberculosis (Disease Ontology:DOID:2957); tuberculosis (Disease Ontology:DOID:399); syphilis (Disease Ontology:DOID:4166); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic fatigue syndrome (Disease Ontology:DOID:8544)", "pathway": " (hsa:3813); (R-HSA-2172127)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10049942;10449773;10604985;10781084;10940905;11513141;11602640;12668644;12776204;14707061;15265913;15557162;15884055;15940674;16623599;16920917;16933987;17012248;17110943;17202323;17483134;17641029;18624290;18629938;19858347;20093094;20865034;20890284;23394822;27455421;28636952;33091337;34533978;35192601;37169313;37647275;38262874;8662091;9430221;9490415;9625766;9655483", "class_list": "", "function": "Activating KIR/HLA-I combinations as a risk factor of adult B-ALL., [RefSeq, PubMed]; Allele imputation for the killer cell immunoglobulin-like receptor KIR3DL1/S1. Publication Status: Online-Only, [RefSeq, PubMed]; Evaluation of KIR3DL1/KIR3DS1 allelic polymorphisms in Kenyan children with endemic Burkitt lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Expression profile of KIR3DS1/KIR3DL1 receptors in association with immunological responses in TB, HIV and HIV/TB infected patients., [RefSeq, PubMed]; KIR3DS1 directs NK cell-mediated protection against human adenovirus infections., [RefSeq, PubMed]; Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]., [RefSeq]; Receptor on natural killer (NK) cells for MHC class I molecules. Upon interaction with peptide-free HLA-F open conformer, triggers NK cell degranulation and anti-viral cytokine production., [UniProtKB, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "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": 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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 17, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0A0G2JNN4;Q5UCD2", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0032393 MHC class I receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0006955 immune response;GO:0030101 natural killer cell activation", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q14943-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15105-1", "uniprot_id": [ { "id": "SMAD7_HUMAN", "url": "https://www.uniprot.org/uniprot/O15105", "type": "external" } ], "mass": 46426.0, "length": 426, "protein_name": "SMAD family member 7", "gene_name": "SMAD7", "organism": "Human", "refseq_name": "SMAD family member 7 isoform 2", "refseq_ac": [ { "id": "NP_001177750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177750", "type": "external" } ], "gene_names_uniprotkb": "SMAD7; MADH7; MADH8", "gene_names_refseq": "CRCS3; MADH7; MADH8; SMAD7", "protein_names_uniprotkb": "SMAD family member 7; MAD homolog 7; MAD homolog 8; Mothers against DPP homolog 7; Mothers against DPP homolog 8; Mothers against decapentaplegic homolog 7; Mothers against decapentaplegic homolog 8; SMAD 7; hSMAD7", "protein_names_refseq": "MAD (mothers against decapentaplegic, Drosophila) homolog 7; MAD homolog 8; Mothers against decapentaplegic, drosophila, homolog of, 7; SMAD family member 7 isoform 2; SMAD, mothers against DPP homolog 7; hSMAD7; mothers against DPP homolog 8", "tax_id": 9606, "disease": "nephritis (Disease Ontology:DOID:10952); endometrial cancer (Disease Ontology:DOID:1380); pancreatic cancer (Disease Ontology:DOID:1793); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); liver cirrhosis (Disease Ontology:DOID:5082); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); colorectal cancer, susceptibility to, 3 (MONDO:MONDO:0012820)", "pathway": " (hsa:4092); (R-HSA-201451); (R-HSA-2173788); (R-HSA-2173795); (R-HSA-2173796); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-877300)", "pathway_count": 8, "publication_count": 235, "publication_id_list": "10022869;10067896;10197981;10199400;10444327;10458166;10485843;10519551;10531062;10535941;10549282;10587642;10587654;10647776;10708948;10708949;10712517;10757800;10982817;10986460;11007770;11013220;11016919;11121043;11158580;11163210;11237011;11274402;11278251;11278814;11389444;11424093;11427533;11483516;11509558;11566882;11571290;11714695;11779505;11923872;11972023;12023024;12040185;12150994;12151385;12408818;12438563;12446674;12519765;12592392;12821673;12857866;12915721;12917425;12917689;12917691;1396683;14586410;14657019;14661020;14701756;14718519;14722222;14993265;15053880;1508672;15100235;15143187;15150273;15322115;15388922;15496141;15530433;15781469;15820681;15916963;16027725;16061177;16156666;16214042;16237089;16278212;16319104;16467876;16601693;16641086;16672363;16751101;16751102;16901786;16906146;16964248;17029022;17068149;17125875;17139257;17290220;17311849;17327236;17356069;17438144;17443180;17510063;17591695;17592128;17873522;17934461;17980597;17981138;18172164;18362138;18467330;18497827;18568018;18591661;18632802;18636086;19015242;19135894;19188362;19188440;19363159;19398555;19424180;19758997;19815555;19838211;19874889;19910467;19914168;19917253;20049711;20061380;20096447;20129061;20130243;20228808;20304997;20363976;20368735;20436459;20501646;20595680;20659902;20805357;20937913;21095583;21239494;21362556;21571647;21596315;21659512;21791611;21849505;21962518;22029577;22045334;22085928;22128162;22216260;22275377;22344298;23061660;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24417533;24493797;24714562;24896179;25197364;25305019;2530630;25502872;25578727;27153775;28467828;29242379;29314611;29493099;29557506;29577978;30573663;31546607;31936902;32161166;32983136;33239784;33592498;33912179;34357683;34433824;35154160;38146644;38177245;38287200;38657333;39054719;7510216;7514165;7530745;7578059;7615558;7617032;7644468;7657660;7673114;7690989;7791754;7796299;8119126;8156998;8176225;8483949;8530158;8550631;8631301;8653785;8893010;9111318;9136927;9143706;9215638;9256479;9335507;9436979;9528852;9759503;9790970;9856985;9892009", "class_list": "", "function": "Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access (PubMed:21791611). Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Circular RNA circWNK1 inhibits the progression of gastric cancer via regulating the miR-21-3p/SMAD7 axis., [RefSeq, PubMed]; Knockdown of YAP1 Reduces YTHDF3 to Stabilize SMAD7 and thus Inhibit Bladder Cancer Stem Cell Stemness., [RefSeq, PubMed]; SMAD7 expression in CAR-T cells improves persistence and safety for solid tumors. Erratum:[Cell Mol Immunol. 2025 Oct;22(10):1282-1284. doi: 10.1038/s41423-025-01330-6. PMID: 40858800], [RefSeq, PubMed]; SMAD7 gene polymorphisms and their influence on patients with colorectal cancer., [RefSeq, PubMed]; The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]., [RefSeq]; UHRF1 inhibition mitigates vascular endothelial cell injury and ameliorates atherosclerosis in mice via regulating the SMAD7/YAP1 axis., [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": 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": 3, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z773;K7EQ10;O14740;Q6DK23", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0003714 transcription corepressor activity;GO:0031625 ubiquitin protein ligase binding;GO:0005518 collagen binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0071144 heteromeric SMAD protein complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0010717 regulation of epithelial to mesenchymal transition;GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization;GO:2000317 negative regulation of T-helper 17 type immune response;GO:0002725 negative regulation of T cell cytokine production;GO:2000320 negative regulation of T-helper 17 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 23.6, "record_id": "O15105-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96B97-1", "uniprot_id": [ { "id": "SH3K1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96B97", "type": "external" } ], "mass": 73126.0, "length": 665, "protein_name": "SH3 domain-containing kinase-binding protein 1", "gene_name": "SH3KBP1", "organism": "Human", "refseq_name": "SH3 domain-containing kinase-binding protein 1 isoform b", "refseq_ac": [ { "id": "NP_001019837", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019837", "type": "external" } ], "gene_names_uniprotkb": "SH3KBP1; CIN85", "gene_names_refseq": "AGMX2; CD2BP3; CIN85; GIG10; HSB-1; HSB1; IMD61; MIG18; SH3KBP1", "protein_names_uniprotkb": "SH3 domain-containing kinase-binding protein 1; CD2-binding protein 3; CD2BP3; Cbl-interacting protein of 85 kDa; HSB-1; Human Src family kinase-binding protein 1", "protein_names_refseq": "CD2-binding protein 3; SH3 domain-containing kinase-binding protein 1 isoform b; SH3-domain kinase binding protein 1; Src family kinase-binding protein 1; c-Cbl-interacting protein; cbl-interacting protein of 85 kDa; human Src family kinase-binding protein 1; migration-inducing gene 18; src-related kinase binding protein-1", "tax_id": 9606, "disease": "immunodeficiency 61 (Disease Ontology:DOID:0111999); nephrotic syndrome (Disease Ontology:DOID:1184); tauopathy (Disease Ontology:DOID:680)", "pathway": " (hsa:30011); (R-HSA-182971); (R-HSA-6807004); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8866376); (R-HSA-8875360); (R-HSA-9679191); (R-HSA-983695)", "pathway_count": 9, "publication_count": 443, "publication_id_list": "10.1101/2023.09.13.557529;10051622;10087012;10097102;10432293;10436022;10498607;10514377;10535736;10542231;10556826;10559856;10559861;10559924;10567358;10571241;10613896;10625686;10648173;10652316;10679202;10706702;10766823;10769163;10770799;1081164;10880360;10953014;10983984;10983987;11042164;11071869;11071885;11076969;11081636;11082044;11226282;11231140;11237011;11239472;11247302;11449366;11454741;11470803;11474197;11516654;11517213;11532990;11577110;11588219;11606584;11741535;11823423;11877457;11877461;11889126;11894095;11894096;11901194;11909947;11919637;11927540;11988742;12057195;12072436;12086608;12177062;12181444;12213833;12218189;12221107;12234920;12234931;12244174;12429842;12446734;12447393;12451172;12453414;12456653;12464600;12475979;12551915;12573241;12593795;12593796;12618476;12686592;12690097;12717448;12734385;12771190;12847086;12944396;12952949;12958364;1317852;1372019;1374290;1375264;1376928;14505571;14555962;14581451;14596919;14617351;14622578;14622579;14662753;14726597;14985334;15021893;15090612;15117950;15123609;15134832;15144186;15161916;15187135;15252009;15260957;15318165;15339664;1535555;15456872;15465819;15473838;15475003;15502812;15502813;1550550;15509800;15649145;15671180;15701692;15703209;15707590;15728179;15802264;15828871;15895077;15916959;15962011;1599430;16083285;16103228;16113677;16115318;16159959;16177060;16215232;16227611;16228008;16256071;16326391;16407834;16410077;16459302;16460808;16516836;16522641;16529723;16678097;16707488;16723738;16751601;16798879;16849466;16880396;16895919;16903783;16906149;17018281;1702903;17035995;1705565;17081983;17158794;17178829;17224452;17267500;17350651;17360967;17452328;17456551;17486119;17494869;17512409;17522231;17540576;17609109;17662939;17662961;17681954;17713526;17762867;17765681;17978091;18006696;18025150;18032517;18052078;18077418;18093523;18166656;18187424;18199683;18326500;18388313;18420269;18452278;1847920;18596693;18669648;18775314;18790740;18818202;18819912;18819921;18843204;18981233;18995841;19054389;19092055;19109251;19140243;19206206;19249086;19287005;19296720;19367720;19372136;19415658;19458185;19536138;19575674;19603039;19651622;19664994;1968060;19690332;19696796;19696798;19713939;19732400;19776351;19809571;19814798;19853559;19900460;20033059;20058876;20059951;20068231;2011584;20166139;20192804;20211604;20221403;20223979;20231386;20351096;20428113;20448150;20826345;20946875;21102408;2115402;21187331;21275903;21278753;21316588;21376233;21406692;21408196;21445324;21469132;21482805;21499258;21613550;21779028;21822214;21834987;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22180443;22210847;22233676;22357968;22401777;22484487;22505844;22552008;2257624;22814904;22815487;22863004;22942912;2303036;2304550;23052211;23186163;23208509;23297414;23506116;23536704;23641311;23823722;23861397;23891661;24130457;24186068;24272870;24275569;24366607;24384571;24581490;24584101;24680432;24715725;24746795;24789820;24828152;24966051;25107275;25263444;25303366;25341920;25418920;25576301;25801024;26002965;26042225;26154972;26375851;26403691;26829388;26992070;27846572;27920218;28063628;28228285;28425720;28657654;28832583;28904123;2890644;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29636373;29786170;29945920;30201761;30315122;30379171;30524438;31048504;31373491;31493651;31844290;32157095;32161166;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33627783;33936100;33968037;34171305;3417785;34357683;34561969;3500860;35051231;35494241;35580925;36010968;36284347;37074911;40596516;4589993;6146630;6335036;7524079;7528218;7538118;7541030;7542744;7569928;7592958;7657591;7687428;7687539;7688784;7691807;7822302;7877694;7927516;803528;8163536;8306975;8524399;8552632;8553074;8621719;8837779;8947047;9049633;9092476;9100026;9169477;9235916;9303539;9326643;9341187;9382888;9427626;9428629;9635431;9697839;9705962;9723620;9736607;9812899;9861036", "class_list": "", "function": "Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor, through an association with CBL and endophilins. The association with CBL, and thus the receptor internalization, may be inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activity by interaction with its regulatory subunit (By similarity). May be involved in regulation of cell adhesion; promotes the interaction between TTK2B and PDCD6IP. May be involved in the regulation of cellular stress response via the MAPK pathways through its interaction with MAP3K4. Is involved in modulation of tumor necrosis factor mediated apoptosis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Has an essential role in the stimulation of B cell activation (PubMed:29636373)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors Erratum:[Nature 2002 May 2;417(6884):102], [RefSeq, PubMed]; E3 ligase-inactivation rewires CBL interactome to elicit oncogenesis by hijacking RTK-CBL-CIN85 axis., [RefSeq, PubMed]; This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]., [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": 2, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 3, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1D5;Q5JPT4;Q5JPT5;Q8IWX6;Q8IX98;Q96RN4;Q9NYR0", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0030674 protein-macromolecule adaptor activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0006897 endocytosis;GO:0007015 actin filament organization;GO:0007267 cell-cell signaling;GO:0016477 cell migration;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 46.1, "record_id": "Q96B97-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13884-1", "uniprot_id": [ { "id": "SNTB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13884", "type": "external" } ], "mass": 58061.0, "length": 538, "protein_name": "Beta-1-syntrophin", "gene_name": "SNTB1", "organism": "Human", "refseq_name": "beta-1-syntrophin", "refseq_ac": [ { "id": "NP_066301", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066301", "type": "external" } ], "gene_names_uniprotkb": "SNTB1; SNT2B1", "gene_names_refseq": "59-DAP; A1B; BSYN2; DAPA1B; SNT2B1; SNT2; SNTB1; TIP-43", "protein_names_uniprotkb": "Beta-1-syntrophin; 59 kDa dystrophin-associated protein A1 basic component 1; BSYN2; DAPA1B; Syntrophin-2; TIP-43; Tax interaction protein 43", "protein_names_refseq": "59 kDa dystrophin-associated protein A1 basic component 1; beta-1-syntrophin; dystrophin-associated protein A1, 59kD, basic component 1; syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1); syntrophin-2; tax interaction protein 43", "tax_id": 9606, "disease": "Duchenne muscular dystrophy (Disease Ontology:DOID:11723); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:6641); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10022829;10189375;10441321;10545507;10893187;10932245;10942431;11237011;11352924;11430802;11495720;12189167;12665801;1319059;15175026;16524571;17322306;17905726;18088087;18578522;18707149;18764929;18767875;19346169;19664994;19690332;19946898;20044576;20058876;20068231;20166139;21406692;22159078;22223806;22869377;23481700;23783831;24275569;25645385;26154972;26992070;27543614;27600516;27862975;28832583;28834231;29242379;29493099;29557506;29632711;29786170;29789417;30397120;30429286;30524438;31154438;31217245;31844290;31848261;31998317;32157095;32387766;32488085;3282674;32897882;32938616;32983136;33141586;33392160;33968037;34087483;34509645;34932366;35051231;35318648;35580925;36284347;37592763;37890754;37938771;7527495;7547961;7592992;7844150;7925941;8043271;8183929;8268918;8349731;8576247;8607994;8627307;8798547;8845841;9214383;9405466;9412493;9482110;9652404;9864373", "class_list": "", "function": "Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex., [UniProtKB]; Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]., [RefSeq]; SNTB1 regulates colorectal cancer cell proliferation and metastasis through YAP1 and the WNT/beta-catenin pathway., [RefSeq, PubMed]; The SNTB1 and ZFHX1B gene have susceptibility in northern Han Chinese populations with high myopia., [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": 9, "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": "A8K9E0;O14912;Q4KMG8", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005516 calmodulin binding;GO:0005198 structural molecule activity;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0006936 muscle contraction;GO:0043010 camera-type eye development", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q13884-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14678-1", "uniprot_id": [ { "id": "ABCD4_HUMAN", "url": "https://www.uniprot.org/uniprot/O14678", "type": "external" } ], "mass": 68597.0, "length": 606, "protein_name": "Lysosomal cobalamin transporter ABCD4", "gene_name": "ABCD4", "organism": "Human", "refseq_name": "lysosomal cobalamin transporter ABCD4 isoform a", "refseq_ac": [ { "id": "NP_005041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005041", "type": "external" } ], "gene_names_uniprotkb": "ABCD4; PXMP1L", "gene_names_refseq": "ABC41; ABCD4; EST352188; MAHCJ; P70R; P79R; PMP69; PXMP1L", "protein_names_uniprotkb": "Lysosomal cobalamin transporter ABCD4; 7.6.2.8; ATP-binding cassette sub-family D member 4; P70R; PMP69; PMP70-related protein; PXMP1-L; Peroxisomal membrane protein 1-like; Peroxisomal membrane protein 69", "protein_names_refseq": "69 kDa peroxisomal ABC-transporter; ATP-binding cassette sub-family D member 4; ATP-binding cassette, sub-family D (ALD), member 4; PMP70-related protein; PXMP1-L; lysosomal cobalamin transporter ABCD4 isoform a; lysosomal cobalamin transporter ABCD4; peroxisomal membrane protein 69", "tax_id": 9606, "disease": "vitamin B12 deficiency (Disease Ontology:DOID:0050731); methylmalonic acidemia with homocystinuria, type cblJ (MONDO:MONDO:0013925)", "pathway": " (hsa:5826); (R-HSA-5683329); (R-HSA-9758881); (R-HSA-9758890)", "pathway_count": 4, "publication_count": 69, "publication_id_list": "10080186;10887099;11237011;12111378;12590260;14528014;14576052;15652495;16537422;17954916;17990953;18779389;19136951;20237569;20524213;21511966;22547309;22631584;22900303;22922874;23141461;23481700;23836931;23846701;25418920;25535791;25880248;26992070;27411955;27456980;2777761;28218747;28572511;28832583;28904123;29393594;29437277;29557506;29632046;29769354;30523278;30777892;31217245;31467407;31844290;31848261;32157095;32265295;32387766;32938616;33298915;33729671;33845046;33912179;33968037;34357683;34509645;36215666;36581221;3782074;4001945;759210;7768901;8706697;8710919;915005;9266848;9302272;9599016", "class_list": "", "function": "Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course., [RefSeq, PubMed]; Cryo-EM structure of human lysosomal cobalamin exporter ABCD4., [RefSeq, PubMed]; Lysosomal membrane protein that transports cobalamin (Vitamin B12) from the lysosomal lumen to the cytosol in an ATP-dependent manner (PubMed:22922874, PubMed:28572511, PubMed:31467407, PubMed:33845046). Targeted by LMBRD1 lysosomal chaperone from the endoplasmic reticulum to the lysosomal membrane (PubMed:27456980). Then forms a complex with lysosomal chaperone LMBRD1 and cytosolic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The 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 ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]., [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": 9, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5L7;Q6IAQ0;Q96E75", "ec_number_list": [ { "id": "7.6.2.8", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.8", "type": "external" } ], "go_molecular_function": "GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0042760 very long-chain fatty acid catabolic process;GO:0055085 transmembrane transport;GO:0007031 peroxisome organization;GO:0015910 long-chain fatty acid import into peroxisome", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "O14678-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63010-1", "uniprot_id": [ { "id": "AP2B1_HUMAN", "url": "https://www.uniprot.org/uniprot/P63010", "type": "external" } ], "mass": 104553.0, "length": 937, "protein_name": "AP-2 complex subunit beta", "gene_name": "AP2B1", "organism": "Human", "refseq_name": "AP-2 complex subunit beta isoform a", "refseq_ac": [ { "id": "NP_001025177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025177", "type": "external" } ], "gene_names_uniprotkb": "AP2B1; ADTB2; CLAPB1", "gene_names_refseq": "ADTB2; AP105B; AP2-BETA; AP2B1; CLAPB1", "protein_names_uniprotkb": "AP-2 complex subunit beta; AP105B; Adaptor protein complex AP-2 subunit beta; Adaptor-related protein complex 2 subunit beta; Beta-2-adaptin; Beta-adaptin; Clathrin assembly protein complex 2 beta large chain; Plasma membrane adaptor HA2/AP2 adaptin beta subunit", "protein_names_refseq": "AP-2 complex subunit beta isoform a; AP-2 complex subunit beta; adapter-related protein complex 2 beta subunit; adapter-related protein complex 2 subunit beta; adaptin, beta 2 (beta); adaptor protein complex AP-2 subunit beta; adaptor related protein complex 2 beta 1 subunit; adaptor-related protein complex 2 subunit beta; beta-2-adaptin; beta-adaptin; beta2-adaptin; clathrin assembly protein complex 2 beta large chain; clathrin-associated/assembly/adaptor protein, large, beta 1; plasma membrane adaptor HA2/AP2 adaptin beta subunit; testicular tissue protein Li 22", "tax_id": 9606, "disease": "middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:163); (R-HSA-167590); (R-HSA-177504); (R-HSA-182218); (R-HSA-2132295); (R-HSA-3928665); (R-HSA-437239); (R-HSA-5099900); (R-HSA-5140745); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8866427); (R-HSA-8964038); (R-HSA-9679191); (R-HSA-9918485)", "pathway_count": 15, "publication_count": 496, "publication_id_list": "10036229;10064083;10072072;10087012;10097102;10224102;10436022;10438503;10480952;10535736;10540230;10542231;10559856;10559861;10559924;10567358;10593899;10608864;10613896;10625686;10631941;10631952;10639150;10747093;10748235;10766823;10769163;10804209;10809954;10818153;10944104;10983987;11071885;11076969;11082044;11157096;11231140;11237011;11239472;11247302;11337487;11448999;11454741;11470803;11516654;11517213;11529500;11532990;11577110;11584272;11588219;11684289;11777907;11790530;11813165;11853874;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12078484;12082080;12086608;12198549;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12464675;12682107;12717448;12742663;12748383;12847086;12942088;12944396;12952949;12958364;12973357;1317852;14530274;14555962;14581451;14617351;14622578;14622579;14662753;14726597;14731593;14745134;14985334;15098107;15134832;15166224;15202998;15252009;15260957;15265030;15318165;15339664;15351694;1535555;15473838;15502812;15502813;15507651;15592455;15649145;15671180;15703209;15728179;15749704;15802264;15838506;15848800;15895077;15897975;15911768;15916959;16103193;16103228;16115318;16159959;16179341;16181339;16215232;16242130;16326391;16330023;16410077;16459302;16460808;16511561;16516836;16522641;16618111;16707488;16723738;16798879;16824007;16880396;16903783;17018281;17018531;17035995;17117926;17142755;17158794;1718995;17199046;17267500;17283181;17360967;17428795;17452316;17456551;17494869;17512409;17522231;17540576;17609109;17662961;17681954;17713526;17719203;17762867;17765681;17978091;18032517;18039658;18046453;18083107;18093523;18166656;18199683;18266465;18292509;18388313;18478542;1847920;18644789;18691976;18713744;18772377;18775314;18782767;18790740;18819912;18938240;18981233;19033387;19092055;19140243;19141679;19196236;19278660;19287005;19296720;19458185;19520913;19536138;19563754;1956401;19564404;19575674;19582886;19592704;19603039;19608861;1968060;1969413;19696796;19696798;19713939;19732400;19776351;19809571;19853559;19901323;19910923;20033059;20058876;20059951;20068231;2014052;20154091;20211604;20223979;20231386;20351096;20427281;20428113;20448150;20496116;20826345;20946875;20947020;20947831;21102408;21116285;2115402;21187331;2121367;21273557;21278753;21316588;21441454;21445324;21482805;21499258;21613550;21654843;21734303;21779028;21841790;21883765;2190094;21927000;21927001;21962517;21995445;22099461;22101459;22118466;221835;22233676;22357968;22401777;22424782;22484487;22505844;22510808;22552008;2257624;22764087;22814904;22815487;22863004;22869377;22936343;22942912;23084921;23186163;23297414;23301498;23536704;23641311;23658209;23676497;23823722;23861397;23891661;2391366;24074594;24130457;24186068;24272870;24366607;24384571;2448316;24581490;24584101;24680432;24714562;24746795;24789820;24868095;24966051;25107275;25303366;25341920;25418920;25576301;25645385;25699256;25801024;25915661;26002965;26042225;26056282;26154972;26212330;26403691;26468529;26474739;26768311;26829388;26992070;27022195;2722848;27452731;27600516;27726376;27832191;27846572;27862975;27920218;28218747;28228285;28352266;28425720;28467828;28510447;28514659;28649982;28832583;28834231;28904123;2890644;29242379;29262337;29351928;29371260;29393594;29493099;29508533;29557506;29610346;29632711;29742433;29786170;29945920;30201761;30315122;30410026;30484775;30524438;30573663;30779550;30833945;31048504;31092671;31154438;31217245;31222486;31530632;31720911;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33866776;33912179;33936100;33968037;33981976;34019948;34087483;34171305;3417785;34185709;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36901413;37217939;37938771;37977651;38093640;38665916;40596516;40914422;6146630;7481823;7493978;7569928;7592972;7650016;7667286;7822302;7877694;8046351;8049197;8112342;8134367;8145819;8146180;8148318;8313912;8397411;8407899;8415765;8524399;8552632;8553074;8642258;8687433;8837779;8849454;8909537;8939989;8947036;9075930;9092476;9100026;9169477;9202021;9303539;9311912;9312039;9427626;9428629;9497313;9539769;9545226;9606180;9635431;9651214;9705237;9721721;9723620;9736607;9756920;9812899;9931503", "class_list": "", "function": "Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 beta subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins; at least some clathrin-associated sorting proteins (CLASPs) are recognized by their [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds to clathrin heavy chain, promoting clathrin lattice assembly; clathrin displaces at least some CLASPs from AP2B1 which probably then can be positioned for further coat assembly., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Polymorphisms of ACE and thrombophilic genes: risk for recurrent pregnancy loss., [RefSeq, PubMed]; Prevalence of Polymorphism and Post-Training Expression of ACTN3 (R/X) and ACE (I/D) Genes in CrossFit Athletes. Publication Status: Online-Only, [RefSeq, PubMed]; Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes., [RefSeq, PubMed]; The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NJP3;P21851;Q7Z451;Q96J19", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0005048 signal sequence binding;GO:0030276 clathrin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030666 endocytic vesicle membrane", "go_biological_process": "GO:0098884 postsynaptic neurotransmitter receptor internalization;GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0048268 clathrin coat assembly;GO:0072583 clathrin-dependent endocytosis", "synthesized_glycan_count": 0, "hit_score": 50.0, "record_id": "P63010-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14512-1", "uniprot_id": [ { "id": "SOCS7_HUMAN", "url": "https://www.uniprot.org/uniprot/O14512", "type": "external" } ], "mass": 62969.0, "length": 581, "protein_name": "Suppressor of cytokine signaling 7", "gene_name": "SOCS7", "organism": "Human", "refseq_name": "suppressor of cytokine signaling 7", "refseq_ac": [ { "id": "NP_055413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413", "type": "external" } ], "gene_names_uniprotkb": "SOCS7; NAP4; SOCS6", "gene_names_refseq": "NAP4; NCKAP4; SOCS7", "protein_names_uniprotkb": "Suppressor of cytokine signaling 7; NAP-4; Nck, Ash and phospholipase C gamma-binding protein; Nck-associated protein 4; SOCS-7", "protein_names_refseq": "NAP-4; NCK-associated protein 4; Nck, Ash and phospholipase C binding protein; SOCS-7; nck, Ash and phospholipase C gamma-binding protein; suppressor of cytokine signaling 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:30837)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10969179;11237011;15242778;15677474;16127460;17803907;25576301;28121444;28514659;28832583;28904123;29242379;30315122;31844290;32357974;32387766;32938616;33912179;33968037;33981976;34345210;34509645;35042950;35051231;35254053;36169255;36769102;9344857", "class_list": "", "function": "Lack of association between SOCS3 and SOCS7 polymorphisms and psoriasis., [RefSeq, PubMed]; Long noncoding RNA UCA1 regulates HCV replication and antiviral response via miR-145-5p/SOCS7/IFN pathway. Publication Status: Online-Only, [RefSeq, PubMed]; SOCS7-Derived BC-Box Motif Peptide Mediated Cholinergic Differentiation of Human Adipose-Derived Mesenchymal Stem Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate-recognition component of a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex, also named CRL5 complex), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DAB1 and IRS1 (PubMed:16127460). Specifically recognizes and binds phosphorylated proteins via its SH2 domain, promoting their ubiquitination (By similarity). The ECS(SOCS7) complex acts as a key regulator of reelin signaling by mediating ubiquitination and degradation of phosphorylated DAB1 in the cortical plate of the developing cerebral cortex, thereby regulating neuron positioning during cortex development (By similarity). Functions in insulin signaling and glucose homeostasis through IRS1 ubiquitination and subsequent proteasomal degradation (PubMed:16127460). Also inhibits prolactin, growth hormone and leptin signaling by preventing STAT3 and STAT5 activation, sequestering them in the cytoplasm and reducing their binding to DNA (PubMed:15677474)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The E3 ubiquitin ligase SOCS-7 reverses immunosuppression via Shc1 signaling in hepatocellular carcinoma., [RefSeq, 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": 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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "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": "A2VCU2;Q0IJ63", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0035591 signaling adaptor activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0140031 phosphorylation-dependent protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0031466 Cul5-RING ubiquitin ligase complex", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0008286 insulin receptor signaling pathway;GO:0009968 negative regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "O14512-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IZ2-1", "uniprot_id": [ { "id": "ADTRP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IZ2", "type": "external" } ], "mass": 26842.0, "length": 230, "protein_name": "Androgen-dependent TFPI-regulating protein", "gene_name": "ADTRP", "organism": "Human", "refseq_name": "androgen-dependent TFPI-regulating protein isoform 1", "refseq_ac": [ { "id": "NP_001137420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137420", "type": "external" } ], "gene_names_uniprotkb": "ADTRP; C6orf105", "gene_names_refseq": "ADTRP; AIG1L; C6orf105; dJ413H6.1", "protein_names_uniprotkb": "Androgen-dependent TFPI-regulating protein; 3.1.-.-; FAHFA hydrolase ADTRP; Fatty acid esters of hydroxy fatty acids hydrolase ADTRP", "protein_names_refseq": "FAHFA hydrolase ADTRP; androgen-dependent TFPI-regulating protein isoform 1; androgen-dependent TPF1-regulating protein; fatty acid esters of hydroxy fatty acids hydrolase ADTRP", "tax_id": 9606, "disease": "", "pathway": " (hsa:84830)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;16415175;21868574;27018888;32445923;32790694;33392160;33856550;34797389", "class_list": "", "function": "Androgen-dependent tissue factor pathway inhibitor regulating protein: a review of its peripheral actions and association with cardiometabolic diseases. Review article, [RefSeq, PubMed]; Data identify POU1F1 as a transcription factor that regulates TFPI transcription in response to ADTRP, and link POU1F1 variants to risk of CAD for the first time., [RefSeq, PubMed]; Detection of ADTRP in circulation and its role as a novel biomarker for coronary artery disease. Publication Status: Online-Only, [RefSeq, PubMed]; GATA2 regulates the CAD susceptibility gene ADTRP rs6903956 through preferential interaction with the G allele., [RefSeq, PubMed]; Hydrolyzes bioactive fatty-acid esters of hydroxy-fatty acids (FAHFAs), but not other major classes of lipids (PubMed:27018888). Show a preference for FAHFAs with branching distal from the carboxylate head group of the lipids (PubMed:27018888). Regulates the expression and the cell-associated anticoagulant activity of the inhibitor TFPI in endothelial cells (in vitro) (PubMed:21868574)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This study confirms ADTRP expression and colocalization with TFPI and caveolin-1 in endothelial cell., [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": 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": 2, "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": "B2R7T9;B4DV39;Q5THW1", "ec_number_list": [ { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0016787 hydrolase activity", "go_cellular_component": "GO:0009986 cell surface;GO:0016020 membrane;GO:0012505 endomembrane system;GO:0005901 caveola", "go_biological_process": "GO:0050709 negative regulation of protein secretion;GO:0010628 positive regulation of gene expression;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0002686 negative regulation of leukocyte migration;GO:0042758 long-chain fatty acid catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96IZ2-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4H4-1", "uniprot_id": [ { "id": "GPSM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4H4", "type": "external" } ], "mass": 17866.0, "length": 160, "protein_name": "G protein-signaling modulator 3", "gene_name": "GPSM3", "organism": "Human", "refseq_name": "G-protein-signaling modulator 3", "refseq_ac": [ { "id": "NP_001263430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263430", "type": "external" } ], "gene_names_uniprotkb": "GPSM3; AGS4; C6orf9; G18", "gene_names_refseq": "AGS4; C6orf9; G18.1a; G18.1b; G18.2; G18; GPSM3; NG1", "protein_names_uniprotkb": "G protein-signaling modulator 3; Activator of G protein signaling 4; G18.1b; Protein G18", "protein_names_refseq": "G-protein signaling modulator 3 (AGS3-like, C. elegans); G-protein signalling modulator 3 (AGS3-like, C. elegans); G-protein-signaling modulator 3; activator of G-protein signaling 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:63940); (R-HSA-418594)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "11007482;11237011;12120503;14656218;15096500;15951850;16634148;16923326;18434541;18577758;20058876;20166139;22843681;23186163;23481700;24275569;24715725;2534964;27307211;2748346;27846572;27862975;27920218;28228285;2834384;28832583;28904123;29242379;29393594;29508533;29557506;29632711;30315122;30784271;31844290;32157095;33141586;33717175;33912179;33968037;35051231;35580925;36284347;7937899;8015379;8406495", "class_list": "", "function": "Interacts with subunit of G(i) alpha proteins and regulates the activation of G(i) alpha proteins., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Mutational analysis of the role of GoLoco motifs in guanine nucleotide dissociation inhibitor activity of G18 protein., [RefSeq, PubMed]; Role for GPSM3 in neutrophil migration toward proinflammatory chemoattractants LTB4 and CXCL8-a discovery that helps strengthen the association between the promoter-weakening GPSM3 SNP rs204989 and a reduced risk of rheumatoid arthritis, [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": 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": 7, "reported_mutagensis": 1, "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": "A2BFJ3", "ec_number_list": [], "go_molecular_function": "GO:0030695 GTPase regulator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0050729 positive regulation of inflammatory response;GO:0050727 regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9Y4H4-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2B5-1", "uniprot_id": [ { "id": "VP9D1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2B5", "type": "external" } ], "mass": 68956.0, "length": 631, "protein_name": "VPS9 domain-containing protein 1", "gene_name": "VPS9D1", "organism": "Human", "refseq_name": "VPS9 domain-containing protein 1", "refseq_ac": [ { "id": "NP_004904", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004904", "type": "external" } ], "gene_names_uniprotkb": "VPS9D1; ATPBL; C16orf7", "gene_names_refseq": "ATP-BL; ATPBL; C16orf7; VPS9D1", "protein_names_uniprotkb": "VPS9 domain-containing protein 1; Protein ATP-BL", "protein_names_refseq": "VPS9 domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9605)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10231027;11237011;25576301;29557506;32938616;32983136;33592498;33968037;34357683;35051231;35580925;36010968;36762583;39894887", "class_list": "", "function": "Vps9d1 regulates tubular endosome formation through specific activation of Rab22A., [RefSeq, 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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0030139 endocytic vesicle", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0015986 proton motive force-driven ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9Y2B5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6QNK2-1", "uniprot_id": [ { "id": "AGRD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6QNK2", "type": "external" } ], "mass": 96530.0, "length": 874, "protein_name": "Adhesion G protein-coupled receptor D1", "gene_name": "ADGRD1", "organism": "Human", "refseq_name": "adhesion G-protein coupled receptor D1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001317426", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317426", "type": "external" } ], "gene_names_uniprotkb": "ADGRD1; GPR133; PGR25", "gene_names_refseq": "ADGRD1; GPR133; PGR25", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor D1; G protein-coupled receptor 133; G protein-coupled receptor PGR25", "protein_names_refseq": "G-protein coupled receptor PGR25; adhesion G-protein coupled receptor D1 isoform 2 precursor; probable G-protein coupled receptor 133", "tax_id": 9606, "disease": "", "pathway": " (hsa:283383)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12679517;15203201;19729412;20031603;22025619;22575658;25533341;25713288;25892735;27516204;27775701;28411811;29391424;31154438;32161166;32488085;33717175;33968037;34022221;35051231;35154160;35251023;35418678;35418679;35447113;35580925;36457341;38564758;38758649;38786015;39884271", "class_list": "", "function": "A role for GPR133 protein in affecting the length of the electrocardiographic RR interval and heart rate. GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; ADGRD1 as a Potential Prognostic and Immunological Biomarker in Non-Small-Cell Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Adhesion G protein-coupled receptor (aGPCR) for androgen hormone 5alpha-dihydrotestosterone (5alpha-DHT), also named 17beta-hydroxy-5alpha-androstan-3-one, the most potent hormone among androgens (PubMed:39884271). Also activated by methenolone drug (PubMed:39884271). 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:39884271). ADGRD1 is coupled to G(s) G proteins and mediates activation of adenylate cyclase activity (PubMed:22025619, PubMed:22575658, PubMed:35447113, PubMed:39884271). Acts as a 5alpha-DHT receptor in muscle cells, thereby increasing intracellular cyclic AMP (cAMP) levels and enhancing muscle strength (PubMed:39884271)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Modulation of GPR133 (ADGRD1) signaling by its intracellular interaction partner extended synaptotagmin 1., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The adhesion G-protein-coupled receptors (GPCRs), including GPR133, are membrane-bound proteins with long N termini containing multiple domains. GPCRs, or GPRs, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (summary by Bjarnadottir et al., 2004 [PubMed 15203201]).[supplied by OMIM, Nov 2010]., [RefSeq]; Upregulation of GPR133 expression impaired the phagocytosis of macrophages in recurrent spontaneous miscarriage., [RefSeq, PubMed]; Upregulation of mRNA Expression of ADGRD1/GPR133 and ADGRG7/GPR128 in SARS-CoV-2-Infected Lung Adenocarcinoma Calu-3 Cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 46, "reported_glycation": 0, "reported_snv": 65, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B2CKK9;B7ZLF7;Q2M1L3;Q6ZMQ1;Q7Z7M2;Q86SM4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;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:0014819 regulation of skeletal muscle contraction", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q6QNK2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25705-1", "uniprot_id": [ { "id": "ATPA_HUMAN", "url": "https://www.uniprot.org/uniprot/P25705", "type": "external" } ], "mass": 59751.0, "length": 553, "protein_name": "ATP synthase F(1) complex subunit alpha, mitochondrial", "gene_name": "ATP5F1A", "organism": "Human", "refseq_name": "ATP synthase F(1) complex subunit alpha, mitochondrial isoform c", "refseq_ac": [ { "id": "NP_001001935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001935", "type": "external" } ], "gene_names_uniprotkb": "ATP5F1A; ATP5A1; ATP5AL2; ATP5A; ATPM", "gene_names_refseq": "ATP5A1; ATP5AL2; ATP5A; ATP5F1A; ATPM; COXPD22; HEL-S-123m; MC5DN4A; MC5DN4B; MC5DN4; MOM2; OMR; ORM; hATP1", "protein_names_uniprotkb": "ATP synthase F(1) complex subunit alpha, mitochondrial; ATP synthase F1 subunit alpha", "protein_names_refseq": "ATP synthase F(1) complex subunit alpha, mitochondrial isoform c; ATP synthase F(1) complex subunit alpha, mitochondrial; ATP synthase alpha chain, mitochondrial; ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle; ATP sythase (F1-ATPase) alpha subunit; epididymis secretory sperm binding protein Li 123m; mitochondrial ATP synthetase, oligomycin-resistant", "tax_id": 9606, "disease": "mitochondrial complex V (ATP synthase) deficiency nuclear type 4A (Disease Ontology:DOID:0070461); mitochondrial complex V (ATP synthase) deficiency nuclear type 4B (Disease Ontology:DOID:0070462); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); combined oxidative phosphorylation deficiency 22 (Disease Ontology:DOID:0111498); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); pulmonary hypertension (Disease Ontology:DOID:6432); vascular dementia (Disease Ontology:DOID:8725)", "pathway": " (hsa:498); (R-HSA-1268020); (R-HSA-163210); (R-HSA-8949613); (R-HSA-9837999)", "pathway_count": 5, "publication_count": 200, "publication_id_list": "10077593;11237011;11410595;11923310;12198491;14623864;14654843;14726512;15254020;15522782;15644312;15683237;15870080;16115876;16185709;16849325;17101804;17121862;17297443;17510655;17579211;17624330;18174896;1830491;18323778;18446792;18452278;18678864;18991276;19285951;19409522;19453276;19608861;19767391;19841671;19892738;19962426;20068230;20068231;20593814;20833715;21406692;21750375;21836051;22114354;22121020;22252321;22262461;22309213;22710082;22864911;23041349;23186163;23201127;23271734;23596069;23597483;23599390;23811401;23931759;24098383;24275569;24315374;24520911;24687277;24715725;25285856;25315652;25418920;25502872;25548167;25576301;25645385;25764979;25781180;25880248;25892735;25997101;26154972;26358770;26374642;26416881;26477565;26504172;26530328;26697887;26853435;26923599;26968360;27090790;27452731;27479602;27485409;27496948;27600516;27623147;27642048;27846572;27920218;28218747;28228285;28377575;28396416;28446606;28467828;28514659;28832583;28855257;28904123;29242379;29301859;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29932645;30120231;30146159;30315122;30397120;30444036;30620550;30626607;30779550;31154438;31217245;31222486;31327635;31530632;31695197;31844290;31848261;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33043033;33141586;33214551;33257573;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34483339;34704252;34725712;34932366;34943861;34954817;35051231;35083852;35154160;35251023;35318648;35561310;35580925;35870450;36010968;36215666;36241641;36284347;36374104;36629048;37217939;37244256;37938771;38016997;38665916;38910562;38978225;39433089;39990658;40596516;40914422;4517936;7498159;7623837;8086450;8428659", "class_list": "", "function": "BRG1 promotes liver cancer cell proliferation and metastasis by enhancing mitochondrial function and ATP5A1 synthesis through TOMM40., [RefSeq, PubMed]; Overexpression of ATP5F1A in Cardiomyocytes Promotes Cardiac Reverse Remodeling., [RefSeq, PubMed]; Proteomic analyses identify HK1 and ATP5A to be overexpressed in distant metastases of lung adenocarcinomas compared to matched primary tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Subunit alpha, 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 (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). 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). With the catalytic subunit beta (ATP5F1B), forms the catalytic core in the F(1) domain (PubMed:37244256). Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (Probable). Binds the bacterial siderophore enterobactin and can promote mitochondrial accumulation of enterobactin-derived iron ions (PubMed:30146159)., [UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "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": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K092;B4DY56;K7ENP3;Q53XX6;Q8IXV2;Q96FB4;Q96HW2;Q96IR6;Q9BTV8", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0043531 ADP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0045471 response to ethanol;GO:0006754 ATP biosynthetic process;GO:0001937 negative regulation of endothelial cell proliferation;GO:0071549 cellular response to dexamethasone stimulus", "synthesized_glycan_count": 0, "hit_score": 20.8, "record_id": "P25705-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100010001001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78314-1", "uniprot_id": [ { "id": "3BP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P78314", "type": "external" } ], "mass": 62244.0, "length": 561, "protein_name": "SH3 domain-binding protein 2", "gene_name": "SH3BP2", "organism": "Human", "refseq_name": "SH3 domain-binding protein 2 isoform a", "refseq_ac": [ { "id": "NP_001116153", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116153", "type": "external" } ], "gene_names_uniprotkb": "SH3BP2; 3BP2; RES4-23", "gene_names_refseq": "3BP-2; 3BP2; CRBM; CRPM; RES4-23; SH3BP2", "protein_names_uniprotkb": "SH3 domain-binding protein 2; 3BP-2", "protein_names_refseq": "Abl-SH3 binding protein 2; SH3 domain-binding protein 2 isoform a; TNFAIP3 interacting protein 2; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "cherubism 1 (Disease Ontology:DOID:1856)", "pathway": " (hsa:6452)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;11381256;11390470;12709437;12900899;14577811;14759258;15751964;18669648;18991276;19833725;23186163;24275569;24715725;25576301;26154972;27869121;28832583;28904123;29242379;29485866;29557506;29789417;29885053;30410026;30429286;30524438;30779550;31154438;31844290;31848261;32157095;32161166;32488085;32897882;32983136;33912179;33941395;33968037;33981976;34932366;35051231;35129602;35279646;35580925;36241641;38127456;39894887;9299232;9734812", "class_list": "", "function": "Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism., [UniProtKB]; Cherubism in three siblings.', trans 'A cherubismus elofordulasa harom testverben. Publication Status: Online-Only, [RefSeq, PubMed]; SH3BP2-related fibro-osseous disorders of the maxilla and mandible: A systematic review., [RefSeq, PubMed]; Scaffold protein SH3BP2 signalosome is pivotal for immune activation in nephrotic syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; The current study shows that SH3BP2 is expressed in primary tumors and cell lines from Gastrointestinal stromal tumors (GISTs) patients and that SH3BP2 silencing leads to a downregulation of oncogenic KIT and PDGFRA expression and an increase in apoptosis in imatinib-sensitive and imatinib-resistant GIST cells., [RefSeq, PubMed]; The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]., [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": 10, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NNC2;B2R5R6;B4DT04;D3DVR0;D6R919;O00500;O15373;P78315", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0017124 SH3 domain binding", "go_cellular_component": "", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "P78314-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2K2-5", "uniprot_id": [ { "id": "SIK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2K2", "type": "external" } ], "mass": 144851.0, "length": 1321, "protein_name": "Serine/threonine-protein kinase SIK3", "gene_name": "SIK3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase SIK3 isoform 3", "refseq_ac": [ { "id": "NP_001268678", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268678", "type": "external" } ], "gene_names_uniprotkb": "SIK3; KIAA0999; L19; QSK", "gene_names_refseq": "L19; QSK; SEMDK; SIK-3; SIK3", "protein_names_uniprotkb": "Serine/threonine-protein kinase SIK3; 2.7.11.1; SIK-3; Salt-inducible kinase 3; Serine/threonine-protein kinase QSK", "protein_names_refseq": "salt-inducible kinase 3; serine/threonine-protein kinase QSK; serine/threonine-protein kinase SIK3 isoform 3; serine/threonine-protein kinase SIK3", "tax_id": 9606, "disease": "spondyloepimetaphyseal dysplasia, Krakow type (MONDO:MONDO:0032571)", "pathway": " (hsa:23387)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "14976552;15334068;16306228;16959974;18669648;19369195;22299025;23186163;23481700;24275569;25418920;25645385;25892735;26375851;27862975;27920218;28228285;28832583;28834231;29211348;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30232230;30315122;30410026;30524438;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34211107;34357683;34839513;34932366;35051231;35318648;35580925;36010968;36241641;36284347;38057370;38253038", "class_list": "", "function": "Positive regulator of mTOR signaling that functions by triggering the degradation of DEPTOR, an mTOR inhibitor. Involved in the dynamic regulation of mTOR signaling in chondrocyte differentiation during skeletogenesis (PubMed:30232230). Negatively regulates cAMP signaling pathway possibly by acting on CRTC2/TORC2 and CRTC3/TORC3 (Probable). Prevents HDAC4 translocation to the nucleus (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Targeting SIK3 to modulate hippocampal synaptic plasticity and cognitive function by regulating the transcription of HDAC4 in a mouse model of Alzheimer's disease., [RefSeq, PubMed]; [Analysis of SIK3 gene variation in a boy with autism spectrum disorder complicated with epilepsy]., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "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": 11, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 21, "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": "A1A5A8;H0Y494;J3KPC8;Q59FY2;Q5M9N1;Q6P3R6;Q8IYM8;Q9HA50", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0050321 tau-protein kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0000226 microtubule cytoskeleton organization;GO:1904515 positive regulation of TORC2 signaling", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9Y2K2-5", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16658-1", "uniprot_id": [ { "id": "FSCN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16658", "type": "external" } ], "mass": 54530.0, "length": 493, "protein_name": "Fascin", "gene_name": "FSCN1", "organism": "Human", "refseq_name": "fascin", "refseq_ac": [ { "id": "NP_003079", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003079", "type": "external" } ], "gene_names_uniprotkb": "FSCN1; FAN1; HSN; SNL", "gene_names_refseq": "FSCN1; HSN; SNL; p55", "protein_names_uniprotkb": "Fascin; 55 kDa actin-bundling protein; Singed-like protein; p55", "protein_names_refseq": "55 kDa actin-bundling protein; epididymis secretory sperm binding protein; fascin homolog 1, actin-bundling protein; fascin; singed-like (fascin homolog, sea urchin)", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); common bile duct neoplasm (Disease Ontology:DOID:4608); cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:6624); (R-HSA-6785807)", "pathway_count": 2, "publication_count": 207, "publication_id_list": "10.1101/2023.09.13.557529;10023775;10219247;10369418;10510379;10586089;10867011;11058569;11084045;11104795;11120780;11237011;11278437;11278729;11356008;11404481;11463377;11960372;12223527;12242343;12600988;12789270;12832402;12902483;14634100;14712222;15116091;15261459;15584925;15805299;15869882;15950906;16007214;16048438;16107692;16205632;16236134;16397018;16408927;16451196;16510571;16540365;16606674;17427945;17458857;17572495;18243101;18353781;18447642;18644974;18669648;19124156;19185846;19397496;19651622;20068231;20137952;20393565;20434460;20493732;20713986;21102457;21252155;21685497;21689689;21706053;21730069;21937440;21994466;22046235;22155786;22205702;22223895;22383755;22564415;22645359;22693070;22851691;23086340;23124025;23172665;23184945;23186163;23455323;23555662;23783831;23967200;24097101;24397554;24715725;24743777;25218447;25234944;25418920;25502872;25576301;25645385;25880248;26154972;26375851;26552660;26992070;27554857;27846572;27920218;28063628;28228285;28251354;28446606;28467828;28514659;28832583;28860189;28871256;28904123;29242379;29299131;29331515;29393594;29508533;29557506;29632046;29786170;29789417;29930882;30315122;30410026;30429286;30484775;30573663;30664308;30779550;30833945;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32265295;32294157;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33214551;33298915;33592498;33633747;33717175;33912179;33968037;33981976;34019948;34078123;34171305;34185709;34433824;34561969;34725712;34932366;35051231;35138101;35154160;35251023;3525578;35318648;35580925;36215666;36241641;36284347;37938771;38587571;38665916;38679464;38964493;39990658;7510216;7512451;7529288;7795521;7796300;7898939;7907877;7933116;8068206;8085155;8602263;8621622;8647875;8663118;8668165;8797861;8816495;8999969;9013879;9362073;9571235;9651359;9723655;9736340;9822675;9874564", "class_list": "", "function": "Actin-binding protein that contains 2 major actin binding sites (PubMed:21685497, PubMed:23184945). Organizes filamentous actin into parallel bundles (PubMed:20393565, PubMed:21685497, PubMed:23184945). Plays a role in the organization of actin filament bundles and the formation of microspikes, membrane ruffles, and stress fibers (PubMed:22155786). Important for the formation of a diverse set of cell protrusions, such as filopodia, and for cell motility and migration (PubMed:20393565, PubMed:21685497, PubMed:23184945). Mediates reorganization of the actin cytoskeleton and axon growth cone collapse in response to NGF (PubMed:22155786)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Fascin regulatory sequences are found solely in the 5'-flanking promoter region; the promoter exerts robust activity in dendritic cells (DC) and a fascin-positive neuronal cell line; promoter activity in DC markedly increases with maturation of DC., [RefSeq, PubMed]; N6-methyladenosine methylation on FSCN1 mediated by METTL14/IGF2BP3 contributes to human papillomavirus type 16-infected cervical squamous cell carcinoma., [RefSeq, PubMed]; The FSCN1 gene rs2966447 variant is associated with increased serum fascin-1 levels and breast cancer susceptibility., [RefSeq, PubMed]; The association of FSCN1 (rs852479, rs1640233) and HOTAIR (rs920778) polymorphisms with the risk of breast cancer in Egyptian women. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin's lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15. [provided by RefSeq, Sep 2011]., [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": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NI89;B2RE97;Q96IC5;Q96IH1;Q9BRF1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0030674 protein-macromolecule adaptor activity;GO:0051015 actin filament binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0044393 microspike;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005911 cell-cell junction", "go_biological_process": "GO:0030046 parallel actin filament bundle assembly;GO:0035089 establishment of apical/basal cell polarity;GO:0016477 cell migration;GO:0032956 regulation of actin cytoskeleton organization;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 21.3, "record_id": "Q16658-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4H2-1", "uniprot_id": [ { "id": "IRS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4H2", "type": "external" } ], "mass": 137334.0, "length": 1338, "protein_name": "Insulin receptor substrate 2", "gene_name": "IRS2", "organism": "Human", "refseq_name": "insulin receptor substrate 2", "refseq_ac": [ { "id": "NP_003740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003740", "type": "external" } ], "gene_names_uniprotkb": "IRS2", "gene_names_refseq": "IRS-2; IRS2", "protein_names_uniprotkb": "Insulin receptor substrate 2; IRS-2", "protein_names_refseq": "insulin receptor substrate 2", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); intellectual disability (Disease Ontology:DOID:1059); Alzheimer's disease (Disease Ontology:DOID:10652); amnestic disorder (Disease Ontology:DOID:10914); osteoporosis (Disease Ontology:DOID:11476); glucose metabolism disease (Disease Ontology:DOID:4194); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:8660); (R-HSA-109704); (R-HSA-112399); (R-HSA-112412); (R-HSA-1257604); (R-HSA-1266695); (R-HSA-198203); (R-HSA-2219530); (R-HSA-2428928); (R-HSA-2586552); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-74713); (R-HSA-74749); (R-HSA-8853659); (R-HSA-9006335); (R-HSA-9027276); (R-HSA-9027277); (R-HSA-9027283); (R-HSA-9027284); (R-HSA-982772)", "pathway_count": 21, "publication_count": 383, "publication_id_list": "10077005;10191262;10194437;10427092;10448070;10455108;10498627;10508167;10514492;10531310;10688912;10869344;10944457;10995764;11000521;11002419;11007921;11027663;11063744;11090077;11120772;11124936;11136978;11147812;11231127;11237712;11313946;11316748;11360177;11390647;11418668;11443118;11448122;11470823;11491658;11546808;11557037;11564764;11598010;11702783;11728342;11748924;11803464;11886862;12032311;12094235;12121613;12167717;12184921;12242309;12493740;12506011;12639902;12660731;12687350;12734179;12767043;12771945;12889071;12897384;12907755;1325671;1375226;1377053;1381348;14506247;14593182;14615605;14707138;14712218;14766744;15044950;15051545;15069075;15149544;15182363;15286081;15302935;15316008;15353558;15356145;1545823;15459301;1549776;15546878;15569713;15644415;1569084;15718470;15749844;15767667;15834429;16339315;16456541;16497976;16627759;16647110;16684964;16754202;16814735;16847462;16964243;17050683;17081983;17108343;1716764;17200115;17245604;17322306;17408801;17525332;17565041;17626883;17998941;18029441;18077418;18079394;18083107;18088087;18220336;18317450;18382766;18452278;18488018;18491316;18516053;18594509;18606717;18669648;18754654;18755892;18767875;18775330;18829560;18925875;1898771;18991276;19109239;19185485;19279408;19369195;19411071;19413330;19415658;19438505;1948064;19576174;19615748;19644473;19651622;19664994;19664995;19665053;19805105;19864382;19901323;19920141;19927328;19962665;20068231;20112406;20166139;20184486;20231295;20338997;20478380;20522708;20685959;20713702;21102635;21105711;21188471;21317208;21368164;21372320;21406692;21478295;2163696;21668414;21779497;21779505;21827948;21884975;21976531;21984976;21993244;22028470;22120714;22188813;22347534;22464331;22509308;22569528;22588880;22589270;22750304;22802530;22935486;23103841;2317865;23186163;23301498;23303910;23443682;23575685;23669310;23775122;24129315;24275569;24417533;24584613;24616100;24715725;24897931;24937142;25061488;25092874;25219551;25297629;25576301;25580119;25582283;25645385;25781681;25879670;26085527;26154972;26301565;26657864;26974155;26992070;27423467;27600516;27846572;27862975;27869121;28065675;28142147;2825030;28778966;28832583;28834231;29139090;29242379;29393594;29493099;29557506;29632711;29786170;30059200;30429286;31135801;31154438;31373491;31530632;31844290;31848261;31918398;31998317;32157095;32161166;32387766;32488085;32554797;32798372;32897882;32938616;32983136;33141586;33392160;3349036;33936100;33968037;33981976;34185709;34509645;35051231;35251023;35254053;35260532;35289036;35580925;36215666;36240223;36284347;37173295;37217939;37481466;37716291;37894751;37938771;6148751;7489741;7514277;7539782;7541045;7543144;7559478;7608147;7637810;7665556;7691587;7719938;7739560;7744007;7744773;7809086;7876259;7935463;7954816;7972015;8034732;8052307;8128231;8188682;8266077;8316835;8343952;8394845;8400282;8493579;8530377;8621421;8628282;8631863;8637703;8645157;8657148;8662806;8662982;8663426;8665852;8674117;8677749;8702728;8702919;8709637;8710374;8810325;8816480;8861946;8939933;9003010;9020115;9030599;9047384;9057652;9058373;9061609;9092791;9162069;9192684;9195949;9209406;9233603;9299438;9312143;9334184;9398404;9405487;9407096;9491986;9553136;9553137;9573010;9587401;9600917;9604935;9609109;9657743;9715265;9722506;9736715;9764818;9774108;9832424;9837784;9852124;9883723;9895304;9923445;9927426;9974393", "class_list": "", "function": "Association of IRS-1 and IRS-2 polymorphisms with predisposition to type-2 diabetes (T2D): a meta-analysis and trial sequential analysis., [RefSeq, PubMed]; Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study., [RefSeq, PubMed]; Insulin receptor substrate 2 gene Gly1057Asp polymorphism is a risk factor for nonalcoholic fatty liver disease., [RefSeq, PubMed]; Signaling adapter protein that participates in the signal transduction from two prominent receptor tyrosine kinases, insulin receptor/INSR and insulin-like growth factor I receptor/IGF1R (PubMed:25879670). Plays therefore an important role in development, growth, glucose homeostasis as well as lipid metabolism (PubMed:24616100). Upon phosphorylation by the insulin receptor, functions as a signaling scaffold that propagates insulin action through binding to SH2 domain-containing proteins including the p85 regulatory subunit of PI3K, NCK1, NCK2, GRB2 or SHP2 (PubMed:15316008, PubMed:19109239). Recruitment of GRB2 leads to the activation of the guanine nucleotide exchange factor SOS1 which in turn triggers the Ras/Raf/MEK/MAPK signaling cascade (By similarity). Activation of the PI3K/AKT pathway is responsible for most of insulin metabolic effects in the cell, and the Ras/Raf/MEK/MAPK is involved in the regulation of gene expression and in cooperation with the PI3K pathway regulates cell growth and differentiation. Acts a positive regulator of the Wnt/beta-catenin signaling pathway through suppression of DVL2 autophagy-mediated degradation leading to cell proliferation (PubMed:24616100). Plays a role in cell cycle progression by promoting a robust spindle assembly checkpoint (SAC) during M-phase (PubMed:32554797). In macrophages, IL4-induced tyrosine phosphorylation of IRS2 leads to the recruitment and activation of phosphoinositide 3-kinase (PI3K) (PubMed:19109239)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; The IGF-Independent Role of IRS-2 in the Secretion of MMP-9 Enhances the Growth of Prostate Carcinoma Cell Line PC3. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 88, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 93, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "Q96RR2;Q9BZG0;Q9Y6I5", "ec_number_list": [], "go_molecular_function": "GO:0005158 insulin receptor binding;GO:0019904 protein domain specific binding;GO:0071889 14-3-3 protein binding;GO:0035591 signaling adaptor activity;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:1990859 cellular response to endothelin;GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0032000 positive regulation of fatty acid beta-oxidation;GO:0032024 positive regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 39.6, "record_id": "Q9Y4H2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08727-1", "uniprot_id": [ { "id": "K1C19_HUMAN", "url": "https://www.uniprot.org/uniprot/P08727", "type": "external" } ], "mass": 44106.0, "length": 400, "protein_name": "Keratin, type I cytoskeletal 19", "gene_name": "KRT19", "organism": "Human", "refseq_name": "keratin, type I cytoskeletal 19", "refseq_ac": [ { "id": "NP_002267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002267", "type": "external" } ], "gene_names_uniprotkb": "KRT19", "gene_names_refseq": "CK19; K19; K1CS; KRT19", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 19; CK-19; Cytokeratin-19; K19; Keratin-19", "protein_names_refseq": "40-kDa keratin intermediate filament; CK-19; cytokeratin 19; keratin 19, type I; keratin, type I cytoskeletal 19; keratin, type I, 40-kd", "tax_id": 9606, "disease": "", "pathway": " (hsa:3880); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-9725554); (R-HSA-9925563); (R-HSA-9927418); (R-HSA-9927426)", "pathway_count": 7, "publication_count": 128, "publication_id_list": "10066784;10196183;10212274;10231017;10411887;10588656;10623642;10771479;10809736;11237011;11350120;11380615;11590230;11682035;12067728;12624109;1286667;12902340;15033990;15140226;15234001;15337775;15373777;15556625;15675955;15780751;15797384;15803139;15846844;16000376;16033098;16061697;16083285;16297201;16382671;16639001;1691188;1694855;1714783;17330888;17515931;17521629;17562024;17596512;18083107;18212344;18691976;18843291;18991276;19190773;19194479;19924134;20068231;20179351;20657595;20667819;20940292;21049038;21439340;21654840;21997417;22735594;23186163;23283814;23481192;23629652;24029068;24129315;2414304;2447559;2448790;2468493;2469734;24794495;25208914;25342465;25926655;25966163;26340985;26390218;26992070;27397612;27862975;28008968;29557506;29786170;29789417;29930882;30192525;30429286;30779550;30905808;31399284;31611695;31844290;32157095;32161166;32347972;32350084;32488085;32504736;32574038;32938616;33123756;33767587;33968037;33981976;34087483;34171305;34509645;35051231;35580925;36241641;37387440;37555362;37592256;37938771;38231289;38987531;39531497;7541742;7543090;7543411;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "Clinical implications of Cytokeratin 19 expression in patients with oral squamous cell carcinoma., [RefSeq, PubMed]; DNA methylation-associated allelic inactivation regulates Keratin 19 gene expression during pancreatic development and carcinogenesis., [RefSeq, PubMed]; Involved in the organization of myofibers. Together with KRT8, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Keratin 19 binds and regulates cytoplasmic HNRNPK mRNA targets in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Predictive Value of Serum CYFRA 21-1 and CK19-2G2 for Tumor Aggressiveness and Overall Survival in Hepatitis C-Related Hepatocellular Carcinoma Among Egyptians: A Prospective Study., [RefSeq, PubMed]; Silencing CK19 regulates ferroptosis by affecting the expression of GPX4 and ACSL4 in oral squamous cell carcinoma in vivo and in vitro. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. [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, "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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic; diagnostic", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R874;Q5XG83;Q6NW33;Q7L5M9;Q96A53;Q96FV1;Q9BYF9;Q9P1Y4", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0044877 protein-containing complex binding;GO:0008307 structural constituent of muscle;GO:0030280 structural constituent of skin epidermis;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0043627 response to estrogen;GO:0045214 sarcomere organization;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "P08727-1", "record_type": "protein", "filter_code": "1001000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14654-1", "uniprot_id": [ { "id": "KCJ11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14654", "type": "external" } ], "mass": 43526.0, "length": 390, "protein_name": "ATP-sensitive inward rectifier potassium channel 11", "gene_name": "KCNJ11", "organism": "Human", "refseq_name": "ATP-sensitive inward rectifier potassium channel 11 isoform 2", "refseq_ac": [ { "id": "NP_001159762", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159762", "type": "external" } ], "gene_names_uniprotkb": "KCNJ11", "gene_names_refseq": "BIR; HHF2; IKATP; KCNJ11; KIR6.2; MODY13; PHHI; PNDM2; TNDM3", "protein_names_uniprotkb": "ATP-sensitive inward rectifier potassium channel 11; IKATP; Inward rectifier K(+) channel Kir6.2; Potassium channel, inwardly rectifying subfamily J member 11", "protein_names_refseq": "ATP-sensitive inward rectifier potassium channel 11 isoform 2; ATP-sensitive inward rectifier potassium channel 11; beta-cell inward rectifier subunit; inward rectifier K(+) channel Kir6.2; inwardly rectifing potassium channel subfamily J member 11; inwardly rectifying potassium channel KIR6.2; inwardly-rectifying potassium channel subfamily J member 11; potassium channel inwardly rectifing subfamily J member 11; potassium channel, inwardly rectifying subfamily J member 11; potassium voltage-gated channel subfamily J member 11", "tax_id": 9606, "disease": "permanent neonatal diabetes mellitus (Disease Ontology:DOID:0060639); transient neonatal diabetes mellitus 3 (Disease Ontology:DOID:0061172); familial hyperinsulinemic hypoglycemia 2 (Disease Ontology:DOID:0070218); Parkinsonism (Disease Ontology:DOID:0080855); maturity-onset diabetes of the young type 13 (Disease Ontology:DOID:0111110); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); prediabetes syndrome (Disease Ontology:DOID:11716); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); hyperinsulinism (Disease Ontology:DOID:2018); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetes mellitus, permanent neonatal 2 (MONDO:MONDO:0030087)", "pathway": " (hsa:3767); (R-HSA-1296025); (R-HSA-382556); (R-HSA-422356); (R-HSA-5578775); (R-HSA-5678420); (R-HSA-5683177)", "pathway_count": 7, "publication_count": 227, "publication_id_list": "10194514;10204114;10206966;10220561;10334322;10338089;10342826;10391210;10424882;10484077;10526167;10665657;10698936;10748049;10773014;10866047;10868950;10913253;11062458;11078440;11078469;11237011;11264248;11504826;11562789;11577798;11716850;11780755;11812794;11815450;11815460;11815462;11815463;11873862;11904675;12119109;12196472;12200636;12364426;12379217;12379510;12403779;12403834;12475777;12524280;12604685;12684222;12764427;12832055;12887316;12953268;1309948;13459201;1352877;1356264;1359686;1377674;14514350;14661924;15000528;15034580;15115830;15174025;15175422;15260953;15292329;15305887;15448106;15448107;15472518;15504896;15562009;15572341;15579781;15580558;15583126;15585596;15598648;15678092;15718250;15754088;15784703;15807877;15863492;15899824;15998776;16332676;16357843;16429405;16443778;16513675;16556766;16609879;16613899;16714477;16731833;16754674;16816140;16868246;16885549;16901789;1693919;17021801;17213273;17224452;17245405;17259518;17357072;17380317;17486119;17523162;17652641;17660294;17668386;17855752;17894550;17900700;17919183;17977821;18162464;18258787;18280666;18282684;18346985;18434309;18596924;18995841;19002207;19278978;19357197;19447222;19570978;19587354;1968359;19751721;19862647;1998343;20022885;20086079;20388710;20583968;20621639;21108950;22178883;22210847;2226863;22427649;22608503;22610116;22701567;22707725;22972900;23063411;23223335;23362265;23549614;23610579;23992284;24019521;2430951;24569881;24685677;2475911;2477373;24843477;25133187;2559024;2570070;25994790;26208431;26517901;28132103;2838329;28645727;28842488;2898143;29108130;29286281;2953725;31067468;32981041;3457471;3472246;34815345;3517644;38366195;38411150;38675722;3923453;39508922;6019353;6328127;6424440;6435940;7502040;7523390;7529176;7553863;7553864;7589840;7593639;7641683;7702581;7847376;7865904;7929371;7929812;8027028;8457197;8675920;8798450;8897013;8918259;8923010;8923011;8987985;8997178;9032109;9346285;9350615;9652413;9726229;9739505;9751501;9816258;9831708;9914469", "class_list": "", "function": "An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population., [RefSeq, PubMed]; Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cells. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium. In pancreatic cells, it forms KATP channels with ABCC8/SUR1. Can form cardiac and smooth muscle-type KATP channels with ABCC9., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus. Publication Status: Online-Only, [RefSeq, PubMed]; Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]., [RefSeq]; Potassium inwardly-rectifying channel subfamily J member 11 (KCNJ11) gene polymorphism in Egyptian type 2 diabetic patients: a single-center study. 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, "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": 7, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 14, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DWI4;E9PNK0;Q2M1H7;Q58EX3;Q8IW96", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0044325 transmembrane transporter binding;GO:0015272 ATP-activated inward rectifier potassium channel activity;GO:0030955 potassium ion binding;GO:0019829 ATPase-coupled monoatomic cation transmembrane transporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0008282 inward rectifying potassium channel;GO:0030315 T-tubule;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0055085 transmembrane transport;GO:0050877 nervous system process;GO:0046676 negative regulation of insulin secretion;GO:0050796 regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "Q14654-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02549-1", "uniprot_id": [ { "id": "SPTA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P02549", "type": "external" } ], "mass": 280014.0, "length": 2419, "protein_name": "Spectrin alpha chain, erythrocytic 1", "gene_name": "SPTA1", "organism": "Human", "refseq_name": "spectrin alpha chain, erythrocytic 1", "refseq_ac": [ { "id": "NP_003117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003117", "type": "external" } ], "gene_names_uniprotkb": "SPTA1; SPTA", "gene_names_refseq": "EL2; HPP; HS3; SPH3; SPTA1; SPTA", "protein_names_uniprotkb": "Spectrin alpha chain, erythrocytic 1; Erythroid alpha-spectrin", "protein_names_refseq": "alpha-I spectrin; elliptocytosis 2; erythroid alpha-spectrin; spectrin alpha chain, erythrocyte; spectrin alpha chain, erythrocytic 1", "tax_id": 9606, "disease": "hereditary pyropoikilocytosis (Disease Ontology:DOID:0061026); hereditary spherocytosis type 1 (Disease Ontology:DOID:0110916); hereditary spherocytosis type 3 (Disease Ontology:DOID:0110918); sickle cell anemia (Disease Ontology:DOID:10923); hereditary spherocytosis (Disease Ontology:DOID:12971); hereditary elliptocytosis (Disease Ontology:DOID:2373)", "pathway": " (hsa:6708); (R-HSA-375165); (R-HSA-445095); (R-HSA-5673001); (R-HSA-6807878)", "pathway_count": 5, "publication_count": 216, "publication_id_list": "10052452;10318838;10445031;10508167;10559959;10679020;10761932;10869344;10903204;10921873;11027663;11035033;11090077;11136978;11172815;11222639;11285137;11306556;11313946;11461920;11546808;11689559;11702783;11703931;11726511;11748249;12032311;12047556;12070132;12094235;12121613;12196550;12388752;12634853;12672815;12700044;14506247;14654841;14707138;14742712;15037235;15238148;15356145;1541680;1545823;15546878;15616190;15632110;15728195;15813748;15878873;16030262;1631136;1634521;1638030;16597699;16627759;16633337;16684964;16723730;1679439;1680566;1689726;16904324;16912714;16926190;16940185;1716764;17223356;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;17998941;18086915;18182008;18283113;18452278;18524849;18775330;1878597;18809720;18984734;1898771;1898986;19015319;19109418;19164740;19279408;19296914;1957170;19631211;19664994;19758564;19807924;19920141;20357002;20427317;20478380;20637885;21102635;21219331;21372320;21689688;21779497;21779505;21844168;21993244;22013193;22094269;22304919;22569528;22589270;22750304;23103841;23186163;23303910;23443682;23481700;23575685;23839779;2384601;24119662;24806965;24897931;24937142;25219551;25436559;25492864;25576301;2568861;2568862;25781681;26085527;27893789;2794061;2809592;28228285;28778966;28832583;29557506;29786170;3000887;30379171;30779550;31135801;31844290;32157095;32387766;32502341;33392160;33968037;34087483;34201899;34509645;3458204;35051231;35580925;35638908;35961434;36284347;37016817;6148751;6472478;6654895;6654896;7691276;7772539;7809086;7929303;7935463;7972015;7997267;8001155;8018926;8052307;8081008;8128252;8132710;8136282;8193371;8221884;8226774;8253837;8364215;8394845;8486776;8493579;8505331;8620540;8636227;8665852;8710374;8844207;8939933;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9604935;9671725;9687510;9751720;9927426;9990005", "class_list": "", "function": "Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis., [RefSeq, PubMed]; Hereditary elliptocytosis: A novel mutation in the SPTA1 gene and diagnosis after a stroke in paediatric patients. A two-case report., [RefSeq, PubMed]; Identification and characterization of the gene promoter; requires GATA-1- and NF-E2-binding proteins to direct high level expression in erythroid cells in vitro., [RefSeq, PubMed]; Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane., [UniProtKB]; This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]., [RefSeq]; Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing., [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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 156, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q15514;Q5VYL1;Q5VYL2;Q6LDY5", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0051015 actin filament binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0030054 cell junction;GO:0030424 axon", "go_biological_process": "GO:0007015 actin filament organization;GO:0030036 actin cytoskeleton organization;GO:0008360 regulation of cell shape;GO:0051693 actin filament capping", "synthesized_glycan_count": 0, "hit_score": 22.2, "record_id": "P02549-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35318-1", "uniprot_id": [ { "id": "ADML_HUMAN", "url": "https://www.uniprot.org/uniprot/P35318", "type": "external" } ], "mass": 20420.0, "length": 185, "protein_name": "Pro-adrenomedullin", "gene_name": "ADM", "organism": "Human", "refseq_name": "pro-adrenomedullin precursor", "refseq_ac": [ { "id": "NP_001115", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001115", "type": "external" } ], "gene_names_uniprotkb": "ADM; AM", "gene_names_refseq": "ADM; AM; PAMP", "protein_names_uniprotkb": "Pro-adrenomedullin; PAMP; ProAM N-terminal 20 peptide; ProAM-N20", "protein_names_refseq": "preproadrenomedullin; pro-adrenomedullin precursor; pro-adrenomedullin; proadrenomedullin N-20 terminal peptide", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); malignant hypertension (Disease Ontology:DOID:10824); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); obstructive jaundice (Disease Ontology:DOID:13603); toxic shock syndrome (Disease Ontology:DOID:14115); renovascular hypertension (Disease Ontology:DOID:1591); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); hyperinsulinism (Disease Ontology:DOID:2018); glomerulonephritis (Disease Ontology:DOID:2921); peripheral vascular disease (Disease Ontology:DOID:341); brain infarction (Disease Ontology:DOID:3454); insulinoma (Disease Ontology:DOID:3892); ureteral obstruction (Disease Ontology:DOID:5199); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); abdominal aortic aneurysm (Disease Ontology:DOID:7693); diabetic retinopathy (Disease Ontology:DOID:8947); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:133); (R-HSA-418555); (R-HSA-419812); (R-HSA-9856530)", "pathway_count": 4, "publication_count": 140, "publication_id_list": "10.1038/emboj.2013.79;10217420;10225288;10376603;10588445;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;15823563;15951850;16313925;16315141;16687412;16780920;16923326;17168849;17665333;18044684;18577758;18710921;19020623;19105585;19723632;19876791;19929708;20381629;20573757;21036126;2163110;2177866;23153230;23584533;24169554;2417744;24687066;2491850;25297013;25502872;2553411;2553705;25576301;25813380;2608057;26417854;26432182;26559125;26992070;27566546;27797339;2871555;29171818;29242379;29255900;29393594;29443750;29557506;29602314;2985435;30379171;30429286;30833991;31154438;31205027;3127824;31279028;31311674;31399091;31556018;31800988;31844290;31848261;31983287;32145209;32157095;32226383;32266704;32296767;32350084;32497535;32540603;32618402;32636324;32715661;32851644;33049737;33592498;33968037;34087483;34171305;34185709;34499618;34789875;35251023;35580925;36310381;36414882;37104556;37311963;37812053;38253038;6085243;6148938;6609312;7688224;7876172;8074714;8340388;8387282;8514797;8626685;8672451;8700127;9212325;9263355;9417641;9578982;9620797;9651336", "class_list": "", "function": "Adrenomedullin has broad bacteriocidal activity against gram-positive and gram-negative bacteria., [RefSeq, PubMed]; Adrenomedullin/ADM and proadrenomedullin N-20 terminal peptide/PAMP are peptide hormones that act as potent hypotensive and vasodilatator agents (PubMed:8387282, PubMed:9620797). Numerous actions have been reported most related to the physiologic control of fluid and electrolyte homeostasis. In the kidney, ADM is diuretic and natriuretic, and both ADM and PAMP inhibit aldosterone secretion by direct adrenal actions. In pituitary gland, both peptides at physiologically relevant doses inhibit basal ACTH secretion. Both peptides appear to act in brain and pituitary gland to facilitate the loss of plasma volume, actions which complement their hypotensive effects in blood vessels., [UniProtKB, PubMed, PubMed]; Clinical Potential of Adrenomedullin Signaling in the Cardiovascular System. Review article, [RefSeq, PubMed]; Impact of adrenomedullin on mitochondrial respiratory capacity in human adipocyte. Publication Status: Online-Only, [RefSeq, PubMed]; Is adrenomedullin upregulation due to apical periodontitis independent of periodontal disease?, [RefSeq, PubMed]; Overexpression of adrenomedullin (ADM) alleviates the senescence of human dental pulp stem cells by regulating the miR-152/CCNA2 pathway., [RefSeq, PubMed]; Peptide hormone that act as potent hypotensive and vasodilatator agents (PubMed:8387282). ADM function is mediated by the CALCRL-RAMP2 and CALCRL-RAMP3 receptor complexes with ADM showing the highest potency for the CALCRL-RAMP2 complex (PubMed:32296767, PubMed:9620797)., [UniProtKB, PubMed, PubMed, PubMed]; Peptide hormone that act as potent hypotensive and vasodilatator agents by inhibiting catecholamine secretion from sympathetic nerve endings and adrenal chromaffin cells (PubMed:10588445, PubMed:9578982). Acts as a ligand for MRGPRX2 receptor in mast cells (PubMed:15823563, PubMed:34789875)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Peptidylglycine alpha-amidating monooxygenase and adrenomedullin measurement in patients with hepatic cirrhosis., [RefSeq, PubMed]; The protein encoded by this gene is a preprohormone which is cleaved to form two biologically active peptides, adrenomedullin and proadrenomedullin N-terminal 20 peptide. Adrenomedullin is a 52 aa peptide with several functions, including vasodilation, regulation of hormone secretion, promotion of angiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration. [provided by RefSeq, Aug 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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 16, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 23, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "B2R793;D3DQV3;Q6FGW2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005179 hormone activity;GO:0031700 adrenomedullin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0001570 vasculogenesis;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0031623 receptor internalization", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "P35318-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07737-1", "uniprot_id": [ { "id": "PROF1_HUMAN", "url": "https://www.uniprot.org/uniprot/P07737", "type": "external" } ], "mass": 15054.0, "length": 140, "protein_name": "Profilin-1", "gene_name": "PFN1", "organism": "Human", "refseq_name": "profilin-1 isoform 2", "refseq_ac": [ { "id": "NP_005013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005013", "type": "external" } ], "gene_names_uniprotkb": "PFN1", "gene_names_refseq": "ALS18; PFN1", "protein_names_uniprotkb": "Profilin-1; Epididymis tissue protein Li 184a; Profilin I", "protein_names_refseq": "epididymis tissue protein Li 184a; profilin I; profilin-1 isoform 2", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 18 (Disease Ontology:DOID:0060209); pancreatic cancer (Disease Ontology:DOID:1793); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920)", "pathway": " (hsa:5216); (R-HSA-114608); (R-HSA-376176); (R-HSA-4086400); (R-HSA-5663220)", "pathway_count": 5, "publication_count": 239, "publication_id_list": "10.1101/2023.09.13.557529;10102266;10102268;10404225;10411937;10600384;10678165;10698942;10862746;10892742;10958683;11101902;11237011;11358862;11375980;11751577;11779461;12015986;12134165;12429848;12508280;12533515;12577064;12732141;12805219;12839624;1435334;14592989;14630798;14636582;14654843;15006353;15063764;15085137;15143170;15169958;15297306;15501440;15507212;15592455;15608632;15864301;15866170;15936275;15944396;16116452;16280981;16292343;16408927;16439214;16495441;16602827;16622419;16622420;16723543;16943183;16971168;17016520;17021034;17030981;17129783;17130287;17198702;1737036;17373907;17433286;17565045;17627283;17914456;18001770;18097444;18162551;18215320;18256687;18491316;18507432;18512783;18573880;18689676;18719708;18798527;18923426;19350017;19365405;19523939;19530173;19589360;19608861;19615748;19651622;19690332;19815554;20004982;20006983;20030946;20068231;20101212;20305658;20375348;20591975;20736409;20803696;20940229;21081667;21148482;21316585;21397845;21576392;21740066;21868368;22094460;22223895;22275430;22299025;22424782;22479341;22608513;22706990;22773843;22790947;22801503;22905912;23109420;23140633;23144463;23186163;23222643;23328677;23396967;23555621;23640497;23801653;23821037;24190977;24715725;24747440;24914801;25505266;25576301;25645385;25802875;25810538;26154972;26572741;26992070;27452731;27600516;27726376;27846572;27862975;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29314611;29317506;29493099;29508533;29557506;29632711;29786170;29930882;30192525;30315122;30410026;30524438;30573663;30779550;31154438;31217245;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33214551;33298915;33392160;3342873;33537174;3356709;33592498;33633747;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34229054;34331014;34357683;34433824;34509645;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35561310;35580925;36173861;36215666;36241641;36284347;37074911;37217939;37938771;38141770;38430206;38509062;38665916;39302247;6457647;7758455;8268157;8467233;9360613;9649308;9674432;9716412", "class_list": "", "function": "A signaling pathway from ROCK1 to profilin controls polyglutamine protein aggregation., [RefSeq, PubMed]; Actin-binding protein profilin1 is an important determinant of cellular phosphoinositide control., [RefSeq, PubMed]; Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR., [UniProtKB, PubMed]; Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia. Publication Status: Online-Only, [RefSeq, PubMed]; Global acetylome profiling indicates EPA impedes but OA promotes prostate cancer motility through altered acetylation of PFN1 and FLNA., [RefSeq, PubMed]; This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q53Y44", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0003723 RNA binding;GO:0003779 actin binding;GO:0003785 actin monomer binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0098885 modification of postsynaptic actin cytoskeleton;GO:0032233 positive regulation of actin filament bundle assembly;GO:0030036 actin cytoskeleton organization;GO:0050821 protein stabilization;GO:0050804 modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 24.6, "record_id": "P07737-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62942-1", "uniprot_id": [ { "id": "FKB1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P62942", "type": "external" } ], "mass": 11951.0, "length": 108, "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP1A", "gene_name": "FKBP1A", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase FKBP1A isoform a", "refseq_ac": [ { "id": "NP_000792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000792", "type": "external" } ], "gene_names_uniprotkb": "FKBP1A; FKBP12; FKBP1", "gene_names_refseq": "FKBP-12; FKBP-1A; FKBP12; FKBP1A; FKBP1; PKC12; PKCI2; PPIASE", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase FKBP1A; 12 kDa FK506-binding protein; 12 kDa FKBP; 5.2.1.8; Calstabin-1; FK506-binding protein 1A; FKBP-12; FKBP-1A; Immunophilin FKBP12; PPIase FKBP1A; Rotamase", "protein_names_refseq": "12 kDa FK506-binding protein; 12 kDa FKBP; FK506 binding protein 1A, 12kDa; FK506 binding protein12; FK506-binding protein 12; FK506-binding protein 1A; FK506-binding protein 1; FK506-binding protein, T-cell, 12-kD; FKBP12-Exip3; PPIase FKBP1A; calstabin-1; immunophilin FKBP12; peptidyl-prolyl cis-trans isomerase FKBP1A isoform a; peptidyl-prolyl cis-trans isomerase FKBP1A; protein kinase C inhibitor 2; rotamase", "tax_id": 9606, "disease": "Barth syndrome (Disease Ontology:DOID:0050476); Parkinsonism (Disease Ontology:DOID:0080855); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); prediabetes syndrome (Disease Ontology:DOID:11716); osteopetrosis (Disease Ontology:DOID:13533); anemia (Disease Ontology:DOID:2355)", "pathway": " (hsa:2280); (R-HSA-166208); (R-HSA-2025928); (R-HSA-2173789); (R-HSA-2173791); (R-HSA-3656535); (R-HSA-9679191); (R-HSA-9692916)", "pathway_count": 8, "publication_count": 153, "publication_id_list": "10025408;10087012;10358090;10654941;10656803;10860980;10877843;11030334;11100470;11141505;11231878;11237011;11390472;11447115;12150926;12482908;12665801;12742462;12953056;1333888;1375171;14657501;15208624;15314020;15350224;15564041;15761148;15809305;16115318;16522641;16720724;1695378;1696686;1701173;17035307;1709301;1709302;1709363;1715244;1716149;17270291;17412287;17596301;17662961;17761676;18469808;19380580;19398035;19415658;19720988;20068231;20207738;20223979;20625381;21258369;21358634;21602892;22046132;22100703;22253733;22312431;22401777;22552008;22814904;23290524;23483519;23525077;23641311;24272870;2445721;24509444;24584101;24622840;24715725;2477715;24854014;25135833;25502872;25764917;25801024;25907116;26002965;26320399;26378163;27164085;27203180;28148787;28228285;28425720;29242379;29294448;29314611;29393594;29508533;29557506;29632046;29786170;29945920;30185776;30192525;30201761;30294901;31034780;31048504;31222486;31231549;31844290;31848261;32350084;32488085;32728199;32938616;32983136;33060197;33141586;33214551;34019948;34357683;35154160;35251023;36241641;36361587;36499275;37625838;37938771;38570626;38665916;38725843;7529739;7657645;7678431;7682113;7693660;7737999;7823948;8047140;8242743;8576111;8631904;8684469;8799126;8947046;8955134;8980228;9106655;9233797;9311995;9312192;9346966;9721431;9727000;9865696;9989503", "class_list": "", "function": "Circ_0088212 Targeting miR-576-5p/FKBP1A Axis Inhibits Osteosarcoma Progression., [RefSeq, PubMed]; HMGA1 sensitizes esophageal squamous cell carcinoma to mTOR inhibitors through the ETS1-FKBP12 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing TGF-beta receptor activation in absence of ligand. Recruits SMAD7 to ACVR1B which prevents the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The Prognostic Significance of FKBP1A and Its Related Immune Infiltration in Liver Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The high FKBP1A expression in WBCs as a potential screening biomarker for pancreatic cancer. 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. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]., [RefSeq]; Upregulated FKBP1A Suppresses Glioblastoma Cell Growth via Apoptosis Pathway. 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, "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": 1, "reported_mutagensis": 0, "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": "D3DVW6;P20071;Q4VC47;Q6FGD9;Q6LEU3;Q9H103;Q9H566", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "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": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" } ], "go_molecular_function": "GO:0030547 signaling receptor inhibitor activity;GO:0005246 calcium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0005160 transforming growth factor beta receptor binding;GO:0005527 macrolide binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0030018 Z disc;GO:0016529 sarcoplasmic reticulum", "go_biological_process": "GO:1990000 amyloid fibril formation;GO:0042110 T cell activation;GO:1902991 regulation of amyloid precursor protein catabolic process;GO:0050776 regulation of immune response;GO:0032880 regulation of protein localization", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "P62942-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUX7-1", "uniprot_id": [ { "id": "AEBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUX7", "type": "external" } ], "mass": 130929.0, "length": 1158, "protein_name": "Adipocyte enhancer-binding protein 1", "gene_name": "AEBP1", "organism": "Human", "refseq_name": "adipocyte enhancer-binding protein 1 precursor", "refseq_ac": [ { "id": "NP_001120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120", "type": "external" } ], "gene_names_uniprotkb": "AEBP1; ACLP", "gene_names_refseq": "ACLP; AEBP1", "protein_names_uniprotkb": "Adipocyte enhancer-binding protein 1; AE-binding protein 1; Aortic carboxypeptidase-like protein", "protein_names_refseq": "adipocyte enhancer-binding protein 1 precursor; adipocyte enhancer-binding protein 1; aortic carboxypeptidase-like protein", "tax_id": 9606, "disease": "Ehlers-Danlos syndrome classic-like 2 (Disease Ontology:DOID:0080732)", "pathway": " (hsa:165)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11237011;11438679;15654748;19159218;19664995;20934997;22898188;24190977;25502872;25576301;25645385;25892735;26375851;26992070;27023906;27397612;27618915;27846572;28834231;28904123;29242379;29557506;29606302;29632711;29671580;29741879;29786170;29789417;30192525;30429286;30459171;31020640;31154438;31844290;31848261;32157095;32350084;32488085;32502341;32897882;33392160;33936100;34185709;35051231;35251023;35494241;35580925;35732215;36284347;37074911;37917183;38237535;38568322;38684171;8920928;9624159", "class_list": "", "function": "ACLP promotes activation of cancer-associated fibroblasts and tumor metastasis via ACLP-PPARgamma-ACLP feedback loop in pancreatic cancer., [RefSeq, PubMed]; AEBP1 promotes papillary thyroid cancer progression by activating BMP4 signaling., [RefSeq, PubMed]; AEBP1 upregulation contributes to cervical cancer progression by facilitating cell proliferation, migration, and invasion., [RefSeq, PubMed]; As a positive regulator of collagen fibrillogenesis, it is probably involved in the organization and remodeling of the extracellular matrix., [UniProtKB, PubMed]; Dysregulated AEBP1 and COLEC12 Genes in Late-Onset Alzheimer's Disease: Insights from Brain Cortex and Peripheral Blood Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; May positively regulate MAP-kinase activity in adipocytes, leading to enhanced adipocyte proliferation and reduced adipocyte differentiation. May also positively regulate NF-kappa-B activity in macrophages by promoting the phosphorylation and subsequent degradation of I-kappa-B-alpha (NFKBIA), leading to enhanced macrophage inflammatory responsiveness. Can act as a transcriptional repressor., [UniProtKB, UniProtKB]; Most ACLP knockout mice die perinatally due to abdominal issues., [RefSeq, PubMed]; Single-cell transcriptomics analysis of proliferative diabetic retinopathy fibrovascular membranes reveals AEBP1 as fibrogenesis modulator. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 61, "disease_count": 1, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "Q14113;Q59ER7;Q6ZSC7;Q7KZ79", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0008270 zinc ion binding;GO:0004180 carboxypeptidase activity;GO:0005518 collagen binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031012 extracellular matrix", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006508 proteolysis;GO:0006355 regulation of DNA-templated transcription;GO:1904026 regulation of collagen fibril organization", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q8IUX7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P37023-1", "uniprot_id": [ { "id": "ACVL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P37023", "type": "external" } ], "mass": 56124.0, "length": 503, "protein_name": "Activin receptor type-1-like", "gene_name": "ACVRL1", "organism": "Human", "refseq_name": "activin receptor type-1-like isoform 1 precursor", "refseq_ac": [ { "id": "NP_000011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000011", "type": "external" } ], "gene_names_uniprotkb": "ACVRL1; ACVRLK1; ALK1", "gene_names_refseq": "ACVRL1; ACVRLK1; ALK-1; ALK1; HHT2; HHT; ORW2; SKR3; TSR-I", "protein_names_uniprotkb": "Activin receptor type-1-like; 2.7.11.30; ALK-1; Activin receptor-like kinase 1; SKR3; Serine/threonine-protein kinase receptor R3; TGF-B superfamily receptor type I; TSR-I", "protein_names_refseq": "TGF-B superfamily receptor type I; activin A receptor type II-like 1; activin A receptor type IL; activin A receptor, type II-like kinase 1; activin receptor type-1-like isoform 1 precursor; activin receptor type-1-like; serine/threonine-protein kinase receptor R3", "tax_id": 9606, "disease": "arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); arteriovenous malformation (Disease Ontology:DOID:11294); hereditary hemorrhagic telangiectasia (Disease Ontology:DOID:1270); fibrodysplasia ossificans progressiva (Disease Ontology:DOID:13374); transient cerebral ischemia (Disease Ontology:DOID:224); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:94); (R-HSA-201451)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10458166;10587654;10694922;10712517;10767348;11016919;11121043;11158580;11170071;11237011;11278251;11484689;11509558;11571290;11714695;11779505;12151385;12519765;12592392;12821673;12857866;14684682;15024723;15712270;16525724;16672363;16752392;17029022;17068149;17074750;17311849;17356069;20414677;21791611;22718755;22799562;24936649;25576301;26176610;28832583;29557506;30833945;31154438;31530632;31844290;32157095;32938616;32983136;33298915;33592498;33912179;35051231;35318648;35580925;35620871;37743483;37787089;38294582;7644468;7791754;8119126;8242742;8397373;8640225;8653785;8893010;9136927;9245985;9436979", "class_list": "", "function": "ACVRL1 drives resistance to multitarget tyrosine kinase inhibitors in colorectal cancer by promoting USP15-mediated GPX2 stabilization. Publication Status: Online-Only, [RefSeq, PubMed]; Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development., [RefSeq, PubMed]; Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago., [RefSeq, PubMed]; Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension donors., [RefSeq, PubMed]; This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]., [RefSeq]; Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. 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. May bind activin as well., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, 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, "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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NGA8", "ec_number_list": [ { "id": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0004675 transmembrane receptor protein serine/threonine kinase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070724 BMP receptor complex;GO:0016020 membrane", "go_biological_process": "GO:0030858 positive regulation of epithelial cell differentiation;GO:0001525 angiogenesis;GO:0007162 negative regulation of cell adhesion;GO:0007165 signal transduction;GO:0007507 heart development", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P37023-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P68104-1", "uniprot_id": [ { "id": "EF1A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P68104", "type": "external" } ], "mass": 50141.0, "length": 462, "protein_name": "Elongation factor 1-alpha 1", "gene_name": "EEF1A1", "organism": "Human", "refseq_name": "elongation factor 1-alpha 1", "refseq_ac": [ { "id": "NP_001393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001393", "type": "external" } ], "gene_names_uniprotkb": "EEF1A1; EEF1A; EF1A; LENG7", "gene_names_refseq": "CCS-3; CCS3; EE1A1; EEF-1; EEF1A1; EEF1A; EF-Tu; EF1A1; EF1A; EF1alpha1; GRAF-1EF; LENG7; PTI1; eEF1A-1", "protein_names_uniprotkb": "Elongation factor 1-alpha 1; 3.6.5.-; EF-1-alpha-1; EF-Tu; Elongation factor Tu; Eukaryotic elongation factor 1 A-1; Leukocyte receptor cluster member 7; eEF1A-1", "protein_names_refseq": "CTCL tumor antigen; EF-1-alpha-1; EF1a-like protein; cervical cancer suppressor 3; elongation factor 1 alpha subunit; elongation factor 1-alpha 1; elongation factor Tu; epididymis secretory sperm binding protein; eukaryotic elongation factor 1 A-1; eukaryotic translation elongation factor 1 alpha 1-like 14; glucocorticoid receptor AF-1 specific elongation factor; leukocyte receptor cluster (LRC) member 7; leukocyte receptor cluster member 7; prostate tumor-inducing protein 1", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 33 (Disease Ontology:DOID:0080463); dilated cardiomyopathy (Disease Ontology:DOID:12930); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:1915); (R-HSA-156842); (R-HSA-156902); (R-HSA-3371511); (R-HSA-6798695); (R-HSA-8876725); (R-HSA-9613829); (R-HSA-9735869)", "pathway_count": 8, "publication_count": 189, "publication_id_list": "10.1101/2023.09.13.557529;10233671;10368288;11082038;11237011;12426392;12426393;12939341;15702990;16115862;16118227;16139798;16408927;16497976;16912115;17016520;17177976;17287340;17595531;17785525;17980171;18029264;18083107;18263879;18369606;18448518;18512783;18644871;18691976;18991276;19158340;19531498;19838190;20068231;20305658;20797626;20832312;20964681;21282471;21418524;21740066;21776411;2183196;22121020;22174690;22424782;22645359;22855488;23035226;23328677;23349634;23555621;23650620;23719902;24190977;24714562;24715725;25144183;25231979;25416781;25432065;25436588;25502872;25505266;2564392;2569467;25810538;26118642;26154972;26374642;26497934;26545399;26593721;26651998;26853435;26992070;27397612;27726376;27846572;27862975;28108655;28467828;28510447;28520920;28832583;28904123;29242379;29437277;29493099;29626215;30143613;30315122;30410026;30429286;30444036;30484775;30573663;30612740;30626607;30779550;30833945;31217245;31222486;31373491;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32162841;32350084;32357974;32387766;32488085;32938616;32983136;33043033;33091337;33123756;33214551;33298915;33392160;3346208;33495306;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34357683;34433824;34509645;34561969;34932366;35008409;35051231;3512269;35138101;35154160;35251023;35318648;35526384;35561310;35580925;36010968;36123449;36215666;36240223;36241641;36264623;36284347;36638793;37074911;37217939;37938771;38220433;38272231;38360885;38665916;38965582;39302247;39339978;39349455;3960725;40596516;6568109;7734418;7890750;8065924;8407925;8455624;8606061;8650580;8662539;8692836;9038169;9151685;9677419;9727490", "class_list": "", "function": "(Microbial infection) Required for the translation of viral proteins and viral replication during human coronavirus SARS-CoV-2 infection., [UniProtKB, PubMed]; Chp1 is a dedicated chaperone at the ribosome that safeguards eEF1A biogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Elongation factor 1A1 regulates metabolic substrate preference in mammalian cells., [RefSeq, PubMed]; N-Acetylcysteine Inhibits Coxsackievirus B3 Replication by Downregulating Eukaryotic Translation Elongation Factor 1 Alpha 1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq, Jul 2008]., [RefSeq]; This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Translation elongation factor that catalyzes the GTP-dependent binding of aminoacyl-tRNA (aa-tRNA) to the A-site of ribosomes during the elongation phase of protein synthesis (PubMed:26593721, PubMed:26651998, PubMed:36123449, PubMed:36264623, PubMed:36638793). Base pairing between the mRNA codon and the aa-tRNA anticodon promotes GTP hydrolysis, releasing the aa-tRNA from EEF1A1 and allowing its accommodation into the ribosome (PubMed:26593721, PubMed:26651998, PubMed:36123449, PubMed:36264623, PubMed:36638793). The growing protein chain is subsequently transferred from the P-site peptidyl tRNA to the A-site aa-tRNA, extending it by one amino acid through ribosome-catalyzed peptide bond formation (PubMed:26593721, PubMed:26651998, PubMed:36123449, PubMed:36264623). Also plays a role in the positive regulation of IFNG transcription in T-helper 1 cells as part of an IFNG promoter-binding complex with TXK and PARP1 (PubMed:17177976). Also plays a role in cytoskeleton organization by promoting actin bundling (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; UCHL3 promotes hepatocellular carcinoma progression by stabilizing EEF1A1 through deubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; Understanding functions of eEF1 translation elongation factors beyond translation. A proteomic approach., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "P04719;P04720;Q6IQ15", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "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", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "2.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.7", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", 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"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.22.27", 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"https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0019209 kinase activator activity;GO:0060090 molecular adaptor activity;GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0044829 host-mediated activation of viral genome replication;GO:0006351 DNA-templated transcription;GO:0006412 translation;GO:0071364 cellular response to epidermal growth factor stimulus;GO:1904714 regulation of chaperone-mediated autophagy", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "P68104-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11171-1", "uniprot_id": [ { "id": "EPB41_HUMAN", "url": "https://www.uniprot.org/uniprot/P11171", "type": "external" } ], "mass": 97017.0, "length": 864, "protein_name": "Protein 4.1", "gene_name": "EPB41", "organism": "Human", "refseq_name": "protein 4.1 isoform 1", "refseq_ac": [ { "id": "NP_001159477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159477", "type": "external" } ], "gene_names_uniprotkb": "EPB41; E41P", "gene_names_refseq": "4.1R; EL1; EPB41; HE", "protein_names_uniprotkb": "Protein 4.1; 4.1R; Band 4.1; EPB4.1; Erythrocyte membrane protein band 4.1; P4.1", "protein_names_refseq": "EPB4.1; P4.1; elliptocytosis 1, RH-linked; erythrocyte surface protein band 4.1; protein 4.1 isoform 1; protein 4.1", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); cancer (Disease Ontology:DOID:162); hereditary elliptocytosis (Disease Ontology:DOID:2373); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2035); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 114, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10692436;11003675;11017195;11237011;11432737;11604393;12427749;15118850;15525677;15540461;16242404;1647028;16624946;16846852;17897391;18669648;18812509;18829961;18984734;20064387;20064388;20068231;2022644;20519524;21282647;21406692;2171679;23186163;23584533;23870127;24275569;24715725;25378172;25576301;25810538;25880248;26154972;26811146;26992070;27600516;27846572;27862975;2808371;28657654;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632711;30315122;30410026;30484775;30524438;30779550;30784271;31092671;31154438;3117790;31530632;31844290;31848261;3194408;31998317;32119511;32157095;32161166;3223413;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33537174;33691108;3375238;33912179;33936100;33968037;33981976;34171305;34185709;34211107;34509645;3467321;35051231;35138101;35251023;3531202;35318648;35561310;35580925;36010968;36215666;36241641;36284347;7695896;7736595;7937897;8576240;9069287;9808458;9927700", "class_list": "", "function": "Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127)., [UniProtKB, PubMed]; The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[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, "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": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 28, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 5, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B1ALH8;B1ALH9;D3DPM9;D3DPN0;P11176;Q14245;Q5TB35;Q5VXN8;Q8IXV9;Q9Y578;Q9Y579", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0005516 calmodulin binding;GO:0051219 phosphoprotein binding;GO:0030507 spectrin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0051301 cell division;GO:0051924 regulation of calcium ion transport;GO:0030036 actin cytoskeleton organization;GO:0031032 actomyosin structure organization;GO:0030866 cortical actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "P11171-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32121-1", "uniprot_id": [ { "id": "ARRB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P32121", "type": "external" } ], "mass": 46106.0, "length": 409, "protein_name": "Beta-arrestin-2", "gene_name": "ARRB2", "organism": "Human", "refseq_name": "beta-arrestin-2 isoform 3", "refseq_ac": [ { "id": "NP_001244257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244257", "type": "external" } ], "gene_names_uniprotkb": "ARRB2; ARB2; ARR2", "gene_names_refseq": "ARB2; ARR2; ARRB2; BARR2", "protein_names_uniprotkb": "Beta-arrestin-2; Arrestin beta-2; Non-visual arrestin-3", "protein_names_refseq": "arrestin 3; beta-arrestin-2 isoform 3; beta-arrestin-2; non-visual arrestin-3", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); drug psychosis (Disease Ontology:DOID:1742); opiate dependence (Disease Ontology:DOID:2559); glioblastoma (Disease Ontology:DOID:3068); brain infarction (Disease Ontology:DOID:3454); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684); type 2 diabetes mellitus (Disease Ontology:DOID:9352); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:409); (R-HSA-2122948); (R-HSA-418555); (R-HSA-456926); (R-HSA-5099900); (R-HSA-5635838); (R-HSA-5674135); (R-HSA-5689880); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9839389)", "pathway_count": 17, "publication_count": 580, "publication_id_list": 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346876;9417641;9427626;9428629;9462510;9590294;9604939;9618465;9620803;9635431;9651336;9651681;9723620;9733512;9736607;9812899;9819428;9858547;9924018", "class_list": "", "function": "Arrestin beta-2 deficiency exacerbates periodontal inflammation by mediating activating transcription factor 6 activation and abnormal remodelling of the extracellular matrix., [RefSeq, PubMed]; Functions in regulating agonist-mediated G protein-coupled receptor (GPCR) signaling by mediating both receptor desensitization and resensitization processes (PubMed:16179383, PubMed:37209686, PubMed:38175886, PubMed:40384633). During homologous desensitization, beta-arrestins bind to the GPCR-phosphorylated receptor and sterically preclude its coupling to the cognate G protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation (PubMed:16179383, PubMed:37209686, PubMed:38175886, PubMed:40384633). The beta-arrestins target many receptors for internalization by acting as endocytic adapters (CLASPs, clathrin-associated sorting proteins) and recruiting the GPRCs to the adapter protein 2 complex 2 (AP-2) in clathrin-coated pits (CCPs). However, the extent of beta-arrestin involvement appears to vary significantly depending on the receptor, agonist and cell type. Internalized arrestin-receptor complexes traffic to intracellular endosomes, where they remain uncoupled from G proteins. Two different modes of arrestin-mediated internalization occur. Class A receptors, like ADRB2, OPRM1, ENDRA, D1AR and ADRA1B dissociate from beta-arrestin at or near the plasma membrane and undergo rapid recycling. Class B receptors, like AVPR2, AGTR1, NTSR1, TRHR and TACR1 internalize as a complex with arrestin and traffic with it to endosomal vesicles, presumably as desensitized receptors, for extended periods of time. Receptor resensitization then requires that receptor-bound arrestin is removed so that the receptor can be dephosphorylated and returned to the plasma membrane. Mediates endocytosis of CCR7 following ligation of CCL19 but not CCL21. Involved in internalization of P2RY1, P2RY4, P2RY6 and P2RY11 and ATP-stimulated internalization of P2RY2. Involved in phosphorylation-dependent internalization of OPRD1 and subsequent recycling or degradation. Involved in ubiquitination of IGF1R. Beta-arrestins function as multivalent adapter proteins that can switch the GPCR from a G protein signaling mode that transmits short-lived signals from the plasma membrane via small molecule second messengers and ion channels to a beta-arrestin signaling mode that transmits a distinct set of signals that are initiated as the receptor internalizes and transits the intracellular compartment. Acts as a signaling scaffold for MAPK pathways such as MAPK1/3 (ERK1/2) and MAPK10 (JNK3). ERK1/2 and JNK3 activated by the beta-arrestin scaffold are largely excluded from the nucleus and confined to cytoplasmic locations such as endocytic vesicles, also called beta-arrestin signalosomes. Acts as a signaling scaffold for the AKT1 pathway. GPCRs for which the beta-arrestin-mediated signaling relies on both ARRB1 and ARRB2 (codependent regulation) include ADRB2, F2RL1 and PTH1R. For some GPCRs the beta-arrestin-mediated signaling relies on either ARRB1 or ARRB2 and is inhibited by the other respective beta-arrestin form (reciprocal regulation). Increases ERK1/2 signaling in AGTR1- and AVPR2-mediated activation (reciprocal regulation). Involved in CCR7-mediated ERK1/2 signaling involving ligand CCL19. Is involved in type-1A angiotensin II receptor/AGTR1-mediated ERK activity. Is involved in type-1A angiotensin II receptor/AGTR1-mediated MAPK10 activity. Is involved in dopamine-stimulated AKT1 activity in the striatum by disrupting the association of AKT1 with its negative regulator PP2A. Involved in AGTR1-mediated chemotaxis. Appears to function as signaling scaffold involved in regulation of MIP-1-beta-stimulated CCR5-dependent chemotaxis. Involved in attenuation of NF-kappa-B-dependent transcription in response to GPCR or cytokine stimulation by interacting with and stabilizing CHUK. Suppresses UV-induced NF-kappa-B-dependent activation by interacting with CHUK. The function is promoted by stimulation of ADRB2 and dephosphorylation of ARRB2. Involved in p53/TP53-mediated apoptosis by regulating MDM2 and reducing the MDM2-mediated degradation of p53/TP53. May serve as nuclear messenger for GPCRs. Upon stimulation of OR1D2, may be involved in regulation of gene expression during the early processes of fertilization. Also involved in regulation of receptors other than GPCRs. Involved in endocytosis of TGFBR2 and TGFBR3 and down-regulates TGF-beta signaling such as NF-kappa-B activation. Involved in endocytosis of low-density lipoprotein receptor/LDLR. Involved in both localization to primary cilium and endocytosis of smoothened (SMO) in a GRK2-dependent process (PubMed:15618519). Involved in endocytosis of SLC9A5. Involved in endocytosis of ENG and subsequent TGF-beta-mediated ERK activation and migration of epithelial cells. Involved in Toll-like receptor and IL-1 receptor signaling through the interaction with TRAF6 which prevents TRAF6 autoubiquitination and oligomerization required for activation of NF-kappa-B and JUN (PubMed:26839314). Involved in insulin resistance by acting as insulin-induced signaling scaffold for SRC, AKT1 and INSR. Involved in regulation of inhibitory signaling of natural killer cells by recruiting PTPN6 and PTPN11 to KIR2DL1. Involved in IL8-mediated granule release in neutrophils. Involved in the internalization of the atypical chemokine receptor ACKR3. Acts as an adapter protein coupling FFAR4 receptor to specific downstream signaling pathways, as well as mediating receptor endocytosis (PubMed:22282525, PubMed:23809162). During the activation step of NLRP3 inflammasome, directly associates with NLRP3 leading to inhibition of pro-inflammatory cytokine release and inhibition of inflammation (PubMed:23809162)., [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, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 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, "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": 6, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DLW0;B5B0C0;B7WPL3;D3DTK2;H0Y688;Q0Z8D3;Q2PP19;Q6ICT3;Q8N7Y2;Q9UEQ6", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005102 signaling receptor binding;GO:0019899 enzyme binding;GO:0030674 protein-macromolecule adaptor activity;GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0015031 protein transport;GO:0031623 receptor internalization;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0060079 excitatory postsynaptic potential", "synthesized_glycan_count": 0, "hit_score": 58.3, "record_id": "P32121-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06730-1", "uniprot_id": [ { "id": "IF4E_HUMAN", "url": "https://www.uniprot.org/uniprot/P06730", "type": "external" } ], "mass": 25097.0, "length": 217, "protein_name": "Eukaryotic translation initiation factor 4E", "gene_name": "EIF4E", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 4E isoform 4", "refseq_ac": [ { "id": "NP_001317946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317946", "type": "external" } ], "gene_names_uniprotkb": "EIF4E; EIF4EL1; EIF4F", "gene_names_refseq": "AUTS19; CBP; EIF4E1; EIF4EL1; EIF4E; EIF4F; eIF-4E", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 4E; eIF-4E; eIF-4F 25 kDa subunit; eIF4E; mRNA cap-binding protein", "protein_names_refseq": "eIF-4F 25 kDa subunit; eukaryotic translation initiation factor 4E isoform 4; eukaryotic translation initiation factor 4E-like 1; mRNA cap-binding protein", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autistic disorder (Disease Ontology:DOID:12849); candidiasis (Disease Ontology:DOID:1508); vascular dementia (Disease Ontology:DOID:8725); autism, susceptibility to, 19 (MONDO:MONDO:0014041)", "pathway": " (hsa:1977); (R-HSA-1169408); (R-HSA-156827); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-166208); (R-HSA-429947); (R-HSA-72649); (R-HSA-72662); (R-HSA-72702); (R-HSA-72706); (R-HSA-9820841); (R-HSA-9820865); (R-HSA-9918487)", "pathway_count": 15, "publication_count": 287, "publication_id_list": "10022874;10364207;10637334;10648556;10654941;10659855;10856257;10882133;10891393;1095581;11014198;11018020;11095724;11112322;11112487;11154262;11157743;11237011;11283721;11368785;11408474;11423616;11463832;11500381;11575918;11606200;11723111;11788588;11879179;11889047;12003494;12138083;12150926;12525615;12554669;12554876;12582176;12588972;12691746;12742462;12890645;12897141;12975586;1355481;1384058;14567916;14583602;14749774;15120988;15122903;15131269;15248766;15314020;15475613;15485925;15574771;15601771;15657436;15702989;15809305;1587843;16009940;16112642;16122702;16139798;16141059;16157702;16271312;16284618;16341674;16352599;16407192;16428300;16540463;16699525;16699599;16715065;1672854;16775314;16815975;16872604;16914094;16982703;17036047;17052452;1715244;17245413;17289916;17317185;17376915;17595167;17631896;17667941;17724079;18287095;18305167;18365020;1856230;18583345;18625844;19073728;19125153;19239894;19262567;19270716;19433856;19494120;19556253;19558367;19651622;19664995;19714237;19934253;1993647;20129943;20133869;2017161;20212144;20219937;20224576;20308324;20385878;20430826;20616046;20630994;20664001;20686366;20722422;20823271;20927323;2122455;21233335;21602892;21635931;21661078;21837706;21883093;21949767;22392765;22578813;22684010;22732409;23186163;23471078;23582887;23804756;23814182;23824493;23901100;23991149;24207126;24335285;24504069;24551240;24714562;25193863;25277198;25403230;25456498;25480299;25533957;25535978;25561727;25645385;25702871;25880248;25915158;25923732;26041884;26097864;26154972;26268528;26317997;26735137;26861281;26882068;26992070;27117702;27237224;27462781;27862975;27926520;28325843;28386346;28487484;28733330;28745319;28904123;29117567;291969;29269484;29358667;29437277;29557506;29581834;29683667;29987188;30315122;30388805;30410026;30568303;30677218;31042468;31113936;31118010;3112145;31217245;31258849;31398271;31712417;31844290;31848261;31903169;31949502;32157095;32350084;32357974;32387766;32502391;32535199;32890404;32897882;32938616;32983136;33014898;33092114;33116125;33141586;33298915;33439620;33537174;33592498;33717175;33968037;33971490;33981976;34012509;34019948;34087483;34171305;34405274;34509645;34561969;34647228;3469651;34696522;34725712;34932366;35051231;35580925;35585045;35877722;36010968;36241641;36284347;36843541;37938771;38177122;38665916;40596516;40914422;429297;592398;592399;641056;6853548;7000367;7559393;7590282;7665584;7782323;7782349;7935836;8449919;8505316;8521827;8662663;8943342;9045610;9099687;9155017;9525617;9642105;9721431;9732867;9857202;9878069", "class_list": "", "function": "Acts in the cytoplasm to initiate and regulate protein synthesis and is required in the nucleus for export of a subset of mRNAs from the nucleus to the cytoplasm which promotes processes such as RNA capping, processing and splicing (PubMed:11606200, PubMed:22578813, PubMed:22684010, PubMed:24335285, PubMed:29987188). Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome (By similarity). This protein recognizes and binds the 7-methylguanosine (m7G)-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structures (PubMed:16271312, PubMed:22578813). Together with EIF4G1, antagonizes the scanning promoted by EIF1-EIF4G1 and is required for TISU translation, a process where the TISU element recognition makes scanning unnecessary (PubMed:29987188). In addition to its role in translation initiation, also acts as a regulator of translation and stability in the cytoplasm (PubMed:24335285). Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression: in the complex, EIF4E mediates the binding to the mRNA cap (By similarity). Component of a multiprotein complex that sequesters and represses translation of proneurogenic factors during neurogenesis (By similarity). In P-bodies, component of a complex that mediates the storage of translationally inactive mRNAs in the cytoplasm and prevents their degradation (PubMed:24335285). May play an important role in spermatogenesis through translational regulation of stage-specific mRNAs during germ cell development (By similarity). As well as its roles in translation, also involved in mRNA nucleocytoplasmic transport (By similarity). Its role in mRNA export from the nucleus to the cytoplasm relies on its ability to bind the m7G cap of RNAs and on the presence of the 50-nucleotide EIF4E sensitivity element (4ESE) in the 3'UTR of sensitive transcripts (By similarity). Interaction with the 4ESE is mediated by LRPPRC which binds simultaneously to both EIF4E and the 4ESE, thereby acting as a platform for assembly for the RNA export complex (By similarity). EIF4E-dependent mRNA export is independent of ongoing protein or RNA synthesis and is also NFX1-independent but is XPO1-dependent with LRPPRC interacting with XPO1 to form an EIF4E-dependent mRNA export complex (By similarity). Alters the composition of the cytoplasmic face of the nuclear pore to promote RNA export by reducing RANBP2 expression, relocalizing nucleoporin NUP214 and increasing expression of RANBP1 and RNA export factors DDX19 and GLE1 (By similarity). Promotes the nuclear export of cyclin CCND1 mRNA (By similarity). Promotes the nuclear export of NOS2/iNOS mRNA (PubMed:23471078). Promotes the nuclear export of MDM2 mRNA (PubMed:22684010). Promotes the export of additional mRNAs, including others involved in the cell cycle (By similarity). In the nucleus, binds to capped splice factor-encoding mRNAs and stimulates their nuclear export to enhance splice factor production by increasing their cytoplasmic availability to the translation machinery (By similarity). May also regulate splicing through interaction with the spliceosome in an RNA and m7G cap-dependent manner (By similarity). Also binds to some pre-mRNAs and may play a role in their recruitment to the spliceosome (By similarity). Promotes steady-state capping of a subset of coding and non-coding RNAs by mediating nuclear export of capping machinery mRNAs including RNMT, RNGTT and RAMAC to enhance their translation (By similarity). Stimulates mRNA 3'-end processing by promoting the expression of several core cleavage complex factors required for mRNA cleavage and polyadenylation, and may also have a direct effect through its interaction with the CPSF3 cleavage enzyme (By similarity). Rescues cells from apoptosis by promoting activation of serine/threonine-protein kinase AKT1 through mRNA export of NBS1 which potentiates AKT1 phosphorylation and also through mRNA export of AKT1 effectors, allowing for increased production of these proteins (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Crystallographic and mass spectrometric characterisation of eIF4E with N7-alkylated cap derivatives. Review article, [RefSeq, PubMed]; Human eIF4E promotes mRNA restructuring by stimulating eIF4A helicase activity., [RefSeq, PubMed]; Neural precursors are transcriptionally primed to generate neurons, but an eIF4E/4E-T complex sequesters and represses translation of proneurogenic proteins to determine appropriate neurogenesis., [RefSeq, PubMed]; The crystal structures of the full-length human eukaryotic initiation factor (eIF) 4E complexed with two mRNA cap analogues, [RefSeq, PubMed]; The findings suggest further that eIF4E sumoylation is a new fundamental regulatory mechanism of protein synthesis and might be important in promoting human cancers., [RefSeq, PubMed]; The protein encoded by this gene is a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5' end of messenger RNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the 5'-cap structure. Association of this protein with the 4F complex is the rate-limiting step in translation initiation. This gene acts as a proto-oncogene, and its expression and activation is associated with transformation and tumorigenesis. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 2, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7Z6V1;D6RCQ6;Q96E95", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019899 enzyme binding;GO:0000340 RNA 7-methylguanosine cap binding;GO:0003743 translation initiation factor activity;GO:0098808 mRNA cap binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006406 mRNA export from nucleus;GO:0006417 regulation of translation;GO:0045931 positive regulation of mitotic cell cycle;GO:0006413 translational initiation;GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 29.1, "record_id": "P06730-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02241-1", "uniprot_id": [ { "id": "KIF23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02241", "type": "external" } ], "mass": 110059.0, "length": 960, "protein_name": "Kinesin-like protein KIF23", "gene_name": "KIF23", "organism": "Human", "refseq_name": "kinesin-like protein KIF23 isoform 2", "refseq_ac": [ { "id": "NP_004847", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004847", "type": "external" } ], "gene_names_uniprotkb": "KIF23; KNSL5; MKLP1", "gene_names_refseq": "CDA3; CDAIII; CDAN3A; CDAN3; CHO1; KIF23; KNSL5; MKLP-1; MKLP1", "protein_names_uniprotkb": "Kinesin-like protein KIF23; Kinesin-like protein 5; Mitotic kinesin-like protein 1", "protein_names_refseq": "congenital dyserythropoietic anemia, type III; kinesin-like 5 (mitotic kinesin-like protein 1); kinesin-like protein KIF23 isoform 2; kinesin-like protein KIF23", "tax_id": 9606, "disease": "congenital dyserythropoietic anemia type IIIa (Disease Ontology:DOID:0111399)", "pathway": " (hsa:9493); (R-HSA-2132295); (R-HSA-6811434); (R-HSA-68884); (R-HSA-983189)", "pathway_count": 5, "publication_count": 245, "publication_id_list": "10036229;10052452;10064083;10072072;10318838;10445031;10480952;10540230;10559959;10593899;10631941;10631952;10639150;10748235;10761932;10809954;10921873;11172815;11237011;11493604;11529500;11684289;11689559;11703931;11726511;11739780;11748249;11782313;11790530;11813165;11853874;12047556;12070132;12078484;12198549;12368902;12742663;12748383;12939256;1406973;14504276;14654841;14731593;15029241;15037235;15197175;15199097;15272311;15282614;15297875;15302935;15326200;15592455;15616190;15632110;15749704;15813748;15911768;16030262;1607388;16103226;16181339;16213214;16236794;16242130;16262723;1631136;16461284;16565220;16571679;16618111;16633337;1680566;16824007;16912714;16926190;16940185;16964243;17081983;17113389;17142755;17253781;17283181;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18046453;18182008;18220336;18287528;18292509;18329369;18342609;18452278;18524849;18669648;18809720;1898986;19007248;19015319;19109418;19116309;19151722;19164740;19338388;19369418;19413330;19468300;1956401;19564404;1957170;19631211;19651622;19691289;19758564;20005805;20068231;20136777;20357002;20427317;20462495;20534429;20637885;21116285;2121367;21219331;21406692;2142332;21441454;21550981;21689688;21844168;2190094;22013193;22094269;22304919;22522702;22945935;23186163;23396477;23481700;23570799;2391366;24366607;2521221;2522352;25364732;25436559;25492864;25576301;25658096;25755297;25772364;25786116;25892735;26992070;30379171;30410026;30451992;31217245;3130248;3134048;31844290;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33159567;33592498;33630763;33691108;33717175;33912179;33936100;33968037;33981976;34019948;35051231;35494241;35580925;36010968;36241641;36284347;36825683;37938771;38360598;38780518;40596516;40914422;41361016;7481823;7528108;7539720;7592972;7650016;7667286;7822426;7844144;7929562;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8548803;8599929;8602245;8620540;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9114004;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9497313;9539769;9545226;9606180;9751720;9990005", "class_list": "", "function": "Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Essential for cytokinesis in Rho-mediated signaling. Required for the localization of ECT2 to the central spindle. Plus-end-directed motor enzyme that moves antiparallel microtubules in vitro., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; KIF23 promotes cervical cancer progression via inhibiting NLRP3-mediated pyroptosis., [RefSeq, PubMed]; SIRT7 promotes the proliferation and migration of anaplastic thyroid cancer cells by regulating the desuccinylation of KIF23. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [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": 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": 25, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4E1K0;Q8WVP0", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005813 centrosome", "go_biological_process": "GO:0000281 mitotic cytokinesis;GO:0007018 microtubule-based movement;GO:0032467 positive regulation of cytokinesis;GO:0051256 mitotic spindle midzone assembly;GO:0000022 mitotic spindle elongation", "synthesized_glycan_count": 0, "hit_score": 24.8, "record_id": "Q02241-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Y34-1", "uniprot_id": [ { "id": "AGRG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Y34", "type": "external" } ], "mass": 60861.0, "length": 549, "protein_name": "Adhesion G protein-coupled receptor G3", "gene_name": "ADGRG3", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor G3 isoform 2", "refseq_ac": [ { "id": "NP_001295289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295289", "type": "external" } ], "gene_names_uniprotkb": "ADGRG3; GPR97; PGR26", "gene_names_refseq": "ADGRG3; GPR97; PB99; PGR26", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor G3; G protein-coupled receptor 97", "protein_names_refseq": "G protein-coupled receptor 97; G-protein coupled receptor PGR26; adhesion G protein-coupled receptor G3 isoform 2; probable G-protein coupled receptor 97", "tax_id": 9606, "disease": "", "pathway": " (hsa:222487); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "11237011;12435584;12679517;15340161;20424473;22575658;23650620;24178298;25713288;25892735;30559745;32938616;33408414;35051231;35093639;36302784;8692836", "class_list": "", "function": "Adhesion G protein-coupled receptor (aGPCR) for glucocorticoid hormones such as cortisol, cortisone and 11-deoxycortisol (PubMed:33408414). 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:33408414). ADGRG3/GPR97 is coupled to G(o)/GNAO1 G proteins and mediates signaling by inhibiting adenylate cyclase activity (PubMed:33408414). May also signal through G-alpha(q)-proteins; additional evidence are however required to confirm this result in vivo (PubMed:22575658). Plays a role in the regulation of various processes including B-cell development, inflammation or innate immunity (PubMed:30559745, PubMed:36302784). Regulates migration of lymphatic endothelial cells in vitro via the small GTPases RhoA and CDC42 (PubMed:24178298). Antibody ligation leads to the production and activation of antimicrobial mediators like reactive oxygen species (ROS) and myeloperoxidase (MPO) as well as enhanced bacteria uptake and killing by granulocytes (PubMed:30559745). Additionally, collaborates with protease-activated receptor 2/PAR2 to stimulate neutrophil-driven antimicrobial responses and endothelial cell activation (PubMed:36302784)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Curcumin activates G protein-coupled receptor 97 (GPR97) in a manner different from glucocorticoid., [RefSeq, PubMed]; GPR97 triggers inflammatory processes in human neutrophils via a macromolecular complex upstream of PAR2 activation. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Structures of the glucocorticoid-bound adhesion receptor GPR97-Go complex., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "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": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZMF4;Q86SL9;Q8IZF1", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0035579 specific granule membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0030183 B cell differentiation;GO:0030334 regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q86Y34-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01911-1", "uniprot_id": [ { "id": "DRB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P01911", "type": "external" } ], "mass": 29966.0, "length": 266, "protein_name": "HLA class II histocompatibility antigen, DRB1 beta chain", "gene_name": "HLA-DRB1", "organism": "Human", "refseq_name": "major histocompatibility complex, class II, DR beta 1 precursor", "refseq_ac": [ { "id": "NP_001230894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230894", "type": "external" } ], "gene_names_uniprotkb": "HLA-DRB1", "gene_names_refseq": "DRB1; HLA-DR1B; HLA-DRB1; HLA-DRB; SS1", "protein_names_uniprotkb": "HLA class II histocompatibility antigen, DRB1 beta chain; HLA-DRB1; Human leukocyte antigen DRB1", "protein_names_refseq": "HLA class II histocompatibility antigen, DR-1 beta chain; MHC class II HLA-DR beta 1 chain; human leucocyte antigen DRB1; lymphocyte antigen DRB1; major histocompatibility complex, class II, DR beta 1 precursor", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); autoimmune polyendocrine syndrome type 2 (Disease Ontology:DOID:0050168); primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); rheumatic heart disease (Disease Ontology:DOID:0050827); stroke (Disease Ontology:DOID:0051061); latex allergy (Disease Ontology:DOID:0060532); lupus nephritis (Disease Ontology:DOID:0080162); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); sensorineural hearing loss (Disease Ontology:DOID:10003); leprosy (Disease Ontology:DOID:1024); prostate cancer (Disease Ontology:DOID:10283); bacterial infectious disease (Disease Ontology:DOID:104); celiac disease (Disease Ontology:DOID:10608); Alzheimer's disease (Disease Ontology:DOID:10652); Alport syndrome (Disease Ontology:DOID:10983); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); Hantavirus hemorrhagic fever with renal syndrome (Disease Ontology:DOID:11266); sarcoidosis (Disease Ontology:DOID:11335); cicatricial pemphigoid (Disease Ontology:DOID:11656); diabetic angiopathy (Disease Ontology:DOID:11713); sympathetic ophthalmia (Disease Ontology:DOID:12029); allergic disease (Disease Ontology:DOID:1205); optic neuritis (Disease Ontology:DOID:1210); Chagas disease (Disease Ontology:DOID:12140); alveolar echinococcosis (Disease Ontology:DOID:12148); Vogt-Koyanagi-Harada disease (Disease Ontology:DOID:12297); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); vulva cancer (Disease Ontology:DOID:1245); paracoccidioidomycosis (Disease Ontology:DOID:12662); autistic disorder (Disease Ontology:DOID:12849); choreatic disease (Disease Ontology:DOID:12859); Sjogren's syndrome (Disease Ontology:DOID:12894); thromboangiitis obliterans (Disease Ontology:DOID:12918); retinopathy of prematurity (Disease Ontology:DOID:13025); uveitis (Disease Ontology:DOID:13141); allergic bronchopulmonary aspergillosis (Disease Ontology:DOID:13166); Behcet's disease (Disease Ontology:DOID:13241); typhoid fever (Disease Ontology:DOID:13258); temporal arteritis (Disease Ontology:DOID:13375); pure red-cell aplasia (Disease Ontology:DOID:1340); uveoparotid fever (Disease Ontology:DOID:13404); pulmonary sarcoidosis (Disease Ontology:DOID:13406); Addison's disease (Disease Ontology:DOID:13774); polyneuropathy (Disease Ontology:DOID:1389); schistosomiasis (Disease Ontology:DOID:1395); autoimmune polyendocrine syndrome (Disease Ontology:DOID:14040); toxic shock syndrome (Disease Ontology:DOID:14115); Parkinson's disease (Disease Ontology:DOID:14330); hypothyroidism (Disease Ontology:DOID:1459); cystic echinococcosis (Disease Ontology:DOID:1495); urticaria (Disease Ontology:DOID:1555); rheumatic fever (Disease Ontology:DOID:1586); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); hepatitis C (Disease Ontology:DOID:1883); autoimmune hepatitis (Disease Ontology:DOID:2048); multiple sclerosis (Disease Ontology:DOID:2377); Takayasu's arteritis (Disease Ontology:DOID:2508); 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); breast carcinoma (Disease Ontology:DOID:3459); mixed connective tissue disease (Disease Ontology:DOID:3492); cerebral infarction (Disease Ontology:DOID:3526); tuberculosis (Disease Ontology:DOID:399); multidrug-resistant tuberculosis (Disease Ontology:DOID:401); autoimmune disease (Disease Ontology:DOID:417); myasthenia gravis (Disease Ontology:DOID:437); renal cell carcinoma (Disease Ontology:DOID:4450); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); myositis (Disease Ontology:DOID:633); acute disseminated encephalomyelitis (Disease Ontology:DOID:639); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); autoimmune thyroiditis (Disease Ontology:DOID:7188); peptic ulcer disease (Disease Ontology:DOID:750); abdominal aortic aneurysm (Disease Ontology:DOID:7693); infectious mononucleosis (Disease Ontology:DOID:8568); neuromyelitis optica (Disease Ontology:DOID:8869); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); atrophic gastritis (Disease Ontology:DOID:8929); diabetic retinopathy (Disease Ontology:DOID:8947); narcolepsy (Disease Ontology:DOID:8986); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); systemic lupus erythematosus (Disease Ontology:DOID:9074); pemphigus (Disease Ontology:DOID:9182); allergic asthma (Disease Ontology:DOID:9415); type 1 diabetes mellitus (Disease Ontology:DOID:9744); Meniere's disease (Disease Ontology:DOID:9849); sarcoidosis, susceptibility to, 1 (MONDO:MONDO:0008399); multiple sclerosis, susceptibility to 1 (MONDO:MONDO:0021571)", "pathway": " (hsa:3123); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-2132295); (R-HSA-389948); (R-HSA-877300)", "pathway_count": 8, "publication_count": 296, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10064083;10067896;10072072;10480952;10540230;10593899;10631941;10631952;10639150;10671560;10698680;10716940;10747096;10748235;10790433;10809954;10811803;10986460;11048639;11070170;11237011;11358993;11390650;11432818;11529500;11607830;11684289;11752630;11790530;11813165;11827988;11853874;11864610;11884229;11972023;11972886;12028552;12040185;12078484;12198549;12358860;12438563;12446674;12473184;12485116;12652907;12660731;12742663;12748383;12893276;12915721;12938237;12947224;1396683;14508706;14510693;14514672;14586410;14722222;14731593;15084594;1508672;15122200;15125833;15143187;15145317;15265931;15322115;15358536;15371334;15388922;15489910;15489916;15530433;15541657;15749704;15896200;15911768;16056267;16140993;16148104;16181339;16237089;16242130;16356853;16356855;16364187;16461343;16467876;16612002;16618111;16824007;16978534;17047224;17072321;17125875;17135271;17142755;17174751;17182262;17283181;17345114;17363905;17468049;17496917;17548359;17652306;17728323;18046453;18173375;18292509;18305173;18362138;18566446;18591661;18759926;19120973;19303388;1956401;19564404;19706888;19830726;20049711;20130243;20304997;20346773;20356336;20363976;21116285;21154117;2121367;21388356;2140786;21441454;21543337;21833088;21900604;2190094;2210803;22286218;22327072;22426112;22929521;23061660;23260142;23302904;23510415;23580664;23739916;23783831;2391366;24190431;24190977;24417533;2497068;2530588;25413013;25559196;26154972;26396036;2658055;26992070;27114505;27591323;28165004;28265006;28467828;2885840;29317506;29557506;29863979;29884618;2998758;30282837;30337930;30522017;31020640;3110774;3129499;31308093;31313098;31495665;31611695;31619516;31844290;32157095;32350084;32357974;32387766;32488085;32502341;3259543;32668259;32938616;32983136;33043033;33091337;33141586;33239784;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34078123;34357683;34433824;34509645;3456344;34932366;35051231;35154160;35561310;35580925;3571980;36215666;36284347;37074911;37938771;38596887;3875800;38809622;38819529;38950968;39169719;6589154;6600932;6947956;7477400;7479848;7479981;7481823;7510216;7514165;7530745;7565724;7592972;7615558;7617032;7650016;7657660;7667286;7673114;7690989;7796299;8046351;8134367;8145819;8148318;8152483;8156998;8176225;8313912;8397411;8415765;8483949;8520027;8530158;8550590;8550631;8601309;8631301;8642258;8642306;8687433;8798379;8824201;8849454;8909537;8939989;8947036;9075930;9111318;9115214;9143706;9151859;9202021;9252186;9311912;9312039;9354468;9362451;9497313;9539769;9545226;9606180;9687533;9777332;9782128;9846482;9850860;9990853", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Epstein-Barr virus on lymphocytes., [UniProtKB, PubMed, PubMed]; A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T cell receptor (TCR) on HLA-DRB1-restricted CD4-positive T cells. This guides antigen-specific T-helper effector functions, both antibody-mediated immune response and macrophage activation, to ultimately eliminate the infectious agents and transformed cells (PubMed:15265931, PubMed:16148104, PubMed:22327072, PubMed:27591323, PubMed:29884618, PubMed:31495665, PubMed:8642306). Typically presents extracellular peptide antigens of 10 to 30 amino acids that arise from proteolysis of endocytosed antigens in lysosomes (PubMed:8145819). In the tumor microenvironment, presents antigenic peptides that are primarily generated in tumor-resident APCs likely via phagocytosis of apoptotic tumor cells or macropinocytosis of secreted tumor proteins (PubMed:31495665). Presents peptides derived from intracellular proteins that are trapped in autolysosomes after macroautophagy, a mechanism especially relevant for T cell selection in the thymus and central immune tolerance (PubMed:17182262, PubMed:23783831). The selection of the immunodominant epitopes follows two processing modes: 'bind first, cut/trim later' for pathogen-derived antigenic peptides and 'cut first, bind later' for autoantigens/self-peptides (PubMed:25413013). The anchor residue at position 1 of the peptide N-terminus, usually a large hydrophobic residue, is essential for high affinity interaction with MHCII molecules (PubMed:8145819)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Allele DRB1*01:01: Displays an immunodominant epitope derived from Bacillus anthracis pagA/protective antigen, PA (KLPLYISNPNYKVNVYAVT), to both naive and PA-specific memory CD4-positive T cells (PubMed:22327072). Presents immunodominant HIV-1 gag peptide (FRDYVDRFYKTLRAEQASQE) on infected dendritic cells for recognition by TRAV24-TRBV2 TCR on CD4-positive T cells and controls viral load (PubMed:29884618). May present to T-helper 1 cells several HRV-16 epitopes derived from capsid proteins VP1 (PRFSLPFLSIASAYYMFYDG) and VP2 (PHQFINLRSNNSATLIVPYV), contributing to viral clearance (PubMed:27591323). Displays commonly recognized peptides derived from IAV external protein HA (PKYVKQNTLKLAT and SNGNFIAPEYAYKIVK) and from internal proteins M, NP and PB1, with M-derived epitope (GLIYNRMGAVTTEV) being the most immunogenic (PubMed:25413013, PubMed:32668259, PubMed:8145819, PubMed:9075930). Presents a self-peptide derived from COL4A3 (GWISLWKGFSF) to TCR (TRAV14 biased) on CD4-positive, FOXP3-positive regulatory T cells and mediates immune tolerance to self (PubMed:28467828). May present peptides derived from oncofetal trophoblast glycoprotein TPBG 5T4, known to be recognized by both T-helper 1 and regulatory T cells (PubMed:31619516). Displays with low affinity a self-peptide derived from MBP (VHFFKNIVTPRTP) (PubMed:9075930)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Allele DRB1*03:01: May present to T-helper 1 cells an HRV-16 epitope derived from capsid protein VP2 (NEKQPSDDNWLNFDGTLLGN), contributing to viral clearance (PubMed:27591323). Displays self-peptides derived from retinal SAG (NRERRGIALDGKIKHE) and thyroid TG (LSSVVVDPSIRHFDV) (PubMed:25413013). Presents viral epitopes derived from HHV-6B gH/U48 and U85 antigens to polyfunctional CD4-positive T cells with cytotoxic activity implicated in control of HHV-6B infection (PubMed:31020640). Presents several immunogenic epitopes derived from C.tetani neurotoxin tetX, playing a role in immune recognition and long-term protection (PubMed:19830726)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Allele DRB1*04:01: Presents an immunodominant bacterial epitope derived from M.tuberculosis esxB/culture filtrate antigen CFP-10 (EISTNIRQAGVQYSR), eliciting CD4-positive T cell effector functions such as IFNG production and cytotoxic activity (PubMed:15265931). May present to T-helper 1 cells an HRV-16 epitope derived from capsid protein VP2 (NEKQPSDDNWLNFDGTLLGN), contributing to viral clearance (PubMed:27591323). Presents tumor epitopes derived from melanoma-associated TYR antigen (QNILLSNAPLGPQFP and DYSYLQDSDPDSFQD), triggering CD4-positive T cell effector functions such as GMCSF production (PubMed:8642306). Displays preferentially citrullinated self-peptides derived from VIM (GVYATR/citSSAVR and SAVRAR/citSSVPGVR) and ACAN (VVLLVATEGR/ CitVRVNSAYQDK) (PubMed:24190431). Displays self-peptides derived from COL2A1 (PubMed:9354468)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Allele DRB1*04:02: Displays native or citrullinated self-peptides derived from VIM., [UniProtKB, PubMed]; Allele DRB1*04:04: May present to T-helper 1 cells several HRV-16 epitopes derived from capsid proteins VP1 (HIVMQYMYVPPGAPIPTTRN) and VP2 (RGDSTITSQDVANAVVGYGV), contributing to viral clearance (PubMed:27591323). Displays preferentially citrullinated self-peptides derived from VIM (SAVRAR/citSSVPGVR) (PubMed:24190431)., [UniProtKB, PubMed, PubMed]; Allele DRB1*04:05: May present to T-helper 1 cells an immunogenic epitope derived from tumor-associated antigen WT1 (KRYFKLSHLQMHSRKH), likely providing for effective antitumor immunity in a wide range of solid and hematological malignancies., [UniProtKB, PubMed]; Allele DRB1*05:01: Presents an immunodominant HIV-1 gag peptide (FRDYVDRFYKTLRAEQASQE) on infected dendritic cells for recognition by TRAV24-TRBV2 TCR on CD4-positive T cells and controls viral load., [UniProtKB, PubMed]; Allele DRB1*07:01: Upon EBV infection, presents latent antigen EBNA2 peptide (PRSPTVFYNIPPMPLPPSQL) to CD4-positive T cells, driving oligoclonal expansion and selection of a dominant virus-specific memory T cell subset with cytotoxic potential to directly eliminate virus-infected B cells (PubMed:31308093). May present to T-helper 1 cells several HRV-16 epitopes derived from capsid proteins VP1 (PRFSLPFLSIASAYYMFYDG) and VP2 (VPYVNAVPMDSMVRHNNWSL), contributing to viral clearance (PubMed:27591323). In the context of tumor immunesurveillance, may present to T-helper 1 cells an immunogenic epitope derived from tumor-associated antigen WT1 (MTEYKLVVVGAVGVGKSALTIQLI), likely providing for effective antitumor immunity in a wide range of solid and hematological malignancies (PubMed:22929521). In metastatic epithelial tumors, presents to intratumoral CD4-positive T cells a KRAS neoantigen (MTEYKLVVVGAVGVGKSALTIQLI) carrying G12V hotspot driver mutation and may mediate tumor regression (PubMed:30282837)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Allele DRB1*11:01: Displays an immunodominant HIV-1 gag peptide (FRDYVDRFYKTLRAEQASQE) on infected dendritic cells for recognition by TRAV24-TRBV2 TCR on CD4-positive T cells and controls viral load (PubMed:29884618). May present to T-helper 1 cells an HRV-16 epitope derived from capsid protein VP2 (SDRIIQITRGDSTITSQDVA), contributing to viral clearance (PubMed:27591323). Presents several immunogenic epitopes derived from C.tetani neurotoxin tetX, playing a role in immune recognition and longterm protection (PubMed:19830726). In the context of tumor immunesurveillance, may present tumor-derived neoantigens to CD4-positive T cells and trigger anti-tumor helper functions (PubMed:31495665)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Allele DRB1*13:01: Presents viral epitopes derived from HHV-6B antigens to polyfunctional CD4-positive T cells implicated in control of HHV-6B infection., [UniProtKB, PubMed]; Allele DRB1*15:01: May present to T-helper 1 cells an HRV-16 epitope derived from capsid protein VP2 (SNNSATLIVPYVNAVPMDSM), contributing to viral clearance (PubMed:27591323). Displays a self-peptide derived from MBP (ENPVVHFFKNIVTPR) (PubMed:25413013, PubMed:9782128). May present to T-helper 1 cells an immunogenic epitope derived from tumor-associated antigen WT1 (KRYFKLSHLQMHSRKH), likely providing for effective antitumor immunity in a wide range of solid and hematological malignancies., [UniProtKB, PubMed, PubMed, PubMed]; Allele DRB1*15:02: Displays an immunodominant HIV-1 gag peptide (FRDYVDRFYKTLRAEQASQE) on infected dendritic cells for recognition by TRAV24-TRBV2 TCR on CD4-positive T cells and controls viral load (PubMed:29884618). May present to T-helper 1 cells an immunogenic epitope derived from tumor-associated antigen WT1 (KRYFKLSHLQMHSRKH), likely providing for effective antitumor immunity in a wide range of solid and hematological malignancies (PubMed:19120973)., [UniProtKB, PubMed, PubMed]; Association of HLA-DRB1 alleles with status of antibodies to hepatitis B surface and e antigen., [RefSeq, PubMed]; HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]., [RefSeq]; Human Leukocyte Antigen Alleles (HLA-A, HLA-B, and HLA-DRB1) are associated with Acute Lymphoblastic Leukemia (ALL) : A Case-Control Study in a Sample of Iranian Population. Publication Status: Online-Only, [RefSeq, PubMed]; Impact of human leucocyte antigen class II polymorphism on anti-red blood cell antibody development: Correlations and indications., [RefSeq, PubMed]; The Impact of Rheumatoid Arthritis on First Nations and How We Can Work With Communities to Prevent It. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The impact of HLA-DRB1 alleles in a Hellenic, Pediatric-Onset Multiple Sclerosis cohort: Implications on clinical and neuroimaging profile., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 0, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 56, "disease_count": 97, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0MWF2;A0N0W1;A2ICT1;A2TGX3;A4F5N0;A4ZXA5;A4ZXA6;A4ZY86;A5H000;A5HKN8;A7DZP9;A7LA26;A7UHG2;A7X5B1;A7X5B7;A7X5E0;A7X5E6;A7X5H8;A7X5J4;A7X5K7;A8K098;A8YQE9;A9JPG0;B0BK85;B0LUZ6;B0UYW1;B1GWE7;B2CR03;B2LVF9;B2NJ29;B2ZCY1;B3VTP8;B3VTQ3;B5A8Y2;B5A8Y3;B5B8U0;B5B9V5;B5B9V6;B5LZ25;B5QSK8;B6VCX2;B6VEL9;B7UDB2;B9VRA4;B9X248;C0LAB5;O02876;O02930;O19585;O19717;O19718;O19739;O19788;O46699;O46793;O46872;O62869;O62889;O77969;O78047;O78210;O98212;P01912;P01914;P04229;P13758;P13759;P13760;P13761;P20039;P79545;Q06662;Q0PGR5;Q0PQ39;Q14280;Q14QT2;Q155F7;Q19AF2;Q19K86;Q1AP33;Q1G0Z9;Q1JRP3;Q1KLJ6;Q27PR6;Q27PR7;Q29673;Q29720;Q29722;Q29734;Q29770;Q29771;Q29772;Q29790;Q29792;Q29800;Q29806;Q29833;Q29874;Q29875;Q29886;Q29968;Q29974;Q29975;Q2A120;Q2HZE5;Q2L9H4;Q2LE76;Q2MF40;Q2MJA6;Q2MZ92;Q2VQU1;Q2YHQ2;Q30006;Q30108;Q30112;Q30115;Q30116;Q30117;Q30120;Q30134;Q30142;Q30145;Q30149;Q30159;Q30166;Q30167;Q30200;Q307W5;Q31636;Q32MY7;Q3HUP9;Q3KTM1;Q3LA84;Q3LA87;Q3LA88;Q3LA89;Q3LA90;Q3LA91;Q3LA92;Q3LA93;Q3LA94;Q3LA95;Q3LA96;Q3LA97;Q3LA98;Q3LA99;Q3LAA0;Q3LAA1;Q3LAA2;Q3MQ60;Q3T919;Q4PRC3;Q4PRC5;Q4VZY7;Q53IG1;Q56FN9;Q56FP1;Q56FP2;Q56FP3;Q58F52;Q5BM92;Q5EER6;Q5K3W2;Q5NDB9;Q5U9W6;Q5UBA2;Q5UT58;Q5W3L4;Q5Y7A7;Q5Y7B0;Q5Y7B9;Q5Y7E9;Q5Y7G0;Q683P7;Q6REE2;Q6T865;Q6U387;Q701T1;Q70GL2;Q70Q85;Q768U2;Q768U4;Q7M2H4;Q7YNY9;Q7YP03;Q7YP04;Q7YQ26;Q7YQA3;Q7YQA5;Q860D8;Q860D9;Q860E5;Q860H8;Q860S0;Q860Z3;Q861G6;Q861H0;Q861H4;Q861H5;Q861H7;Q861H8;Q8HWQ6;Q8MH59;Q8MH60;Q8WLU3;Q8WMA0;Q95348;Q95383;Q95389;Q95461;Q95HK1;Q95HL0;Q95HL1;Q95IE3;Q95IG2;Q95IT6;Q96HZ9;Q9BCL7;Q9BCP0;Q9BCP1;Q9BCP2;Q9BCP5;Q9BD21;Q9BD33;Q9BD40;Q9GIK5;Q9GIL5;Q9GIL6;Q9GIP3;Q9GIX8;Q9GIX9;Q9GIY0;Q9GIY1;Q9GIY2;Q9GIY3;Q9GIY4;Q9GJ25;Q9GJ56;Q9GJ57;Q9GJ58;Q9GJ60;Q9GJF8;Q9GJF9;Q9GJG0;Q9MXZ0;Q9MXZ5;Q9MY13;Q9MY45;Q9MY56;Q9MYF5;Q9TPB6;Q9TPW1;Q9TPW3;Q9TPW9;Q9TPX4;Q9TQ37;Q9TQ91;Q9TQE0;Q9UBY1;Q9UIM9;Q9UIN0;Q9XRX1;Q9XRY4;Q9XRY5;Q9Y453;Q9Y4H7", "ec_number_list": [], "go_molecular_function": "GO:0030247 polysaccharide binding;GO:0005200 structural constituent of cytoskeleton;GO:0023026 MHC class II protein complex binding;GO:0042605 peptide antigen binding;GO:0042609 CD4 receptor binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0002842 positive regulation of T cell mediated immune response to tumor cell;GO:0032831 positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation;GO:0045622 regulation of T-helper cell differentiation;GO:0006955 immune response;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 35.4, "record_id": "P01911-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0K1-1", "uniprot_id": [ { "id": "ADA22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0K1", "type": "external" } ], "mass": 100433.0, "length": 906, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 22", "gene_name": "ADAM22", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 22 isoform 4 precursor", "refseq_ac": [ { "id": "NP_004185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004185", "type": "external" } ], "gene_names_uniprotkb": "ADAM22; MDC2", "gene_names_refseq": "ADAM 22; ADAM22; DEE61; EIEE61; MDC2", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 22; ADAM 22; Metalloproteinase-disintegrin ADAM22-3; Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2", "protein_names_refseq": "a disintegrin and metalloproteinase domain 22; disintegrin and metalloproteinase domain-containing protein 22 isoform 4 precursor; disintegrin and metalloproteinase domain-containing protein 22; metalloproteinase-disintegrin ADAM22-3; metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 61 (Disease Ontology:DOID:0080434)", "pathway": " (hsa:53616); (R-HSA-5682910)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10.1101/2023.09.13.557529;10524237;11050470;11237011;12589811;14759258;15882968;16385342;16990550;17387609;18628660;18974846;19413330;19664994;19692335;20162351;20220021;20461023;21406692;21829378;24190977;25892735;27066583;28467828;31844290;32157095;32350084;32897882;33208158;33633747;33717175;34357683;34561969;35051231;35154160;35373813;37074911;38518731;9693107", "class_list": "", "function": "ADAM22 acts as a novel predictive biomarker for unfavorable prognosis and facilitates metastasis via PI3K/AKT signaling pathway in nasopharyngeal carcinoma., [RefSeq, PubMed]; ADAM22/LGI1 complex as a new actionable target for breast cancer brain metastasis. Erratum:[BMC Med. 2025 Dec 13;23(1):682. doi: 10.1186/s12916-025-04578-x. PMID: 41390399] Publication Status: Online-Only, [RefSeq, PubMed]; Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy., [RefSeq, PubMed]; Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein (PubMed:19692335). Involved in regulation of cell adhesion and spreading and in inhibition of cell proliferation. Neuronal receptor for LGI1., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Role for the 14-3-3zeta/ADAM 22 association in the regulation of cell adhesion and related signaling events, [RefSeq, PubMed]; This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010]., [RefSeq]", "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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "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": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 9, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O75075;O75076;Q9P0K2;Q9UIA1;Q9UKK2", "ec_number_list": [], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0005178 integrin binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0098839 postsynaptic density membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006508 proteolysis;GO:0007155 cell adhesion;GO:0007162 negative regulation of cell adhesion;GO:0007417 central nervous system development;GO:0050806 positive regulation of synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9P0K1-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60953-2", "uniprot_id": [ { "id": "CDC42_HUMAN", "url": "https://www.uniprot.org/uniprot/P60953", "type": "external" } ], "mass": 21259.0, "length": 191, "protein_name": "Cell division control protein 42 homolog", "gene_name": "CDC42", "organism": "Human", "refseq_name": "cell division control protein 42 homolog isoform 1 precursor", "refseq_ac": [ { "id": "NP_001034891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034891", "type": "external" } ], "gene_names_uniprotkb": "CDC42", "gene_names_refseq": "CDC42Hs; CDC42; G25K; TKS", "protein_names_uniprotkb": "Cell division control protein 42 homolog; 3.6.5.2; G25K GTP-binding protein", "protein_names_refseq": "G25K GTP-binding protein; GTP binding protein, 25kDa; cell division control protein 42 homolog isoform 1 precursor; cell division control protein 42 homolog; dJ224A6.1.1 (cell division cycle 42 (GTP-binding protein, 25kD)); dJ224A6.1.2 (cell division cycle 42 (GTP-binding protein, 25kD)); growth-regulating protein; small GTP binding protein CDC42", "tax_id": 9606, "disease": "cerebral cavernous malformation (Disease Ontology:DOID:0060669); microvillus inclusion disease (Disease Ontology:DOID:0060775); Alzheimer's disease (Disease Ontology:DOID:10652); pancreatic cancer (Disease Ontology:DOID:1793); syndrome (Disease Ontology:DOID:225); bipolar disorder (Disease Ontology:DOID:3312); temporal lobe epilepsy (Disease Ontology:DOID:3328); fibrosarcoma (Disease Ontology:DOID:3355); rhinitis (Disease Ontology:DOID:4483); myelofibrosis (Disease Ontology:DOID:4971); kidney disease (Disease Ontology:DOID:557); cleft palate (Disease Ontology:DOID:674); macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (MONDO:MONDO:0014757)", "pathway": " (hsa:998); (R-HSA-114604); (R-HSA-182971); (R-HSA-2029482); (R-HSA-389359); (R-HSA-3928662); (R-HSA-418885); (R-HSA-428543); (R-HSA-4420097); (R-HSA-525793); (R-HSA-5625970); (R-HSA-5626467); (R-HSA-5627123); (R-HSA-5663213); (R-HSA-5663220); (R-HSA-5687128); (R-HSA-8950505); (R-HSA-8964616); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013420); (R-HSA-9013423); (R-HSA-9013424); (R-HSA-9664422); (R-HSA-983231); (R-HSA-9958810); (R-HSA-9958825)", "pathway_count": 31, "publication_count": 819, "publication_id_list": 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"class_list": "", "function": "A transcribed ultraconserved noncoding RNA, uc.285+, promotes colorectal cancer proliferation through dual targeting of CDC42 by directly binding mRNA and protein., [RefSeq, PubMed]; Inflammatory gene regulation by Cdc42 in airway epithelial cells., [RefSeq, 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]; PTBP1-mediated repression of neuron-specific CDC42 splicing constitutes a genomic alteration-independent, developmentally conserved vulnerability in IDH-wildtype glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Regulates the bipolar attachment of spindle microtubules to kinetochores before chromosome congression in metaphase (PubMed:15642749). Regulates cell migration (PubMed:17038317, PubMed:22843693). In neurons, plays a role in the extension and maintenance of the formation of filopodia, thin and actin-rich surface projections (PubMed:14978216). Required for DOCK10-mediated spine formation in Purkinje cells and hippocampal neurons. In podocytes, facilitates filopodia and podosomes formation upon DOCK11-activation (PubMed:33523862). Upon activation by CaMKII, modulates dendritic spine structural plasticity by relaying CaMKII transient activation to synapse-specific, long-term signaling (By similarity). Also plays a role in phagocytosis through organization of the F-actin cytoskeleton associated with forming phagocytic cups (PubMed:26465210). Upon activation by PLEKHG4B, involved in actin cytoskeletal remodeling during epithelial cell-cell junction formation (PubMed:33310911). Negatively regulates polymerization of SEPTIN12, as a result may be involved in spermatogenesis (PubMed:30189608)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; The Circulating CDC42 Expression in Sepsis: Relation to Disease Susceptibility, Inflammation, Multiple Organ Dysfunctions and Mortality Risk., [RefSeq, PubMed]; The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]., [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": 2, "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": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "P21181;P25763;Q7L8R5;Q9UDI2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.24", 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"https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019901 protein kinase binding;GO:0034191 apolipoprotein A-I receptor binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0086100 endothelin receptor signaling pathway;GO:0006897 endocytosis;GO:0006911 phagocytosis, engulfment;GO:0007015 actin filament organization;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 82.4, "record_id": "P60953-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05901-1", "uniprot_id": [ { "id": "ACHB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05901", "type": "external" } ], "mass": 52729.0, "length": 458, "protein_name": "Neuronal acetylcholine receptor subunit beta-3", "gene_name": "CHRNB3", "organism": "Human", "refseq_name": "neuronal acetylcholine receptor subunit beta-3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000740", "type": "external" } ], "gene_names_uniprotkb": "CHRNB3", "gene_names_refseq": "CHRNB3", "protein_names_uniprotkb": "Neuronal acetylcholine receptor subunit beta-3", "protein_names_refseq": "acetylcholine receptor, neuronal nicotinic, beta-3 subunit; acetylcholine receptor, nicotinic, beta 3 (neuronal); cholinergic receptor, nicotinic beta 3; cholinergic receptor, nicotinic, beta 3 (neuronal); cholinergic receptor, nicotinic, beta polypeptide 3; neuronal acetylcholine receptor subunit beta-3 isoform 1 precursor; neuronal acetylcholine receptor subunit beta-3", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); Parkinson's disease (Disease Ontology:DOID:14330); major depressive disorder (Disease Ontology:DOID:1470); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); bipolar disorder (Disease Ontology:DOID:3312); congenital myasthenic syndrome (Disease Ontology:DOID:3635); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:1142); (R-HSA-629594); (R-HSA-629597)", "pathway_count": 3, "publication_count": 18, "publication_id_list": "10945867;11118490;11237011;12810063;16835356;19059502;23481700;26318101;27085880;27327258;27645992;28851948;33936100;34087483;35889515;7690916;8906617;9009220", "class_list": "", "function": "Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:11118490, PubMed:16835356, PubMed:35889515). Has an accessory rather than functional role and is only able to form functional nAChRs when co-assembled with another beta subunit (PubMed:11118490, PubMed:16835356). Participates in pentameric assemblies along with CHRNA3, CHRNA4, CHRNA6, CHRNB2 and CHRNB4 (PubMed:11118490, PubMed:16835356). Modulates receptor assembly and increases receptor sensitivity to nicotine when associated with CHRNB2, CHRNA4 and/or CHRNA6 as well as CHRNA3 and CHRNB4 (PubMed:11118490, PubMed:16835356). Seems to play a role in nicotine addiction (PubMed:11118490, PubMed:16835356)., [UniProtKB, PubMed, PubMed, PubMed]; Data provide evidence that the protective genetic variant at rs6474413 identified in human genetic studies reduces gene expression and that decreased beta3 gene expression in mice reduces nicotine intake, [RefSeq, PubMed]; More low frequency variants in the CHRNA6/CHRNB3 gene region were observed in cases compared to controls., [RefSeq, PubMed]; The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010]., [RefSeq]; This study is the first showing that CHRNB3/A6 are highly associated with nicotine dependence in a large Chinese Han sample. Publication Status: Online-Only, [RefSeq, PubMed]; This study shows that unorthodox acetylcholine binding sites can form at the alpha5/alpha4 and beta3/alpha4 interfaces in (alpha4beta2)2alpha5 and (alpha4beta2)2beta3 nicotinic acetylcholine receptors (nAChRs) and at the alpha4/alpha5 in (beta2alpha4)2alpha5 nAChRs., [RefSeq, PubMed]; To gain a better understanding of the pathological processes underlying ND and ND-related behaviors and to promote the development of effective smoking cessation therapies, we here present the most recent studies concerning the genetic effects of the CHRNB3-CHRNA6 gene cluster in ND. Review article Publication Status: Online-Only, [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": 2, "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": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q15827", "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:0004888 transmembrane signaling receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0042166 acetylcholine binding;GO:0015267 channel activity;GO:1901363 heterocyclic compound binding", "go_cellular_component": "GO:0034703 cation channel complex;GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007165 signal transduction;GO:0007271 synaptic transmission, cholinergic;GO:0007274 neuromuscular synaptic transmission;GO:0035094 response to nicotine;GO:0095500 acetylcholine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q05901-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1Q8-1", "uniprot_id": [ { "id": "THEM5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1Q8", "type": "external" } ], "mass": 27677.0, "length": 247, "protein_name": "Acyl-coenzyme A thioesterase THEM5", "gene_name": "THEM5", "organism": "Human", "refseq_name": "acyl-coenzyme A thioesterase THEM5", "refseq_ac": [ { "id": "NP_872384", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872384", "type": "external" } ], "gene_names_uniprotkb": "THEM5; ACOT15", "gene_names_refseq": "ACOT15; THEM5", "protein_names_uniprotkb": "Acyl-coenzyme A thioesterase THEM5; 3.1.2.2; Acyl-CoA thioesterase THEM5; Acyl-coenzyme A thioesterase 15; Thioesterase superfamily member 5", "protein_names_refseq": "acyl-CoA thioesterase THEM5; acyl-coenzyme A thioesterase 15; acyl-coenzyme A thioesterase THEM5", "tax_id": 9606, "disease": "", "pathway": " (hsa:284486); (R-HSA-77289)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11237011;11696000;12882974;15638818;16423998;16934754;16940157;17762044;17953517;18268358;19170545;20237496;20338778;20470824;20877624;21237683;22465940;22586271;22871024;23700546;23901139;24080521;24732803;25002576;26290611;30379171;4721607;8241273", "class_list": "", "function": "Has acyl-CoA thioesterase activity towards long-chain (C16 and C18) fatty acyl-CoA substrates, with a preference for linoleoyl-CoA and other unsaturated long-chain fatty acid-CoA esters (PubMed:22586271). Plays an important role in mitochondrial fatty acid metabolism, and in remodeling of the mitochondrial lipid cardiolipin (PubMed:22586271). Required for normal mitochondrial function (PubMed:22586271)., [UniProtKB, PubMed]; In vitro, Them5 shows strong thioesterase activity with long-chain acyl-CoAs. Loss of Them5 specifically alters the remodeling process of the mitochondrial phospholipid cardiolipin., [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]", "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": 0, "reported_mutagensis": 3, "reported_glycation": 0, "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": "Q5T1C3", "ec_number_list": [ { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "2.3.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.65", "type": "external" }, { "id": "3.5.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.6", "type": "external" }, { "id": "3.1.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.14", "type": "external" } ], "go_molecular_function": "GO:0052816 long-chain fatty acyl-CoA hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0035336 long-chain fatty-acyl-CoA metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8N1Q8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTV5-1", "uniprot_id": [ { "id": "PXL2C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTV5", "type": "external" } ], "mass": 24857.0, "length": 226, "protein_name": "Peroxiredoxin-like 2C", "gene_name": "PRXL2C", "organism": "Human", "refseq_name": "peroxiredoxin-like 2C", "refseq_ac": [ { "id": "NP_714542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_714542", "type": "external" } ], "gene_names_uniprotkb": "PRXL2C; AAED1; C9orf21", "gene_names_refseq": "AAED1; C9orf21; PRXL2C", "protein_names_uniprotkb": "Peroxiredoxin-like 2C; AhpC/TSA antioxidant enzyme domain-containing protein 1; Thioredoxin-like protein AAED1", "protein_names_refseq": "AhpC/TSA antioxidant enzyme domain containing 1; UPF0308 protein C9orf21; ahpC/TSA antioxidant enzyme domain-containing protein 1; peroxiredoxin-like 2C; thioredoxin-like protein AAED1", "tax_id": 9606, "disease": "", "pathway": " (hsa:195827)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;12234665;25418920;25880248;26811146;26992070;27600516;27846572;28218747;28832583;28904123;29242379;29393594;29632046;29632711;29901208;30315122;31844290;32265295;32350084;32357974;32387766;32502341;33141586;33912179;33981976;35051231;37938771", "class_list": "", "function": "May positively regulate ERK1/2 signaling and AKT1 activation leading to HIF1A up-regulation with an increased expression of glycolysis genes and enhanced glycolysis., [UniProtKB, 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": 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": 1, "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": "B2RMW4;Q5JU02", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0045821 positive regulation of glycolytic process", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q7RTV5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZD4-1", "uniprot_id": [ { "id": "AHSP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZD4", "type": "external" } ], "mass": 11840.0, "length": 102, "protein_name": "Alpha-hemoglobin-stabilizing protein", "gene_name": "AHSP", "organism": "Human", "refseq_name": "alpha-hemoglobin-stabilizing protein", "refseq_ac": [ { "id": "NP_001305150", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305150", "type": "external" } ], "gene_names_uniprotkb": "AHSP; EDRF; ERAF", "gene_names_refseq": "AHSP; EDRF; ERAF", "protein_names_uniprotkb": "Alpha-hemoglobin-stabilizing protein; Erythroid differentiation-related factor; Erythroid-associated factor", "protein_names_refseq": "alpha hemoglobin stabilising protein; alpha-hemoglobin-stabilizing protein; erythroid differentiation associated factor; erythroid differentiation-related factor", "tax_id": 9606, "disease": "HELLP syndrome (Disease Ontology:DOID:13133)", "pathway": " (hsa:51327)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11231637;11237011;12066189;12192002;15178680;15550245;15931225;26811146;28337528;29557506;31190133;34378186", "class_list": "", "function": "Acts as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development. Specifically protects free alpha-hemoglobin from precipitation. It is predicted to modulate pathological states of alpha-hemoglobin excess such as beta-thalassemia., [UniProtKB, PubMed]; Alpha haemoglobin-stabilising protein concentration in the red blood cells of patients with sickle cell anaemia with and without hydroxycarbamide treatment., [RefSeq, PubMed]; An abundant erythroid protein that stabilizes free alpha-haemoglobin., [RefSeq, PubMed]; Determination as a predominantly alpha-helical globular protein with a somewhat asymmetric shape, [RefSeq, PubMed]; Findings indicate that alpha-hemoglobin-stabilizing protein (AHSP) expression is a biomarker of hemoglobin H (HbH) disease severity and infer an important role of AHSP in modulating the pathophysiology of this disease., [RefSeq, PubMed]; The study documents that among the HbE beta thalassemia patients with varying severity, an exon mutation in AHSP is significantly prevalent only among the transfusion-dependent beta-thalassemia patients., [RefSeq, PubMed]; This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8TD01", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0030492 hemoglobin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005833 hemoglobin complex", "go_biological_process": "GO:0020027 hemoglobin metabolic process;GO:0030218 erythrocyte differentiation;GO:0050821 protein stabilization;GO:0006457 protein folding;GO:0030097 hemopoiesis", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9NZD4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS82-1", "uniprot_id": [ { "id": "AAA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS82", "type": "external" } ], "mass": 56798.0, "length": 523, "protein_name": "Asc-type amino acid transporter 1", "gene_name": "SLC7A10", "organism": "Human", "refseq_name": "asc-type amino acid transporter 1", "refseq_ac": [ { "id": "NP_062823", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_062823", "type": "external" } ], "gene_names_uniprotkb": "SLC7A10; ASC1", "gene_names_refseq": "ASC1; HASC-1; SLC7A10; asc-1", "protein_names_uniprotkb": "Asc-type amino acid transporter 1; Asc-1; Solute carrier family 7 member 10", "protein_names_refseq": "asc-type amino acid transporter 1; solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10; solute carrier family 7, (cationic amino acid transporter, y+ system) member 10; solute carrier family 7, (neutral amino acid transporter, y+ system) member 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:56301); (R-HSA-210991); (R-HSA-352230)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10358010;10391915;10485994;10698697;10823827;10863037;10880960;10891391;10903140;10921872;10930503;11237011;11243884;11278508;11318953;11342143;11417227;11509015;11591158;11719518;11827462;11943775;12202949;12527723;12558975;12809675;12930836;14707126;15151999;15458438;15659399;15901826;15918515;15946952;16260747;17996943;18195088;21097500;24652292;26992070;32161166;32397236;32488085;33968037;34197627;34932366;35051231;36916878;37903619;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9360995;9878049", "class_list": "", "function": "ASC-1 transporter-dependent amino acid uptake is required for the efficient thermogenic response of human adipocytes to adrenergic stimulation., [RefSeq, PubMed]; Associates with SLC3A2/4F2hc to form a functional heterodimeric complex that translocates small neutral L- and D-amino acids across the plasma membrane. Preferentially mediates exchange transport, but can also operate via facilitated diffusion (By similarity) (PubMed:10863037). Acts as a major transporter for glycine, L- and D-serine in the central nervous system. At the spinal cord and brainstem regulates glycine metabolism and glycinergic inhibitory neurotransmission by providing for glycine de novo synthesis from L-serine and glycine recycling from astrocytes to glycinergic motor neurons (By similarity). At Schaffer collateral-CA1 synapses mediates D-serine and glycine release that modulates post-synaptic activation of NMDA receptors and excitatory glutamatergic transmission (By similarity). May regulate D-serine release from mesenchymal progenitors located in developing subcutaneous adipose tissue, favoring white adipocyte over thermogenic beige adipocyte lineage commitment (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay. Publication Status: Online-Only, [RefSeq, PubMed]; Impaired Adipocyte SLC7A10 Promotes Lipid Storage in Association With Insulin Resistance and Altered BCAA Metabolism., [RefSeq, PubMed]; NLRC4, ASC and Caspase-1 Are Inflammasome Components that Are Mediated by P2Y2R Activation in Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]., [RefSeq]; The lack of expression of asc-1 in the proximal tubule indicates that it plays no role in the bulk of renal reabsorption of amino acids, [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": 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": 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": "B2RE84", "ec_number_list": [], "go_molecular_function": "GO:0015179 L-amino acid transmembrane transporter activity;GO:0015175 neutral L-amino acid transmembrane transporter activity;GO:0015194 L-serine transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0015816 glycine transport;GO:0006865 amino acid transport;GO:0015804 neutral amino acid transport;GO:0042941 D-alanine transmembrane transport;GO:0042942 D-serine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9NS82-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IQ32-1", "uniprot_id": [ { "id": "ADNP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IQ32", "type": "external" } ], "mass": 122833.0, "length": 1131, "protein_name": "Activity-dependent neuroprotector homeobox protein 2", "gene_name": "ADNP2", "organism": "Human", "refseq_name": "activity-dependent neuroprotector homeobox protein 2", "refseq_ac": [ { "id": "NP_055728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055728", "type": "external" } ], "gene_names_uniprotkb": "ADNP2; KIAA0863; ZNF508", "gene_names_refseq": "ADNP2; ZNF508", "protein_names_uniprotkb": "Activity-dependent neuroprotector homeobox protein 2; ADNP homeobox protein 2; Zinc finger protein 508", "protein_names_refseq": "ADNP homeobox protein 2; activity-dependent neuroprotector homeobox protein 2; zinc finger protein 508", "tax_id": 9606, "disease": "", "pathway": " (hsa:22850); (R-HSA-9940465)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "11237011;11242053;20598862;21406692;22424782;22645359;23481700;24365867;24531329;24715725;25114211;25576301;25645385;25892735;26154972;26992070;27600516;27846572;28218747;28228285;28514659;28832583;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29769354;29795351;30315122;30379171;30429286;30524438;31844290;32157095;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;35494241;35580925;36010968;36241641;36581221;38665916", "class_list": "", "function": "In the prefrontal cortex of schizophrenia patients the correlation between ADNP and ADNP2 mRNA levels was apparently higher than in the hippocampus (r=0.854, p<0.001), but did not reach a significant difference (p=0.25)., [RefSeq, PubMed]; May be involved in transcriptional regulation. May play a role in neuronal function; perhaps involved in protection of brain tissues from oxidative stress. May be involved in erythroid differentiation (By similarity)., [UniProtKB, UniProtKB]; This study showed ADNP2 that deregulated in postmortem hippocampal samples from schizophrenia patients, but that now showed a significantly increased expression in lymphocytes from related patients., [RefSeq, 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, "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": 0, "reported_glycation": 0, "reported_snv": 23, "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": "A8K951;O94943;Q9H9P3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q6IQ32-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21399-1", "uniprot_id": [ { "id": "ACOHC_HUMAN", "url": "https://www.uniprot.org/uniprot/P21399", "type": "external" } ], "mass": 98399.0, "length": 889, "protein_name": "Cytoplasmic aconitate hydratase", "gene_name": "ACO1", "organism": "Human", "refseq_name": "cytoplasmic aconitate hydratase", "refseq_ac": [ { "id": "NP_001265281", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265281", "type": "external" } ], "gene_names_uniprotkb": "ACO1; IREB1", "gene_names_refseq": "ACO1; ACONS; HEL60; IREB1; IREBP1; IREBP; IRP1", "protein_names_uniprotkb": "Cytoplasmic aconitate hydratase; 4.2.1.3; Aconitase; Citrate hydro-lyase; Ferritin repressor protein; IRE-BP 1; IRP1; Iron regulatory protein 1; Iron-responsive element-binding protein 1", "protein_names_refseq": "aconitase 1, soluble; aconitate hydratase, cytoplasmic; citrate hydro-lyase; cytoplasmic aconitase; cytoplasmic aconitate hydratase; cytosplasmic aconitase; epididymis luminal protein 60; epididymis secretory sperm binding protein; ferritin repressor protein; iron regulatory protein 1; iron-responsive element-binding protein 1; soluble aconitase", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); porphyria (Disease Ontology:DOID:13268); duodenal ulcer (Disease Ontology:DOID:1724)", "pathway": " (hsa:48); (R-HSA-389542); (R-HSA-917937)", "pathway_count": 3, "publication_count": 91, "publication_id_list": "10.1101/2023.09.13.557529;10521434;10597293;11083877;11323407;12453412;12504026;1281544;12958161;14576842;15001581;15044468;15173171;15201052;15531878;15537541;15636585;16143108;16274220;16377569;16407072;16510471;1738601;18194661;1903202;1946430;19762596;19762597;20053667;20068231;20550936;2154449;2172968;23033978;23615448;23891004;24275569;26992070;27862975;28510447;28768766;28904123;29320706;29393594;29437277;29557506;29632046;30315122;30429286;31154438;31222486;31844290;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32938616;33043033;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34171305;34185709;34229054;34357683;34572542;35051231;35121990;35318648;35580925;36010968;36142654;36215666;36241641;36284347;37938771;38665916;39122013;7983023;8024572;8041788;8245441;8262977;8695634", "class_list": "", "function": "Aco1 encodes a moonlighting protein that has aconitase activity as well as mRNA binding ability., [RefSeq, PubMed]; Bifunctional iron sensor that switches between 2 activities depending on iron availability (PubMed:1281544, PubMed:1946430, PubMed:8041788). Iron deprivation, promotes its mRNA binding activity through which it regulates the expression of genes involved in iron uptake, sequestration and utilization (PubMed:1281544, PubMed:1946430, PubMed:23891004, PubMed:8041788). Binds to iron-responsive elements (IRES) in the untranslated region of target mRNAs preventing for instance the translation of ferritin and aminolevulinic acid synthase and stabilizing the transferrin receptor mRNA (PubMed:1281544, PubMed:1946430, PubMed:23891004, PubMed:8041788)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Conversely, when cellular iron levels are high, binds a 4Fe-4S cluster which precludes RNA binding activity and promotes the aconitase activity, the isomerization of citrate to isocitrate via cis-aconitate., [UniProtKB, PubMed, PubMed, PubMed]; ENO1 suppresses cancer cell ferroptosis by degrading the mRNA of iron regulatory protein 1., [RefSeq, PubMed]; Human IRP1 Translocates to the Nucleus in a Cell-Specific and Iron-Dependent Manner. Publication Status: Online-Only, [RefSeq, PubMed]; Iron regulatory protein 1 is required for the propagation of inflammation in inflammatory bowel disease., [RefSeq, PubMed]; The Iron Maiden. Cytosolic Aconitase/IRP1 Conformational Transition in the Regulation of Ferritin Translation and Iron Hemostasis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014]., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DRK7;Q14652;Q5VZA7", "ec_number_list": [ { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" } ], "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0003723 RNA binding;GO:0003994 aconitate hydratase activity;GO:0046872 metal ion binding;GO:0051538 3 iron, 4 sulfur cluster binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006101 citrate metabolic process;GO:0006879 intracellular iron ion homeostasis;GO:0010040 response to iron(II) ion;GO:0006740 NADPH regeneration", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P21399-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28223-1", "uniprot_id": [ { "id": "5HT2A_HUMAN", "url": "https://www.uniprot.org/uniprot/P28223", "type": "external" } ], "mass": 52603.0, "length": 471, "protein_name": "5-hydroxytryptamine receptor 2A", "gene_name": "HTR2A", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 2A isoform 1", "refseq_ac": [ { "id": "NP_000612", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000612", "type": "external" } ], "gene_names_uniprotkb": "HTR2A; HTR2", "gene_names_refseq": "5-HT2A; HTR2A; HTR2", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 2A; 5-HT-2A; 5-HT-2; Serotonin receptor 2A", "protein_names_refseq": "5-HT2 receptor; 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled; 5-hydroxytryptamine receptor 2A isoform 1; serotonin 5-HT-2A receptor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); obsessive-compulsive disorder (Disease Ontology:DOID:10933); pathological gambling (Disease Ontology:DOID:12399); bladder neck obstruction (Disease Ontology:DOID:13948); major depressive disorder (Disease Ontology:DOID:1470); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); alcoholic psychosis (Disease Ontology:DOID:252); inflammatory and toxic neuropathy (Disease Ontology:DOID:2537); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); hyperglycemia (Disease Ontology:DOID:4195); pancreatitis (Disease Ontology:DOID:4989); schizophrenia (Disease Ontology:DOID:5419); congestive heart failure (Disease Ontology:DOID:6000); acute stress disorder (Disease Ontology:DOID:6088); cocaine abuse (Disease Ontology:DOID:809); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:3356); (R-HSA-390666); (R-HSA-416476)", "pathway_count": 3, "publication_count": 105, "publication_id_list": "10191087;10193663;10391209;10567430;10581480;10611634;10715164;10727532;10861009;11015615;11150294;11237011;11454652;11512051;11714892;11742120;11750183;11753430;12120503;12145108;12177684;12388666;12527336;12784105;12860470;1315531;1323014;1330647;1386736;14988405;1513320;15341484;15357957;15628665;1565658;15689356;15887956;15951850;16182515;16268778;16330560;16339447;16754659;16923326;1722404;18297054;18434541;18476671;18515384;18577758;18703043;18936096;19057895;1905813;19499624;20518729;20945968;21486038;21645528;22300836;24089568;24637012;28129538;2841328;29557506;3041384;3086311;31154438;31844290;35051231;35084960;36171289;38552625;38565988;38657123;38662111;38811567;7895773;7937899;8035173;8078486;8143856;8380639;8522988;8655141;8664309;8809227;8935801;9048968;9067310;9205951;9303561;9305846;9336327;9349523;9495870;9550290;9603189;9651336;9732398;9760039;9770463;9851589;9865521;9986723", "class_list": "", "function": "(Microbial infection) Acts as a receptor for human JC polyomavirus/JCPyV., [UniProtKB, PubMed]; Fibroblast expression of neurotransmitter receptor HTR2A associates with inflammation in rheumatoid arthritis joint. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:1330647, PubMed:18703043, PubMed:19057895, PubMed:21645528, PubMed:22300836, PubMed:35084960, PubMed:38552625). Also functions as a receptor for various drugs and psychoactive substances, including mescaline, psilocybin, 1-(2,5-dimethoxy-4-iodophenyl)-2-aminopropane (DOI) and lysergic acid diethylamide (LSD) (PubMed:28129538, PubMed:35084960). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:28129538, PubMed:35084960). HTR2A is coupled to G(q)/G(11) G alpha proteins and activates phospholipase C-beta, releasing diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) second messengers that modulate the activity of phosphatidylinositol 3-kinase and promote the release of Ca(2+) ions from intracellular stores, respectively (PubMed:18703043, PubMed:28129538, PubMed:35084960). Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways (PubMed:28129538, PubMed:35084960). Affects neural activity, perception, cognition and mood (PubMed:18297054). Plays a role in the regulation of behavior, including responses to anxiogenic situations and psychoactive substances. Plays a role in intestinal smooth muscle contraction, and may play a role in arterial vasoconstriction (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; G protein-specific mechanisms in the serotonin 5-HT2A receptor regulate psychosis-related effects and memory deficits. Publication Status: Online-Only, [RefSeq, PubMed]; G-protein coupled receptor for 5-hydroxytryptamine (serotonin)., [UniProtKB, UniProtKB]; Interaction between HTR2A rs3125 and negative life events in suicide attempts among patients with major depressive disorder: a cross-sectional study. Publication Status: Online-Only, [RefSeq, PubMed]; The Association Between the 5-Hydroxytryptamine Receptor 2A Gene Variants rs6311 and rs6313 and Obstructive Sleep Apnea in the Iranian Kurdish Population., [RefSeq, PubMed]; This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "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": 1, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 26, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RAC5;B4DZ79;F5GWE8;Q5T8C0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004993 G protein-coupled serotonin receptor activity;GO:0030594 neurotransmitter receptor activity;GO:0051378 serotonin binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0030424 axon;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0001659 temperature homeostasis;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007613 memory;GO:0008284 positive regulation of cell population proliferation;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P28223-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28335-1", "uniprot_id": [ { "id": "5HT2C_HUMAN", "url": "https://www.uniprot.org/uniprot/P28335", "type": "external" } ], "mass": 51805.0, "length": 458, "protein_name": "5-hydroxytryptamine receptor 2C", "gene_name": "HTR2C", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 2C isoform a precursor", "refseq_ac": [ { "id": "NP_000859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000859", "type": "external" } ], "gene_names_uniprotkb": "HTR2C; HTR1C", "gene_names_refseq": "5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C; HTR2C", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 2C; 5-HT-1C; 5-HT-2C; 5-HT1C; 5-HT2C; 5-HTR2C; 5-hydroxytryptamine receptor 1C; Serotonin receptor 2C", "protein_names_refseq": "5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled; 5-hydroxytryptamine receptor 1C; 5-hydroxytryptamine receptor 2C isoform a precursor; serotonin 5-HT-1C receptor; serotonin 5-HT-2C receptor", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); Prader-Willi syndrome (Disease Ontology:DOID:11983); major depressive disorder (Disease Ontology:DOID:1470); alcohol use disorder (Disease Ontology:DOID:1574); anxiety disorder (Disease Ontology:DOID:2030); asthma (Disease Ontology:DOID:2841); substance-related disorder (Disease Ontology:DOID:303); bipolar disorder (Disease Ontology:DOID:3312); schizophrenia (Disease Ontology:DOID:5419); cocaine abuse (Disease Ontology:DOID:809); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:3358); (R-HSA-390666); (R-HSA-416476)", "pathway_count": 3, "publication_count": 94, "publication_id_list": "10191087;10193663;10206230;10391209;10567430;10581480;10611634;10715164;10727532;10816555;10861009;11015615;11150294;11454652;11512051;11714892;11742120;11750183;11753430;12120503;12145108;12177684;12388666;12527336;12682077;12784105;12860470;12970106;1315531;1330647;1386736;14988405;1513320;15341484;15357957;15628665;1565658;15689356;15887956;15951850;16182515;16268778;16319069;16330560;16339447;16754659;16914526;16923326;1722404;18434541;18515384;18577758;18703043;18936096;19057895;1905813;19499624;20518729;20945968;21486038;22497996;2841328;29398112;3041384;3086311;7557992;7895773;7937899;8078486;8143856;8380639;8522988;8664309;8809227;8812491;8935801;9048968;9067310;9205951;9303561;9305846;9336327;9349523;9495870;9550290;9603189;9651336;9732398;9760039;9770463;9851589;9865521;9928237;9986723", "class_list": "", "function": "G protein-coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:12970106, PubMed:18703043, PubMed:19057895, PubMed:29398112, PubMed:7895773). Also functions as a receptor for various drugs and psychoactive substances, including ergot alkaloid derivatives, 1-2,5,-dimethoxy-4-iodophenyl-2-aminopropane (DOI) and lysergic acid diethylamide (LSD) (PubMed:19057895, PubMed:29398112). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:18703043, PubMed:29398112). HTR2C is coupled to G(q)/G(11) G alpha proteins and activates phospholipase C-beta, releasing diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) second messengers that modulate the activity of phosphatidylinositol 3-kinase and promote the release of Ca(2+) ions from intracellular stores, respectively (PubMed:18703043, PubMed:29398112). Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways (PubMed:29398112). Regulates neuronal activity via the activation of short transient receptor potential calcium channels in the brain, and thereby modulates the activation of pro-opiomelanocortin neurons and the release of CRH that then regulates the release of corticosterone (By similarity). Plays a role in the regulation of appetite and eating behavior, responses to anxiogenic stimuli and stress (By similarity). Plays a role in insulin sensitivity and glucose homeostasis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Predicted signal peptide in the N-terminal tail of the 5-HT(2C) receptor acts as a cleavable signal peptide, [RefSeq, PubMed]; This gene encodes a seven-transmembrane G-protein-coupled receptor. The encoded protein responds to signaling through the neurotransmitter serotonin. The mRNA of this gene is subject to multiple RNA editing events, where adenosine residues encoded by the genome are converted to inosines. RNA editing is predicted to alter the structure of the second intracellular loop, thereby generating alternate protein forms with decreased ability to interact with G proteins. Abnormalities in RNA editing of this gene have been detected in victims of suicide that suffer from depression. In addition, naturally-occuring variation in the promoter and 5' non-coding and coding regions of this gene may show statistically-significant association with mental illness and behavioral disorders. Alternative splicing results in multiple different transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]", "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": 13, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 15, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B1AMW4;Q5VUF8;Q9NP28", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004993 G protein-coupled serotonin receptor activity;GO:0030594 neurotransmitter receptor activity;GO:0051378 serotonin binding;GO:0001587 Gq/11-coupled serotonin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse;GO:0098666 G protein-coupled serotonin receptor complex", "go_biological_process": "GO:0007626 locomotory behavior;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0006874 intracellular calcium ion homeostasis;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P28335-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34969-1", "uniprot_id": [ { "id": "5HT7R_HUMAN", "url": "https://www.uniprot.org/uniprot/P34969", "type": "external" } ], "mass": 53555.0, "length": 479, "protein_name": "5-hydroxytryptamine receptor 7", "gene_name": "HTR7", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 7 isoform a", "refseq_ac": [ { "id": "NP_000863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000863", "type": "external" } ], "gene_names_uniprotkb": "HTR7", "gene_names_refseq": "5-HT7; HTR7", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 7; 5-HT-7; 5-HT-X; 5-HT7; Serotonin receptor 7", "protein_names_refseq": "5-HT-7; 5-HT-X; 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled); 5-hydroxytryptamine receptor 7 isoform a", "tax_id": 9606, "disease": "amnestic disorder (Disease Ontology:DOID:10914); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); childhood absence epilepsy (Disease Ontology:DOID:1825); anxiety disorder (Disease Ontology:DOID:2030); migraine (Disease Ontology:DOID:6364); irritable bowel syndrome (Disease Ontology:DOID:9778)", "pathway": " (hsa:3363); (R-HSA-390666); (R-HSA-418555)", "pathway_count": 3, "publication_count": 115, "publication_id_list": "10193663;10611634;10715164;11007482;11454652;11512051;11714892;11750183;12036966;12058044;12106601;12145108;12177684;12180353;12388666;12527336;12784105;12860470;1315531;1330647;13549488;1386736;14671004;1513320;1517224;15341484;15357957;15628665;1565658;15689356;15765929;15769620;15887956;15951850;16313925;16330560;16687412;16923326;17168849;18044684;18577758;19054851;19105585;19499624;19876791;19929708;20381629;20518729;21036126;21486038;2163110;22448645;23481700;2417744;24687066;2491850;2553411;2553705;26417854;2871555;29443750;29602314;3041384;30833991;3127824;31279028;31399091;31844290;31983287;32226383;32497535;32540603;32618402;32715661;32938616;33049737;33081564;33528589;33968037;34555475;35494241;35714614;36006564;36241641;6085243;7895773;8078486;8143856;8226867;8340388;8380639;8514797;8522988;8672451;8809227;8935801;9048968;9067310;9084407;9154233;9205951;9263355;9303561;9336327;9349523;9417641;9495870;9550290;9603189;9651336;9732398;9760039;9851589;9865521;9986723", "class_list": "", "function": "5-HT7 receptors as a new target for prostate cancer physiopathology and treatment: an experimental study on PC-3 cells and FFPE tissues., [RefSeq, PubMed]; 5-HT7 receptors in Alzheimer's disease., [RefSeq, PubMed]; Effects of 5-HT7 receptors on circadian rhythm of mice anesthetized with isoflurane., [RefSeq, PubMed]; G protein-coupled receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone and a mitogen (PubMed:35714614, PubMed:8226867). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:35714614, PubMed:8226867). HTR7 is coupled to G(s) G alpha proteins and mediates activation of adenylate cyclase activity (PubMed:35714614)., [UniProtKB, PubMed, PubMed]; Serotonin 5-HT7 receptor is a biomarker poor prognostic factor and induces proliferation of triple-negative breast cancer cells through FOXM1., [RefSeq, PubMed]; The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [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, "reported_n_glycosites": 2, "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": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B5BUP6;P78336;P78372;P78516;Q5VX01;Q5VX02;Q5VX03", "ec_number_list": [], "go_molecular_function": "GO:0004993 G protein-coupled serotonin receptor activity;GO:0030594 neurotransmitter receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0030425 dendrite;GO:0032588 trans-Golgi network membrane;GO:0045202 synapse", "go_biological_process": "GO:0006939 smooth muscle contraction;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0008015 blood circulation;GO:0007623 circadian rhythm", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "P34969-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50406-1", "uniprot_id": [ { "id": "5HT6R_HUMAN", "url": "https://www.uniprot.org/uniprot/P50406", "type": "external" } ], "mass": 46954.0, "length": 440, "protein_name": "5-hydroxytryptamine receptor 6", "gene_name": "HTR6", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 6", "refseq_ac": [ { "id": "NP_000862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000862", "type": "external" } ], "gene_names_uniprotkb": "HTR6", "gene_names_refseq": "5-HT6R; 5-HT6; HTR6", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 6; 5-HT-6; 5-HT6; Serotonin receptor 6", "protein_names_refseq": "5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled; 5-hydroxytryptamine receptor 6; serotonin receptor 6", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:3362); (R-HSA-390666); (R-HSA-418555)", "pathway_count": 3, "publication_count": 119, "publication_id_list": "10193663;10611634;10715164;11007482;11140838;11163544;11287786;11454652;11512051;11714892;11750183;12036966;12058044;12106601;12145108;12177684;12180353;12388666;12527336;12784105;12860470;1315531;1330647;13549488;1386736;14671004;1513320;1517224;15341484;15357957;15628665;1565658;15689356;15765929;15769620;15887956;15951850;16094384;16313925;16330560;16687412;16923326;17168849;18044684;18577758;19105585;19499624;19876791;19929708;20381629;20518729;21036126;21486038;2163110;23027611;23481700;2417744;24687066;24715725;2491850;2553411;2553705;26417854;2871555;29443750;29557506;29602314;3041384;30833991;3127824;31279028;31399091;31844290;31983287;32226383;32497535;32540603;32618402;32715661;32938616;33049737;33323464;33936100;34171305;35051231;35494241;35714614;36989299;37327704;38086448;6085243;7656980;7895773;8078486;8143856;8340388;8380639;8514797;8522988;8672451;8809227;8935801;9048968;9067310;9205951;9263355;9303561;9336327;9349523;9417641;9495870;9550290;9603189;9651336;9732398;9760039;9851589;9865521;9986723", "class_list": "", "function": "G protein-coupled receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone and a mitogen (PubMed:35714614, PubMed:36989299, PubMed:37327704, PubMed:8522988). Also has a high affinity for tricyclic psychotropic drugs (By similarity). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:35714614). HTR6 is coupled to G(s) G alpha proteins and mediates activation of adenylate cyclase activity (PubMed:35714614, PubMed:37327704). Controls pyramidal neurons migration during corticogenesis, through the regulation of CDK5 activity (By similarity). Is an activator of mTOR signaling (PubMed:23027611)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Peripheral 5-HT/HTR6 axis is responsible for obesity-associated hypertension., [RefSeq, PubMed]; This gene encodes a protein that belongs to the seven-transmembrane G protein-coupled receptor family of proteins. The encoded protein couples with the Gs alpha subunit and stimulates adenylate cyclase to activate the cyclic AMP-dependent signaling pathway. This receptor is thought to regulate cholinergic neuronal transmission in the brain. Several antidepressants and antipsychotic drugs have a high affinity for this receptor. [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, "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": 11, "reported_glycation": 0, "reported_snv": 7, "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": "Q13640;Q5TGZ1", "ec_number_list": [], "go_molecular_function": "GO:0004993 G protein-coupled serotonin receptor activity;GO:0030594 neurotransmitter receptor activity;GO:0004969 histamine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0030425 dendrite;GO:0045202 synapse", "go_biological_process": "GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway;GO:0021795 cerebral cortex cell migration;GO:0032008 positive regulation of TOR signaling", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "P50406-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55263-1", "uniprot_id": [ { "id": "ADK_HUMAN", "url": "https://www.uniprot.org/uniprot/P55263", "type": "external" } ], "mass": 40545.0, "length": 362, "protein_name": "Adenosine kinase", "gene_name": "ADK", "organism": "Human", "refseq_name": "adenosine kinase isoform a", "refseq_ac": [ { "id": "NP_001114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001114", "type": "external" } ], "gene_names_uniprotkb": "ADK", "gene_names_refseq": "ADK; AK", "protein_names_uniprotkb": "Adenosine kinase; 2.7.1.-; 2.7.1.20; AK; Adenosine 5'-phosphotransferase; N6,N6-dimethyladenosine kinase; N6-isopentenyladenosine kinase; N6-methyladenosine kinase", "protein_names_refseq": "N6,N6-dimethyladenosine kinase; N6-isopentenyladenosine kinase; N6-methyladenosine kinase; adenosine 5'-phosphotransferase; adenosine kinase isoform a; testicular tissue protein Li 14", "tax_id": 9606, "disease": "hypermethioninemia due to adenosine kinase deficiency (Disease Ontology:DOID:0111038); temporal lobe epilepsy (Disease Ontology:DOID:3328); brain infarction (Disease Ontology:DOID:3454); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:132); (R-HSA-74217); (R-HSA-9755088)", "pathway_count": 3, "publication_count": 130, "publication_id_list": "11237011;11427893;12009299;12112843;12499231;12606760;1429593;15861032;15917509;16265592;16359702;16446384;17154503;17412768;18399692;18635603;19164483;19635462;20068231;20096989;20173735;20486858;20504255;2104852;21396942;2159925;21755941;218932;21963049;22645359;227870;23301498;24107682;24714562;24957263;2539852;25576301;25880248;26154972;26642971;26992070;2737800;27500280;27862975;27920218;280136;28218747;28228285;2844225;2845866;28467828;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29580856;29632711;2999129;30045981;3029074;30315122;30379171;30410026;30429286;30524438;30573663;30716294;30779550;30833945;31020640;31217245;31520644;31530632;3182793;31844290;31848261;32144205;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33309011;33592498;33633747;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34357683;34479194;34932366;35051231;35318648;35561310;35580925;36010968;36181835;38699782;39899686;40840445;457664;6246102;6281270;6300847;6771276;8577746;8626464;8692979;8917457;9070863;9605565;9647364;9804782;9843365;9857047", "class_list": "", "function": "ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia., [RefSeq, PubMed]; Adenosine kinase inhibits beta-cell proliferation by upregulating DNA methyltransferase 3A expression., [RefSeq, PubMed]; Adenosine kinase that mediates the phosphorylation of the purine nucleoside adenosine at the 5' position in an ATP-dependent manner: catalyzes phosphorylation of both unmodified and modified adenosines. Plays a key role in the detoxification of modified adenosines containing N(6)-methylated adenine (m6A) post-transcriptional modification. Modified nucleosides are derived from the degradation of RNAs (mRNAs, rRNAs and tRNAs) and possess intrinsic cytotoxicity and must be cleared to prevent metabolic dysfunction. Catalyzes the phosphorylation of the free cytosolic methylated adenosine nucleotides N(6)-methyladenosine (m6A), N(6),N(6)-dimethyladenosine (m6,6A) and N(6)-isopentenyladenosine (i6A) into adenosine monophosphate (AMP) intermediates that are further detoxified by MAPDA/ADAL., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Genetic variations of adenosine kinase as predictable biomarkers of efficacy of vagus nerve stimulation in patients with pharmacoresistant epilepsy. Publication Status: Online-Only, [RefSeq, PubMed]; Hepatocyte Adenosine Kinase Promotes Excessive Fat Deposition and Liver Inflammation., [RefSeq, PubMed]; This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]., [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": 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": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z783;B7Z800;O00741;O00742;Q16710;Q5JQ10;Q5JQ11;Q9BTN2", "ec_number_list": [ { "id": "2.7.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.20", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0004001 adenosine kinase activity;GO:0004136 deoxyadenosine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0009156 ribonucleoside monophosphate biosynthetic process;GO:0044209 AMP salvage;GO:0006166 purine ribonucleoside salvage;GO:0006144 purine nucleobase metabolic process;GO:0110052 toxic metabolite repair", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "P55263-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56378-1", "uniprot_id": [ { "id": "ATP68_HUMAN", "url": "https://www.uniprot.org/uniprot/P56378", "type": "external" } ], "mass": 6662.0, "length": 58, "protein_name": "ATP synthase F(0) complex subunit j, mitochondrial", "gene_name": "ATP5MJ", "organism": "Human", "refseq_name": "ATP synthase F(0) complex subunit j, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001120865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120865", "type": "external" } ], "gene_names_uniprotkb": "ATP5MJ; ATP5MPL; C14orf2; MP68; PRO1574", "gene_names_refseq": "6.8PL; ATP5MJ; ATP5MPL; C14orf2; MLQ; MP68; PLPM", "protein_names_uniprotkb": "ATP synthase F(0) complex subunit j, mitochondrial; 6.8 kDa mitochondrial proteolipid protein; ATP synthase membrane subunit 6.8PL; MLQ", "protein_names_refseq": "6.8 kDa mitochondrial proteolipid protein; 6.8-kDa proteolipid with N-terminal sequence Met-Leu-Gln (MLQ); ATP synthase F(0) complex subunit j, mitochondrial isoform 2; ATP synthase F(0) complex subunit j, mitochondrial; ATP synthase membrane subunit 6.8PL; ATP synthase subunit ATP5MJ, mitochondrial; ATP synthase subunit ATP5MPL, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:9556); (R-HSA-163210); (R-HSA-8949613)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "11237011;17121862;17510655;17624330;18323778;20707881;20833715;21836051;22114354;22252321;22864911;24098383;24330338;24687277;24715725;25285856;25576301;25645385;25764979;25781180;25997101;26154972;26416881;26477565;26530328;26968360;26992070;27479602;27485409;27623147;27846572;27862975;27893789;28228285;28834231;28904123;29493099;29557506;29632711;29786170;30315122;31154438;31217245;31611695;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33298915;33392160;33717175;33936100;34087483;34357683;35051231;35580925;36010968;36284347;36581221;37244256;37938771;4517936;9653160", "class_list": "", "function": "MLQ is a potential regulator of the mitochondrial ATP synthesis, [RefSeq, PubMed]; Subunit j, 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 (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). 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 (PubMed:37244256). Minor subunit required to maintain the ATP synthase population in the mitochondria (PubMed:24330338)., [UniProtKB, PubMed, PubMed, UniProtKB]", "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": 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": "B2R588;G3V5Q3;Q86TT7", "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": 6.9, "record_id": "P56378-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15847-1", "uniprot_id": [ { "id": "ADIRF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15847", "type": "external" } ], "mass": 7855.0, "length": 76, "protein_name": "Adipogenesis regulatory factor", "gene_name": "ADIRF", "organism": "Human", "refseq_name": "adipogenesis regulatory factor", "refseq_ac": [ { "id": "NP_006820", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006820", "type": "external" } ], "gene_names_uniprotkb": "ADIRF; AFRO; APM2; C10orf116", "gene_names_refseq": "ADIRF; AFRO; APM2; C10orf116; apM-2", "protein_names_uniprotkb": "Adipogenesis regulatory factor; Adipogenesis factor rich in obesity; Adipose most abundant gene transcript 2 protein; Adipose-specific protein 2; apM-2", "protein_names_refseq": "adipogenesis factor rich in obesity; adipogenesis regulatory factor; adipose most abundant gene transcript 2 protein; adipose specific 2; adipose-specific protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10974); (R-HSA-381340)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10.1038/emboj.2013.79;10075656;10425206;11095972;11237011;11872672;12213831;12829629;15273253;15850785;15919796;16380219;17011499;17980149;18452278;18931025;19043829;19115207;19172745;19204726;19444912;20101261;23239344;23584533;26196085;29084195;29242379;29557506;30192525;30429286;30459171;30484775;31154438;31844290;31848261;33091337;33737617;35051231;35580925;36284347;37777989;8325954;8643605;8706692;8770873;8970730;9065481;9454824;9836620", "class_list": "", "function": "APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown. [provided by RefSeq, Jul 2008]., [RefSeq]; Adipose most abundant 2 protein is a predictive marker for cisplatin sensitivity in cancers. Publication Status: Online-Only, [RefSeq, PubMed]; C10orf116 loss was associated with higher pathological stage, higher clinical stage, and lymph node metastasis in prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Hypermethylation of the ADIRF promoter regulates its expression level and is involved in NNK-induced malignant transformation of lung bronchial epithelial cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in fat cell development; promotes adipogenic differentiation and stimulates transcription initiation of master adipogenesis factors like PPARG and CEBPA at early stages of preadipocyte differentiation. Its overexpression confers resistance to the anticancer chemotherapeutic drug cisplatin., [UniProtKB, PubMed, 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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "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": "diagnostic", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0045600 positive regulation of fat cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q15847-1", "record_type": "protein", "filter_code": "1000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16537-1", "uniprot_id": [ { "id": "2A5E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16537", "type": "external" } ], "mass": 54699.0, "length": 467, "protein_name": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform", "gene_name": "PPP2R5E", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform isoform a", "refseq_ac": [ { "id": "NP_001269108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269108", "type": "external" } ], "gene_names_uniprotkb": "PPP2R5E", "gene_names_refseq": "B56E; B56epsilon; PPP2R5E", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform; PP2A B subunit isoform B'-epsilon; PP2A B subunit isoform B56-epsilon; PP2A B subunit isoform PR61-epsilon; PP2A B subunit isoform R5-epsilon", "protein_names_refseq": "PP2A, B subunit, B' epsilon; PP2A, B subunit, B56 epsilon; PP2A, B subunit, PR61 epsilon; PP2A, B subunit, R5 epsilon; protein phosphatase 2 regulatory subunit B', epsilon; serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, epsilon; serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform isoform a", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); transient cerebral ischemia (Disease Ontology:DOID:224)", "pathway": " (hsa:5529); (R-HSA-141430); (R-HSA-141444); (R-HSA-195253); (R-HSA-196299); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-389356); (R-HSA-389513); (R-HSA-432142); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5663220); (R-HSA-5673000); (R-HSA-5675221); (R-HSA-6811558); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 25, "publication_count": 330, "publication_id_list": "10023660;10092233;10196136;10205168;10206983;10411507;10415025;10421629;10428961;10481074;10487827;10490027;10581160;10600384;10678165;10684251;10694513;10698523;10700176;10702794;10712905;10749138;10754332;10757792;10799894;10862053;10891492;10921899;10958683;11032810;11081627;11181178;11325826;11336703;11371342;11375957;11494123;11509732;11522655;11535616;11707456;11738041;11741534;11746989;11756411;11804586;11861647;11955436;11976720;11994459;12000790;12006501;12067995;12101426;12194817;12244094;12429848;12439748;12474228;12551923;12554650;12577064;12583813;12679384;12732141;12775720;12805219;12820959;12852857;12876557;12932319;12932339;1325671;14530258;14724641;14730319;14731402;15006353;15035987;15073180;15084453;15085137;15142525;15258589;15306667;15327769;15339662;15459198;15467451;15507212;15664191;15681612;15710605;15711535;15723797;15735151;15737063;15851477;15864301;15866170;15899852;15944396;16041367;16082208;16093354;16292343;16294014;16341016;16341017;16364920;16439214;16456541;16508002;16537381;16541025;16551244;16622419;16622420;16630891;16682347;16753179;16818765;16890161;16890222;16892053;16943183;17030981;17081983;17097642;17112726;17113138;17129783;17143292;17183061;17196341;17198702;17200115;17204608;17318175;17339487;1737036;17510365;17529994;17569865;17724343;18001770;18077588;18097444;18281465;18294816;18311776;18332145;18339531;18362152;18515281;18547165;18606139;18632848;18662992;18691976;18716626;18757411;18923426;19049963;19061640;19091743;19107203;19158341;19237556;19350017;19405949;19541618;19576174;19619488;19684605;19696148;19727074;19760609;19802005;19815554;19933846;19965387;20030946;20101212;20227366;20332238;20591975;20674547;20820846;21111234;21148482;21183070;21183076;21248786;21252990;21397845;21406692;21441104;21441910;21576392;21779496;21868368;21878504;21987589;22094460;22101459;22275430;22438566;22592532;22608513;22730326;22761442;22790947;22885700;23074275;23105109;23186163;23222643;23256519;23360980;23481700;23579495;23801653;23863182;23906342;23993095;24121489;24211266;24347342;24714562;24914801;24937142;25314968;25576301;25597358;25645385;25740311;25789526;25892735;25907612;25965804;26154972;26343583;26375851;26728094;26992070;27264673;27999210;28082416;28289718;28666118;28832583;28904123;28984291;29461827;29493099;29557506;30315122;30429286;30833945;31154438;31217245;31222486;31409757;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34260926;34357683;34509645;34561969;34932366;35051231;35580925;36010968;36241641;36284347;36581221;37175484;40914422;7542586;7744815;8259518;8259519;8521512;8521513;8521514;8609386;8637718;8638126;8638161;8649453;8694763;8703017;8757136;8876196;8946678;8946910;9020159;9034327;9065402;9230313;9234708;9482734;9556553;9601641;9635432;9649308;9649503;9689060;9712716;9823899;9858547;9892021;9973466;9990852", "class_list": "", "function": "Deregulation of the miR-19b/PPP2R5E Signaling Axis Shows High Functional Impact in Colorectal Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment., [UniProtKB]; The protein encoded by this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several 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, "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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "A4FU37;B7ZAW5;B7ZKK8;B7ZKK9;J3KQN6;Q52LW4", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0072542 protein phosphatase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000159 protein phosphatase type 2A complex", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 33.3, "record_id": "Q16537-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NTF7-1", "uniprot_id": [ { "id": "ABC3H_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NTF7", "type": "external" } ], "mass": 23532.0, "length": 200, "protein_name": "DNA dC->dU-editing enzyme APOBEC-3H", "gene_name": "APOBEC3H", "organism": "Human", "refseq_name": "DNA dC->dU-editing enzyme APOBEC-3H isoform SV-182", "refseq_ac": [ { "id": "NP_001159474", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159474", "type": "external" } ], "gene_names_uniprotkb": "APOBEC3H", "gene_names_refseq": "A3H; APOBEC3H; ARP-10; ARP10", "protein_names_uniprotkb": "DNA dC->dU-editing enzyme APOBEC-3H; 3.5.4.38; A3H; APOBEC-related protein 10; ARP-10; Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3H", "protein_names_refseq": "APOBEC-related protein 10; DNA dC->dU-editing enzyme APOBEC-3H isoform SV-182; DNA dC->dU-editing enzyme APOBEC-3H; apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H", "tax_id": 9606, "disease": "", "pathway": " (hsa:164668); (R-HSA-72200); (R-HSA-75094)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "11237011;11718896;12683974;15659357;16571802;16920826;18299330;18304004;18403710;18477386;18779051;18827027;18945781;20062055;20308164;21653666;21835787;22001110;22457529;22912627;22915799;23097438;23481700;25589627;25892735;28218747;28832583;28834231;29242379;29290613;29493099;31322199;31400856;31578294;31844290;32157095;32265295;32502341;32775421;33141586;33298915;33392160;33717175;33936100;34774569;37640699;8208612", "class_list": "", "function": "A3H inhibits HIV-1 replication potently by a cytidine deamination-independent mechanism, [RefSeq, PubMed]; APOBEC3 proteins APOBEC3F (A3F), APOBEC3G (A3G), and APOBEC3H (A3H) are host restriction factors that inhibit HIV-1 through DNA cytidine deaminase-dependent and -independent mechanisms and have either one (A3H) or two (A3F and A3G) zinc-binding domains. Publication Status: Online-Only, [RefSeq, PubMed]; Association between APOBEC3H-Mediated Demethylation and Immune Landscape in Head and Neck Squamous Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms (PubMed:16571802, PubMed:16920826, PubMed:18779051, PubMed:18827027, PubMed:20062055, PubMed:22915799, PubMed:29290613). The A3H-var/haplotype 2 exhibits antiviral activity against vif-deficient HIV-1 (PubMed:18299330, PubMed:21835787, PubMed:23097438, PubMed:29290613). After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA (PubMed:18299330). The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells (PubMed:18299330). Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA (PubMed:20062055). Exhibits antiviral activity also against T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons (PubMed:20062055, PubMed:22457529)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Differential Activity of APOBEC3F, APOBEC3G, and APOBEC3H in the Restriction of HIV-2., [RefSeq, PubMed]; Genetic variations in APOBEC3 genes may affect the efficiency of hepatitis b virus elimination in humans., [RefSeq, PubMed]; Study provides evidence of editing of human papillomavirus 1a and 16 DNA by APOBEC3 in plantar warts and precancerous cervix biopsies, [RefSeq, PubMed]; The anti-HIV activity of APOBEC3H seems to be regulated by a combination of genomic variation and alternative splicing., [RefSeq, PubMed]; These findings suggested that there was no relationship between A3A, A3B and A3H single nucleotide polymorphisms and chronic hepatitis B progression or hepatocellular carcinoma development in the Han Chinese population., [RefSeq, PubMed]; This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.[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, "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": 33, "reported_glycation": 0, "reported_snv": 2, "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": "B0QYP0;B0QYP1;B7TQM5;E9PF38;M4W6S4;Q5JYL9;Q6IC87", "ec_number_list": [ { "id": "3.5.4.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.38", "type": "external" }, { "id": "3.5.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.-", "type": "external" }, { "id": "3.5.4.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.36", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0004126 cytidine deaminase activity;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body", "go_biological_process": "GO:0016554 cytidine to uridine editing;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0070383 DNA cytosine deamination;GO:0045869 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q6NTF7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L8J4-1", "uniprot_id": [ { "id": "3BP5L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L8J4", "type": "external" } ], "mass": 43499.0, "length": 393, "protein_name": "SH3 domain-binding protein 5-like", "gene_name": "SH3BP5L", "organism": "Human", "refseq_name": "SH3 domain-binding protein 5-like isoform 2", "refseq_ac": [ { "id": "NP_001309391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309391", "type": "external" } ], "gene_names_uniprotkb": "SH3BP5L; KIAA1720; PRO7133", "gene_names_refseq": "SH3BP5L", "protein_names_uniprotkb": "SH3 domain-binding protein 5-like; SH3BP-5-like", "protein_names_refseq": "SH3 domain-binding protein 5-like isoform 2; SH3 domain-binding protein 5-like; SH3BP-5-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:80851)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11230166;12975309;18452278;18669648;19651622;19690332;20068231;20166139;23186163;24275569;25576301;27846572;29242379;30217979;31154438;32157095;32350084;32387766;32938616;32983136;33912179;33981976;34087483;35051231;35251023;36284347", "class_list": "", "function": "Functions as a guanine nucleotide exchange factor (GEF) for RAB11A., [UniProtKB, 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": 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": 8, "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": "B4DQ94;Q96FI5;Q9BQH8;Q9C0E3", "ec_number_list": [], "go_molecular_function": "GO:0004860 protein kinase inhibitor activity;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q7L8J4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4H4-1", "uniprot_id": [ { "id": "ADM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4H4", "type": "external" } ], "mass": 15865.0, "length": 148, "protein_name": "Protein ADM2", "gene_name": "ADM2", "organism": "Human", "refseq_name": "protein ADM2 preproprotein", "refseq_ac": [ { "id": "NP_001240774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240774", "type": "external" } ], "gene_names_uniprotkb": "ADM2; AM2", "gene_names_refseq": "ADM2; AM2; dJ579N16.4", "protein_names_uniprotkb": "Protein ADM2; IMDL; Intermedin-long; Intermedin", "protein_names_refseq": "intermedin; protein ADM2 preproprotein; protein ADM2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79924); (R-HSA-418555); (R-HSA-419812)", "pathway_count": 3, "publication_count": 95, "publication_id_list": "10217420;11007482;11693189;12036966;12058044;12106601;12180353;12860470;1331173;13549488;14615490;14671004;14706825;14722252;1517224;15765929;15769620;15951850;16313925;16359754;16687412;16923326;17008878;17168849;17346853;17665333;18044684;18577758;19105585;19876791;19929708;20381629;20573757;21036126;2163110;2177866;23153230;24169554;2417744;24687066;2491850;25297013;2553411;2553705;2608057;26417854;26432182;26559125;26992070;28514659;2871555;29171818;29255900;29443750;29602314;2985435;30833991;3127824;31279028;31311674;31399091;31556018;31611695;31800988;31983287;32145209;32226383;32266704;32296767;32350084;32497535;32540603;32618402;32636324;32715661;32851644;33049737;33936100;37146967;37879153;38087182;38878805;6085243;6148938;6609312;8340388;8387282;8514797;8626685;8672451;9212325;9263355;9417641;9620797;9651336", "class_list": "", "function": "ADM2 may be related to the central and peripheral regulation of the circulation and water-electrolyte metabolism, [RefSeq, PubMed]; Adrenomedullin 2/intermedin is a slow off-rate, long-acting endogenous agonist of the adrenomedullin2 G protein-coupled receptor., [RefSeq, PubMed]; Calcitonin gene-related peptide and intermedin induce phosphorylation of p44/42 MAPK in primary human lymphatic endothelial cells in vitro., [RefSeq, PubMed]; IMD expressed by pericytes in has a role in susceptibility of the skin of atopic dermatitis patients to inflammatory stimuli, [RefSeq, PubMed]; Intermedin alleviates diabetic vascular calcification by inhibiting GLUT1 through activation of the cAMP/PKA signaling pathway., [RefSeq, PubMed]; Intermedin is a calcitonin/calcitonin gene-related peptide family peptide acting through the calcitonin receptor-like receptor/receptor activity-modifying protein receptor complexes, [RefSeq, PubMed]; Intermedin/ADM2 is a peptide hormone that plays a role as physiological regulator of gastrointestinal and cardiovascular bioactivities mediated by the CALCRL-RAMPs receptor complexes (PubMed:14615490). Activates the cAMP-dependent pathway through interaction with CALCRL-RAMP3 receptor complex (PubMed:14615490)., [UniProtKB, PubMed]; Reduced PATL2 Impairs the Proliferation of Ovarian Granulosa Cells by Decreasing ADM2 Expression in Patients with PCOS., [RefSeq, PubMed]; Study has shown expression of AM2/IMD in various types of cells in the central nervous system and the cardiovascular system, and suggested possible (patho)physiological roles of AM2/IMD in these systems., [RefSeq, PubMed]; This gene encodes a member of the calcitonin gene-related peptide (CGRP)/calcitonin family of hormones that play a role in the regulation of cardiovascular homeostasis, prolactin release, anti-diuresis, anti-natriuresis, and regulation of food and water intake. The encoded protein is proteolytically processed to generate one or more biologically active peptides. [provided by RefSeq, Jul 2015]., [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": 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": "Q3LFQ0", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0001525 angiogenesis;GO:0006468 protein phosphorylation;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0010628 positive regulation of gene expression;GO:0045766 positive regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q7Z4H4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5M8-1", "uniprot_id": [ { "id": "AB12B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5M8", "type": "external" } ], "mass": 40776.0, "length": 362, "protein_name": "Protein ABHD12B", "gene_name": "ABHD12B", "organism": "Human", "refseq_name": "protein ABHD12B isoform a", "refseq_ac": [ { "id": "NP_001193602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193602", "type": "external" } ], "gene_names_uniprotkb": "ABHD12B; C14orf29", "gene_names_refseq": "ABHD12B; BEM46L3; C14orf29; c14_5314", "protein_names_uniprotkb": "Protein ABHD12B; 3.-.-.-; Abhydrolase domain-containing protein 12B; Alpha/beta hydrolase domain-containing protein 12B", "protein_names_refseq": "abhydrolase domain-containing protein 12B; alpha/beta hydrolase domain-containing protein 12B; protein ABHD12B isoform a; protein ABHD12B", "tax_id": 9606, "disease": "", "pathway": " (hsa:145447)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "16959974;26811146;29351928;30379171;32502341;33091337", "class_list": "", "function": "", "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "Q3KNR9;Q3KNS0;Q7Z5M6;Q7Z5M7;Q8N4D2", "ec_number_list": [], "go_molecular_function": "GO:0047372 monoacylglycerol lipase activity;GO:0004622 phosphatidylcholine lysophospholipase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0052651 monoacylglycerol catabolic process;GO:0006660 phosphatidylserine catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q7Z5M8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUX4-1", "uniprot_id": [ { "id": "ABC3F_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUX4", "type": "external" } ], "mass": 45020.0, "length": 373, "protein_name": "DNA dC->dU-editing enzyme APOBEC-3F", "gene_name": "APOBEC3F", "organism": "Human", "refseq_name": "DNA dC->dU-editing enzyme APOBEC-3F isoform b", "refseq_ac": [ { "id": "NP_001006667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006667", "type": "external" } ], "gene_names_uniprotkb": "APOBEC3F", "gene_names_refseq": "A3F; APOBEC3F; ARP8; BK150C2.4.MRNA; KA6", "protein_names_uniprotkb": "DNA dC->dU-editing enzyme APOBEC-3F; 3.5.4.38; A3F; Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3F", "protein_names_refseq": "DNA dC->dU-editing enzyme APOBEC-3F isoform b; DNA dC->dU-editing enzyme APOBEC-3F; apolipoprotein B editing enzyme catalytic polypeptide-like 3F; apolipoprotein B mRNA editing enzyme cytidine deaminase; apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3F; induced upon T-cell activation", "tax_id": 9606, "disease": "", "pathway": " (hsa:200316)", "pathway_count": 1, "publication_count": 93, "publication_id_list": "11863358;12683974;15141007;15152192;16378963;16527742;16699599;17020885;17121840;18304004;18448976;19458006;20062055;20219927;20308164;20335265;21496894;21835787;22001110;22190037;22544926;22807680;22912627;22915799;23001005;23097438;23152537;23318957;23475216;23481700;24366607;25418920;25548167;25576301;25645385;25892735;26154972;26375851;26992070;27139641;27397612;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29769354;30315122;30986508;31217245;31792451;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34078123;34171305;34185709;34211107;34405274;34561969;34774569;34932366;35051231;35561310;35580925;36010968;36241641;36284347;36851677;37224627", "class_list": "", "function": "APOBEC3F Is a Mutational Driver of the Human Monkeypox Virus Identified in the 2022 Outbreak., [RefSeq, PubMed]; Analysis of the dependence of the deamination rate of human APOBEC3F on the length of single-stranded DNA, which is affected by the concentrations of APOBEC3F and single-stranded DNA, [RefSeq, PubMed]; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms (PubMed:15141007, PubMed:20062055, PubMed:22915799, PubMed:34774569). Exhibits antiviral activity against viruse such as HIV-1 or HIV-2 (PubMed:15141007, PubMed:15152192, PubMed:20219927, PubMed:21835787, PubMed:22807680, PubMed:23001005, PubMed:23097438, PubMed:23152537, PubMed:34774569). After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA (PubMed:15141007). The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells (PubMed:15141007). Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA (PubMed:15141007). Exhibits antiviral activity also against hepatitis B virus (HBV), equine infectious anemia virus (EIAV), xenotropic MuLV-related virus (XMRV) and simian foamy virus (SFV) and may inhibit the mobility of LTR and non-LTR retrotransposons (PubMed:16378963, PubMed:16527742, PubMed:19458006, PubMed:20062055, PubMed:20335265). May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation (PubMed:21496894)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Differential Activity of APOBEC3F, APOBEC3G, and APOBEC3H in the Restriction of HIV-2., [RefSeq, PubMed]; Stability of APOBEC3F in the Presence of the APOBEC3 Antagonist HIV-1 Vif Increases at the Expense of Co-Expressed APOBEC3H Haplotype I. Publication Status: Online-Only, [RefSeq, PubMed]; The cryo-EM structure of the Vif-targeted C-terminal domain of human A3F in complex with HIV-1 Vif and the cellular cofactor core-binding factor beta (CBFbeta) at 3.9-A resolution shows that Vif and CBFbeta form a platform to recruit A3F, revealing a direct A3F-recruiting role of CBFbeta beyond Vif stabilization, and it captures multiple independent A3F-Vif interfaces., [RefSeq, PubMed]; This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [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, "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": 31, "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": "B0QYD4;Q45F03;Q6ICH3;Q7Z2N2;Q7Z2N5", "ec_number_list": [ { "id": "3.5.4.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.38", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0004126 cytidine deaminase activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000932 P-body;GO:0030895 apolipoprotein B mRNA editing enzyme complex;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0044029 positive regulation of gene expression via chromosomal CpG island demethylation;GO:0016554 cytidine to uridine editing;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0070383 DNA cytosine deamination", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q8IUX4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZF2-1", "uniprot_id": [ { "id": "AGRF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZF2", "type": "external" } ], "mass": 149457.0, "length": 1346, "protein_name": "Adhesion G protein-coupled receptor F5", "gene_name": "ADGRF5", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor F5 precursor", "refseq_ac": [ { "id": "NP_001091988", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091988", "type": "external" } ], "gene_names_uniprotkb": "ADGRF5; GPR116; KIAA0758", "gene_names_refseq": "ADGRF5; GPR116; KPG_001", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor F5; G protein-coupled receptor 116", "protein_names_refseq": "Ig-Hepta homolog; adhesion G protein-coupled receptor F5 precursor; probable G-protein coupled receptor 116", "tax_id": 9606, "disease": "", "pathway": " (hsa:221395); (R-HSA-5683826)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10.1038/emboj.2013.79;10368295;10485905;10496952;10580105;10625644;11278984;11563989;12185598;12435584;12679517;12882447;1325798;1339284;1415726;1568474;15926889;16006481;16199866;16335952;1636732;16423266;16630564;17496061;18020944;18308334;18452278;18692472;1898081;19100526;19144824;1928448;19824815;20054143;20147294;20338813;20418254;23069847;23090970;23584533;23590306;23684610;23922714;24743970;2515193;25424900;25645385;25713288;2587265;2610270;26992070;27452731;27862975;28570277;29391424;29557506;29671580;2995821;3037072;30429286;30459171;31154438;31844290;31848261;32157095;33091337;3366248;33968037;34016966;34185709;34631;35051231;35580925;36073784;36497132;36878303;37074911;3755136;37938771;3801783;38937435;39001944;7597036;8314870;8428971;8522976;8527267;8636114;9813380", "class_list": "", "function": "Adhesion G protein-coupled receptor (PubMed:28570277). In alveolar type II (ATII or AT2) cells, required for normal lung surfactant homeostasis (PubMed:28570277). Modulation of both surfactant secretion and uptake by ATII cells is mediated by the downstream activation of GNAQ/GNA11 proteins and may be a consequence of increased cortical F-actin assembly induced by ADGRF5 activation (PubMed:28570277). In the kidney, may play a role in the regulation of acid excretion into the primary urine, possibly by regulating the surface expression of V-ATPase proton pump (By similarity). As a receptor for soluble FNDC4 (sFNDC4), required for proper systemic glucose tolerance, specifically sensitizing white adipose tissue to insulin. Also plays a role in sFNDC4-induced decrease of local inflammation in white adipose tissue (PubMed:34016966)., [UniProtKB, UniProtKB, PubMed, PubMed]; GPR116 alleviates acetaminophen-induced liver injury in mice by inhibiting endoplasmic reticulum stress. Publication Status: Online-Only, [RefSeq, PubMed]; Orphan GPR116 mediates the insulin sensitizing effects of the hepatokine FNDC4 in adipose tissue. Publication Status: Online-Only, [RefSeq, PubMed]; SEA domain autoproteolysis accelerated by conformational strain. Erratum:[J Mol Biol. 2008 Jun 27;380(1):264], [RefSeq, PubMed]; The Expression Pattern of Adhesion G Protein-Coupled Receptor F5 Is Related to Cell Adhesion and Metastatic Pathways in Colorectal Cancer-Comprehensive Study Based on In Silico Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The adhesion-GPCR ADGRF5 fuels breast cancer progression by suppressing the MMP8-mediated antitumorigenic effects. Publication Status: Online-Only, [RefSeq, PubMed]; The clinical relevance of the adhesion G protein-coupled receptor F5 for human diseases and cancers. Review article, [RefSeq, PubMed]", "predicted_glycosites": 10, "predicted_n_glycosites": 10, "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": 11, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 16, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 16, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 16, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 91, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 68, "disease_count": 0, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "O94858;Q5TF06;Q6RGN2;Q86SP0;Q9Y3Z2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0045177 apical part of cell;GO:0031410 cytoplasmic vesicle", "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:0043129 surfactant homeostasis;GO:0042593 glucose homeostasis", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "Q8IZF2-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDY3-1", "uniprot_id": [ { "id": "ACTT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDY3", "type": "external" } ], "mass": 41702.0, "length": 377, "protein_name": "Actin-related protein T2", "gene_name": "ACTRT2", "organism": "Human", "refseq_name": "actin-related protein T2", "refseq_ac": [ { "id": "NP_536356", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_536356", "type": "external" } ], "gene_names_uniprotkb": "ACTRT2; ARPM2", "gene_names_refseq": "ACTRT2; ARPM2; ARPT2; Arp-T2; HARPM2", "protein_names_uniprotkb": "Actin-related protein T2; ARP-T2; Actin-related protein M2", "protein_names_refseq": "actin-related protein M2; actin-related protein T2; actin-related protein hArpM2", "tax_id": 9606, "disease": "", "pathway": " (hsa:140625)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11750065;12243744;29557506;35051231", "class_list": "", "function": "Describes the discovery of two actin-related proteins as major components in a cytoskeletal, nonmotile structure of bull spermatozoa, suggesting that certain members of this family of proteins may serve functions other than nucleation of actin filaments., [RefSeq, PubMed]; The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [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, "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": 8, "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": "B1AN52;Q8NHS6;Q8TDG1", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton", "go_cellular_component": "GO:0015629 actin cytoskeleton", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8TDY3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AK3-1", "uniprot_id": [ { "id": "ABC3D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AK3", "type": "external" } ], "mass": 46598.0, "length": 386, "protein_name": "DNA dC->dU-editing enzyme APOBEC-3D", "gene_name": "APOBEC3D", "organism": "Human", "refseq_name": "DNA dC->dU-editing enzyme APOBEC-3D isoform 1", "refseq_ac": [ { "id": "NP_689639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689639", "type": "external" } ], "gene_names_uniprotkb": "APOBEC3D; APOBEC3DE", "gene_names_refseq": "A3DE; A3D; APOBEC3DE; APOBEC3D; APOBEC3E; ARP6", "protein_names_uniprotkb": "DNA dC->dU-editing enzyme APOBEC-3D; 3.5.4.38; A3DE; A3D", "protein_names_refseq": "DNA dC->dU-editing enzyme APOBEC-3D isoform 1; apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D; apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene; probable DNA dC->dU-editing enzyme APOBEC-3D", "tax_id": 9606, "disease": "", "pathway": " (hsa:140564)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;11863358;12683974;12859895;16920826;18304004;18477386;20062055;20308164;21835787;22001110;22424782;22807680;22912627;22915799;23001005;23097438;23152537;24714562;24715725;25330146;26154972;26811146;26992070;27289067;27428332;27439715;27920218;28063628;28904123;29557506;29632046;29786170;31217245;31844290;31998317;32157095;32265295;32357974;32502341;32533515;33592498;34185709;34932366;37938771", "class_list": "", "function": "(Microbial infection) Enhances hepatitis B virus/HBV replication by excluding restriction factors APOBEC3F and APOBEC3G from HBV capsids., [UniProtKB, PubMed]; APOBEC3D/F and APOBEC3G fundamentally work as restriction factors against HIV-1 in vivo Publication Status: Online-Only, [RefSeq, PubMed]; APOBEC3DE binds to itself, APOBEC3F, and APOBEC3G and antagonizes APOBEC3F and, to a lesser extent, APOBEC3G restriction of hepatitis B virus replication., [RefSeq, PubMed]; APOBEC3DE inhibits human LINE-1 retrotransposition. Publication Status: Online-Only, [RefSeq, PubMed]; Alternative splicing of APOBEC3D generates functional diversity and its role as a DNA mutator., [RefSeq, PubMed]; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms (PubMed:16920826, PubMed:20062055, PubMed:21835787). Exhibits antiviral activity against HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA (PubMed:16920826). The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA. Also inhibits the mobility of LTR and non-LTR retrotransposons (PubMed:27428332)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; These results indicate that APOBEC3 proteins can be copackaged and can comutate the same genomes, and can cooperate to inhibit HIV replication., [RefSeq, PubMed]; This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [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, "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": 13, "reported_glycation": 0, "reported_snv": 2, "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": "Q5JZ91;Q7Z2N2;Q7Z2N5;Q7Z2N6", "ec_number_list": [ { "id": "3.5.4.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.38", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0004126 cytidine deaminase activity;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000932 P-body", "go_biological_process": "GO:0016554 cytidine to uridine editing;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0070383 DNA cytosine deamination;GO:0045869 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q96AK3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96J66-1", "uniprot_id": [ { "id": "MRP8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96J66", "type": "external" } ], "mass": 154301.0, "length": 1382, "protein_name": "ATP-binding cassette sub-family C member 11", "gene_name": "ABCC11", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family C member 11 isoform a", "refseq_ac": [ { "id": "NP_115972", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115972", "type": "external" } ], "gene_names_uniprotkb": "ABCC11; MRP8", "gene_names_refseq": "ABCC11; EWWD; MRP8; WW", "protein_names_uniprotkb": "ATP-binding cassette sub-family C member 11; 7.6.2.2; 7.6.2.3; Multidrug resistance-associated protein 8", "protein_names_refseq": "ATP-binding cassette protein C11; ATP-binding cassette sub-family C member 11 isoform a; ATP-binding cassette sub-family C member 11; ATP-binding cassette transporter MRP8; ATP-binding cassette transporter sub-family C member 11; ATP-binding cassette, sub-family C (CFTR/MRP), member 11; multi-resistance protein 8; multidrug resistance-associated protein 8", "tax_id": 9606, "disease": "obsolete apocrine gland secretion, variation 1n (MONDO:MONDO:0044224)", "pathway": " (hsa:85320); (R-HSA-382556)", "pathway_count": 2, "publication_count": 84, "publication_id_list": "10484077;10665657;10748049;11237011;11483364;11504826;11562789;11591886;11688999;11812794;12379217;12379510;12403779;12604685;12764137;1352877;1356264;1359686;1377674;14661924;15175422;15472518;15537867;15863492;15899824;16359813;16444273;16816140;16901789;17523162;17855752;17894550;17977821;18282684;18434309;19002207;19383836;19447222;19570978;19664994;1968359;19710689;19862647;1998343;20583968;20621639;20937735;21655989;22178883;23063411;24019521;24685677;2475911;25133187;25645385;2570070;25896536;26208431;27281343;27543614;28132103;28904123;2898143;29557506;29786170;32938616;32981041;33530206;33722103;3457471;3472246;34951141;35051231;35078690;38750405;39894887;7523390;7529176;7553863;7553864;7865904;9652413;9816258;9831708", "class_list": "", "function": "ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds and xenobiotics from cells. Plays a role in physiological processes involving bile acids, conjugated steroids and cyclic nucleotides, including cAMP and cGMP (PubMed:12764137, PubMed:15537867). Mediates the ATP-dependent efflux of a range of physiological lipophilic anions, including the glutathione S-conjugates leukotriene C4 and dinitrophenyl S-glutathione, steroid sulfates, such as dehydroepiandrosterone 3-sulfate (DHEAS) and estrone 3-sulfate, glucuronides such as estradiol 17-beta-D-glucuronide (E(2)17betaG), the monoanionic bile acids glycocholate and taurocholate, and methotrexate (PubMed:15537867, PubMed:16359813, PubMed:25896536). Plays a role in the transport of earwax components (PubMed:16444273, PubMed:19383836). Participates in the secretion of odorants and their precursors from the apocrine sweat glands, including the secretion of glutamine conjugates, as well as the Cys-Gly-(S) conjugates of 3-methyl-3-sulfanyl-hexanol (PubMed:19710689). Involved in the cellular extrusion of nucleotide analogs, hence confering resistance to various drugs, including clinically relevant drugs such as 5-fluorouracil (5-FU) and methotrexate (PubMed:12764137, PubMed:15537867, PubMed:25896536)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Alternative splice variants and gene expression, [RefSeq, PubMed]; Association Between Earwax-Determinant Genotypes and Acquired Middle Ear Cholesteatoma in a Japanese Population., [RefSeq, PubMed]; Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population., [RefSeq, PubMed]; Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON)., [RefSeq, PubMed]; Functional characterization of variants in human ABCC11, an axillary osmidrosis risk factor., [RefSeq, PubMed]; Mutation differences in circulating tumor DNAs from non-small cell lung cancer patients between Uygur and Han populations., [RefSeq, PubMed]; The 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 ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [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": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "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": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8TDJ0;Q96JA6;Q9BX80", "ec_number_list": [ { "id": "7.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.2", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "7.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.3", "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:0005524 ATP binding;GO:0022857 transmembrane transporter activity;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0008559 ABC-type xenobiotic transporter activity;GO:0015432 ABC-type bile acid transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0030659 cytoplasmic vesicle membrane;GO:0005774 vacuolar membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0015721 bile acid and bile salt transport;GO:0015711 organic anion transport;GO:0015865 purine nucleotide transport;GO:0042908 xenobiotic transport", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q96J66-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BY15-1", "uniprot_id": [ { "id": "AGRE3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BY15", "type": "external" } ], "mass": 72621.0, "length": 652, "protein_name": "Adhesion G protein-coupled receptor E3", "gene_name": "ADGRE3", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor E3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001276087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276087", "type": "external" } ], "gene_names_uniprotkb": "ADGRE3; EMR3; PRO1562", "gene_names_refseq": "ADGRE3; EMR3", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor E3; EGF-like module receptor 3; EGF-like module-containing mucin-like hormone receptor-like 3", "protein_names_refseq": "EGF-like module receptor 3; EGF-like module-containing mucin-like hormone receptor-like 3; adhesion G protein-coupled receptor E3 isoform 2 precursor; egf-like module containing, mucin-like, hormone receptor-like 3; egf-like module-containing mucin-like receptor 3", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094)", "pathway": " (hsa:84658); (R-HSA-373080); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "10097073;11237011;11279179;11297558;12098667;12559132;12975309;15498814;16602827;17081983;17108056;17924679;18801728;20237496;20625511;20827226;20966082;23650620;25418920;25713288;28228285;29557506;32387766;32488085;32983136;34755660;3616618;36215666;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8692836;8732687;8770894;8906787;9064337", "class_list": "", "function": "Additional transcription changes likely associated with Th2-like eosinophilic inflammation were prominent and included increased EMR1&3. Publication Status: Online-Only, [RefSeq, PubMed]; Given the poor survival associated with high levels of EMR-3 expression in glioma patients, impetus is provided to explore EMR-3 as a potential therapeutic target., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Orphan receptor that may play a role myeloid-myeloid interactions during immune and inflammatory responses. A ligand for the soluble form of this receptor is present at the surface of monocytes-derived macrophages and activated neutrophils., [UniProtKB, PubMed]; The expression of EGF-TM7 receptors on myeloid cells is differentially regulated. EMR3 is the first family member found mainly on granulocytes., [RefSeq, PubMed]; This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]., [RefSeq]; [Peripheral blood EMR3 gene methylation level is correlated with breast cancer in Chinese women]., [RefSeq, PubMed]", "predicted_glycosites": 10, "predicted_n_glycosites": 9, "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": 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": 44, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030667 secretory granule membrane;GO:0101003 ficolin-1-rich granule membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9BY15-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULC5-1", "uniprot_id": [ { "id": "ACSL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULC5", "type": "external" } ], "mass": 75991.0, "length": 683, "protein_name": "Long-chain-fatty-acid--CoA ligase 5", "gene_name": "ACSL5", "organism": "Human", "refseq_name": "long-chain-fatty-acid--CoA ligase 5 isoform a", "refseq_ac": [ { "id": "NP_057318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057318", "type": "external" } ], "gene_names_uniprotkb": "ACSL5; ACS5; FACL5; PRO1250", "gene_names_refseq": "ACS2; ACS5; ACSL5; DIAR13; FACL5", "protein_names_uniprotkb": "Long-chain-fatty-acid--CoA ligase 5; 6.2.1.15; 6.2.1.3; Arachidonate--CoA ligase; LACS 5; Long-chain acyl-CoA synthetase 5", "protein_names_refseq": "FACL5 for fatty acid coenzyme A ligase 5; LACS 5; arachidonate--CoA ligase; fatty-acid-Coenzyme A ligase, long-chain 5; long-chain acyl-CoA synthetase 5; long-chain fatty acid coenzyme A ligase 5; long-chain-fatty-acid--CoA ligase 5 isoform a; long-chain-fatty-acid--CoA ligase 5", "tax_id": 9606, "disease": "congenital diarrhea (Disease Ontology:DOID:0060774); diarrhea 13 (MONDO:MONDO:0957253)", "pathway": " (hsa:51703); (R-HSA-75876)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10.1101/2023.09.13.557529;10548543;10954726;11237011;11889465;12371743;12482854;12525535;12975309;12975357;15469937;16036915;16371355;16959974;17379924;17681178;17762044;18003621;18554506;18691976;18728184;18806831;19459852;19505953;19826053;20937905;21959040;22633490;24269233;24715725;25418920;25576301;25645385;26154972;26375851;26992070;27862975;27893789;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29789417;30315122;30397120;30410026;30484775;30779550;31154438;31217245;31530632;31637018;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33191500;33298915;33392160;33691108;33912179;33936100;33968037;34185709;34509645;34859867;34932366;35051231;35561310;35580925;36241641;36284347;36639836;36880305;36932115;37131085;40914422;8075637", "class_list": "", "function": "ACSL5, a prognostic factor in acute myeloid leukemia, modulates the activity of Wnt/beta-catenin signaling by palmitoylation modification., [RefSeq, PubMed]; Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Hypoxia-responsive PPARGC1A/BAMBI/ACSL5 axis promotes progression and resistance to lenvatinib in hepatocellular carcinoma., [RefSeq, PubMed]; Lysophosphatidylcholine inhibits lung cancer cell proliferation by regulating fatty acid metabolism enzyme long-chain acyl-coenzyme A synthase 5., [RefSeq, PubMed]; More than just a histone deacetylase: cytoplasmic SIRT6 facilitates fatty acid oxidation through ACSL5 deacetylation., [RefSeq, PubMed]; The gene variant rs2419621 of ACYL-CoA synthetase long-chain 5 gene is associated with weight loss and metabolic changes in response to a robotic sleeve gastrectomy in morbid obese subjects., [RefSeq, PubMed]; The protein encoded by this gene is an isozyme of the 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 is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6GV77;D3DRB3;Q6UX44;Q9UIU4", "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": "6.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.25", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0047676 arachidonate-CoA ligase activity;GO:0090434 oleoyl-CoA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001676 long-chain fatty acid metabolic process;GO:0035338 long-chain fatty-acyl-CoA biosynthetic process;GO:2001236 regulation of extrinsic apoptotic signaling pathway;GO:0010747 positive regulation of long-chain fatty acid import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q9ULC5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60516-1", "uniprot_id": [ { "id": "4EBP3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60516", "type": "external" } ], "mass": 10873.0, "length": 100, "protein_name": "Eukaryotic translation initiation factor 4E-binding protein 3", "gene_name": "EIF4EBP3", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 4E-binding protein 3", "refseq_ac": [ { "id": "NP_003723", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003723", "type": "external" } ], "gene_names_uniprotkb": "EIF4EBP3", "gene_names_refseq": "4E-BP3; 4EBP3; EIF4EBP3", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 4E-binding protein 3; 4E-BP3; eIF4E-binding protein 3", "protein_names_refseq": "eIF4E-binding protein 3; eukaryotic initiation factor 4E-binding protein 3; eukaryotic translation initiation factor 4E-binding protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:8637)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "12482586;14507920;14557257;22684010;26154972;27319316;29333098;31844290;31853750;9593750", "class_list": "", "function": "4E-BP3 is associated with eIF4E in the cell nucleus and cytoplasm, [RefSeq, PubMed]; EIF4EBP3 was downregulated by methylation and acted as a tumor suppressor by targeting eIF4E/beta-catenin in gastric cancer., [RefSeq, PubMed]; PHAS-II, but not PHAS-III, contributes to the control of protein synthesis by insulin, [RefSeq, PubMed]; Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: the hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repression of translation. In contrast, the hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation (By similarity). Inhibits EIF4E-mediated mRNA nuclear export (PubMed:22684010)., [UniProtKB, UniProtKB, PubMed]; Role of the eIF4EBP3 gene in miR-22-3p-mediated cervical squamous carcinoma cell growth Publication Status: Online-Only, [RefSeq, PubMed]; The data reveal that 4E-BP3 expression is controlled by the transcription factor TFE3 through a cis-regulatory element in the EIF4EBP3 gene promoter. Publication Status: Online-Only, [RefSeq, PubMed]; There are overlapping reading frames in the mouse and human genes for 4E-BP3 and MASK, [RefSeq, PubMed]; This gene encodes a member of the EIF4EBP family, which consists of proteins that bind to eukaryotic translation initiation factor 4E and regulate its assembly into EIF4F, the multi-subunit translation initiation factor that recognizes the mRNA cap structure. Read-through transcription from the neighboring upstream gene (MASK or ANKHD1) generates a transcript (MASK-BP3) that encodes a protein comprised of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Oct 2010]., [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": 2, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0008190 eukaryotic initiation factor 4E binding;GO:0030371 translation repressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane;GO:0016281 eukaryotic translation initiation factor 4F complex", "go_biological_process": "GO:0045947 negative regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "O60516-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95264-1", "uniprot_id": [ { "id": "5HT3B_HUMAN", "url": "https://www.uniprot.org/uniprot/O95264", "type": "external" } ], "mass": 50292.0, "length": 441, "protein_name": "5-hydroxytryptamine receptor 3B", "gene_name": "HTR3B", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 3B isoform 1 precursor", "refseq_ac": [ { "id": "NP_006019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006019", "type": "external" } ], "gene_names_uniprotkb": "HTR3B", "gene_names_refseq": "5-HT3B; HTR3B", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 3B; 5-HT3-B; 5-HT3B; Serotonin receptor 3B", "protein_names_refseq": "5-hydroxytryptamine (serotonin) receptor 3B, ionotropic; 5-hydroxytryptamine 3 receptor B subunit; 5-hydroxytryptamine receptor 3B isoform 1 precursor; serotonin-gated ion channel subunit", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:9177); (R-HSA-112314)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10521471;11237011;11485506;12363396;12532186;12867984;1387926;15293096;15389765;16116092;16389408;16487942;17010535;17392525;17652911;18761359;20844345;21138434;21179162;21180598;2155780;22993341;25323946;25333367;25949526;26238288;28291778;29763014;29774051;29885172;30405098;32938616;32983136;33605481;34948773;35051231;36849934;7507039;7565620;7691500;8717357;9677400;9950429", "class_list": "", "function": "Association of HTR3B gene polymorphisms with depression and its executive dysfunction: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; Forms serotonin (5-hydroxytryptamine/5-HT3)-activated cation-selective channel complexes, which when activated cause fast, depolarizing responses in neurons., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; No association of anti-emetic efficacy of ondansetron with 18792A>G polymorphism in the target gene of 5-hydroxytryptamine type 3 subtype B was found., [RefSeq, PubMed]; Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Polymorphisms of 5-hydroxytryptamine receptor type 3B gene and clinical characteristics for vomiting after breast surgery in chinese han female population., [RefSeq, PubMed]; Rs1176744 in HTR3B, and one major haplotype, T-T-A-G, formed by rs3758987, rs4938056, rs1176744, and rs2276305 in HTR3B, are significantly associated with nicotine dependence in Chinese Han male smokers. Publication Status: Online-Only, [RefSeq, PubMed]; The Predictive Role of ADRA2A rs1800544 and HTR3B rs3758987 Polymorphisms in Motion Sickness Susceptibility. Publication Status: Online-Only, [RefSeq, PubMed]; The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [provided by RefSeq, Aug 2011]., [RefSeq]", "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": 5, "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": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ23;Q0VJC3", "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:0022850 serotonin-gated monoatomic cation channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0005231 excitatory extracellular ligand-gated monoatomic ion channel activity;GO:0004888 transmembrane signaling receptor activity;GO:0005230 extracellular ligand-gated monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0045202 synapse;GO:0045211 postsynaptic membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0007268 chemical synaptic transmission;GO:0034220 monoatomic ion transmembrane transport;GO:0007210 serotonin receptor signaling pathway;GO:0140227 serotonin-gated cation-selective signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "O95264-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08195-2", "uniprot_id": [ { "id": "4F2_HUMAN", "url": "https://www.uniprot.org/uniprot/P08195", "type": "external" } ], "mass": 57945.0, "length": 529, "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "organism": "Human", "refseq_name": "amino acid transporter heavy chain SLC3A2 isoform b", "refseq_ac": [ { "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680", "type": "external" } ], "gene_names_uniprotkb": "SLC3A2; MDU1", "gene_names_refseq": "4F2HC; 4F2; 4T2HC; CD98HC; CD98; MDU1; NACAE; SLC3A2", "protein_names_uniprotkb": "Amino acid transporter heavy chain SLC3A2; 4F2 cell-surface antigen heavy chain; 4F2 heavy chain antigen; 4F2hc; Lymphocyte activation antigen 4F2 large subunit; Solute carrier family 3 member 2", "protein_names_refseq": "4F2 cell-surface antigen heavy chain; CD98 heavy chain; amino acid transporter heavy chain SLC3A2 isoform b; amino acid transporter heavy chain SLC3A2; antigen defined by monoclonal antibody 4F2, heavy chain; antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43; lymphocyte activation antigen 4F2 large subunit; monoclonal antibody 44D7; solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2; solute carrier family 3 (amino acid transporter heavy chain), member 2", "tax_id": 9606, "disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); adenoid cystic carcinoma (Disease Ontology:DOID:0080202); lung pleomorphic carcinoma (Disease Ontology:DOID:0080899); transitional cell carcinoma (Disease Ontology:DOID:2671); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); stomach carcinoma (Disease Ontology:DOID:5517)", "pathway": " (hsa:6520); (R-HSA-210991); (R-HSA-352230); (R-HSA-5660862); (R-HSA-71240)", "pathway_count": 5, "publication_count": 144, "publication_id_list": "10.1101/2023.09.13.557529;10049700;10080182;10080183;10358010;10391915;10485994;10574970;10631139;10672018;10698697;10823827;10863037;10880960;10891391;10903140;10921872;10930503;11121428;11243884;11278508;11311135;11318953;11342143;11389679;11417227;11557028;11564694;11591158;11696247;11719518;11742812;11827462;11840567;11943775;12007602;12117417;12140278;12202949;12225859;12270127;12527723;12558975;12716892;12754519;12809675;12930836;13069505;14603368;14707126;15151999;15364907;15625115;15659399;15769744;15776427;15880762;15901826;15918515;15946952;15980244;16260747;16335952;16376499;16477023;16496379;17081065;17081983;17671174;17724034;17996943;18056995;18195088;18262359;18452278;18620547;19065266;19139490;19159218;19292886;19338303;19349973;19651622;19690332;19691289;20068231;21097500;21406692;21526146;22223895;23116296;23186163;23301498;23478338;24190977;24652292;25114211;25998567;26853435;28350098;30341327;3036867;30444036;30867591;32119511;3265470;33066406;33214551;33298890;33758168;34019948;34294905;34725712;3476959;3480538;34880232;35008409;35083852;35352032;36028562;37074911;38582862;38656249;38665916;38858548;39095551;40914422;41018975;7514594;7589472;7883047;8010975;8101838;8294935;8340364;8666386;8702519;8910405;9174363;9180257;9360995;9751058;9829974;9878049", "class_list": "glycogene;glycosylhydrolase", "function": "(Microbial infection) Acts as a receptor for malaria parasite Plasmodium vivax (Thai isolate) in immature red blood cells., [UniProtKB, PubMed]; (Microbial infection) In case of hepatitis C virus/HCV infection, the complex formed by SLC3A2 and SLC7A5/LAT1 plays a role in HCV propagation by facilitating viral entry into host cell and increasing L-leucine uptake-mediated mTORC1 signaling activation, thereby contributing to HCV-mediated pathogenesis., [UniProtKB, PubMed]; Acts as a chaperone that facilitates biogenesis and trafficking of functional transporters heterodimers to the plasma membrane. Forms heterodimer with SLC7 family transporters (SLC7A5, SLC7A6, SLC7A7, SLC7A8, SLC7A10 and SLC7A11), a group of amino-acid antiporters (PubMed:10574970, PubMed:10903140, PubMed:11557028, PubMed:30867591, PubMed:33298890, PubMed:33758168, PubMed:34880232, PubMed:9751058, PubMed:9829974, PubMed:9878049). Heterodimers function as amino acids exchangers, the specificity of the substrate depending on the SLC7A subunit. Heterodimers SLC3A2/SLC7A6 or SLC3A2/SLC7A7 mediate the uptake of dibasic amino acids (PubMed:10903140, PubMed:9829974). Heterodimer SLC3A2/SLC7A11 functions as an antiporter by mediating the exchange of extracellular anionic L-cystine and intracellular L-glutamate across the cellular plasma membrane (PubMed:34880232). SLC3A2/SLC7A10 translocates small neutral L- and D-amino acids across the plasma membrane (By similarity). SLC3A2/SLC75 or SLC3A2/SLC7A8 translocates neutral amino acids with broad specificity, thyroid hormones and L-DOPA (PubMed:10574970, PubMed:11389679, PubMed:11557028, PubMed:11564694, PubMed:11742812, PubMed:12117417, PubMed:12225859, PubMed:12716892, PubMed:15980244, PubMed:30867591, PubMed:33298890, PubMed:33758168). SLC3A2 is essential for plasma membrane localization, stability, and the transport activity of SLC7A5 and SLC7A8 (PubMed:10391915, PubMed:10574970, PubMed:11311135, PubMed:15769744, PubMed:33066406). When associated with LAPTM4B, the heterodimer SLC7A5 is recruited to lysosomes to promote leucine uptake into these organelles, and thereby mediates mTORC1 activation (PubMed:25998567). Modulates integrin-related signaling and is essential for integrin-dependent cell spreading, migration and tumor progression (PubMed:11121428, PubMed:15625115)., [UniProtKB, 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]; Anaplastic Lymphoma Kinase signaling stabilizes SLC3A2 expression via MARCH11 to promote neuroblastoma cell growth., [RefSeq, PubMed]; CD98 heavy chain protein is overexpressed in non-small cell lung cancer and is a potential target for CAR T-cell therapy. Publication Status: Online-Only, [RefSeq, PubMed]; Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter. Publication Status: Online-Only, [RefSeq, PubMed]; Study on the Role and Mechanism of SLC3A2 in Tumor-Associated Macrophage Polarization and Bladder Cancer Cells Growth., [RefSeq, PubMed]; This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]., [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 580, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 98, "disease_count": 7, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "J3KPF3;Q13543", "ec_number_list": [], "go_molecular_function": "GO:0015180 L-alanine transmembrane transporter activity;GO:0003723 RNA binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0015820 L-leucine transport;GO:0015824 proline transport;GO:1903801 L-leucine import across plasma membrane;GO:0005975 carbohydrate metabolic process;GO:0006816 calcium ion transport", "synthesized_glycan_count": 0, "hit_score": 24.9, "record_id": "P08195-2", "record_type": "protein", "filter_code": "1000000.1100111.100000.000000000001000000.1100000000001.100.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHX3-1", "uniprot_id": [ { "id": "AGRE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHX3", "type": "external" } ], "mass": 90472.0, "length": 823, "protein_name": "Adhesion G protein-coupled receptor E2", "gene_name": "ADGRE2", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor E2 isoform h precursor", "refseq_ac": [ { "id": "NP_001257981", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257981", "type": "external" } ], "gene_names_uniprotkb": "ADGRE2; EMR2", "gene_names_refseq": "ADGRE2; CD312; CD97; EMR2; VBU", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor E2; EGF-like module receptor 2; EGF-like module-containing mucin-like hormone receptor-like 2", "protein_names_refseq": "CD97 antigen; EGF-like module-containing mucin-like hormone receptor-like 2; Leukocyte antigen CD97; adhesion G protein-coupled receptor E2 isoform h precursor; egf-like module containing, mucin-like, hormone receptor-like 2", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); hypertension (Disease Ontology:DOID:10763); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); vibratory urticaria (Disease Ontology:DOID:1554)", "pathway": " (hsa:30817); (R-HSA-373080)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10903844;11237011;11297558;11994511;12098667;12559132;12829604;12860403;15150276;15498814;16602827;17449467;17928360;18267122;18801728;20966082;22310662;22575658;23481700;24190977;25713288;26841242;27862975;28218747;28832583;28904123;29242379;29351928;29393594;29437277;29557506;29741879;29789417;31222486;31611695;31844290;31937595;32157095;32357974;32387766;32938616;32983136;33392160;33497605;33912179;33968037;34357683;34411563;35051231;35251023;35580925;3616618;37074911;37998392;39082681;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337", "class_list": "", "function": "Adhesion GPCR ADGRE2 Maintains Proteostasis to Promote Progression in Acute Myeloid Leukemia., [RefSeq, PubMed]; Cell surface receptor that binds to the chondroitin sulfate moiety of glycosaminoglycan chains and promotes cell attachment. Promotes granulocyte chemotaxis, degranulation and adhesion. In macrophages, promotes the release of inflammatory cytokines, including IL8 and TNF. Probably signals through G proteins. Is a regulator of mast cell degranulation (PubMed:26841242)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; EGF-TM7 pre-mRNAs also undergo the rare trans-splicing, leading to the generation of functional chimeric receptors., [RefSeq, PubMed]; Tethered agonist exposure in intact adhesion/class B2 GPCRs through intrinsic structural flexibility of the GAIN domain., [RefSeq, PubMed]; The Posttraumatic Increase in the Adhesion of GPCR EMR2/ADGRE2 to Circulating Neutrophils Is Not Related to Injury Severity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protein coupled receptors. These proteins are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor-like domains coupled to a TM7 domain via a mucin-like spacer domain. The encoded protein is expressed mainly in myeloid cells where it promotes cell-cell adhesion through interaction with chondroitin sulfate chains. This gene is situated in a cluster of related genes on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 7, "predicted_n_glycosites": 6, "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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 64, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 21, "disease_count": 4, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "B4DQ96;E7ESD7;E9PBR1;E9PEL6;E9PFQ5;E9PG91;Q8NG96;Q9Y4B1", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005509 calcium ion binding;GO:0035374 chondroitin sulfate binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0032587 ruffle membrane;GO:0031256 leading edge membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007155 cell adhesion;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q9UHX3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96B67-1", "uniprot_id": [ { "id": "ARRD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96B67", "type": "external" } ], "mass": 46395.0, "length": 414, "protein_name": "Arrestin domain-containing protein 3", "gene_name": "ARRDC3", "organism": "Human", "refseq_name": "arrestin domain-containing protein 3 isoform a", "refseq_ac": [ { "id": "NP_065852", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065852", "type": "external" } ], "gene_names_uniprotkb": "ARRDC3; KIAA1376", "gene_names_refseq": "ARRDC3; TLIMP", "protein_names_uniprotkb": "Arrestin domain-containing protein 3; TBP-2-like inducible membrane protein; TLIMP", "protein_names_refseq": "TBP-2-like inducible membrane protein; alpha-arrestin 3; arrestin domain-containing protein 3 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:57561)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "16269462;19605364;20306291;20559325;20603614;21191027;21652578;21982743;23208550;23481700;23886940;24379409;25220262;25502872;25576301;25880248;26992070;27862975;27920218;28904123;29242379;29314611;29393594;29493099;29557506;29632711;29786170;30429286;31020640;31217245;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32897882;32938616;32983136;33043033;33123756;33592498;33691108;33912179;33936100;33968037;34357683;34509645;34932366;35051231;35251023;35580925;36010968;36215666;36284347;37436094;37938771;38389126", "class_list": "", "function": "ARRDC3 directly binds to a phosphorylated form of ITGbeta4 leading to its internalization, ubiquitination and ultimate degradation, and suppress breast cancer progression., [RefSeq, PubMed]; ARRDC3 regulates the targeted therapy sensitivity of clear cell renal cell carcinoma by promoting AXL degradation., [RefSeq, PubMed]; Adapter protein that plays a role in regulating cell-surface expression of adrenergic receptors and probably also other G protein-coupled receptors (PubMed:20559325, PubMed:21982743, PubMed:23208550). Plays a role in NEDD4-mediated ubiquitination and endocytosis af activated ADRB2 and subsequent ADRB2 degradation (PubMed:20559325, PubMed:23208550). May recruit NEDD4 to ADRB2 (PubMed:20559325). Alternatively, may function as adapter protein that does not play a major role in recruiting NEDD4 to ADRB2, but rather plays a role in a targeting ADRB2 to endosomes (PubMed:23208550)., [UniProtKB, PubMed, PubMed]; Data show that ARRDC3 interacts with NEDD4 through two conserved PPXY motifs and recruits NEDD4 to the activated beta2-adrenergic receptor., [RefSeq, PubMed]; Hsa_circ_0001740 mediates trophoblast cell function via regulating miR-188-3p/ARRDC3., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Single-nucleotide polymorphisms in ARRDC3, FLT1, and SKAP1 were significant predictors for survival androgen-deprivation therapy in prostate cancer patients., [RefSeq, PubMed]; This gene encodes a member of the arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016]., [RefSeq]; Txnip regulates cellular metabolism independent of its binding to thioredoxin and the arrestin domains are crucial structural elements in metabolic functions of alpha-arrestin proteins, [RefSeq, PubMed]; [Thioredoxin-binding protein-2-like inducible membrane protein, TLIMP] TLIMP, a novel VD3- or PPARgamma ligand-inducible membrane-associated protein, plays a regulatory role in cell proliferation and PPARgamma activation., [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": 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": 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": "A8K6T8;Q9P2H1", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0031699 beta-3 adrenergic receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0005764 lysosome", "go_biological_process": "GO:0051443 positive regulation of ubiquitin-protein transferase activity;GO:0035332 positive regulation of hippo signaling;GO:0120163 negative regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q96B67-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07002-2", "uniprot_id": [ { "id": "CDK18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07002", "type": "external" } ], "mass": 54424.0, "length": 474, "protein_name": "Cyclin-dependent kinase 18", "gene_name": "CDK18", "organism": "Human", "refseq_name": "cyclin-dependent kinase 18 isoform b", "refseq_ac": [ { "id": "NP_002587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002587", "type": "external" } ], "gene_names_uniprotkb": "CDK18; PCTAIRE3; PCTK3", "gene_names_refseq": "CDK18; PCTAIRE3; PCTAIRE; PCTK3", "protein_names_uniprotkb": "Cyclin-dependent kinase 18; 2.7.11.22; Cell division protein kinase 18; PCTAIRE-motif protein kinase 3; Serine/threonine-protein kinase PCTAIRE-3", "protein_names_refseq": "PCTAIRE protein kinase 3; PCTAIRE-motif protein kinase 3; cell division protein kinase 18; cyclin-dependent kinase 18 isoform b; serine/threonine-protein kinase PCTAIRE-3", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); lissencephaly 7 with cerebellar hypoplasia (Disease Ontology:DOID:0112231)", "pathway": " (hsa:5129)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "15019984;1639063;17344846;17924679;18669648;18691976;19369195;20068231;21406692;23186163;24275569;25645385;25892735;26992070;27920218;28834231;29242379;29331515;29393594;29508533;29557506;29632711;29769354;29786170;30192525;30379171;30410026;30524438;31154438;32157095;32387766;32488085;32897882;32938616;32983136;33392160;33691108;33912179;33968037;33981976;34357683;34509645;34932366;35051231;35318648;35580925;36010968;36241641;36602125", "class_list": "", "function": "Expression of PCTAIRE 3a (474 amino acids) was evident throughout the brain and in the majority of tissues analyzed, while spliced isoform PCTAIRE 3b (504 amino acids) was limited to several subcortical nuclei of the basal gangli and the spinal cord., [RefSeq, PubMed]; Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci., [RefSeq, PubMed]; May play a role in signal transduction cascades in terminally differentiated cells., [UniProtKB]", "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": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "Q5VXQ2;Q6V3A2;Q6V3A3;Q96F90", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "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:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0000307 cyclin-dependent protein kinase holoenzyme complex", "go_biological_process": "GO:1901987 regulation of cell cycle phase transition;GO:0031643 positive regulation of myelination", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q07002-2", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HC29-1", "uniprot_id": [ { "id": "NOD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HC29", "type": "external" } ], "mass": 115283.0, "length": 1040, "protein_name": "Nucleotide-binding oligomerization domain-containing protein 2", "gene_name": "NOD2", "organism": "Human", "refseq_name": "nucleotide-binding oligomerization domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001280486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280486", "type": "external" } ], "gene_names_uniprotkb": "NOD2; CARD15", "gene_names_refseq": "ACUG; BLAUS; BLAU; CARD15; CD; CLR16.3; IBD1; NLRC2; NOD2B; NOD2; PSORAS1; YAOS", "protein_names_uniprotkb": "Nucleotide-binding oligomerization domain-containing protein 2; Caspase recruitment domain-containing protein 15; Inflammatory bowel disease protein 1", "protein_names_refseq": "NLR family, CARD domain containing 2; NOD-like receptor C2; caspase recruitment domain family, member 15; caspase recruitment domain protein 15; caspase recruitment domain-containing protein 15; inflammatory bowel disease protein 1; nucleotide-binding oligomerization domain 2; nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2; nucleotide-binding oligomerization domain-containing protein 2 isoform 2; nucleotide-binding oligomerization domain-containing protein 2", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); Blau syndrome (Disease Ontology:DOID:0050678); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); gastrointestinal carcinoma (Disease Ontology:DOID:0050922); colitis (Disease Ontology:DOID:0060180); meningococcal meningitis (Disease Ontology:DOID:0080176); graft-versus-host disease (Disease Ontology:DOID:0081267); PFAPA syndrome (Disease Ontology:DOID:0081451); inflammatory bowel disease 1 (Disease Ontology:DOID:0110892); leprosy (Disease Ontology:DOID:1024); lung cancer (Disease Ontology:DOID:1324); Behcet's disease (Disease Ontology:DOID:13241); pulmonary sarcoidosis (Disease Ontology:DOID:13406); breast cancer (Disease Ontology:DOID:1612); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); ovarian cancer (Disease Ontology:DOID:2394); larynx cancer (Disease Ontology:DOID:2596); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); familial Mediterranean fever (Disease Ontology:DOID:2987); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); middle cerebral artery infarction (Disease Ontology:DOID:3525); gastritis (Disease Ontology:DOID:4029); autoimmune disease (Disease Ontology:DOID:417); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); pancreatitis (Disease Ontology:DOID:4989); intestinal disease (Disease Ontology:DOID:5295); Crohn's disease (Disease Ontology:DOID:8778); systemic lupus erythematosus (Disease Ontology:DOID:9074); Yao syndrome (MONDO:MONDO:0015019)", "pathway": " (hsa:64127); (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": 248, "publication_id_list": "10075690;10224040;10329646;10385526;10514433;10702308;10723127;10854325;10882101;10918611;11087742;11094434;11237011;11385576;11385577;11460167;11463333;11528384;11960013;12019269;12171911;12496252;12514169;12527755;12538665;12626759;12692549;12759408;12791687;12791997;12796777;12860405;12871942;12917691;14514672;14570728;14625308;14633987;14661020;15024686;15044951;15145317;15198989;15208624;15258597;15327770;15334086;15459013;15620648;15785318;15812565;15837794;15917247;15998797;16056267;16186825;16203728;16485124;16510569;16819970;17047224;17135271;17141195;17303577;17351900;17355968;17389035;17496917;17507369;17562858;17675297;17728323;17890055;17997719;18070982;18079694;18096043;18180283;1828071;1833184;18438411;18462684;18511561;18758419;19116920;19169908;19264966;19359344;19383985;19397946;19464428;19479837;19535145;19592251;19701189;19787357;19818707;19843337;19903815;19996094;20199415;20300203;20553488;20637199;20676658;20698950;2139180;2147937;21573891;21887730;21914217;22124327;22544926;22700971;22829933;22857257;22941947;23019338;23300079;23322906;23376921;23481700;23711367;23806334;23827681;24047397;24366607;24610782;24790089;24960071;25093298;25576301;25692065;25724124;25891078;25904330;26070941;26280536;26369908;26992070;27007849;27283905;27466718;27701768;27748583;27812135;28436939;28832583;28904123;29242379;2946959;29632046;29671171;30279485;30478312;30559449;31530632;31649195;31844290;31850239;32353859;32357974;32387766;32428392;32502341;32589897;32726803;32728199;32830957;32938616;32953130;32979938;33024073;33060197;33091337;33097660;33110251;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33567255;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33942347;33963333;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34239064;34251956;34290717;34293401;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34597346;35051231;35066577;35102342;35580925;35643212;36002575;36221902;37051252;38348033;38395960;38916380;7628694;8327496;8332913;8533096;8599092;8622669;8837778;9346484;9371760;9430229;9430721;9744859;9768359;9859996;9865693;9990852;9990853", "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]; Acts as a pattern recognition receptor (PRR); able to activate NF-kappa-B., [UniProtKB, PubMed]; Can activate NF-kappa-B in a muramyl dipeptide (MDP)-independent manner., [UniProtKB, PubMed]; Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; In early-onset sarcoidosis and Blau syndrome share the common genetic etiology of CARD15 mutations that cause constitutive NF-kappaB activation., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity (PubMed:12514169, PubMed:12527755, PubMed:12626759, PubMed:15044951, PubMed:15998797, PubMed:27283905, PubMed:27748583, PubMed:31649195). Specifically activated by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan found in every bacterial peptidoglycan type (PubMed:12514169, PubMed:12527755, PubMed:12626759, PubMed:12871942, PubMed:15044951, PubMed:15198989, PubMed:15998797, PubMed:22857257, PubMed:23322906, PubMed:27748583, PubMed:36002575). NOD2 specifically recognizes and binds 6-O-phospho-MDP, the phosphorylated form of MDP, which is generated by NAGK (PubMed:36002575). 6-O-phospho-MDP-binding triggers oligomerization that facilitates the binding and subsequent activation of the proximal adapter receptor-interacting RIPK2 (PubMed:11087742, PubMed:17355968, PubMed:21887730, PubMed:23806334, PubMed:28436939). 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:11087742, PubMed:12514169, PubMed:12626759, PubMed:15198989, PubMed:21887730, PubMed:23322906, PubMed:23806334, PubMed:28436939). This in turn leads to the transcriptional activation of hundreds of genes involved in immune response (PubMed:15198989). Its ability to detect bacterial MDP plays a central role in maintaining the equilibrium between intestinal microbiota and host immune responses to control inflammation (By similarity). An imbalance in this relationship results in dysbiosis, whereby pathogenic bacteria prevail on commensals, causing damage in the intestinal epithelial barrier as well as allowing bacterial invasion and inflammation (By similarity). Acts as a regulator of appetite by sensing MDP in a subset of brain neurons: microbiota-derived MDP reach the brain, where they bind and activate NOD2 in inhibitory hypothalamic neurons, decreasing neuronal activity, thereby regulating satiety and body temperature (By similarity). NOD2-dependent MDP-sensing of bacterial cell walls in the intestinal epithelial compartment contributes to sustained postnatal growth upon undernutrition (By similarity). Also plays a role in antiviral response by acting as a sensor of single-stranded RNA (ssRNA) from viruses: upon ssRNA-binding, interacts with MAVS, leading to activation of interferon regulatory factor-3/IRF3 and expression of type I interferon (PubMed:19701189). Also acts as a regulator of autophagy in dendritic cells via its interaction with ATG16L1, possibly by recruiting ATG16L1 at the site of bacterial entry (PubMed:20637199). NOD2 activation in the small intestine crypt also contributes to intestinal stem cells survival and function: acts by promoting mitophagy via its association with ATG16L1 (By similarity). In addition to its main role in innate immunity, also regulates the adaptive immune system by acting as regulator of helper T-cell and regulatory T-cells (Tregs) (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). May also be involved in NLRP1 activation following activation by MDP, leading to CASP1 activation and IL1B release in macrophages (PubMed:18511561)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The expanding clinical spectrum of autoinflammatory diseases with NOD2 variants: a case series and literature review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The results suggest complex parallel control mechanisms that independently regulate NOD2 expression in the context of inflammatory signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]., [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": 0, "reported_mutagensis": 89, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 33, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E2JEQ6;Q96RH5;Q96RH6;Q96RH8", "ec_number_list": [], "go_molecular_function": "GO:0042834 peptidoglycan binding;GO:0003779 actin binding;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway;GO:0002221 pattern recognition receptor signaling pathway;GO:0032740 positive regulation of interleukin-17 production;GO:0009595 detection of biotic stimulus;GO:1901526 positive regulation of mitophagy", "synthesized_glycan_count": 0, "hit_score": 25.1, "record_id": "Q9HC29-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAT0-1", "uniprot_id": [ { "id": "ROP1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAT0", "type": "external" } ], "mass": 23893.0, "length": 212, "protein_name": "Ropporin-1A", "gene_name": "ROPN1", "organism": "Human", "refseq_name": "ropporin-1A isoform a", "refseq_ac": [ { "id": "NP_001304703", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304703", "type": "external" } ], "gene_names_uniprotkb": "ROPN1; ROPN1A", "gene_names_refseq": "CT91; ODF6; RHPNAP1; ROPN1A; ROPN1; ropporin", "protein_names_uniprotkb": "Ropporin-1A; CT91; Cancer/testis antigen 91; Rhophilin-associated protein 1A", "protein_names_refseq": "cancer/testis antigen 91; outer dense fiber of sperm tails 6; rhophilin-associated protein 1A; ropporin, rhophilin associated protein 1; ropporin-1A isoform a; ropporin-1A; testis secretory sperm-binding protein Li 239w", "tax_id": 9606, "disease": "", "pathway": " (hsa:54763); (R-HSA-5666185)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10591629;10873388;10940294;11237011;12221077;12473120;15767687;16979770;17551920;25645385;29247344;32157095;32427399;32488085;35051231;8571126;8662891", "class_list": "", "function": "Important for male fertility. With ROPN1L, involved in fibrous sheath integrity and sperm motility, plays a role in PKA-dependent signaling processes required for spermatozoa capacitation., [UniProtKB, UniProtKB]; Rhophilin-associated tail protein 1 promotes migration and metastasis in triple negative breast cancer via activation of RhoA., [RefSeq, PubMed]; Ropporin gene expression in tumor cells is associated with the presence of high titer IgG antibodies against Ropporin, suggesting the in vivo translation of the mRNA into protein and the immunogenicity of the protein to the autologous hosts., [RefSeq, PubMed]; The protein encoded by this gene is found in the fibrous sheath of spermatazoa, where it interacts with rhophilin, a Rho GTPase binding protein. The encoded protein also can bind an A-kinase anchoring protein (AKAP110) and a calcium-binding tyrosine phosphorylation-regulated protein (CABYR). This protein may be involved in sperm motility and has been shown to be a cancer-testis antigen in hematologic malignancies. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; There is downregulation of both ROPN1 and CABYR in asthenozoospermic samples and importantly, a positive correlation between the expression of the two genes, suggesting that ROPN1 and CABYR co-expression is a prerequisite for normal flagellar function and sperm motility., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "D3DN99;Q9UF38", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031514 motile cilium", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation;GO:0061512 protein localization to cilium;GO:0044782 cilium organization", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9HAT0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20929-2", "uniprot_id": [ { "id": "NEBU_HUMAN", "url": "https://www.uniprot.org/uniprot/P20929", "type": "external" } ], "mass": 986665.0, "length": 8525, "protein_name": "Nebulin", "gene_name": "NEB", "organism": "Human", "refseq_name": "nebulin isoform 1", "refseq_ac": [ { "id": "NP_001157979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157979", "type": "external" } ], "gene_names_uniprotkb": "NEB", "gene_names_refseq": "AMC6; NEB177D; NEB; NEM2", "protein_names_uniprotkb": "Nebulin", "protein_names_refseq": "nebulin isoform 1; nemaline myopathy type 2", "tax_id": 9606, "disease": "arthrogryposis multiplex congenita-6 (Disease Ontology:DOID:0070336); nemaline myopathy 2 (Disease Ontology:DOID:0110928); nemaline myopathy (Disease Ontology:DOID:3191)", "pathway": " (hsa:4703); (R-HSA-390522)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10051637;10747208;12482578;1682316;16917880;18639526;21798101;23615443;23985323;26578207;28411811;29274205;30379171;31492838;3397062;35494241;38253038;38520674;38634969;39531497;7739042;9514727", "class_list": "", "function": "45 novel mutations within the nubulin gene are associated with nemaline myopathy., [RefSeq, PubMed]; Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects. Publication Status: Online-Only, [RefSeq, PubMed]; Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies., [RefSeq, PubMed]; This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]., [RefSeq]; This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin., [UniProtKB]", "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 235, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "F8WCL5;F8WCP0;Q15346;Q53QQ2;Q53TG8", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0008307 structural constituent of muscle", "go_cellular_component": "GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome;GO:0030018 Z disc", "go_biological_process": "GO:0007525 somatic muscle development;GO:0030832 regulation of actin filament length;GO:0007517 muscle organ development;GO:0071691 cardiac muscle thin filament assembly", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P20929-2", "record_type": "protein", "filter_code": "0000000.1000111.000010.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60573-1", "uniprot_id": [ { "id": "IF4E2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60573", "type": "external" } ], "mass": 28362.0, "length": 245, "protein_name": "Eukaryotic translation initiation factor 4E type 2", "gene_name": "EIF4E2", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 4E type 2 isoform C", "refseq_ac": [ { "id": "NP_001263265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263265", "type": "external" } ], "gene_names_uniprotkb": "EIF4E2; EIF4EL3", "gene_names_refseq": "4E-LP; 4EHP; EIF4E2; EIF4EL3; IF4e; h4EHP", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 4E type 2; Eukaryotic translation initiation factor 4E homologous protein; Eukaryotic translation initiation factor 4E-like 3; eIF-4E type 2; eIF4E type 2; eIF4E-like protein 4E-LP; h4EHP; mRNA cap-binding protein 4EHP; mRNA cap-binding protein type 3", "protein_names_refseq": "eIF-4E type 2; eIF4E-like cap-binding protein; eIF4E-like protein 4E-LP; eukaryotic translation initiation factor 4E homologous protein; eukaryotic translation initiation factor 4E type 2 isoform C; eukaryotic translation initiation factor 4E type 2; eukaryotic translation initiation factor 4E-like 3; mRNA cap-binding protein type 3", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); Pendred Syndrome (Disease Ontology:DOID:0060744); autosomal recessive nonsyndromic deafness 4 (Disease Ontology:DOID:0110498); goiter (Disease Ontology:DOID:12176)", "pathway": " (hsa:9470); (R-HSA-1169408)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;11095724;11112487;11157743;11237011;11788588;12525615;12582176;14623119;15094042;15131269;15153109;15485925;15702989;16009940;16112642;16122702;16139798;16352599;16407192;16428300;16699525;16715065;16775314;16815975;16872604;16914094;17289916;17368478;17376915;18287095;18305167;18583345;19073728;19125153;19270716;19608861;19651622;20133869;20219937;20308324;20385878;22751931;23186163;23991149;24715725;25418920;25624349;26811146;26992070;27920218;28063628;28218747;28487484;28832583;29242379;29393594;29632046;30315122;30410026;31154438;31222486;31844290;31848261;32157095;32161166;32387766;32726578;32938616;32983136;33298915;33581076;33592498;33912179;34509645;34665823;35051231;35580925;35878012;36840945;37938771;40914422;7559393;9525617;9582349;9653160", "class_list": "", "function": "(Microbial infection) Upon SARS coronavirus-2/SARS-CoV-2 infection, the interaction with non-structural protein 2 (nsp2) with GIGYF2 enhances GIGYF2 binding to EIF4E2 and increases repression of translation initiation of genes involved in antiviral innate immune response such as IFNB1., [UniProtKB, PubMed]; 4EHP over-expression instigates a negative feedback loop that inhibits upstream signaling to 4E-BP1 and ribosomal protein S6 kinase 1 (S6K1) whereas the 4E-BP1-binding-deficient mutant of 4EHP(W95A) was unable to trigger this feedback loop, [RefSeq, PubMed]; Component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931, PubMed:35878012). In association with GIGYF2, assists ribosome-associated quality control (RQC) by sequestering the mRNA cap, blocking ribosome initiation and decreasing the translational load on problematic messages. Part of a pathway that works in parallel to RQC-mediated degradation of the stalled nascent polypeptide. GIGYF2 and EIF4E2 work downstream and independently of ZNF598, which seems to work as a scaffold that can recruit them to faulty mRNA even if alternative recruitment mechanisms may exist (PubMed:32726578)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; METTL16 promotes translation and lung tumorigenesis by sequestering cytoplasmic eIF4E2., [RefSeq, PubMed]; Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation. Acts as a repressor of translation initiation (PubMed:17368478, PubMed:22751931, PubMed:25624349, PubMed:33581076, PubMed:9582349). In contrast to EIF4E, it is unable to bind eIF4G (EIF4G1, EIF4G2 or EIF4G3), suggesting that it acts by competing with EIF4E and block assembly of eIF4F at the cap (By similarity). In P-bodies, component of a complex that promotes miRNA-mediated translational repression (PubMed:28487484). Involved in virus-induced host response by mediating miRNA MIR34A-induced translational silencing which controls IFNB1 production by a negative feedback mechanism (PubMed:28487484, PubMed:33581076)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Translational repression of NMD targets by GIGYF2 and EIF4E2. 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B8ZZJ9;O75349", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0031625 ubiquitin protein ligase binding;GO:0008135 translation factor activity, RNA binding;GO:0000340 RNA 7-methylguanosine cap binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body;GO:0016281 eukaryotic translation initiation factor 4F complex", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0006413 translational initiation;GO:0017148 negative regulation of translation;GO:0045947 negative regulation of translational initiation;GO:0035278 miRNA-mediated gene silencing by inhibition of translation", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "O60573-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92934-1", "uniprot_id": [ { "id": "BAD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92934", "type": "external" } ], "mass": 18392.0, "length": 168, "protein_name": "Bcl2-associated agonist of cell death", "gene_name": "BAD", "organism": "Human", "refseq_name": "bcl2-associated agonist of cell death", "refseq_ac": [ { "id": "NP_004313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004313", "type": "external" } ], "gene_names_uniprotkb": "BAD; BBC6; BCL2L8", "gene_names_refseq": "BAD; BBC2; BCL2L8", "protein_names_uniprotkb": "Bcl2-associated agonist of cell death; BAD; Bcl-2-binding component 6; Bcl-2-like protein 8; Bcl-xL/Bcl-2-associated death promoter; Bcl2 antagonist of cell death; Bcl2-L-8", "protein_names_refseq": "BCL-X/BCL-2 binding protein; BCL2-antagonist of cell death protein; BCL2-binding component 6; BCL2-binding protein; bcl-2-binding component 6; bcl-2-like protein 8; bcl-XL/Bcl-2-associated death promoter; bcl2 antagonist of cell death; bcl2-L-8; bcl2-associated agonist of cell death", "tax_id": 9606, "disease": "chronic pancreatitis (Disease Ontology:DOID:0051065); Parkinsonism (Disease Ontology:DOID:0080855); traumatic brain injury (Disease Ontology:DOID:0081292); prostate carcinoma (Disease Ontology:DOID:10286); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); prostatic hypertrophy (Disease Ontology:DOID:11132); endometrial cancer (Disease Ontology:DOID:1380); hypothyroidism (Disease Ontology:DOID:1459); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); pancreatic cancer (Disease Ontology:DOID:1793); impotence (Disease Ontology:DOID:1875); colon cancer (Disease Ontology:DOID:219); brain ischemia (Disease Ontology:DOID:2316); acute kidney failure (Disease Ontology:DOID:3021); high grade glioma (Disease Ontology:DOID:3070); middle cerebral artery infarction (Disease Ontology:DOID:3525); intermittent claudication (Disease Ontology:DOID:3669); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); macular degeneration (Disease Ontology:DOID:4448); renal cell carcinoma (Disease Ontology:DOID:4450); osteoarthritis (Disease Ontology:DOID:8398); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetic neuropathy (Disease Ontology:DOID:9743); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:572); (R-HSA-111447); (R-HSA-111453); (R-HSA-193648); (R-HSA-198323); (R-HSA-5674400)", "pathway_count": 6, "publication_count": 127, "publication_id_list": "10102273;10195903;10198631;10230394;10230396;10358075;10485710;10490848;10521512;10558990;10611223;10679322;10807576;10837473;10837486;10880354;10926925;10949026;11206074;11231573;11237011;11274386;11278822;11342610;11463392;11493700;11504915;11546872;11697890;11715018;11717309;11756498;11983683;12049737;12097334;12150915;12172553;12244303;12524439;12624108;12657644;12668767;12767043;12897128;12954615;14617782;14673001;14678993;15169778;15183529;15226424;15280015;15470142;15527798;15660102;15705582;15849194;16166315;16272144;16403219;16413544;16509771;16818649;16932738;17256834;17270021;17476689;17535812;17611497;17663748;18246127;18256540;18309326;18451170;18452278;18591385;18669648;18707149;18794113;18954143;19054851;19282669;19413330;19644473;19664994;19667065;19690332;20043968;20054820;20068231;20166139;20179209;20440266;20489726;20566643;20567954;21419810;21444773;22025163;22096607;22103330;22506047;23186163;23291630;24129315;24275569;24346116;26183061;27862975;28904123;29632046;31844290;33717175;34171305;36883564;37014579;7834748;8929532;9346240;9381178;9388232;9478990;9520479;9651683;9812896;9829964;9895304", "class_list": "", "function": "AMPK/mTOR/p70S6K axis prevents apoptosis of Porphyromonas gingivalis-infected gingival epithelial cells via Bad[Ser136] phosphorylation., [RefSeq, PubMed]; MTOR inhibition overcomes RSK3-mediated resistance to BET inhibitors in small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes cell death. Successfully competes for the binding to Bcl-X(L), Bcl-2 and Bcl-W, thereby affecting the level of heterodimerization of these proteins with BAX. Can reverse the death repressor activity of Bcl-X(L), but not that of Bcl-2 (By similarity). Appears to act as a link between growth factor receptor signaling and the apoptotic pathways., [UniProtKB]; The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL (B-cell lymphoma-extra large) and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Dec 2019]., [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": 75, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 28, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O14803;Q6FH21", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0019901 protein kinase binding;GO:0008289 lipid binding;GO:0019903 protein phosphatase binding;GO:0140608 cysteine-type endopeptidase activator activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0097138 BAD-BCL-2 complex", "go_biological_process": "GO:0032024 positive regulation of insulin secretion;GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q92934-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30793-1", "uniprot_id": [ { "id": "GCH1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30793", "type": "external" } ], "mass": 27903.0, "length": 250, "protein_name": "GTP cyclohydrolase 1", "gene_name": "GCH1", "organism": "Human", "refseq_name": "GTP cyclohydrolase 1 isoform 1", "refseq_ac": [ { "id": "NP_000152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000152", "type": "external" } ], "gene_names_uniprotkb": "GCH1; DYT5; GCH", "gene_names_refseq": "DYT14; DYT5a; DYT5; GCH1; GCH; GTP-CH-1; GTPCH1; HPABH4B", "protein_names_uniprotkb": "GTP cyclohydrolase 1; 3.5.4.16; GTP cyclohydrolase I; GTP-CH-I", "protein_names_refseq": "GTP cyclohydrolase 1 isoform 1; GTP cyclohydrolase I; GTP-CH-I; dystonia 14; guanosine 5'-triphosphate cyclohydrolase I", "tax_id": 9606, "disease": "Parkinsonism (Disease Ontology:DOID:0080855); dopa-responsive dystonia (Disease Ontology:DOID:0090043); BH4-deficient hyperphenylalaninemia B (Disease Ontology:DOID:0112225); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); sickle cell anemia (Disease Ontology:DOID:10923); sciatic neuropathy (Disease Ontology:DOID:11446); diabetic angiopathy (Disease Ontology:DOID:11713); primary biliary cholangitis (Disease Ontology:DOID:12236); dilated cardiomyopathy (Disease Ontology:DOID:12930); transient cerebral ischemia (Disease Ontology:DOID:224); bipolar disorder (Disease Ontology:DOID:3312); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); pulmonary fibrosis (Disease Ontology:DOID:3770); liver cirrhosis (Disease Ontology:DOID:5082); intestinal disease (Disease Ontology:DOID:5295); dystonia (Disease Ontology:DOID:543); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2643); (R-HSA-1474151)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "10076897;10208576;10531334;10582612;10825351;10987649;11087827;11113234;11284739;11825621;11879202;12002810;12176133;12391354;12607127;14646243;14717702;1482676;1520321;15476407;15604419;15649650;16338639;16696853;16778797;16848765;17057711;17101830;17704208;18511317;1883349;19666465;19690332;23481700;23762320;2463916;2500984;25418920;25892735;26154972;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30429286;31530632;31844290;32161166;32265295;32357974;32387766;32502341;32983136;33141586;33298915;33633747;33691108;33912179;33968037;33981976;35051231;3536512;35580925;36010968;36241641;36399957;37463466;3753653;38084654;38757341;7501255;7563095;7663943;7678411;7730309;7874165;8068008;8137809;8137944;8307017;8502995;8666288;8695054;8852666;8957022;9120469;9222755;9328244;9445252;9667588;9778264", "class_list": "", "function": "GTP Cyclohydrolase Drives Breast Cancer Development and Promotes EMT in an Enzyme-Independent Manner., [RefSeq, PubMed]; Long non-coding RNA lung cancer-associated transcript 1 regulates ferroptosis via microRNA-34a-5p-mediated GTP cyclohydrolase 1 downregulation in lung cancer cells., [RefSeq, PubMed]; Nitrosative stress induced by homocysteine thiolactone drives vascular cognitive impairments via GTP cyclohydrolase 1 S-nitrosylation in vivo., [RefSeq, PubMed]; Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]., [RefSeq]; Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1., [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": 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": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 21, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6FHY7;Q9Y4I8", "ec_number_list": [ { "id": "3.5.4.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.16", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031965 nuclear membrane", "go_biological_process": "GO:0046654 tetrahydrofolate biosynthetic process;GO:0032496 response to lipopolysaccharide;GO:0034612 response to tumor necrosis factor;GO:0008217 regulation of blood pressure;GO:0010460 positive regulation of heart rate", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "P30793-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P69905-1", "uniprot_id": [ { "id": "HBA_HUMAN", "url": "https://www.uniprot.org/uniprot/P69905", "type": "external" } ], "mass": 15258.0, "length": 142, "protein_name": "Hemoglobin subunit alpha", "gene_name": "HBA1; HBA2", "organism": "Human", "refseq_name": "hemoglobin subunit alpha", "refseq_ac": [ { "id": "NP_000508", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000508", "type": "external" } ], "gene_names_uniprotkb": "HBA1; HBA2; HBA2", "gene_names_refseq": "ECYT7; HBA-T2; HBA2; HBH", "protein_names_uniprotkb": "Hemoglobin subunit alpha; Alpha-globin; Hemoglobin alpha chain", "protein_names_refseq": "alpha globin; alpha-2 globin; hemoglobin alpha chain; hemoglobin subunit alpha; hemoglobin, alpha 2; mutant hemoglobin alpha 2 globin chain", "tax_id": 9606, "disease": "hemoglobin H disease (Disease Ontology:DOID:0110031); Heinz body anemia (Disease Ontology:DOID:0111363); familial erythrocytosis 7 (Disease Ontology:DOID:0111631); Alzheimer's disease (Disease Ontology:DOID:10652); alpha thalassemia (Disease Ontology:DOID:1099)", "pathway": " (hsa:3039); (hsa:3040); (R-HSA-1237044); (R-HSA-1247673); (R-HSA-2168880); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9927020)", "pathway_count": 8, "publication_count": 323, "publication_id_list": "1008494;10090333;10198158;10206681;10381560;10529219;10569720;10569723;10611283;108887;1115799;11196644;11237011;11387216;1138883;11402454;11410421;11570726;11606574;11722414;1177322;1182166;11877257;12042320;12130498;12356737;12511571;1252417;12552433;12665801;12754312;12933803;12969439;1311094;13342742;13472068;13872627;1390940;1390944;1395;13954546;14093912;1428941;1428950;1428951;14576901;14958;1511986;1512262;15131110;15175654;15448162;15481888;15495251;15501038;15542058;1554744;15665827;15697213;15761026;15768558;15858218;15921163;15947085;16046400;1618774;16189277;1634355;1634357;1634363;1646599;16563834;16568091;16728641;16778136;1686260;16992238;16994616;17008602;17012249;17102136;17264172;17712059;17845074;17990881;18006707;1802882;18037887;18077343;18083107;18556779;18566446;18984734;19117535;19273840;19324878;19531498;19608861;19650691;19668749;19690164;19710360;19968714;20162361;20166139;20230836;20430887;20581824;2079430;2079432;20817722;20920479;20929863;20980;2101836;21041929;2108715;2111324;21479263;22427940;22492620;22738435;22922649;234739;23555621;24275569;24366607;24714562;2506737;2539258;25502872;25645385;25937211;2599879;2606724;26154972;2634665;2634669;26811146;26992070;27397612;27452731;2752146;27726376;27754849;27862975;27893789;2806549;28111073;2833478;2833500;28467828;28698372;28904123;29109153;29317506;29437277;29493099;29557506;30410026;30429286;30484775;3080418;3119859;31217245;3136125;3142772;31611695;31748741;31844290;32157095;32162841;32350084;32354867;32357974;32387766;32502341;32695117;32938616;32983136;33043033;33091337;33141586;33214551;33298915;33392160;3345742;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;3427020;34357683;34561969;3475708;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;3654264;3754246;37938771;38253038;38626234;38660861;38665916;3891754;38926992;3938604;3973024;40596516;4074707;4203704;4212045;4327491;4514311;4521212;4528583;4647257;4667378;4744335;478975;478977;4824923;486536;496916;4975618;4994926;5033650;5085669;5091982;5115619;5135507;5288820;5440849;5656372;5774804;5780195;5988206;6094553;6188720;6244294;6407977;6417382;6433979;6452630;6480598;6526652;6547117;6547932;6714429;6725558;6815131;6819139;6849882;6874376;6874377;6882779;6946451;7068434;7068437;7161109;7213661;7238857;7263686;7275660;7287740;7358733;7373648;7378053;7410435;7435503;7448866;7462179;7470621;7541176;7558876;7713747;7786798;8070313;8148419;8195005;8195006;8237999;8294199;8294200;8300612;8415693;8424694;8448109;8493987;849454;8622974;8745434;8798486;8855948;8875343;8887638;8972395;902765;9054574;9079689;9143858;9144434;9322075;9336012;9452028;9486145;9494044;9665850;971416", "class_list": "", "function": "Hb H disease associated with compound heterozygosity for --[SEA] deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family., [RefSeq, PubMed]; Hemopressin acts as an antagonist peptide of the cannabinoid receptor CNR1 (PubMed:18077343). Hemopressin-binding efficiently blocks cannabinoid receptor CNR1 and subsequent signaling (PubMed:18077343)., [UniProtKB, PubMed]; Involved in oxygen transport from the lung to the various peripheral tissues., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; This study, for the first time, confirms the presence of two isoforms for both the alpha2- and alpha1-globin genes with varying transcription levels in healthy individuals., [RefSeq, PubMed]; [Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations]., [RefSeq, PubMed]; [Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene]., [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": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 4, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "P01922;Q1HDT5;Q3MIF5;Q53F97;Q96KF1;Q9NYR7;Q9UCM0", "ec_number_list": [], "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0019825 oxygen binding;GO:0005344 oxygen carrier activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006954 inflammatory response;GO:0042542 response to hydrogen peroxide;GO:0042744 hydrogen peroxide catabolic process;GO:0015670 carbon dioxide transport;GO:0030185 nitric oxide transport", "synthesized_glycan_count": 0, "hit_score": 33.1, "record_id": "P69905-1", "record_type": "protein", "filter_code": "0000000.1010111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62805-1", "uniprot_id": [ { "id": "H4_HUMAN", "url": "https://www.uniprot.org/uniprot/P62805", "type": "external" } ], "mass": 11367.0, "length": 103, "protein_name": "Histone H4", "gene_name": "H4C11; H4C12; H4C13; H4C14; H4C15; H4C16; H4C1; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9", "organism": "Human", "refseq_name": "histone H4", "refseq_ac": [ { "id": "NP_001029249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001029249", "type": "external" } ], "gene_names_uniprotkb": "H4C11; H4C12; H4C13; H4C14; H4C15; H4C16; H4C1; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9; A; B; C; D; E; G; H4-16; H4F2; H4FA; H4FB; H4FC; H4FD; H4FE; H4FG; H4FH; H4FI; H4FJ; H4FK; H4FM; H4FN; H4FO; HIST1H4A; HIST1H4B; HIST1H4C; HIST1H4D; HIST1H4E; HIST1H4F; HIST1H4H; HIST1H4I; HIST1H4J; HIST1H4K; HIST1H4L; HIST2H4A; HIST2H4B; HIST2H4; HIST4H4; H; I; J; K; M; N; O", "gene_names_refseq": "H4/o; H4C15; HIST2H4B", "protein_names_uniprotkb": "Histone H4", "protein_names_refseq": "histone 2, H4b; histone H4; histone cluster 2 H4 family member b; histone cluster 2, H4b", "tax_id": 9606, "disease": "Tessadori-van Haaften neurodevelopmental syndrome 1 (MONDO:MONDO:0030729); Tessadori-van Haaften neurodevelopmental syndrome 2 (MONDO:MONDO:0030730); Tessadori-Van Haaften neurodevelopmental syndrome 3 (MONDO:MONDO:0030993); Tessadori-Van Haaften neurodevelopmental syndrome 4 (MONDO:MONDO:0031000)", "pathway": " (hsa:121504); (hsa:554313); (hsa:8294); (hsa:8359); (hsa:8360); (hsa:8361); (hsa:8362); (hsa:8363); (hsa:8364); (hsa:8365); (hsa:8366); (hsa:8367); (hsa:8368); (hsa:8370); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-1912408); (R-HSA-201722); (R-HSA-212300); (R-HSA-2299718); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559586); (R-HSA-3214815); (R-HSA-3214841); (R-HSA-3214842); (R-HSA-3214847); (R-HSA-3214858); (R-HSA-427359); (R-HSA-427389); (R-HSA-427413); (R-HSA-4551638); (R-HSA-5250924); (R-HSA-5334118); (R-HSA-5578749); (R-HSA-5617472); (R-HSA-5625886); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-606279); (R-HSA-68616); (R-HSA-69473); (R-HSA-73728); (R-HSA-73772); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-9018519); (R-HSA-912446); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9616222); (R-HSA-9670095); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-977225); (R-HSA-9821002); (R-HSA-9821993); (R-HSA-9841922); (R-HSA-9843940); (R-HSA-9843970); (R-HSA-9845323); (R-HSA-9909649); (R-HSA-9918481); (R-HSA-9937850); (R-HSA-9940465); (R-HSA-9940951); (R-HSA-9943411); (R-HSA-9943962); (R-HSA-9970672)", 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"class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-dependent histone that is a member of the histone H4 family. Some transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, May 2020]., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 104, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A2VCL0;P02304;P02305;Q6DRA9;Q6FGB8;Q6NWP7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0032200 telomere organization;GO:0006325 chromatin organization;GO:0006334 nucleosome assembly;GO:0045653 negative regulation of megakaryocyte differentiation;GO:0061644 protein localization to CENP-A containing chromatin", "synthesized_glycan_count": 0, "hit_score": 141.0, "record_id": "P62805-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXK0-1", "uniprot_id": [ { "id": "PHC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXK0", "type": "external" } ], "mass": 90713.0, "length": 858, "protein_name": "Polyhomeotic-like protein 2", "gene_name": "PHC2", "organism": "Human", "refseq_name": "polyhomeotic-like protein 2 isoform b", "refseq_ac": [ { "id": "NP_004418", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004418", "type": "external" } ], "gene_names_uniprotkb": "PHC2; EDR2; PH2", "gene_names_refseq": "EDR2; HPH2; PH2; PHC2", "protein_names_uniprotkb": "Polyhomeotic-like protein 2; Early development regulatory protein 2; hPH2", "protein_names_refseq": "early development regulator 2 (homolog of polyhomeotic 2); early development regulatory protein 2; polyhomeotic-like 2; polyhomeotic-like protein 2 isoform b; polyhomeotic-like protein 2", "tax_id": 9606, "disease": "proximal symphalangism (Disease Ontology:DOID:0050788); tarsal-carpal coalition syndrome (Disease Ontology:DOID:0050789); esophageal atresia/tracheoesophageal fistula (Disease Ontology:DOID:0080171); proximal symphalangism 1 (Disease Ontology:DOID:0080787); multiple synostoses syndrome 1 (Disease Ontology:DOID:0081317); brachydactyly type B2 (Disease Ontology:DOID:0110975); acute kidney tubular necrosis (Disease Ontology:DOID:12556); Huntington's disease (Disease Ontology:DOID:12858); cancer (Disease Ontology:DOID:162); craniosynostosis (Disease Ontology:DOID:2340); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); cleft lip (Disease Ontology:DOID:9296); type 2 diabetes mellitus (Disease Ontology:DOID:9352); hyperopia (Disease Ontology:DOID:9834)", "pathway": " (hsa:1912); (R-HSA-2559580); (R-HSA-3108214); (R-HSA-3899300); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4655427); (R-HSA-8939243); (R-HSA-8943724); (R-HSA-9976102)", "pathway_count": 10, "publication_count": 246, "publication_id_list": "10.1101/2023.09.13.557529;10347217;10574707;10722742;10772813;10871633;10976766;11237011;11378386;11477070;11545734;11564866;11735126;11781575;11792325;11842083;11889051;11959846;11960997;12032081;12134156;12150977;12167701;12189133;12193592;12196509;12384788;12421820;12435631;12529333;12679040;12718889;12808055;13130464;14507994;14532106;14578449;14701874;15082759;15094067;15161980;15175327;15199155;15287722;15302935;15355988;15386022;15563468;15592428;15608651;15766567;15823533;15829507;15866172;15940266;15958389;15959518;15976810;16030353;16098147;16186825;16337592;16418168;16436515;16478998;16608850;16626738;16676006;16688858;16702404;16757475;16810316;16826196;16917507;17018294;17079232;17081986;17210787;17254968;17255097;17287340;17298944;17332741;17344414;17369852;17395714;17525332;17535915;17693435;17765224;17803295;17825402;17873065;17875933;17942393;17974977;18082607;18172008;18211901;18339323;18365017;18391013;18408014;18487508;18488044;18625722;18628979;18669648;18691969;18695000;18708356;18762900;18793328;19240082;19287951;19440552;19450230;19451217;19451218;19462008;19528227;19596686;19615980;19622798;19636380;19690332;19691289;19706679;19779455;19884659;19956565;19995069;20016594;20016603;20068231;20098713;20112406;20176810;20190268;20233713;20351170;20417598;20506188;20516213;20676127;20705237;20797632;20797634;21098080;21147198;21284855;21289308;21338522;21527249;21550342;21647297;21986495;22020331;22128185;22325351;22325352;22336108;22402492;22467880;22493095;22508508;22635276;22661230;22683641;22713328;22751501;22825850;23092970;23186163;23287862;23301498;23404503;23673342;23750026;23871147;24027577;24068740;24369422;24718924;24782567;25114211;25218447;25391492;25418920;25576301;25704882;25728608;25800734;26910647;26992070;27068747;27846572;29485866;29493099;29557506;30429286;31844290;32157095;32387766;32488085;32938616;32983136;33298915;33392160;33968037;34019948;35051231;35138101;36010968;36241641;36284347;37217939;7535770;7588633;7816143;7859739;8001816;8078588;8259215;8319905;8622669;8622688;8626550;8741839;8774846;8846784;8974401;9030721;9121482;9162092;9195981;9199346;9412458;9452416;9529249;9564042;9628874;9756909;9768359;9824166;9885291", "class_list": "", "function": "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., [UniProtKB]; In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 0, "predicted_o_glycosites": 6, "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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 14, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A1L4Q1;A8KA40;D3DPR2;Q2TAL3;Q5T0C1;Q6NUJ6;Q6ZQR1;Q8N306;Q8TAG8;Q96BL4;Q9Y4Y7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0000792 heterochromatin;GO:0031519 PcG protein complex", "go_biological_process": "GO:0045892 negative regulation of DNA-templated transcription;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 25.1, "record_id": "Q8IXK0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8HWS3-1", "uniprot_id": [ { "id": "RFX6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8HWS3", "type": "external" } ], "mass": 102461.0, "length": 928, "protein_name": "DNA-binding protein RFX6", "gene_name": "RFX6", "organism": "Human", "refseq_name": "DNA-binding protein RFX6", "refseq_ac": [ { "id": "NP_775831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775831", "type": "external" } ], "gene_names_uniprotkb": "RFX6; RFXDC1", "gene_names_refseq": "MTCHRS; MTFS; RFX6; RFXDC1; dJ955L16.1", "protein_names_uniprotkb": "DNA-binding protein RFX6; Regulatory factor X 6; Regulatory factor X domain-containing protein 1", "protein_names_refseq": "DNA-binding protein RFX6; regulatory factor X domain-containing protein 1; regulatory factor X, 6", "tax_id": 9606, "disease": "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome (MONDO:MONDO:0017400)", "pathway": " (hsa:222546); (R-HSA-210745)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "18673564;19615748;20148032;20676098;21215266;23481700;24715725;25497100;26992070;29393594;29557506;31844290;32938616;33592498;34509645;38064570;38093528;38587174;38743124;38932472", "class_list": "", "function": "An Inherited Allele Confers Prostate Cancer Progression and Drug Resistance via RFX6/HOXA10-Orchestrated TGFbeta Signaling., [RefSeq, PubMed]; In early development Rfx6 plays a broad role, being essential for development of most anterior endodermal organs. At later stages however, Rfx6 function is restricted to endocrine cells., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RFX6 Maintains Gene Expression and Function of Adult Human Islet alpha-Cells., [RefSeq, PubMed]; RFX6 facilitates aerobic glycolysis-mediated growth and metastasis of hepatocellular carcinoma through targeting PGAM1., [RefSeq, PubMed]; RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function., [RefSeq, PubMed]; RFX6 is a winged helix transcription factor expressed almost exclusively in the pancreatic islets. Publication Status: Online-Only, [RefSeq, PubMed]; RFX6 regulates human intestinal patterning and function upstream of PDX1. Erratum:[Development. 2024 Sep 15;151(18):dev204379. doi: 10.1242/dev.204379. PMID: 39302049], [RefSeq, PubMed]; Studies demonstrate a unique position for Rfx6 in the hierarchy of factors that coordinate pancreatic islet development in both mice and humans, [RefSeq, PubMed]; The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]., [RefSeq]; Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin (PubMed:20148032, PubMed:25497100). Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the promoter of target genes (PubMed:20148032). Involved in glucose-stimulated insulin secretion by promoting insulin and L-type calcium channel gene transcription (PubMed:25497100)., [UniProtKB, PubMed, 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": 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": 15, "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": "Q5T6B3", "ec_number_list": [], "go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000976 transcription cis-regulatory region 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: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:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0042593 glucose homeostasis", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8HWS3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6E7-1", "uniprot_id": [ { "id": "SIR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6E7", "type": "external" } ], "mass": 35188.0, "length": 314, "protein_name": "NAD-dependent protein lipoamidase sirtuin-4, mitochondrial", "gene_name": "SIRT4", "organism": "Human", "refseq_name": "NAD-dependent protein lipoamidase sirtuin-4, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_036372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036372", "type": "external" } ], "gene_names_uniprotkb": "SIRT4; SIR2L4", "gene_names_refseq": "SIR2L4; SIRT4", "protein_names_uniprotkb": "NAD-dependent protein lipoamidase sirtuin-4, mitochondrial; 2.3.1.-; 2.3.1.286; 2.4.2.-; NAD-dependent ADP-ribosyltransferase sirtuin-4; NAD-dependent protein biotinylase sirtuin-4; NAD-dependent protein deacetylase sirtuin-4; Regulatory protein SIR2 homolog 4; SIR2-like protein 4", "protein_names_refseq": "NAD-dependent ADP-ribosyltransferase sirtuin-4; NAD-dependent protein biotinylase sirtuin-4; NAD-dependent protein deacetylase sirtuin-4; NAD-dependent protein lipoamidase sirtuin-4, mitochondrial isoform 1; NAD-dependent protein lipoamidase sirtuin-4, mitochondrial; SIR2-like protein 4; regulatory protein SIR2 homolog 4; sir2-like 4; sirtuin type 4", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208)", "pathway": " (hsa:23409); (R-HSA-204174); (R-HSA-2151201)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10381378;10412986;10643692;10713165;11237011;11327815;11340167;11485553;11486000;11809803;12374852;12563009;12745923;15684387;15855260;16079181;16079853;16788062;16890199;16908542;16911507;16959573;17031457;17437997;17532339;17544412;17715127;17923681;17924679;18215119;18343819;18680753;19001277;19356719;19417006;19833728;19951946;20884751;23438705;23562301;23663782;24043310;24052263;25525879;28218747;29437277;30315122;33912179;35051231;37858614;38499327;38548246;38586875;39121020;7499431;7629110;7799916;8108407;8333869;8798399;9178750;9286700;9395502;9405293;9651365;9710704;9815194", "class_list": "", "function": "Acts as a NAD-dependent protein lipoamidase, biotinylase, deacetylase and ADP-ribosyl transferase (PubMed:16959573, PubMed:17715127, PubMed:24052263, PubMed:25525879). Catalyzes more efficiently removal of lipoyl- and biotinyl- than acetyl-lysine modifications (PubMed:24052263, PubMed:25525879). Inhibits the pyruvate dehydrogenase complex (PDH) activity via the enzymatic hydrolysis of the lipoamide cofactor from the E2 component, DLAT, in a phosphorylation-independent manner (PubMed:25525879). Catalyzes the transfer of ADP-ribosyl groups onto target proteins, including mitochondrial GLUD1, inhibiting GLUD1 enzyme activity (PubMed:16959573, PubMed:17715127). Acts as a negative regulator of mitochondrial glutamine metabolism by mediating mono ADP-ribosylation of GLUD1: expressed in response to DNA damage and negatively regulates anaplerosis by inhibiting GLUD1, leading to block metabolism of glutamine into tricarboxylic acid cycle and promoting cell cycle arrest (PubMed:16959573, PubMed:17715127). In response to mTORC1 signal, SIRT4 expression is repressed, promoting anaplerosis and cell proliferation (PubMed:23663782). Acts as a tumor suppressor (PubMed:23562301, PubMed:23663782). Also acts as a NAD-dependent protein deacetylase: mediates deacetylation of 'Lys-471' of MLYCD, inhibiting its activity, thereby acting as a regulator of lipid homeostasis (By similarity). Does not seem to deacetylate PC (PubMed:23438705). Controls fatty acid oxidation by inhibiting PPARA transcriptional activation (PubMed:24043310). Impairs SIRT1-PPARA interaction probably through the regulation of NAD(+) levels (PubMed:24043310). Down-regulates insulin secretion (PubMed:17715127)., [UniProtKB, PubMed, PubMed, PubMed, HAMAP, PubMed, PubMed, PubMed, PubMed, PubMed]; Decreased sirtuin 4 levels promote cellular proliferation and invasion in papillary thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; SIRT3 and SIRT4 double-genes remodeled the mitochondrial network to induce hepatocellular carcinoma cell line differentiation and suppress malignant phenotypes., [RefSeq, PubMed]; SIRT4 as a novel interactor and candidate suppressor of C-RAF kinase in MAPK signaling. Publication Status: Online-Only, [RefSeq, PubMed]; SIRT4 is a regulator of human skeletal muscle fatty acid metabolism influencing inner and outer mitochondrial membrane-mediated fusion., [RefSeq, PubMed]; SIRT4 promotes neuronal apoptosis in models of Alzheimer's disease via the STAT2-SIRT4-mTOR pathway., [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 IV of the sirtuin family. [provided by RefSeq, Jul 2008]., [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": 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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O43346;Q32M33", "ec_number_list": [ { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.12", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "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:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0008270 zinc ion binding;GO:0070403 NAD+ binding;GO:0004407 histone deacetylase activity;GO:0016779 nucleotidyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0046322 negative regulation of fatty acid oxidation;GO:0046889 positive regulation of lipid biosynthetic process;GO:0071456 cellular response to hypoxia;GO:0006974 DNA damage response;GO:0046676 negative regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9Y6E7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13424-1", "uniprot_id": [ { "id": "SNTA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13424", "type": "external" } ], "mass": 53895.0, "length": 505, "protein_name": "Alpha-1-syntrophin", "gene_name": "SNTA1", "organism": "Human", "refseq_name": "alpha-1-syntrophin isoform 1", "refseq_ac": [ { "id": "NP_003089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003089", "type": "external" } ], "gene_names_uniprotkb": "SNTA1; SNT1", "gene_names_refseq": "LQT12; SNT1; SNTA1; TACIP1; dJ1187J4.5", "protein_names_uniprotkb": "Alpha-1-syntrophin; 59 kDa dystrophin-associated protein A1 acidic component 1; Pro-TGF-alpha cytoplasmic domain-interacting protein 1; Syntrophin-1; TACIP1", "protein_names_refseq": "59 kDa dystrophin-associated protein A1 acidic component 1; acidic alpha 1 syntrophin; alpha-1-syntrophin isoform 1; alpha-1-syntrophin; dystrophin-associated protein A1, 59kDa, acidic component; pro-TGF-alpha cytoplasmic domain-interacting protein 1; syntrophin-1", "tax_id": 9606, "disease": "long QT syndrome 12 (Disease Ontology:DOID:0110653); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); status epilepticus (Disease Ontology:DOID:1824); long QT syndrome (Disease Ontology:DOID:2843); sudden infant death syndrome (Disease Ontology:DOID:9007); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:6640); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10022829;10189375;10212242;10230395;10441321;10545507;10893187;10932245;10942431;11163757;11352924;11430802;11495720;12189167;1319059;15175026;16524571;17081983;17905726;18591664;18669648;18764929;18767875;19346169;19413330;19684871;19946898;20044576;20068231;22159078;22223806;23186163;23481700;24275569;24714562;24715725;25645385;26154972;28218747;28832583;29242379;29557506;30429286;30779550;31154438;31844290;32157095;32161166;32265295;32387766;32488085;32502341;3282674;32897882;32938616;33298915;33592498;33691108;33968037;35051231;35251023;35580925;35762211;36010968;36241641;36284347;7527495;7547961;7592992;7844150;7925941;8043271;8268918;8349731;8576247;8607994;8612778;8627307;8798547;8845841;9214383;9405466;9412493;9652404;9864373", "class_list": "", "function": "Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity)., [UniProtKB]; SNTA1 gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients. Publication Status: Online-Only, [RefSeq, PubMed]; Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]., [RefSeq]", "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": 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K7H9;B4DX40;E1P5N1;Q16438", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003779 actin binding;GO:0005516 calmodulin binding;GO:0051117 ATPase binding;GO:0017080 sodium channel regulator activity", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0031594 neuromuscular junction;GO:0042383 sarcolemma", "go_biological_process": "GO:0006936 muscle contraction;GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization;GO:0035022 positive regulation of Rac protein signal transduction;GO:0002027 regulation of heart rate;GO:0086005 ventricular cardiac muscle cell action potential", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q13424-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57059-1", "uniprot_id": [ { "id": "SIK1_HUMAN", "url": "https://www.uniprot.org/uniprot/P57059", "type": "external" } ], "mass": 84902.0, "length": 783, "protein_name": "Serine/threonine-protein kinase SIK1", "gene_name": "SIK1", "organism": "Human", "refseq_name": "putative serine/threonine-protein kinase SIK1B", "refseq_ac": [ { "id": "NP_001307572", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307572", "type": "external" } ], "gene_names_uniprotkb": "SIK1; SIK; SNF1LK", "gene_names_refseq": "LOC102724428; SIK-1; SIK1B; SIK1; SIK; SNF1LK", "protein_names_uniprotkb": "Serine/threonine-protein kinase SIK1; 2.7.11.1; SIK-1; Salt-inducible kinase 1; Serine/threonine-protein kinase SNF1-like kinase 1; Serine/threonine-protein kinase SNF1LK", "protein_names_refseq": "Salt-inducible kinase 1; Serine/threonine-protein kinase SNF1-like kinase 1; Serine/threonine-protein kinase SNF1LK; probable serine/threonine-protein kinase SIK1B; putative serine/threonine-protein kinase SIK1B; salt-inducible kinase 1B; serine/threonine-protein kinase SIK1", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 30 (Disease Ontology:DOID:0080465)", "pathway": " (hsa:102724428); (hsa:150094); (R-HSA-9931510)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "10857746;11237011;12200423;14750904;14976552;16306228;17344846;17525332;17939993;17994337;18317514;18348280;18946175;19622832;1971514;19748539;22424782;23481700;25384047;25645385;25839329;26811146;27846572;27869121;28514659;28832583;28855257;29211348;29242379;29393594;29557506;29632046;29786170;30379171;30524438;30833945;32157095;32161166;32938616;32983136;33013689;33968037;34509645;35051231;35318648;36010968;36241641", "class_list": "", "function": "Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, gluconeogenesis and lipogenesis regulation, muscle growth and differentiation and tumor suppression. Phosphorylates HDAC4, HDAC5, PPME1, SREBF1, CRTC1/TORC1. Inhibits CREB activity by phosphorylating and inhibiting activity of TORCs, the CREB-specific coactivators, like CRTC2/TORC2 and CRTC3/TORC3 in response to cAMP signaling (PubMed:29211348). Acts as a tumor suppressor and plays a key role in p53/TP53-dependent anoikis, a type of apoptosis triggered by cell detachment: required for phosphorylation of p53/TP53 in response to loss of adhesion and is able to suppress metastasis. Part of a sodium-sensing signaling network, probably by mediating phosphorylation of PPME1: following increases in intracellular sodium, SIK1 is activated by CaMK1 and phosphorylates PPME1 subunit of protein phosphatase 2A (PP2A), leading to dephosphorylation of sodium/potassium-transporting ATPase ATP1A1 and subsequent increase activity of ATP1A1. Acts as a regulator of muscle cells by phosphorylating and inhibiting class II histone deacetylases HDAC4 and HDAC5, leading to promote expression of MEF2 target genes in myocytes. Also required during cardiomyogenesis by regulating the exit of cardiomyoblasts from the cell cycle via down-regulation of CDKN1C/p57Kip2. Acts as a regulator of hepatic gluconeogenesis by phosphorylating and repressing the CREB-specific coactivators CRTC1/TORC1 and CRTC2/TORC2, leading to inhibit CREB activity. Also regulates hepatic lipogenesis by phosphorylating and inhibiting SREBF1. In concert with CRTC1/TORC1, regulates the light-induced entrainment of the circadian clock by attenuating PER1 induction; represses CREB-mediated transcription of PER1 by phosphorylating and deactivating CRTC1/TORC1 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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, "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": 12, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 8, "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": "A6NC84;Q5R2V5;Q6ZNL8;Q86YJ2", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "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": "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": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0010830 regulation of myotube differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0002028 regulation of sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "P57059-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13326-1", "uniprot_id": [ { "id": "SGCG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13326", "type": "external" } ], "mass": 32379.0, "length": 291, "protein_name": "Gamma-sarcoglycan", "gene_name": "SGCG", "organism": "Human", "refseq_name": "gamma-sarcoglycan isoform 1", "refseq_ac": [ { "id": "NP_000222", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000222", "type": "external" } ], "gene_names_uniprotkb": "SGCG", "gene_names_refseq": "35DAG; A4; DAGA4; DMDA1; DMDA; LGMD2C; LGMDR5; MAM; SCARMD2; SGCG; gamma-SG", "protein_names_uniprotkb": "Gamma-sarcoglycan; 35 kDa dystrophin-associated glycoprotein; 35DAG; Gamma-SG", "protein_names_refseq": "35 kDa dystrophin-associated glycoprotein; 35kD dystrophin-associated glycoprotein; gamma-sarcoglycan isoform 1; gamma-sarcoglycan; sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); autosomal recessive limb-girdle muscular dystrophy type 2C (Disease Ontology:DOID:0110277); dilated cardiomyopathy 1L (Disease Ontology:DOID:0110436); limb-girdle muscular dystrophy (Disease Ontology:DOID:11724); type 2 diabetes mellitus (Disease Ontology:DOID:9352); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:6445); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10022829;10189375;10441321;10545507;10629222;10714584;10893187;10932245;10942431;11352924;11430802;11495720;12189167;1319059;15175026;16524571;17905726;18764929;19346169;19946898;20044576;22159078;22223806;30345904;31682967;32527767;3282674;35051231;36292638;38170217;7481775;7527495;7547961;7592992;7844150;7925941;8043271;8268918;8349731;8576247;8607994;8627307;8798547;8845841;8900232;8968757;9214383;9405466;9412493;9652404;9864373", "class_list": "", "function": "Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix., [UniProtKB]; Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs. Erratum:[Acta Neuropathol. 2024 Jun 13;147(1):99. doi: 10.1007/s00401-024-02748-4. PMID: 38871840] Publication Status: Online-Only, [RefSeq, PubMed]; Expression, purification, and structural analysis of the full-length human integral membrane protein gamma-sarcoglycan., [RefSeq, PubMed]; Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy. Publication Status: Online-Only, [RefSeq, PubMed]; SGCG rs679482 Associates With Weight Loss Success in Response to an Intensively Supervised Outpatient Program., [RefSeq, PubMed]; This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]., [RefSeq]", "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q32M32;Q5T9J6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0031594 neuromuscular junction;GO:0005789 endoplasmic reticulum membrane;GO:0042383 sarcolemma", "go_biological_process": "GO:0060047 heart contraction;GO:0007517 muscle organ development;GO:0048738 cardiac muscle tissue development;GO:0043010 camera-type eye development", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q13326-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43815-1", "uniprot_id": [ { "id": "STRN_HUMAN", "url": "https://www.uniprot.org/uniprot/O43815", "type": "external" } ], "mass": 86132.0, "length": 780, "protein_name": "Striatin", "gene_name": "STRN", "organism": "Human", "refseq_name": "striatin", "refseq_ac": [ { "id": "NP_003153", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003153", "type": "external" } ], "gene_names_uniprotkb": "STRN", "gene_names_refseq": "PPP2R6A; SG2NA; STRN1; STRN", "protein_names_uniprotkb": "Striatin", "protein_names_refseq": "protein phosphatase 2 regulatory subunit B'''alpha; striatin, calmodulin binding protein; striatin", "tax_id": 9606, "disease": "", "pathway": " (hsa:6801); (R-HSA-1257604); (R-HSA-2219530); (R-HSA-6811558); (R-HSA-9009391); (R-HSA-9673766); (R-HSA-9700645); (R-HSA-9725370)", "pathway_count": 8, "publication_count": 297, "publication_id_list": "10191262;10216106;10319328;10427092;10556217;10702393;10706082;10706887;10749889;10806474;10934142;11029009;11029403;11043579;11044445;11110708;11147812;11185956;11280786;11310834;11369763;11504915;11689445;11751994;11773442;11773443;11803464;11825873;11850821;11943732;11981029;11988758;12048194;12112524;12167717;12185581;12388769;12421825;12424201;12431978;12511868;12588983;12660384;12682286;12750159;12767043;12800156;12808053;12881510;12920229;12934099;1325671;1378832;14556779;14764897;14962911;15033483;15044318;15090535;15169778;15208656;15231873;15314172;15374880;15467163;15496458;15569929;15588951;15657067;15705661;15718470;15834429;15895073;15956360;16150497;16153455;16161041;16170336;16239258;16274718;16339315;16456541;16636149;16645038;16647110;16690743;16825495;16835357;16871283;16939498;17037979;17086210;17185414;17200115;17353907;17416736;17424910;17483340;17525128;17535799;17625570;17626883;17916740;17921256;18079394;18097461;18206197;18317450;18452278;18452557;18593892;18594010;18594509;18606717;18657504;18669648;18701132;18724359;18754654;18755892;18782753;18829560;18923523;18923524;18923525;18925875;19138696;19185485;19210352;19369195;19411071;19413330;19415658;19456272;19459784;19576174;19644473;19651622;19664994;19690332;19805105;19879889;19962665;20068231;20085582;20231295;20338997;20439495;20454865;20522708;20650261;20713702;20861220;20889717;21134980;21164297;21188471;21213368;21317208;21368164;21415216;21478295;21494621;21502504;21596819;21656749;21668414;21680538;21827948;21838707;21847362;21851428;21948233;21976531;21984976;22028449;22031296;22120714;22188813;22249260;22266855;22327622;22347464;22446104;22570254;22588880;22658521;22802530;23104988;23139213;23186163;23201355;23239810;23661334;23957430;24039841;24060861;24275569;24445538;24475247;24496003;24518094;24530924;24613930;24675041;24715725;24736082;25228534;25342631;25393796;25418920;25421750;25576301;25587652;25813404;25880248;25921060;26001147;26062823;26154972;26301689;26464158;26876214;26939704;26992070;27170215;27245569;27288742;27573755;27874193;28010895;28404650;28539435;28659337;28741662;29437277;29455642;29493099;29557506;29738483;29873274;30131584;30429286;30692217;30833945;31154438;31366041;31388026;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33592498;33691108;33912179;33968037;34087483;34171305;34357683;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36602306;37147942;37938771;38018471;40914422;7526779;7637810;7744773;7750475;7824924;8633037;8645157;8657148;8782602;8876252;9173876;9395517;9565625;9616126;9693043;9736715;9819383;9895304", "class_list": "", "function": "Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes (PubMed:18782753). STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (Probable)., [UniProtKB, PubMed, PubMed]; Phosphorylation of Influenza A Virus Matrix Protein 1 at Threonine 108 Controls Its Multimerization State and Functional Association with the STRIPAK Complex., [RefSeq, PubMed]; Placental expression of striatin & endothelial nitric oxide synthase in women with & without pre-eclampsia., [RefSeq, PubMed]; Striatin Gene Variants Are Associated With Salt Sensitivity of Blood Pressure by Mechanisms That Differ in Women and Men., [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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "Q3KP65;Q53TQ8;Q9NP38", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0030674 protein-macromolecule adaptor activity;GO:0044877 protein-containing complex binding;GO:0051721 protein phosphatase 2A binding;GO:0030331 nuclear estrogen receptor binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005923 bicellular tight junction;GO:0014069 postsynaptic density;GO:0016020 membrane;GO:0030425 dendrite", "go_biological_process": "GO:0035330 regulation of hippo signaling;GO:0007626 locomotory behavior;GO:0008285 negative regulation of cell population proliferation;GO:0016358 dendrite development;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 30.0, "record_id": "O43815-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49841-1", "uniprot_id": [ { "id": "GSK3B_HUMAN", "url": "https://www.uniprot.org/uniprot/P49841", "type": "external" } ], "mass": 46744.0, "length": 420, "protein_name": "Glycogen synthase kinase-3 beta", "gene_name": "GSK3B", "organism": "Human", "refseq_name": "glycogen synthase kinase-3 beta isoform 2", "refseq_ac": [ { "id": "NP_001139628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139628", "type": "external" } ], "gene_names_uniprotkb": "GSK3B", "gene_names_refseq": "GSK3B", "protein_names_uniprotkb": "Glycogen synthase kinase-3 beta; 2.7.11.1; 2.7.11.26; GSK-3 beta; Serine/threonine-protein kinase GSK3B", "protein_names_refseq": "GSK-3 beta; glycogen synthase kinase-3 beta isoform 2; serine/threonine-protein kinase GSK3B", "tax_id": 9606, "disease": "diabetic encephalopathy (Disease Ontology:DOID:0050850); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114); sciatic neuropathy (Disease Ontology:DOID:11446); Parkinson's disease (Disease Ontology:DOID:14330); depressive disorder (Disease Ontology:DOID:1596); status epilepticus (Disease Ontology:DOID:1824); colon cancer (Disease Ontology:DOID:219); endometrial carcinoma (Disease Ontology:DOID:2871); substance-related disorder (Disease Ontology:DOID:303); bipolar disorder (Disease Ontology:DOID:3312); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); middle cerebral artery infarction (Disease Ontology:DOID:3525); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); vascular dementia (Disease Ontology:DOID:8725); degenerative disc disease (Disease Ontology:DOID:90); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408)", "pathway": " (hsa:2932); (R-HSA-195253); (R-HSA-196299); (R-HSA-198323); (R-HSA-3371453); (R-HSA-399956); (R-HSA-4641262); (R-HSA-5250924); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5674400); (R-HSA-69601); (R-HSA-75815); (R-HSA-8939902); (R-HSA-9683610); (R-HSA-9694631); (R-HSA-9762114); (R-HSA-9856649); (R-HSA-9929356)", "pathway_count": 27, "publication_count": 692, "publication_id_list": 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"class_list": "", "function": "Anti-inflammatory effects of MerTK by inducing M2 macrophage polarization via PI3K/Akt/GSK-3beta pathway in gout., [RefSeq, PubMed]; Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), EIF2B, CTNNB1/beta-catenin, APC, AXIN1, DPYSL2/CRMP2, JUN, NFATC1/NFATC, MAPT/TAU and MACF1 (PubMed:11430833, PubMed:12554650, PubMed:14690523, PubMed:16484495, PubMed:1846781, PubMed:20937854, PubMed:9072970). Requires primed phosphorylation of the majority of its substrates (PubMed:11430833, PubMed:16484495). In skeletal muscle, contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis (PubMed:8397507). May also mediate the development of insulin resistance by regulating activation of transcription factors (PubMed:8397507). Regulates protein synthesis by controlling the activity of initiation factor 2B (EIF2BE/EIF2B5) in the same manner as glycogen synthase (PubMed:8397507). In Wnt signaling, GSK3B forms a multimeric complex with APC, AXIN1 and CTNNB1/beta-catenin and phosphorylates the N-terminus of CTNNB1 leading to its degradation mediated by ubiquitin/proteasomes (PubMed:12554650). Phosphorylates JUN at sites proximal to its DNA-binding domain, thereby reducing its affinity for DNA (PubMed:1846781). Phosphorylates NFATC1/NFATC on conserved serine residues promoting NFATC1/NFATC nuclear export, shutting off NFATC1/NFATC gene regulation, and thereby opposing the action of calcineurin (PubMed:9072970). Phosphorylates MAPT/TAU on 'Thr-548', decreasing significantly MAPT/TAU ability to bind and stabilize microtubules (PubMed:14690523). MAPT/TAU is the principal component of neurofibrillary tangles in Alzheimer disease (PubMed:14690523). Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854). Phosphorylates MACF1, inhibiting its binding to microtubules which is critical for its role in bulge stem cell migration and skin wound repair (By similarity). Probably regulates NF-kappa-B (NFKB1) at the transcriptional level and is required for the NF-kappa-B-mediated anti-apoptotic response to TNF (TNF/TNFA) (By similarity). Negatively regulates replication in pancreatic beta-cells, resulting in apoptosis, loss of beta-cells and diabetes (By similarity). Through phosphorylation of the anti-apoptotic protein MCL1, may control cell apoptosis in response to growth factors deprivation (By similarity). Phosphorylates MUC1 in breast cancer cells, decreasing the interaction of MUC1 with CTNNB1/beta-catenin (PubMed:9819408). Is necessary for the establishment of neuronal polarity and axon outgrowth (PubMed:20067585). Phosphorylates MARK2, leading to inhibition of its activity (By similarity). Phosphorylates SIK1 at 'Thr-182', leading to sustainment of its activity (PubMed:18348280). Phosphorylates ZC3HAV1 which enhances its antiviral activity (PubMed:22514281). Phosphorylates SNAI1, leading to its ubiquitination and proteasomal degradation (PubMed:15448698, PubMed:15647282, PubMed:25827072, PubMed:29059170). Phosphorylates SFPQ at 'Thr-687' upon T-cell activation (PubMed:20932480). Phosphorylates NR1D1 st 'Ser-55' and 'Ser-59' and stabilizes it by protecting it from proteasomal degradation. Regulates the circadian clock via phosphorylation of the major clock components including BMAL1, CLOCK and PER2 (PubMed:19946213, PubMed:28903391). Phosphorylates FBXL2 at 'Thr-404' and primes it for ubiquitination by the SCF(FBXO3) complex and proteasomal degradation (By similarity). Phosphorylates CLOCK AT 'Ser-427' and targets it for proteasomal degradation (PubMed:19946213). Phosphorylates BMAL1 at 'Ser-17' and 'Ser-21' and primes it for ubiquitination and proteasomal degradation (PubMed:28903391). Phosphorylates OGT at 'Ser-3' or 'Ser-4' which positively regulates its activity. Phosphorylates MYCN in neuroblastoma cells which may promote its degradation (PubMed:24391509). Regulates the circadian rhythmicity of hippocampal long-term potentiation and BMAL1 and PER2 expression (By similarity). Acts as a regulator of autophagy by mediating phosphorylation of KAT5/TIP60 under starvation conditions, activating KAT5/TIP60 acetyltransferase activity and promoting acetylation of key autophagy regulators, such as ULK1 and RUBCNL/Pacer (PubMed:30704899). Negatively regulates extrinsic apoptotic signaling pathway via death domain receptors. Promotes the formation of an anti-apoptotic complex, made of DDX3X, BRIC2 and GSK3B, at death receptors, including TNFRSF10B. The anti-apoptotic function is most effective with weak apoptotic signals and can be overcome by stronger stimulation (PubMed:18846110). Phosphorylates E2F1, promoting the interaction between E2F1 and USP11, stabilizing E2F1 and promoting its activity (PubMed:17050006, PubMed:28992046). Phosphorylates mTORC2 complex component RICTOR at 'Ser-1235' in response to endoplasmic stress, inhibiting mTORC2 (PubMed:21343617). Phosphorylates mTORC2 complex component RICTOR at 'Thr-1695' which facilitates FBXW7-mediated ubiquitination and subsequent degradation of RICTOR (PubMed:25897075). Acts as a negative regulator of smoothened signaling by mediating phosphorylation of GLI2 and GLI3 in absence of smoothened, promoting their processing by the SCF(BTRC) complex (PubMed:16705181). Phosphorylates FXR1, promoting FXR1 ubiquitination by the SCF(FBXO4) complex and FXR1 degradation by the proteasome (By similarity). Phosphorylates interleukin-22 receptor subunit IL22RA1, preventing its proteasomal degradation (By similarity). Phosphorylates and inhibits the CTP synthase and protein-asparagine deamidase activities of CTPS1 (PubMed:17681942). Phosphorylates DSP at multiple sequential serine residues in the C-terminus tail, promoting its recruitment to developing desmosome cell-cell junctions (PubMed:25733715)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; GSK3: A potential target and pending issues for treatment of Alzheimer's disease. Review article, [RefSeq, PubMed]; Structural and functional effects of phosphopriming and scaffolding in the kinase GSK-3beta., [RefSeq, PubMed]; Synergistic Effect between the APOE epsilon4 Allele with Genetic Variants of GSK3B and MAPT: Differential Profile between Refractory Epilepsy and Alzheimer Disease. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a serine-threonine kinase belonging to the glycogen synthase kinase subfamily. It is a negative regulator of glucose homeostasis and is involved in energy metabolism, inflammation, ER-stress, mitochondrial dysfunction, and apoptotic pathways. Defects in this gene have been associated with Parkinson disease and Alzheimer disease. [provided by RefSeq, Aug 2017]., [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": 24, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 24, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 24, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 31, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 22, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "D3DN89;Q9BWH3;Q9UL47", "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", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": 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"url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "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": "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": "3.6.4.13", "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:0034236 protein kinase A catalytic subunit binding;GO:0002020 protease binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0050770 regulation of axonogenesis;GO:0003170 heart valve development;GO:0019082 viral protein processing;GO:0006468 protein phosphorylation;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 71.8, "record_id": "P49841-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JM7-1", "uniprot_id": [ { "id": "LMBL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JM7", "type": "external" } ], "mass": 88337.0, "length": 780, "protein_name": "Lethal(3)malignant brain tumor-like protein 3", "gene_name": "L3MBTL3", "organism": "Human", "refseq_name": "lethal(3)malignant brain tumor-like protein 3 isoform b", "refseq_ac": [ { "id": "NP_001007103", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007103", "type": "external" } ], "gene_names_uniprotkb": "L3MBTL3; KIAA1798; MBT1", "gene_names_refseq": "L3MBTL3; MBT-1; MBT1", "protein_names_uniprotkb": "Lethal(3)malignant brain tumor-like protein 3; H-l(3)mbt-like protein 3; L(3)mbt-like protein 3; L3mbt-like 3; MBT-1", "protein_names_refseq": "H-l(3)mbt-like protein 3; L3MBTL3, histone methyl-lysine binding protein; L3mbt-like 3; l(3)mbt-like 3; lethal(3)malignant brain tumor-like protein 3 isoform b; lethal(3)malignant brain tumor-like protein 3", "tax_id": 9606, "disease": "brain cancer (Disease Ontology:DOID:1319)", "pathway": " (hsa:84456)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "11237011;15889154;17081983;19413330;19664995;19690332;20068231;21406692;23186163;24275569;24715725;25418920;25576301;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29030483;29242379;29393594;29437277;29493099;29557506;29632046;29691401;29786170;30315122;30429286;30442713;30779550;30833945;31217245;31844290;31848261;32157095;32161166;32265295;32387766;32488085;32502341;32897882;32983136;33298915;33392160;33592498;33717175;33968037;33981976;34171305;34185709;34373992;34932366;35051231;35088080;35580925;36215666;36241641;36284347;36477367;37523690;37938771", "class_list": "", "function": "Association of the L3MBTL3 rs1125970 and rs4897367 Gene Polymorphisms With Coronary Heart Disease Susceptibility in the Chinese Population: A Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; Effect of L3MBTL3/PTPN9 polymorphisms on risk to alcohol-induced ONFH in Chinese Han population., [RefSeq, PubMed]; Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis., [RefSeq, PubMed]; Is a negative regulator of Notch target genes expression, required for RBPJ-mediated transcriptional repression (PubMed:29030483). It recruits KDM1A to Notch-responsive elements and promotes KDM1A-mediated H3K4me demethylation (PubMed:29030483). Involved in the regulation of ubiquitin-dependent degradation of a set of methylated non-histone proteins, including SOX2, DNMT1 and E2F1. It acts as an adapter recruiting the CRL4-DCAF5 E3 ubiquitin ligase complex to methylated target proteins (PubMed:29691401, PubMed:30442713). Required for normal maturation of myeloid progenitor cells (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The mouse MBT-1 protein influences myelopoiesis by transiently enhancing p57(KIP2) expression levels., [RefSeq, PubMed]; The structure, binding and function of a Notch transcription complex involving RBPJ and the epigenetic reader protein L3MBTL3., [RefSeq, PubMed]; This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]., [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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "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": "Q4VXE1;Q5VUM9;Q6P9B5", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042393 histone binding;GO:0140034 methylation-dependent protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0006325 chromatin organization;GO:2000060 positive regulation of ubiquitin-dependent protein catabolic process;GO:0160217 negative regulation of transcription initiation-coupled chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q96JM7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19338-1", "uniprot_id": [ { "id": "NUCL_HUMAN", "url": "https://www.uniprot.org/uniprot/P19338", "type": "external" } ], "mass": 76614.0, "length": 710, "protein_name": "Nucleolin", "gene_name": "NCL", "organism": "Human", "refseq_name": "nucleolin", "refseq_ac": [ { "id": "NP_005372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005372", "type": "external" } ], "gene_names_uniprotkb": "NCL", "gene_names_refseq": "C23; NCL; NUCLEOLIN; Nsr1", "protein_names_uniprotkb": "Nucleolin; Protein C23", "protein_names_refseq": "nucleolin", "tax_id": 9606, "disease": "", "pathway": " (hsa:4691); (R-HSA-6791226); (R-HSA-9820960); (R-HSA-9918476)", "pathway_count": 4, "publication_count": 246, "publication_id_list": "10393184;11237011;11477410;11922599;12068309;12147681;12150911;12429849;14654843;15044383;15302935;15345747;15371412;15823039;16037817;16043514;16738141;16964243;17081983;17189298;17215513;17287340;17289661;17322306;17353269;17412707;17487921;17674968;17924679;18065403;18077418;18212344;18438418;18452278;18491316;18669648;18767875;18991276;19007248;19106111;19332556;19413330;19415658;19564402;19608861;19651622;19664995;19690332;19691289;19710015;19748539;19801658;20038530;20056613;20068230;20068231;20112406;20166139;20221403;20230923;20305658;20531386;20798176;20805244;20819938;20858735;21036871;21063389;21081503;21097556;21242313;21406692;21474449;21700224;21740066;21993680;21998300;22072790;22121020;22190735;22195017;22645359;22722860;22869377;22916032;23186163;23439679;23481700;23482395;23783831;23848194;2388630;2394707;23972994;24029068;24129315;24275569;24366607;24424021;24550520;24658146;24714562;24715725;24980433;25114211;25367160;25502872;25505266;25525153;25576301;25645385;25880248;25892735;25969445;26103640;26154972;26237581;26375851;26728094;26758079;26845719;26853435;26992070;2737305;27397612;27452731;27543614;27600516;27846572;27862975;27869121;27920218;28218747;28228285;28332494;28446606;28514659;28589727;28649982;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29427996;29437277;29493099;29508533;29532871;29557506;29632046;29632711;29786170;29789417;29930882;30192525;30315122;30379171;30410026;30429286;30444036;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31717259;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32851058;32897882;32938616;32983136;33043033;33091337;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34509645;34561969;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35452674;35561310;35580925;36010968;36209521;36215666;36241641;36284347;36335647;37074911;37217939;37938771;38139294;38409136;38558098;38665916;39294656;39395807;39531497;39990658;40596516;40914422;7718615;7993898;8321232;9482744", "class_list": "", "function": "Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20. [provided by RefSeq, Jul 2008]., [RefSeq]; Nucleolin expression has prognostic value in neuroblastoma patients., [RefSeq, PubMed]; Nucleolin is the major nucleolar protein of growing eukaryotic cells. It is found associated with intranucleolar chromatin and pre-ribosomal particles. It induces chromatin decondensation by binding to histone H1. It is thought to play a role in pre-rRNA transcription and ribosome assembly. May play a role in the process of transcriptional elongation. Binds RNA oligonucleotides with 5'-UUAGGG-3' repeats more tightly than the telomeric single-stranded DNA 5'-TTAGGG-3' repeats., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Nucleolin; A tumor associated antigen as a potential lung cancer biomarker. Review article, [RefSeq, PubMed]; RGS6 drives cardiomyocyte death following nucleolar stress by suppressing Nucleolin/miRNA-21. Publication Status: Online-Only, [RefSeq, PubMed]; Structural Integrity of Nucleolin Is Required to Suppress TDP-43-Mediated Cytotoxicity in Yeast and Human Cell Models. Publication Status: Online-Only, [RefSeq, PubMed]; TLR4 TIR domain and nucleolin GAR domain synergistically mediate RSV infection and induce neuronal inflammatory damage in SH-SY5Y cells., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "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": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 38, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q53SK1;Q8NB06;Q9UCF0;Q9UDG1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0042162 telomeric DNA binding;GO:0044547 DNA topoisomerase binding;GO:0043560 insulin receptor substrate binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0001525 angiogenesis;GO:0017148 negative regulation of translation;GO:0000398 mRNA splicing, via spliceosome;GO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I;GO:0051252 regulation of RNA metabolic process", "synthesized_glycan_count": 0, "hit_score": 26.0, "record_id": "P19338-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100100001001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95810-1", "uniprot_id": [ { "id": "CAVN2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95810", "type": "external" } ], "mass": 47173.0, "length": 425, "protein_name": "Caveolae-associated protein 2", "gene_name": "CAVIN2", "organism": "Human", "refseq_name": "caveolae-associated protein 2", "refseq_ac": [ { "id": "NP_004648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004648", "type": "external" } ], "gene_names_uniprotkb": "CAVIN2; SDPR", "gene_names_refseq": "CAVIN2; PS-p68; SDPR; SDR; cavin-2", "protein_names_uniprotkb": "Caveolae-associated protein 2; Cavin-2; PS-p68; Phosphatidylserine-binding protein; Serum deprivation-response protein", "protein_names_refseq": "caveolae-associated protein 2; phosphatidylserine-binding protein; serum deprivation response; serum deprivation-response protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:8436)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10191091;17016520;17389395;18160138;18212344;18332105;18491316;18669648;19262564;19367720;19415658;19525939;19651622;20058876;20068231;23186163;2390065;24275569;24567387;24714562;25576301;26154972;26614875;26768311;26992070;27862975;28063628;28832583;29314611;29393594;29557506;29786170;29789417;30429286;31154438;31848261;32157095;32350084;32897882;33016107;33274565;33931585;33968037;34019948;34211107;35051231;35561310;35580925;36215666;36284347;37938771;38704467", "class_list": "", "function": "CAVIN2 is frequently silenced by CpG methylation and sensitizes lung cancer cells to paclitaxel and 5-FU., [RefSeq, PubMed]; LINC00261/microRNA-550a-3p/SDPR axis affects the biological characteristics of breast cancer stem cells., [RefSeq, PubMed]; Plays an important role in caveolar biogenesis and morphology. Regulates caveolae morphology by inducing membrane curvature within caveolae (PubMed:19525939). Plays a role in caveola formation in a tissue-specific manner. Required for the formation of caveolae in the lung and fat endothelia but not in the heart endothelia. Negatively regulates the size or stability of CAVIN complexes in the lung endothelial cells. May play a role in targeting PRKCA to caveolae (By similarity)., [UniProtKB, UniProtKB, PubMed]; SDPR expression in human trabecular meshwork and its potential role in racial disparities of glaucoma. Publication Status: Online-Only, [RefSeq, PubMed]; Serum deprivation-response protein induces apoptosis in hepatocellular carcinoma through ASK1-JNK/p38 MAPK pathways. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 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, "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": 27, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 9, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0005080 protein kinase C binding;GO:0001786 phosphatidylserine binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0005901 caveola", "go_biological_process": "GO:0097320 plasma membrane tubulation", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "O95810-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21554-1", "uniprot_id": [ { "id": "CNR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P21554", "type": "external" } ], "mass": 52858.0, "length": 472, "protein_name": "Cannabinoid receptor 1", "gene_name": "CNR1", "organism": "Human", "refseq_name": "cannabinoid receptor 1 isoform a", "refseq_ac": [ { "id": "NP_001153698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153698", "type": "external" } ], "gene_names_uniprotkb": "CNR1; CNR", "gene_names_refseq": "CANN6; CB-R; CB1A; CB1K5; CB1R; CB1; CNR1; CNR", "protein_names_uniprotkb": "Cannabinoid receptor 1; CANN6; CB-R; CB1", "protein_names_refseq": "cannabinoid receptor 1 (brain); cannabinoid receptor 1 isoform a; central cannabinoid receptor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); Parkinsonism (Disease Ontology:DOID:0080855); hypertension (Disease Ontology:DOID:10763); alcohol use disorder (Disease Ontology:DOID:1574); status epilepticus (Disease Ontology:DOID:1824); impotence (Disease Ontology:DOID:1875); focal epilepsy (Disease Ontology:DOID:2234); schizophrenia (Disease Ontology:DOID:5419); peptic ulcer disease (Disease Ontology:DOID:750); type 2 diabetes mellitus (Disease Ontology:DOID:9352); cannabis abuse (Disease Ontology:DOID:9505); diabetic neuropathy (Disease Ontology:DOID:9743); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1268); (R-HSA-373076); (R-HSA-418594)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10828533;11007482;11237011;12120503;12237474;12522134;12524422;12955148;14617636;15141213;15280385;15326175;15620723;15929991;15951850;16540462;1656963;16634148;16754668;16844083;16923326;17139494;1718258;17339491;17462861;17876302;17895407;18077343;18177726;18434541;18577758;18588883;19524019;21796212;21895628;2263478;23955712;2534964;2748346;27768894;27851727;28218747;28228285;2834384;29242379;29314611;29437277;30096288;31342135;31844290;31973708;32350084;32357974;32387766;32549916;33298915;33592498;33936100;34357683;35051231;35251023;35561310;35580925;35637350;36010968;38159053;38339011;38406790;39221983;7498464;7568007;7689702;7775459;7876112;7937899;7946354;8015379;8255419;8406495", "class_list": "", "function": "Association between CNR1 gene polymorphisms and susceptibility to diabetic nephropathy in Iraqi patients with T2DM., [RefSeq, PubMed]; Binds both 2-arachidonoylglycerol (2-AG) and anandamide., [UniProtKB, PubMed]; CB1 Promotes Osteogenic Differentiation Potential of Periodontal Ligament Stem Cells by Enhancing Mitochondrial Transfer of Bone Marrow Mesenchymal Stem Cells., [RefSeq, PubMed]; Deciphering the Molecular Association of Human CRIP1a with an Agonist-Bound Cannabinoid Receptor 1., [RefSeq, PubMed]; G protein-coupled receptor for endogenous cannabinoids (eCBs), including N-arachidonoylethanolamide (also called anandamide or AEA) and 2-arachidonoylglycerol (2-AG), as well as phytocannabinoids, such as delta(9)-tetrahydrocannabinol (THC) (PubMed:15620723, PubMed:27768894, PubMed:27851727, PubMed:35637350). Mediates many cannabinoid-induced effects, acting, among others, on food intake, memory loss, gastrointestinal motility, catalepsy, ambulatory activity, anxiety, chronic pain. Signaling typically involves reduction in cyclic AMP (PubMed:1718258, PubMed:21895628, PubMed:27768894). In the hypothalamus, may have a dual effect on mitochondrial respiration depending upon the agonist dose and possibly upon the cell type. Increases respiration at low doses, while decreases respiration at high doses. At high doses, CNR1 signal transduction involves G protein alpha-i protein activation and subsequent inhibition of mitochondrial soluble adenylate cyclase, decrease in cyclic AMP concentration, inhibition of protein kinase A (PKA)-dependent phosphorylation of specific subunits of the mitochondrial electron transport system, including NDUFS2. In the hypothalamus, inhibits leptin-induced reactive oxygen species (ROS) formation and mediates cannabinoid-induced increase in SREBF1 and FASN gene expression. In response to cannabinoids, drives the release of orexigenic beta-endorphin, but not that of melanocyte-stimulating hormone alpha/alpha-MSH, from hypothalamic POMC neurons, hence promoting food intake. In the hippocampus, regulates cellular respiration and energy production in response to cannabinoids. Involved in cannabinoid-dependent depolarization-induced suppression of inhibition (DSI), a process in which depolarization of CA1 postsynaptic pyramidal neurons mobilizes eCBs, which retrogradely activate presynaptic CB1 receptors, transiently decreasing GABAergic inhibitory neurotransmission. Also reduces excitatory synaptic transmission (By similarity). In superior cervical ganglions and cerebral vascular smooth muscle cells, inhibits voltage-gated Ca(2+) channels in a constitutive, as well as agonist-dependent manner (PubMed:17895407). In cerebral vascular smooth muscle cells, cannabinoid-induced inhibition of voltage-gated Ca(2+) channels leads to vasodilation and decreased vascular tone (By similarity). Induces leptin production in adipocytes and reduces LRP2-mediated leptin clearance in the kidney, hence participating in hyperleptinemia. In adipose tissue, CNR1 signaling leads to increased expression of SREBF1, ACACA and FASN genes (By similarity). In the liver, activation by endocannabinoids leads to increased de novo lipogenesis and reduced fatty acid catabolism, associated with increased expression of SREBF1/SREBP-1, GCK, ACACA, ACACB and FASN genes. May also affect de novo cholesterol synthesis and HDL-cholesteryl ether uptake. Peripherally modulates energy metabolism (By similarity). In high carbohydrate diet-induced obesity, may decrease the expression of mitochondrial dihydrolipoyl dehydrogenase/DLD in striated muscles, as well as that of selected glucose/ pyruvate metabolic enzymes, hence affecting energy expenditure through mitochondrial metabolism (By similarity). In response to cannabinoid anandamide, elicits a pro-inflammatory response in macrophages, which involves NLRP3 inflammasome activation and IL1B and IL18 secretion (By similarity). In macrophages infiltrating pancreatic islets, this process may participate in the progression of type-2 diabetes and associated loss of pancreatic beta-cells (PubMed:23955712)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Identification of a splice variant of the human CB1 receptor., [RefSeq, PubMed]; Joint CB1 and NGF Receptor Activation Suppresses TRPM8 Activation in Etoposide-Resistant Retinoblastoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Only binds 2-arachidonoylglycerol (2-AG) with high affinity. Contrary to its effect on isoform 1, 2-AG behaves as an inverse agonist on isoform 2 in assays measuring GTP binding to membranes., [UniProtKB, PubMed]; This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009]., [RefSeq]", "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": 4, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 15, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R9T4;E1P512;Q13949;Q495Z0;Q4PLI4;Q4VBM6;Q5JVL5;Q5UB37;Q9UNN0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0042802 identical protein binding;GO:0004949 cannabinoid receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005886 plasma membrane", "go_biological_process": "GO:0098921 retrograde trans-synaptic signaling by endocannabinoid;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway;GO:0099509 regulation of presynaptic cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P21554-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76011-1", "uniprot_id": [ { "id": "KRT34_HUMAN", "url": "https://www.uniprot.org/uniprot/O76011", "type": "external" } ], "mass": 44720.0, "length": 394, "protein_name": "Keratin, type I cuticular Ha4", "gene_name": "KRT34", "organism": "Human", "refseq_name": "keratin, type I cuticular Ha4", "refseq_ac": [ { "id": "NP_001372943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001372943", "type": "external" } ], "gene_names_uniprotkb": "KRT34; HHA4; HKA4; KRTHA4", "gene_names_refseq": "HA4; Ha-4; K34; KRT34; KRTHA4; hHa4", "protein_names_uniprotkb": "Keratin, type I cuticular Ha4; Hair keratin, type I Ha4; K34; Keratin-34", "protein_names_refseq": "hair keratin, type I Ha4; hard keratin, type I, 4; keratin 34, type I; keratin, hair, acidic, 4; keratin, type I cuticular Ha4", "tax_id": 9606, "disease": "", "pathway": " (hsa:100653049); (hsa:3885); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 4, "publication_count": 54, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16286979;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;28384107;28508828;31835165;32161166;38665916;7543090;8824274;8999895;9395522;9468612;9565599;9756910", "class_list": "", "function": "95 of the prostate carcinoma biopsies demonstrated lack of cytokeratin 34betaE12 expression and only 3 cases showed weak patchy staining., [RefSeq, PubMed]; As an adjunct to biopsy, AMACR and HMWCK have value for resolving diagnostically challenging cases, [RefSeq, PubMed]; Overexpressed in recurrent superficial urothelial carcinoma., [RefSeq, PubMed]; The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]., [RefSeq]; Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "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": "Q8IUT8;Q8N4W2", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0045095 keratin filament;GO:0005882 intermediate filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0008544 epidermis development;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O76011-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYL2-1", "uniprot_id": [ { "id": "M3K20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYL2", "type": "external" } ], "mass": 91155.0, "length": 800, "protein_name": "Mitogen-activated protein kinase kinase kinase 20", "gene_name": "MAP3K20", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 20 isoform 1", "refseq_ac": [ { "id": "NP_057737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057737", "type": "external" } ], "gene_names_uniprotkb": "MAP3K20; HCCS4; MLK7; MLTK; ZAK", "gene_names_refseq": "AZK; CNM6; MAP3K20; MLK7; MLTKalpha; MLTKbeta; MLTK; MLT; MRK; SFMMP; ZAK; mlklak; pk", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 20; 2.7.11.25; HCCS-4; Human cervical cancer suppressor gene 4 protein; Leucine zipper- and sterile alpha motif-containing kinase; MLK-like mitogen-activated protein triple kinase; MLK-related kinase; MRK; Mitogen-activated protein kinase kinase kinase MLT; Mixed lineage kinase 7; Mixed lineage kinase-related kinase; Sterile alpha motif- and leucine zipper-containing kinase AZK", "protein_names_refseq": "HCCS-4; MLK-like mitogen-activated protein triple kinase; ZAK1 homolog, leucine zipper and sterile-alpha motif kinase; human cervical cancer suppressor gene 4 protein; mitogen-activated protein kinase kinase kinase 20 isoform 1; mitogen-activated protein kinase kinase kinase MLT; mixed lineage kinase 7; mixed lineage kinase with a leucine zipper and a sterile alpha motif; mixed lineage kinase-related kinase MRK-beta; sterile alpha motif and leucine zipper containing kinase AZK", "tax_id": 9606, "disease": "split hand-foot malformation (Disease Ontology:DOID:0090020); centronuclear myopathy 6 with fiber-type disproportion (Disease Ontology:DOID:0111221); split-foot malformation-mesoaxial polydactyly syndrome (MONDO:MONDO:0014816)", "pathway": " (hsa:51776)", "pathway_count": 1, "publication_count": 90, "publication_id_list": "10924358;11042189;11237011;11549352;11836244;12220515;12535642;12761180;14521931;15172994;15342622;15350844;15684425;15737997;16964243;17192257;17322306;17344846;18331592;18669648;18691976;18767875;19369195;19413330;19651622;19690332;20068231;20559024;21224381;22223895;23186163;24275569;25576301;25892735;26755636;26992070;26999302;27600516;27816943;27846572;27859413;27920218;28218747;28586211;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30237576;30315122;30429286;30779550;31244114;31530632;31844290;31848261;32157095;32161166;32266845;32289254;32357974;32387766;32610081;32897882;32938616;32983136;33392160;33592498;33968037;33981976;34171305;34185709;34509645;35051231;35251023;35276386;35561310;35580925;35857590;36284347;36581221;37427997;38451290;38665916", "class_list": "", "function": "Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies., [RefSeq, PubMed]; Isoform that lacks the C-terminal region that mediates ribosome-binding: does not act as a sensor of ribosome collisions in response to ribotoxic stress (PubMed:32289254, PubMed:32610081, PubMed:35857590). May act as an antagonist of isoform ZAKalpha: interacts with isoform ZAKalpha, leading to decrease the expression of isoform ZAKalpha (PubMed:27859413)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Key component of the stress-activated protein kinase signaling cascade in response to ribotoxic stress or UV-B irradiation (PubMed:32289254, PubMed:32610081, PubMed:35857590). Acts as the proximal sensor of ribosome collisions during the ribotoxic stress response (RSR): directly binds to the ribosome by inserting its flexible C-terminus into the ribosomal intersubunit space, thereby acting as a sentinel for colliding ribosomes (PubMed:32289254, PubMed:32610081). Upon ribosome collisions, activates either the stress-activated protein kinase signal transduction cascade or the integrated stress response (ISR), leading to programmed cell death or cell survival, respectively (PubMed:32610081). Dangerous levels of ribosome collisions trigger the autophosphorylation and activation of MAP3K20, which dissociates from colliding ribosomes and phosphorylates MAP kinase kinases, leading to activation of the JNK and MAP kinase p38 pathways that promote programmed cell death (PubMed:32289254, PubMed:32610081). Less dangerous levels of ribosome collisions trigger the integrated stress response (ISR): MAP3K20 activates EIF2AK4/GCN2 independently of its protein-kinase activity, promoting EIF2AK4/GCN2-mediated phosphorylation of EIF2S1/eIF-2-alpha (PubMed:32610081). Also part of the stress-activated protein kinase signaling cascade triggering the NLRP1 inflammasome in response to UV-B irradiation: ribosome collisions activate MAP3K20, which directly phosphorylates NLRP1, leading to activation of the NLRP1 inflammasome and subsequent pyroptosis (PubMed:35857590). NLRP1 is also phosphorylated by MAP kinase p38 downstream of MAP3K20 (PubMed:35857590). Also acts as a histone kinase by phosphorylating histone H3 at 'Ser-28' (H3S28ph) (PubMed:15684425)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Myofibrillar myopathy hallmarks associated with ZAK deficiency. Erratum:[Hum Mol Genet. 2023 Dec 1;32(24):3390. doi: 10.1093/hmg/ddad168. PMID: 37788121], [RefSeq, PubMed]; Stress-activated component of a protein kinase signal transduction cascade that promotes programmed cell death in response to various stress, such as ribosomal stress, osmotic shock and ionizing radiation (PubMed:10924358, PubMed:11836244, PubMed:12220515, PubMed:14521931, PubMed:15350844, PubMed:15737997, PubMed:18331592, PubMed:20559024, PubMed:26999302, PubMed:32289254, PubMed:32610081, PubMed:35857590). Acts by catalyzing phosphorylation of MAP kinase kinases, leading to activation of the JNK (MAPK8/JNK1, MAPK9/JNK2 and/or MAPK10/JNK3) and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways (PubMed:11042189, PubMed:11836244, PubMed:12220515, PubMed:14521931, PubMed:15172994, PubMed:15737997, PubMed:32289254, PubMed:32610081, PubMed:35857590). Activates JNK through phosphorylation of MAP2K4/MKK4 and MAP2K7/MKK7, and MAP kinase p38 gamma (MAPK12) via phosphorylation of MAP2K3/MKK3 and MAP2K6/MKK6 (PubMed:11836244, PubMed:12220515). Involved in stress associated with adrenergic stimulation: contributes to cardiac decompensation during periods of acute cardiac stress (PubMed:15350844, PubMed:21224381, PubMed:27859413). May be involved in regulation of S and G2 cell cycle checkpoint by mediating phosphorylation of CHEK2 (PubMed:15342622)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Targeted inhibition of ZAK ameliorates renal interstitial fibrosis., [RefSeq, PubMed]; This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; ZAKalpha-driven ribotoxic stress response activates the human NLRP1 inflammasome., [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": 58, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPG2;Q53SX1;Q580W8;Q59GY5;Q86YW8;Q9HCC4;Q9HCC5;Q9HDD2;Q9NYE9", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": 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(R-HSA-68616); (R-HSA-73728); (R-HSA-73772); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-9018519); (R-HSA-912446); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9616222); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-977225); (R-HSA-9821002); (R-HSA-983231); (R-HSA-9841922); (R-HSA-9843940); (R-HSA-9843970); (R-HSA-9845323); (R-HSA-9909649); (R-HSA-9918481); (R-HSA-9937850); (R-HSA-9940465); (R-HSA-9940951); (R-HSA-9943411); (R-HSA-9943962); (R-HSA-9970672)", "pathway_count": 58, "publication_count": 1135, "publication_id_list": 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"class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]., [RefSeq]; Macrophage MCT4 inhibition activates reparative genes and protects from atherosclerosis by histone H3 lysine 18 lactylation. Erratum:[Cell Rep. 2024 Oct 22;43(10):114884. doi: 10.1016/j.celrep.2024.114884. PMID: 39392757], [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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 34, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 208, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic; monitoring", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0PJT7;A5PLR1;P02295;P02296;P16106;Q6ISV8;Q6NWP8;Q6NWP9;Q6NXU4;Q71DJ3;Q93081", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0045296 cadherin binding;GO:0031492 nucleosomal DNA binding;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0032200 telomere organization;GO:0006325 chromatin organization;GO:0006334 nucleosome assembly;GO:0040029 epigenetic regulation of gene expression;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 114.1, "record_id": "P68431-1", "record_type": "protein", "filter_code": "0101000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60269-1", "uniprot_id": [ { "id": "GRIN2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60269", "type": "external" } ], "mass": 47450.0, "length": 458, "protein_name": "G protein-regulated inducer of neurite outgrowth 2", "gene_name": "GPRIN2", "organism": "Human", "refseq_name": "G protein-regulated inducer of neurite outgrowth 2 isoform 1", "refseq_ac": [ { "id": "NP_055511", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055511", "type": "external" } ], "gene_names_uniprotkb": "GPRIN2; KIAA0514", "gene_names_refseq": "GPRIN2; GRIN2; KIAA0514", "protein_names_uniprotkb": "G protein-regulated inducer of neurite outgrowth 2; GRIN2", "protein_names_refseq": "G protein-regulated inducer of neurite outgrowth 2 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9721)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10480904;23481700;25576301;27862975;28832583;29405996;31154438;35051231", "class_list": "", "function": "Four of these 16 variants were rare damaging mutations including novel mutations in KCNJ12/KCNJ18, and GPRIN2 genes. This WES study in Iranian patients with ESCC, provides insight into the identification of novel germline mutations in familial ESCC. Our data suggest an association between specific mutations and increased risk of ESCC, [RefSeq, PubMed]; May be involved in neurite outgrowth., [UniProtKB, 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": 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": 11, "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": "Q5SVF0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0031175 neuron projection development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "O60269-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TCQ9-4", "uniprot_id": [ { "id": "MAGI3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TCQ9", "type": "external" } ], "mass": 162949.0, "length": 1481, "protein_name": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3", "gene_name": "MAGI3", "organism": "Human", "refseq_name": "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001136254", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136254", "type": "external" } ], "gene_names_uniprotkb": "MAGI3; KIAA1634", "gene_names_refseq": "MAGI-3; MAGI3; dJ730K3.2", "protein_names_uniprotkb": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3; MAGI-3; Membrane-associated guanylate kinase inverted 3", "protein_names_refseq": "membrane-associated guanylate kinase inverted 3; membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform 1; membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3; membrane-associated guanylate kinase-related 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:260425)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10748157;11969287;12140759;12615970;15003862;15378012;15507623;15652357;16904289;17055267;17934525;23186163;23873930;28834231;29242379;29362392;29393594;29557506;30429286;31217245;31844290;32080912;32157095;32387766;33298915;33592498;34357683;34510826;35051231;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "Acts as a scaffolding protein at cell-cell junctions, thereby regulating various cellular and signaling processes. Cooperates with PTEN to modulate the kinase activity of AKT1. Its interaction with PTPRB and tyrosine phosphorylated proteins suggests that it may link receptor tyrosine phosphatase with its substrates at the plasma membrane. In polarized epithelial cells, involved in efficient trafficking of TGFA to the cell surface. Regulates the ability of LPAR2 to activate ERK and RhoA pathways. Regulates the JNK signaling cascade via its interaction with FZD4 and VANGL2., [UniProtKB, PubMed]; In epithelial cells, MAGI-3 was localized with ZO-1 and cingulin at tight junctions, whereas in primary cultured astrocytes it was found in E-cadherin-based cell-cell contacts and in focal adhesion sites., [RefSeq, PubMed]; Integrated analyses identify miR-34c-3p/MAGI3 axis for the Warburg metabolism in hepatocellular carcinoma., [RefSeq, PubMed]; Oncogenic human papillomavirus E6 proteins target the MAGI-2 and MAGI-3 proteins for degradation [MAGI-2, MAGI-3], [RefSeq, PubMed]; Reduced MAGI3 level by HPV18E6 contributes to Wnt/beta-catenin signaling activation and cervical cancer progression., [RefSeq, PubMed]; Study shows that MAGI3 undergoes premature polyadenylation (pPA) at the intron immediately downstream of its large internal exon, which is normally highly modified by N(6)-methyladenosine (m(6)A). In breast cancer cells that upregulate MAGI3 (pPA) , m(6)A levels in the large internal exon of MAGI3 are significantly reduced compared to cells that do not express MAGI3 (pPA). MAGI3 (pPA) transcripts are depleted of m(6)A. 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, "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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "A0A024R0E9;A0A024R0H3;Q5TCQ8;Q5TCR0;Q9H2V6;Q9H5Y8;Q9HBC4;Q9HCD8", "ec_number_list": [], "go_molecular_function": "GO:0004385 GMP kinase activity;GO:0005109 frizzled binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q5TCQ9-4", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2K2-1", "uniprot_id": [ { "id": "TNKS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2K2", "type": "external" } ], "mass": 126918.0, "length": 1166, "protein_name": "Poly [ADP-ribose] polymerase tankyrase-2", "gene_name": "TNKS2", "organism": "Human", "refseq_name": "poly [ADP-ribose] polymerase tankyrase-2", "refseq_ac": [ { "id": "NP_079511", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079511", "type": "external" } ], "gene_names_uniprotkb": "TNKS2; PARP5B; TANK2; TNKL", "gene_names_refseq": "ARTD6; PARP-5b; PARP-5c; PARP5B; PARP5C; TANK2; TNKL; TNKS2; pART6", "protein_names_uniprotkb": "Poly [ADP-ribose] polymerase tankyrase-2; 2.4.2.-; 2.4.2.30; ADP-ribosyltransferase diphtheria toxin-like 6; ARTD6; Poly [ADP-ribose] polymerase 5B; Protein poly-ADP-ribosyltransferase tankyrase-2; TANK2; TNKS-2; TRF1-interacting ankyrin-related ADP-ribose polymerase 2; Tankyrase II; Tankyrase-2; Tankyrase-like protein; Tankyrase-related protein", "protein_names_refseq": "ADP-ribosyltransferase diphtheria toxin-like 6; TNKS-2; TRF1-interacting ankyrin-related ADP-ribose polymerase 2; poly [ADP-ribose] polymerase 5B; poly [ADP-ribose] polymerase tankyrase-2; protein poly-ADP-ribosyltransferase tankyrase-2; tankyrase II; tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2; tankyrase-like protein; tankyrase-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:80351); (R-HSA-201681); (R-HSA-4641257); (R-HSA-5545619); (R-HSA-5689880); (R-HSA-8948751)", "pathway_count": 6, "publication_count": 198, "publication_id_list": "10198061;10444327;10982817;11029007;11035045;11205898;11237011;11278563;11294570;11357136;11448771;11454873;11493532;11566882;11739745;11802774;11923872;12080061;12205098;12223464;12297295;12917689;12917691;14636582;14661020;14981260;15053880;15084453;15208637;15454084;15459103;15916963;16116452;16214042;16280981;16554443;16723543;16884355;16901786;16964248;16971168;17218260;17234765;17290220;17443180;17873522;17980597;17981138;18077588;18172164;18423204;18467330;18632802;18636086;18936059;19000841;19015242;19125156;19135894;19188362;19345329;19363159;19398555;19424180;19473982;19619488;19651622;19729658;19759537;19838211;19874889;19910467;20004982;20096447;20106667;20112406;20228808;20368735;20501646;20858899;21239494;21251231;21362556;21383061;21478859;21532586;21571647;21596315;21659512;21799911;21849505;21875946;21962518;22000856;22014570;22029577;22085928;22128162;22216260;22411803;22427670;22440753;22653731;22773843;23144924;23159851;23256519;23395819;23419514;23481700;23486064;23622245;23791946;23824326;23825189;24056413;24260525;24270891;24367090;24493797;24714562;24715725;24896179;25043379;25197364;25305019;25547115;25576301;25578727;25892735;26154972;26183061;26280536;26758079;26768311;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30524438;31217245;31844290;32157095;32265295;32387766;32488085;32897882;32938616;32983136;33123756;33141586;33298915;33361107;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34861798;34932366;35051231;35318648;35561310;35580925;35733260;36010968;36284347;37217939;37938771;7578059;9135132;9391096;9501980", "class_list": "", "function": "Down-regulation of hsa_circ_0045474 induces macrophage autophagy in tuberculosis via miR-582-5p/TNKS2 axis., [RefSeq, PubMed]; Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking (PubMed:11739745, PubMed:11802774, PubMed:19759537, PubMed:21478859, PubMed:23622245, PubMed:25043379). Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation (PubMed:19759537, PubMed:21478859). Also mediates poly-ADP-ribosylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination (PubMed:21478859). Mediates poly-ADP-ribosylation of TERF1, thereby contributing to the regulation of telomere length (PubMed:11739745). Stimulates 26S proteasome activity (PubMed:23622245)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Tankyrases inhibit innate antiviral response by PARylating VISA/MAVS and priming it for RNF146-mediated ubiquitination and degradation., [RefSeq, 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, "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": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 25, "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": "B2RBD3;Q9H8F2;Q9HAS4", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "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": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0019899 enzyme binding;GO:0046872 metal ion binding;GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0070213 protein auto-ADP-ribosylation;GO:0032212 positive regulation of telomere maintenance via telomerase;GO:0070198 protein localization to chromosome, telomeric region;GO:0016055 Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "Q9H2K2-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Y82-1", "uniprot_id": [ { "id": "STX12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Y82", "type": "external" } ], "mass": 31642.0, "length": 276, "protein_name": "Syntaxin-12", "gene_name": "STX12", "organism": "Human", "refseq_name": "syntaxin-12", "refseq_ac": [ { "id": "NP_803173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_803173", "type": "external" } ], "gene_names_uniprotkb": "STX12", "gene_names_refseq": "STX12; STX13; STX14", "protein_names_uniprotkb": "Syntaxin-12", "protein_names_refseq": "syntaxin-12", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); carcinoma (Disease Ontology:DOID:305)", "pathway": " (hsa:23673)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;16959974;17081983;18578522;18669648;18707149;19546860;19651622;20068231;20166139;22223895;23186163;25502872;26154972;27090790;27862975;28411811;28467828;28510447;28871256;29557506;30429286;30573663;30626607;31665227;31844290;31937595;32350084;32387766;32938616;32983136;33043033;33141586;33298915;33592498;33886957;33968037;34087483;34211107;34229054;34357683;34433824;34509645;34905616;35051231;35154160;35251023;36215666;37217939;37938771", "class_list": "", "function": "A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers., [RefSeq, PubMed]; SNARE promoting fusion of transport vesicles with target membranes. Together with SNARE STX6, promotes movement of vesicles from endosomes to the cell membrane, and may therefore function in the endocytic recycling pathway. Through complex formation with GRIP1, GRIA2 and NSG1 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting., [UniProtKB, UniProtKB]; Syntaxin 12 and COMMD3 are new factors that function with VPS33B in the biogenesis of platelet alpha-granules., [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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "B1AJQ7;O95564", "ec_number_list": [], "go_molecular_function": "GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0098837 postsynaptic recycling endosome;GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0045121 membrane raft;GO:0055037 recycling endosome", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0006886 intracellular protein transport;GO:0033344 cholesterol efflux;GO:0050821 protein stabilization;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q86Y82-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PV4-1", "uniprot_id": [ { "id": "PNMA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PV4", "type": "external" } ], "mass": 49934.0, "length": 448, "protein_name": "Paraneoplastic antigen-like protein 5", "gene_name": "PNMA5", "organism": "Human", "refseq_name": "paraneoplastic antigen-like protein 5", "refseq_ac": [ { "id": "NP_001096620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096620", "type": "external" } ], "gene_names_uniprotkb": "PNMA5; KIAA1934", "gene_names_refseq": "PNMA5", "protein_names_uniprotkb": "Paraneoplastic antigen-like protein 5; Tumor antigen BJ-HCC-25", "protein_names_refseq": "paraneoplastic Ma antigen family member 5; paraneoplastic antigen-like protein 5; tumor antigen BJ-HCC-25", "tax_id": 9606, "disease": "", "pathway": " (hsa:114824)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "19366867;27424190;29331515;29485866;29786170;30379171;31429579;32157095;35051231;35580925", "class_list": "", "function": "PNMA5 promotes apoptosis signaling in HeLa and MCF-7 cells and interacts synergistically with MOAP-1 through its N-terminal domain to promote apoptosis and chemo-sensitivity in human cancer cells. The C-terminal domain of PNMA5 is required for nuclear localization; however, both N-and C-terminal domains of PNMA5 appear to be required for pro-apoptotic function., [RefSeq, PubMed]; This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011]., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "B4DI72;B7Z9Y9;Q495L5;Q8NET3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96PV4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14950-1", "uniprot_id": [ { "id": "ML12B_HUMAN", "url": "https://www.uniprot.org/uniprot/O14950", "type": "external" } ], "mass": 19779.0, "length": 172, "protein_name": "Myosin regulatory light chain 12B", "gene_name": "MYL12B", "organism": "Human", "refseq_name": "myosin regulatory light chain 12B", "refseq_ac": [ { "id": "NP_001138416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138416", "type": "external" } ], "gene_names_uniprotkb": "MYL12B; MRLC2; MYLC2B", "gene_names_refseq": "MLC-B; MRLC2; MYL12B", "protein_names_uniprotkb": "Myosin regulatory light chain 12B; MLC-2A; MLC-2; MLC20; Myosin regulatory light chain 2-B, smooth muscle isoform; Myosin regulatory light chain 20 kDa; Myosin regulatory light chain MRLC2; SHUJUN-1", "protein_names_refseq": "MLC-2A; MLC-2; MLC20; SHUJUN-1; myosin regulatory light chain 12B; myosin regulatory light chain 20 kDa; myosin regulatory light chain 2; myosin regulatory light chain MRLC2; myosin, light chain 12B, regulatory", "tax_id": 9606, "disease": "", "pathway": " (hsa:103910); (R-HSA-3928663); (R-HSA-416572); (R-HSA-445355); (R-HSA-5625740); (R-HSA-5625900); (R-HSA-5627117); (R-HSA-5627123)", "pathway_count": 8, "publication_count": 163, "publication_id_list": "10047984;10092231;10330186;10356987;10470034;10619026;10639334;10652353;10748018;10753910;10769020;10924361;10965042;10975528;10991994;11018042;11134534;11179879;11242081;11278486;11278951;11313932;11331307;11436981;11457814;11532985;1178183;11781833;11804587;11889009;11942626;12048254;12185584;12196628;12198493;12220504;12429016;12453877;12589046;12730235;12783890;12802051;14506282;14514689;14580336;14627618;15000491;15003508;15184667;15210733;15377279;15378014;156362;15791647;15848799;15946647;16202622;16204230;16219803;16431929;16854367;17055381;17126281;17151359;17287340;17301291;18006505;18025083;18212344;18452278;18480596;18829550;18835557;18974361;19289088;1930128;19380584;19513348;19723632;20444238;21098037;21351730;21749319;22293177;22421042;22778174;23161543;23444367;23481700;23555621;23716662;23834404;24128008;24166499;24715725;24859002;24872348;2526655;25576301;25645385;25880248;25892735;26362469;26375851;27600516;2764880;27679490;27846572;28228285;28741090;28832583;28855257;29242379;29393594;29493099;29508533;29557506;29632046;29632711;2966156;29786170;29789417;30315122;3079756;31844290;32350084;32357974;32387766;32488085;33123756;33968037;34078123;34185709;35008409;35051231;35580925;36215666;36284347;36581221;37217939;3780718;37938771;3839510;38665916;7559638;8107774;8543060;8662509;8702756;8858389;9278512;9354661;9481611;9535855;9598563;9600334;9683637;9792683;9855623;9870942;9870943;9889122;9988689", "class_list": "", "function": "Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion., [UniProtKB, PubMed]; The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]., [RefSeq]; These results suggest that EGCG inhibits the cell growth by reducing the MRLC phosphorylation and this effect is mediated by the 67LR., [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": 12, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "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": "D3DUH6;Q13182;Q7Z5Z4", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0032036 myosin heavy chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005903 brush border;GO:0005938 cell cortex;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "O14950-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55072-1", "uniprot_id": [ { "id": "TERA_HUMAN", "url": "https://www.uniprot.org/uniprot/P55072", "type": "external" } ], "mass": 89322.0, "length": 806, "protein_name": "Transitional endoplasmic reticulum ATPase", "gene_name": "VCP", "organism": "Human", "refseq_name": "transitional endoplasmic reticulum ATPase isoform 1", "refseq_ac": [ { "id": "NP_009057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009057", "type": "external" } ], "gene_names_uniprotkb": "VCP; HEL-220; HEL-S-70", "gene_names_refseq": "CDC48; FTDALS6; TERA; VCP; p97", "protein_names_uniprotkb": "Transitional endoplasmic reticulum ATPase; 15S Mg(2+)-ATPase p97 subunit; 3.6.4.6; TER ATPase; VCP; Valosin-containing protein", "protein_names_refseq": "15S Mg(2+)-ATPase p97 subunit; TER ATPase; transitional endoplasmic reticulum ATPase isoform 1; transitional endoplasmic reticulum ATPase", "tax_id": 9606, "disease": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Disease Ontology:DOID:0050881); frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (Disease Ontology:DOID:0060205); Charcot-Marie-Tooth disease type 2Y (Disease Ontology:DOID:0110168); inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 (Disease Ontology:DOID:0111385); neurodegenerative disease (Disease Ontology:DOID:1289); dementia (Disease Ontology:DOID:1307); inclusion body myositis (Disease Ontology:DOID:3429); Paget's disease of bone (Disease Ontology:DOID:5408); primary ovarian insufficiency (Disease Ontology:DOID:5426); frontotemporal dementia (Disease Ontology:DOID:9255)", "pathway": " (hsa:7415); (R-HSA-110320); (R-HSA-3371511); (R-HSA-382556); (R-HSA-532668); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5678895); (R-HSA-5689877); (R-HSA-5689896); (R-HSA-6798695); (R-HSA-8866654); (R-HSA-8876725); (R-HSA-8951664); (R-HSA-9013407); (R-HSA-9646399); (R-HSA-9678110); (R-HSA-9694614); (R-HSA-9755511); (R-HSA-9918487); (R-HSA-9931269); (R-HSA-9954709)", "pathway_count": 22, "publication_count": 631, "publication_id_list": 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"class_list": "", "function": "A pathogenic mutation in the ALS/FTD gene VCP induces mitochondrial hypermetabolism by modulating the permeability transition pore. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that AAA+ (ATPases associated with diverse cellular activities) ATPase p97 is essential to wide range of cellular functions, including endoplasmic reticulum-associated degradation, membrane fusion, NFkappaB (nuclear factor kappa-light-chain-enhancer of activated B cells) activation, and chromatin-associated processes, which are regulated by ubiquitination. [REVIEW] Review article Publication Status: Online-Only, [RefSeq, PubMed]; Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm transition vesicles which derive from part-rough, part-smooth transitional elements of the endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. Regulates E3 ubiquitin-protein ligase activity of RNF19A. Component of the VCP/p97-AMFR/gp78 complex that participates in the final step of the sterol-mediated ubiquitination and endoplasmic reticulum-associated degradation (ERAD) of HMGCR. Mediates the endoplasmic reticulum-associated degradation of CHRNA3 in cortical neurons as part of the STUB1-VCP-UBXN2A complex (PubMed:26265139). Involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908). Involved in clearance process by mediating G3BP1 extraction from stress granules (PubMed:29804830, PubMed:34739333). Also involved in DNA damage response: recruited to double-strand breaks (DSBs) sites in a RNF8- and RNF168-dependent manner and promotes the recruitment of TP53BP1 at DNA damage sites (PubMed:22020440, PubMed:22120668). Recruited to stalled replication forks by SPRTN: may act by mediating extraction of DNA polymerase eta (POLH) to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage (PubMed:23042605, PubMed:23042607). Together with SPRTN metalloprotease, involved in the repair of covalent DNA-protein cross-links (DPCs) during DNA synthesis (PubMed:32152270). Involved in interstrand cross-link repair in response to replication stress by mediating unloading of the ubiquitinated CMG helicase complex (By similarity). Mediates extraction of PARP1 trapped to chromatin: recognizes and binds ubiquitinated PARP1 and promotes its removal (PubMed:35013556). Required for cytoplasmic retrotranslocation of stressed/damaged mitochondrial outer-membrane proteins and their subsequent proteasomal degradation (PubMed:16186510, PubMed:21118995). Essential for the maturation of ubiquitin-containing autophagosomes and the clearance of ubiquitinated protein by autophagy (PubMed:20104022, PubMed:27753622, PubMed:38762759). Acts as a negative regulator of type I interferon production by interacting with RIGI: interaction takes place when RIGI is ubiquitinated via 'Lys-63'-linked ubiquitin on its CARD domains, leading to recruit RNF125 and promote ubiquitination and degradation of RIGI (PubMed:26471729). May play a role in the ubiquitin-dependent sorting of membrane proteins to lysosomes where they undergo degradation (PubMed:21822278). May more particularly play a role in caveolins sorting in cells (PubMed:21822278, PubMed:23335559). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug 2017]., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, 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"https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.5.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.52", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.5.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.124", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0036435 K48-linked polyubiquitin modification-dependent protein binding;GO:0140036 ubiquitin-modified protein reader activity;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0019904 protein domain specific binding", "go_cellular_component": "GO:1990730 VCP-NSFL1C complex;GO:0098978 glutamatergic synapse;GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex;GO:0005576 extracellular region;GO:0005634 nucleus", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0097352 autophagosome maturation;GO:2001171 positive regulation of ATP biosynthetic process;GO:1903006 positive regulation of protein K63-linked deubiquitination;GO:0043335 protein unfolding", "synthesized_glycan_count": 0, "hit_score": 63.6, "record_id": "P55072-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVV9-1", "uniprot_id": [ { "id": "THAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVV9", "type": "external" } ], "mass": 24944.0, "length": 213, "protein_name": "THAP domain-containing protein 1", "gene_name": "THAP1", "organism": "Human", "refseq_name": "THAP domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_060575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060575", "type": "external" } ], "gene_names_uniprotkb": "THAP1", "gene_names_refseq": "DYT6; THAP1", "protein_names_uniprotkb": "THAP domain-containing protein 1", "protein_names_refseq": "4833431A01Rik; THAP domain containing, apoptosis associated protein 1; THAP domain protein 1; THAP domain-containing protein 1 isoform 1; THAP domain-containing protein 1; nuclear proapoptotic factor", "tax_id": 9606, "disease": "torsion dystonia 6 (Disease Ontology:DOID:0090039)", "pathway": " (hsa:55145)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;12717420;15111678;15863623;17003378;18073205;19182804;19345147;19908320;19908325;20010837;20083799;20144952;20200153;20211909;20629133;20669277;20687191;20825472;21110056;21425335;21425341;21793105;21800139;21839475;21847143;22377579;25385508;27600516;28299530;28832583;29242379;29393594;29557506;30429286;31092671;31844290;31998317;32161166;32350084;32938616;33537174;33547842;33981976;34171305;34672987;34686877;35015830", "class_list": "", "function": "A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding., [RefSeq, PubMed]; DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptotic activity by potentiating both serum-withdrawal and TNF-induced apoptosis., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family., [RefSeq, PubMed]; Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin., [RefSeq, PubMed]; FDG PET was used to scan [brain glucose metabolism] in 12 nonmanifesting and 11 manifesting DYT1 gene carriers, 6 nonmanifesting DYT6 gene carriers and 7 manifesting DYT6 gene carriers, [RefSeq, PubMed]; Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model., [RefSeq, PubMed]; The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [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, "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": 42, "reported_glycation": 0, "reported_snv": 1, "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": "A6NCB6;D3DSY5;H9KV49;Q53FQ1;Q6IA99", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016605 PML body;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:0006355 regulation of DNA-templated transcription;GO:0007346 regulation of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9NVV9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WW24-1", "uniprot_id": [ { "id": "TEKT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WW24", "type": "external" } ], "mass": 50649.0, "length": 435, "protein_name": "Tektin-4", "gene_name": "TEKT4", "organism": "Human", "refseq_name": "tektin-4 isoform 1", "refseq_ac": [ { "id": "NP_653306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653306", "type": "external" } ], "gene_names_uniprotkb": "TEKT4", "gene_names_refseq": "TEKT4", "protein_names_uniprotkb": "Tektin-4", "protein_names_refseq": "epididymis secretory sperm binding protein; tektin-4 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:150483)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "16959974;17244819;22424782;22645359;22774605;23481700;24823476;25880248;26811146;28063628;28832583;28855257;28904123;29242379;29393594;29557506;29632046;30315122;30620550;31217245;31844290;32357974;33298915;33654196;34561969;36191189;39894887", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme (PubMed:36191189). Forms filamentous polymers in the walls of ciliary and flagellar microtubules (By similarity). Contributes to normal sperm motility (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; TEKT4 germline variations in a high cis linkage are biologically relevant, as ectopic expression of variant TEKT4 deregulates microtubule stability, antagonizes paclitaxel-induced stabilizing effect of microtubules and increases paclitaxel resistance. Publication Status: Online-Only, [RefSeq, PubMed]; Tektin4 loss promotes triple-negative breast cancer metastasis through HDAC6-mediated tubulin deacetylation and increases sensitivity to HDAC6 inhibitor., [RefSeq, PubMed]; The expression of TEKT4 is significantly decreased in the ejaculated sperm of idiopathic asthenozoospermia patients., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005634 nucleus;GO:0015630 microtubule cytoskeleton;GO:0036126 sperm flagellum;GO:0097228 sperm principal piece", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8WW24-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13077-1", "uniprot_id": [ { "id": "TRAF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13077", "type": "external" } ], "mass": 46164.0, "length": 416, "protein_name": "TNF receptor-associated factor 1", "gene_name": "TRAF1", "organism": "Human", "refseq_name": "TNF receptor-associated factor 1 isoform a", "refseq_ac": [ { "id": "NP_001177874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177874", "type": "external" } ], "gene_names_uniprotkb": "TRAF1; EBI6", "gene_names_refseq": "EBI6; MGC:10353; TRAF1", "protein_names_uniprotkb": "TNF receptor-associated factor 1; Epstein-Barr virus-induced protein 6", "protein_names_refseq": "Epstein-Bar virus-induced protein 6; TNF receptor-associated factor 1 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:7185); (R-HSA-5357905); (R-HSA-5357956)", "pathway_count": 3, "publication_count": 169, "publication_id_list": "10037686;10521396;10692572;10809768;10837247;10903733;11035039;11098060;11181075;11313261;11427719;11577081;11907583;12167698;12709429;14716293;15024054;15258597;15383523;15468071;15870263;16260783;16282325;16323247;16603398;16682944;16829951;16829952;16953224;17314102;17702576;18178551;18429822;18446792;18987736;18991276;19278658;19287455;19289468;19416807;19698991;19910467;19937093;20005846;20058876;20185725;20219915;20304918;20385093;20447407;21235526;21408173;22179575;22297296;22299025;22435550;22848449;23313255;23328677;23481700;23746843;23783831;24098568;24246475;24323043;24714562;24726323;24726327;25502872;25565632;25996949;26154972;26344099;26375851;26728094;26900751;26997266;27090790;27151821;27307491;27397612;27452731;27458237;27545878;27552911;27591049;27600516;27846572;27920218;28218747;28228285;28467828;28506461;28832583;28860189;28904123;28920952;28920954;29242379;29317506;29393594;29437277;29493099;29508533;29557506;29632711;29642005;29786170;30146158;30315122;30361438;30410026;30420664;30429286;30573663;30988283;31092671;31217245;31366726;31511692;31530632;31844290;31848261;31998317;32157095;32320653;32350084;32488085;32502341;32938616;32983136;33141586;33298915;33469115;33691108;33717175;33912179;33936100;33968037;34162724;34357683;34363755;34433824;34876703;34932366;35051231;35154160;35580925;35941131;36284347;36581221;38117213;38583598;38995016;40097387;7531702;7667287;7859281;8069916;8627180;8710854;9049422;9065443;9418902;9607925;9642260;9705938;9718306;9774460", "class_list": "", "function": "(Microbial infection) Amplifies LMP1-mediated MAP kinase and canonical NF-kappa-B pathway but not non-canonical NF-kappa-B pathway activity., [UniProtKB, PubMed]; Adapter molecule that is involved in multiple signaling pathways including the NF-kappa-B and MAPK pathways and thus influences inflammatory and apoptotic responses. Plays a critical role in regulating T-cell activation both through restricting the costimulation-independent activation of NIK in activated T-cells and by promoting the TNFRSF9-induced classical NF-kappa-B pathway (By similarity). Forms a heterotrimer with TRAF2 as part of an E3 ubiquitin-protein ligase complex that mediates ubiquitination of target proteins such as MAP3K14 and gasdermin D/GSDMD (PubMed:40097387). This complex also recruits the antiapoptotic E3 ligases BIRC2 and BIRC3 to TNFRSF1B/TNFR2 (PubMed:19287455). Acts downstream of MAVS within the RIG-I/MAVS antiviral pathway to enhance type I interferon signaling (PubMed:38995016). Regulates osteoclastogenesis by preventing ubiquitination and degradation of MLST8, thereby promoting PI3K-AKT signaling and enhancing oxidative phosphorylation in osteoclasts (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Association between TRAF1/C5 Gene Polymorphisms and IgA Vasculitis in Chinese Children., [RefSeq, PubMed]; Lower levels of TRAF1 in Brodmann's area 24, but not 46, in bipolar disorders are not detectable in major depressive disorders., [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF receptor (TNFR) associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from various receptors of the TNFR superfamily. This protein and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic signals from TNF receptors. The expression of this protein can be induced by Epstein-Barr virus (EBV). EBV infection membrane protein 1 (LMP1) is found to interact with this and other TRAF proteins; this interaction is thought to link LMP1-mediated B lymphocyte transformation to the signal transduction from TNFR family receptors. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]., [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": 4, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 1, "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": "B4DJ77;Q658U1;Q8NF13", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0031996 thioesterase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006915 apoptotic process;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:1901223 negative regulation of non-canonical NF-kappaB signal transduction;GO:2001236 regulation of extrinsic apoptotic signaling pathway;GO:0033209 tumor necrosis factor-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "Q13077-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1B4-1", "uniprot_id": [ { "id": "VPS52_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1B4", "type": "external" } ], "mass": 82221.0, "length": 723, "protein_name": "Vacuolar protein sorting-associated protein 52 homolog", "gene_name": "VPS52", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 52 homolog isoform 3", "refseq_ac": [ { "id": "NP_001276104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104", "type": "external" } ], "gene_names_uniprotkb": "VPS52; SACM2L", "gene_names_refseq": "ARE1; SAC2; SACM2L; VPS52; dJ1033B10.5", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 52 homolog; SAC2 suppressor of actin mutations 2-like protein", "protein_names_refseq": "SAC2 suppressor of actin mutations 2-like protein; VPS52, GARP complex subunit; vacuolar protein sorting 52 homolog; vacuolar protein sorting-associated protein 52 homolog isoform 3; vacuolar protein sorting-associated protein 52 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:6293); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 140, "publication_id_list": "10209123;10445031;10559959;10637310;10865125;10990452;11237011;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12210484;12366783;12377769;12620188;12620189;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15654769;15758030;15870108;15878329;16042553;16129887;16571679;16885419;16912714;16936697;17451557;17488291;17562788;17684057;17698061;18195106;18243103;18256213;18367545;18664496;18946081;19164740;19490898;19620288;20163565;20685960;21183348;21421921;21436057;21689688;21807881;22223895;22335553;22354037;22581368;22645359;22717455;23091056;23186163;23437303;23481700;24715725;24794632;25343031;25418920;25576301;25799061;25892735;26154972;26992070;27440922;27600516;27846572;27862975;27920218;28228285;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;31217245;31533953;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34561969;34932366;35051231;36010968;36241641;36284347;37217939;37938771;7909812;8221884;8440258;8620540;8636227;8670882;9050864;9177194;9230071;9590177", "class_list": "", "function": "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 the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545). 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, PubMed]; Golgi associated retrograde protein complex, consisting of the Vps52, Vps53, and Vps54 proteins, shows significant conservation between various species but diversification and specialization result in important differences in human cells., [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Sac2 operates upstream of granule docking, since loss of Sac2 prevented granule tethering to the plasma membrane and resulted in both reduced granule density and number of exocytic events., [RefSeq, PubMed]; This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 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": 1, "reported_mutagensis": 0, "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": "A2BF38;B0UZZ4;B4DNI9;Q53GR4;Q5JPA0;Q5SQW1;Q8IUN6;Q9NPT5", "ec_number_list": [], "go_molecular_function": "GO:0019905 syntaxin binding", "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:0042147 retrograde transport, endosome to Golgi;GO:0032456 endocytic recycling;GO:0007041 lysosomal transport", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q8N1B4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51959-1", "uniprot_id": [ { "id": "CCNG1_HUMAN", "url": "https://www.uniprot.org/uniprot/P51959", "type": "external" } ], "mass": 34074.0, "length": 295, "protein_name": "Cyclin-G1", "gene_name": "CCNG1", "organism": "Human", "refseq_name": "cyclin-G1 isoform a", "refseq_ac": [ { "id": "NP_004051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004051", "type": "external" } ], "gene_names_uniprotkb": "CCNG1; CCNG; CYCG1", "gene_names_refseq": "CCNG1; CCNG", "protein_names_uniprotkb": "Cyclin-G1; Cyclin-G", "protein_names_refseq": "cyclin-G1 isoform a; cyclin-G", "tax_id": 9606, "disease": "ovarian serous carcinoma (Disease Ontology:DOID:0050933); traumatic brain injury (Disease Ontology:DOID:0081292); Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); sarcoma (Disease Ontology:DOID:1115); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); head and neck cancer (Disease Ontology:DOID:11934); leiomyoma (Disease Ontology:DOID:127); lung cancer (Disease Ontology:DOID:1324); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); ovary epithelial cancer (Disease Ontology:DOID:2152); ovarian cancer (Disease Ontology:DOID:2394); localized osteosarcoma (Disease Ontology:DOID:3356); ovarian carcinoma (Disease Ontology:DOID:4001); hepatocellular carcinoma (Disease Ontology:DOID:684); muscular atrophy (Disease Ontology:DOID:767); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991)", "pathway": " (hsa:900); (R-HSA-6804757)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10196184;10608892;10722742;10980695;10980696;11237011;11359766;11504915;11923872;11983168;14507994;15053880;1535557;15788536;15916963;1614537;16163388;16402859;16474402;16845383;17121812;19756449;19816404;19838211;20438709;20713061;21730132;21730163;21986495;24366607;25418920;25576301;25880248;26154972;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29437277;29632046;29769354;29786170;30315122;30410026;30429286;30524438;31217245;31530632;31844290;31848261;32157095;32357974;32387766;32897882;32938616;33537174;33543294;33592498;33717175;33760168;33912179;33968037;34171305;34509645;34932366;35580925;36010968;36284347;36400182;7686617;7784084;7957050;8319905;8479525;8626390;8806701;8887688;8954786", "class_list": "", "function": "Long noncoding RNA OIP5AS1 facilitates the progression of ovarian cancer via the miR1283p/CCNG1 axis., [RefSeq, PubMed]; May play a role in growth regulation. Is associated with G2/M phase arrest in response to DNA damage. May be an intermediate by which p53 mediates its role as an inhibitor of cellular proliferation (By similarity)., [UniProtKB]; PRMT6 functionally associates with PRMT5 to promote colorectal cancer progression through epigenetically repressing the expression of CDKN2B and CCNG1., [RefSeq, PubMed]; Silencing the Expression of Cyclin G1 Enhances the Radiosensitivity of Hepatocellular Carcinoma In Vitro and In Vivo by Inducing Apoptosis., [RefSeq, PubMed]; The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. [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, "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": 18, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7B2;B4DLW7;D3DQK7;Q15757;Q96L32", "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:0005737 cytoplasm;GO:0000307 cyclin-dependent protein kinase holoenzyme complex", "go_biological_process": "GO:0051301 cell division;GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity;GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P51959-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NF99-1", "uniprot_id": [ { "id": "ZN397_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NF99", "type": "external" } ], "mass": 61139.0, "length": 534, "protein_name": "Zinc finger protein 397", "gene_name": "ZNF397", "organism": "Human", "refseq_name": "zinc finger protein 397 isoform 1", "refseq_ac": [ { "id": "NP_001128650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128650", "type": "external" } ], "gene_names_uniprotkb": "ZNF397; ZNF47; ZSCAN15", "gene_names_refseq": "ZNF397; ZNF47; ZSCAN15", "protein_names_uniprotkb": "Zinc finger protein 397; Zinc finger and SCAN domain-containing protein 15; Zinc finger protein 47", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 15; zinc finger protein 397 isoform 1; zinc finger protein 47", "tax_id": 9606, "disease": "", "pathway": " (hsa:84307)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;12801647;18369653;23186163;24715725;25576301;25755297;26992070;28228285;29242379;29393594;29508533;30315122;30429286;31844290;32157095;32938616;33968037;35051231;35580925;36215666", "class_list": "", "function": "Isoform 3 acts as a DNA-dependent transcriptional repressor., [UniProtKB, PubMed]; This gene encodes a protein with a N-terminal SCAN domain, and the longer isoform contains nine C2H2-type zinc finger repeats in the C-terminal domain. The protein localizes to centromeres during interphase and early prophase, and different isoforms can repress or activate transcription in transfection studies. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]., [RefSeq]; ZNF397, a new class of interphase to early prophase-specific, SCAN-zinc-finger, mammalian centromere protein., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "Q9BRM2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization 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_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton", "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", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8NF99-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5FVE4-1", "uniprot_id": [ { "id": "ACBG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5FVE4", "type": "external" } ], "mass": 74354.0, "length": 666, "protein_name": "Long-chain-fatty-acid--CoA ligase ACSBG2", "gene_name": "ACSBG2", "organism": "Human", "refseq_name": "long-chain-fatty-acid--CoA ligase ACSBG2 isoform a", "refseq_ac": [ { "id": "NP_001276106", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276106", "type": "external" } ], "gene_names_uniprotkb": "ACSBG2; BGR; PRO5005", "gene_names_refseq": "ACSBG2; BGR; BRGL; PRTD-NY3; PRTDNY3", "protein_names_uniprotkb": "Long-chain-fatty-acid--CoA ligase ACSBG2; 6.2.1.15; 6.2.1.3; Acyl-CoA synthetase bubblegum family member 2; Arachidonate--CoA ligase ACSBG2; Bubblegum-related protein; PRTD-NY3", "protein_names_refseq": "arachidonate--CoA ligase ACSBG2; bubblegum-related protein; long-chain-fatty-acid--CoA ligase ACSBG2 isoform a; long-chain-fatty-acid--CoA ligase ACSBG2; testicular tissue protein Li 8", "tax_id": 9606, "disease": "adrenoleukodystrophy (Disease Ontology:DOID:10588)", "pathway": " (hsa:81616); (R-HSA-75876)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10548543;10954726;11230166;11237011;11889465;12371743;12482854;12525535;12975309;12975357;15469937;15685348;16036915;16371355;16762313;17379924;17681178;17762044;18003621;18554506;18728184;19505953;19826053;20937905;21959040;32350084;32488085;33392160;35051231;35494241;35580925;38253038;8075637", "class_list": "", "function": "A new gene exhibiting 50-fold difference in expression level between adult and fetal human testes was cloned and named the BGR-like gene. It was exclusively expressed in testes and was a testes-specific isoform of the BGR gene., [RefSeq, PubMed]; Catalyzes the conversion of fatty acids such as long chain and very long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids (PubMed:16371355, PubMed:16762313). Has increased ability to activate oleic and linoleic acid (PubMed:16371355). May play a role in spermatogenesis (PubMed:15685348)., [UniProtKB, PubMed, PubMed, PubMed]; The limited tissue expression pattern and limited substrate specificity rule out a likely role for this enzyme in X-linked adrenoleukodystrophy pathology., [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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 28, "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": "B3KSF2;Q6UWJ3;Q7Z5A0;Q8WW03;Q96M36;Q9BYZ3;Q9H0C4", "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": "6.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.25", "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:0005524 ATP binding;GO:0047617 fatty acyl-CoA hydrolase activity;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0031957 very long-chain fatty acid-CoA ligase activity;GO:0047676 arachidonate-CoA ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0035338 long-chain fatty-acyl-CoA biosynthetic process;GO:0042759 long-chain fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q5FVE4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBK6-1", "uniprot_id": [ { "id": "ZCH10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBK6", "type": "external" } ], "mass": 20967.0, "length": 192, "protein_name": "Zinc finger CCHC domain-containing protein 10", "gene_name": "ZCCHC10", "organism": "Human", "refseq_name": "zinc finger CCHC domain-containing protein 10 isoform 6", "refseq_ac": [ { "id": "NP_001287751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287751", "type": "external" } ], "gene_names_uniprotkb": "ZCCHC10", "gene_names_refseq": "ZCCHC10", "protein_names_uniprotkb": "Zinc finger CCHC domain-containing protein 10", "protein_names_refseq": "zinc finger CCHC domain-containing protein 10 isoform 6; zinc finger CCHC domain-containing protein 10; zinc finger, CCHC domain containing 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:54819)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;28228285;28832583;29242379;29508533;31138778;31844290;32502341;33968037", "class_list": "", "function": "ZCCHC10 exerts its tumor-suppressive effects by stabilizing the p53 protein and can be used a potential prognostic marker and therapeutic target in lung adenocarcinoma. 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, "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": 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": "Q9NXR4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8TBK6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15884-1", "uniprot_id": [ { "id": "ITF2_HUMAN", "url": "https://www.uniprot.org/uniprot/P15884", "type": "external" } ], "mass": 71308.0, "length": 667, "protein_name": "Transcription factor 4", "gene_name": "TCF4", "organism": "Human", "refseq_name": "transcription factor 4 isoform s", "refseq_ac": [ { "id": "NP_001335144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335144", "type": "external" } ], "gene_names_uniprotkb": "TCF4; BHLHB19; ITF2; SEF2", "gene_names_refseq": "CDG2T; E2-2; FCD2; FECD3; ITF-2; ITF2; PTHS; SEF-2; SEF2-1A; SEF2-1B; SEF2-1D; SEF2-1; SEF2; TCF-4; TCF4; bHLHb19", "protein_names_uniprotkb": "Transcription factor 4; Class B basic helix-loop-helix protein 19; ITF-2; Immunoglobulin transcription factor 2; SEF-2; SL3-3 enhancer factor 2; TCF-4; bHLHb19", "protein_names_refseq": "SL3-3 enhancer factor 2; class B basic helix-loop-helix protein 19; immunoglobulin transcription factor 2; transcription factor 4 isoform s", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); Pitt-Hopkins syndrome (Disease Ontology:DOID:0060488); Fuchs' endothelial dystrophy (Disease Ontology:DOID:11555); Lynch syndrome (Disease Ontology:DOID:3883); schizophrenia (Disease Ontology:DOID:5419); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6925); (R-HSA-525793); (R-HSA-9839394); (R-HSA-9943411)", "pathway_count": 4, "publication_count": 103, "publication_id_list": "10.1101/2023.09.13.557529;10199952;10330143;10601328;10805738;11237011;11782431;12634428;12682017;15647753;16263726;16372014;1681116;17074750;17433364;17436254;17436255;17467953;17717186;18042460;18299279;18728071;19235238;19564926;19651622;20160094;20184619;20211137;2105528;21406692;21789225;22045651;22046413;22569126;22777675;22922743;2308860;23186163;23481700;24094747;24255041;24715725;25168903;25356899;25418920;25466284;25576301;25593321;25645385;26154972;26768311;26929215;26992070;27661449;27846572;27862975;28904123;28921696;29437277;29557506;29671580;30315122;30410026;30429286;30467960;31154438;31217245;31409900;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33912179;34171305;34185709;34357683;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37222488;37938771;38665916;38847385;38884552;9069290;9302263;9418854;9786951;9858528;9988769", "class_list": "", "function": "Dysregulation of the TCF4 Isoform in Corneal Endothelial Cells of Patients With Fuchs Endothelial Corneal Dystrophy., [RefSeq, PubMed]; MALAT1/miR-7-5p/TCF4 Axis Regulating Menstrual Blood Mesenchymal Stem Cells Improve Thin Endometrium Fertility by the Wnt Signaling Pathway., [RefSeq, PubMed]; This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]., [RefSeq]; Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'., [UniProtKB]", "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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KT62;B3KUC0;B4DT37;B4DUG3;B7Z5M6;B7Z6Y1;G0LNT9;G0LNU0;G0LNU1;G0LNU2;G0LNU4;G0LNU5;G0LNU8;G0LNU9;G0LNV0;G0LNV1;G0LNV2;H3BPQ1;Q08AP2;Q08AP3;Q15439;Q15440;Q15441", "ec_number_list": [], "go_molecular_function": "GO:0001093 TFIIB-class transcription factor binding;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin;GO:1990907 beta-catenin-TCF complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0045666 positive regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "P15884-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13618-1", "uniprot_id": [ { "id": "CUL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13618", "type": "external" } ], "mass": 88930.0, "length": 768, "protein_name": "Cullin-3", "gene_name": "CUL3", "organism": "Human", "refseq_name": "cullin-3 isoform 2", "refseq_ac": [ { "id": "NP_001244126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244126", "type": "external" } ], "gene_names_uniprotkb": "CUL3; KIAA0617", "gene_names_refseq": "CUL-3; CUL3; NEDAUS; PHA2E", "protein_names_uniprotkb": "Cullin-3; CUL-3", "protein_names_refseq": "cullin-3 isoform 2", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); neurodevelopmental disorder with or without autism or seizures (Disease Ontology:DOID:0061147); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); pseudohypoaldosteronism (Disease Ontology:DOID:4479); pseudohypoaldosteronism type 2E (MONDO:MONDO:0013782)", "pathway": " (hsa:8452); (R-HSA-4641258); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-8951664); (R-HSA-9013418); (R-HSA-9013422); (R-HSA-9679191); (R-HSA-9706019); (R-HSA-9755511); (R-HSA-983168); (R-HSA-9929491)", "pathway_count": 12, "publication_count": 448, "publication_id_list": 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"class_list": "", "function": "Core component of multiple cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:29695787). BCR complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the BCR complex depends on the BTB domain-containing protein as the substrate recognition component. BCR(KLHL42) is involved in ubiquitination of KATNA1. BCR(SPOP) is involved in ubiquitination of BMI1/PCGF4, BRMS1, MACROH2A1 and DAXX, GLI2 and GLI3. Can also form a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing homodimeric SPOPL or the heterodimer formed by SPOP and SPOPL; these complexes have lower ubiquitin ligase activity. BCR(KLHL9-KLHL13) controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis. BCR(KLHL12) is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B) (PubMed:22358839, PubMed:27716508). BCR(KLHL3) acts as a regulator of ion transport in the distal nephron; by mediating ubiquitination of WNK4 (PubMed:23387299, PubMed:23453970, PubMed:23576762). The BCR(KLHL20) E3 ubiquitin ligase complex is involved in interferon response and anterograde Golgi to endosome transport: it mediates both ubiquitination leading to degradation and 'Lys-33'-linked ubiquitination (PubMed:20389280, PubMed:21670212, PubMed:21840486, PubMed:24768539). The BCR(KLHL21) E3 ubiquitin ligase complex regulates localization of the chromosomal passenger complex (CPC) from chromosomes to the spindle midzone in anaphase and mediates the ubiquitination of AURKB (PubMed:19995937). The BCR(KLHL22) ubiquitin ligase complex mediates monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation (PubMed:23455478). The BCR(KLHL22) ubiquitin ligase complex is also responsible for the amino acid-stimulated 'Lys-48' polyubiquitination and proteasomal degradation of DEPDC5. Through the degradation of DEPDC5, releases the GATOR1 complex-mediated inhibition of the TORC1 pathway (PubMed:29769719). The BCR(KLHL25) ubiquitin ligase complex is involved in translational homeostasis by mediating ubiquitination and subsequent degradation of hypophosphorylated EIF4EBP1 (4E-BP1) (PubMed:22578813). The BCR(KLHL25) ubiquitin ligase complex is also involved in lipid synthesis by mediating ubiquitination and degradation of ACLY (PubMed:27664236). The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). Involved in ubiquitination of cyclin E and of cyclin D1 (in vitro) thus involved in regulation of G1/S transition. Involved in the ubiquitination of KEAP1, ENC1 and KLHL41 (PubMed:15983046). In concert with ATF2 and RBX1, promotes degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM. The BCR(KCTD17) E3 ubiquitin ligase complex mediates ubiquitination and degradation of TCHP, a down-regulator of cilium assembly, thereby inducing ciliogenesis (PubMed:25270598). The BCR(KLHL24) E3 ubiquitin ligase complex mediates ubiquitination of KRT14, controls KRT14 levels during keratinocytes differentiation, and is essential for skin integrity (PubMed:27798626). The BCR(KLHL18) E3 ubiquitin ligase complex mediates the ubiquitination of AURKA leading to its activation at the centrosome which is required for initiating mitotic entry (PubMed:23213400). The BCR(KEAP1) E3 ubiquitin ligase complex acts as a key sensor of oxidative and electrophilic stress by mediating ubiquitination and degradation of NFE2L2/NRF2, a transcription factor regulating expression of many cytoprotective genes (PubMed:15601839, PubMed:16006525). As part of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex functions mediates 'Lys-48' ubiquitination and proteasomal degradation of TIAM1 (PubMed:25684205). By controlling the ubiquitination of that RAC1 guanine exchange factors (GEF), regulates RAC1 signal transduction and downstream biological processes including the organization of the cytoskeleton, cell migration and cell proliferation (PubMed:25684205). The BCR(KBTBD4) E3 ubiquitin ligase complex targets CoREST corepressor complex components RCOR1, KDM1A/LSD1 and HDAC2 for proteasomal degradation with RCOR1 likely to be the primary target while degradation of KDM1A and HDAC2 is likely due to their association with RCOR1 (PubMed:33417871). It also targets RCOR3, MIER2 and MIER3 for proteasomal degradation as well as associated proteins ZNF217 and RREB1 with degradation being dependent on the presence of an ELM2 domain in the target proteins (PubMed:36997086). The BCR(ARMC5) complex mediates premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation by mediating ubiquitination of Pol II subunit POLR2A (PubMed:35687106, PubMed:38225631, PubMed:39504960, PubMed:39667934). Required for 'Lys-63'-linked ubiquitination of large ribosomal subunit protein MRPL12 (PubMed:37526061). Protects against human enterovirus D68 infection by mediating the ubiquitination and subsequent degradation of viral protein VP1 (PubMed:40396757)., [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, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Fundamental role for KLHL3 and CUL3 in blood pressure, K(+) and pH homeostasis Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of cullin 3 inhibits progressive phenotypes and increases chemosensitivity in cholangiocarcinoma cells., [RefSeq, PubMed]; This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 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, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 57, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K536;B8ZZC3;O75415;Q569L3;Q9UBI8;Q9UET7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0005112 Notch binding;GO:0061630 ubiquitin protein ligase activity;GO:0031208 POZ domain binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:1900076 regulation of cellular response to insulin stimulus;GO:0006954 inflammatory response;GO:0007229 integrin-mediated signaling pathway;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 45.3, "record_id": "Q13618-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZU0-1", "uniprot_id": [ { "id": "FAM9B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZU0", "type": "external" } ], "mass": 22438.0, "length": 186, "protein_name": "Protein FAM9B", "gene_name": "FAM9B", "organism": "Human", "refseq_name": "protein FAM9B", "refseq_ac": [ { "id": "NP_995321", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_995321", "type": "external" } ], "gene_names_uniprotkb": "FAM9B; TEX39B", "gene_names_refseq": "FAM9B; TEX39B", "protein_names_uniprotkb": "Protein FAM9B", "protein_names_refseq": "protein FAM9B; testis expressed 39B", "tax_id": 9606, "disease": "", "pathway": " (hsa:171483)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "12213195;34507348", "class_list": "", "function": "Expressed exclusively in testis; protein is located in the nucleus., [RefSeq, PubMed]; May play a role in meiosis., [UniProtKB, PubMed]; This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011]., [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": 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": "Q0IJ68;Q8N7Z8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005694 chromosome;GO:0000795 synaptonemal complex", "go_biological_process": "GO:0007286 spermatid development;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8IZU0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53FD0-1", "uniprot_id": [ { "id": "ZC21C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53FD0", "type": "external" } ], "mass": 51658.0, "length": 456, "protein_name": "Zinc finger C2HC domain-containing protein 1C", "gene_name": "ZC2HC1C", "organism": "Human", "refseq_name": "zinc finger C2HC domain-containing protein 1C isoform b", "refseq_ac": [ { "id": "NP_001035895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035895", "type": "external" } ], "gene_names_uniprotkb": "ZC2HC1C; C14orf140; FAM164C", "gene_names_refseq": "C14orf140; FAM164C; ZC2HC1C", "protein_names_uniprotkb": "Zinc finger C2HC domain-containing protein 1C", "protein_names_refseq": "family with sequence similarity 164, member C; protein FAM164C; zinc finger C2HC domain-containing protein 1C isoform b; zinc finger C2HC domain-containing protein 1C", "tax_id": 9606, "disease": "", "pathway": " (hsa:79696)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;33968037;36193031;39894887", "class_list": "", "function": "Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "E9PJQ0;Q9BTA8;Q9H5S9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q53FD0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UI08-1", "uniprot_id": [ { "id": "EVL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UI08", "type": "external" } ], "mass": 44620.0, "length": 416, "protein_name": "Ena/VASP-like protein", "gene_name": "EVL", "organism": "Human", "refseq_name": "ena/VASP-like protein isoform 2", "refseq_ac": [ { "id": "NP_001317150", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317150", "type": "external" } ], "gene_names_uniprotkb": "EVL; RNB6", "gene_names_refseq": "EVL; RNB6", "protein_names_uniprotkb": "Ena/VASP-like protein; Ena/vasodilator-stimulated phosphoprotein-like", "protein_names_refseq": "ena/VASP-like protein isoform 2; ena/VASP-like protein; ena/vasodilator-stimulated phosphoprotein-like; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "tauopathy (Disease Ontology:DOID:680)", "pathway": " (hsa:51466); (R-HSA-202433); (R-HSA-376176); (R-HSA-5663220)", "pathway_count": 4, "publication_count": 134, "publication_id_list": "10102266;10102268;10600384;10671560;10678165;10747096;10811803;10892742;10931946;10958683;10993894;11048639;11237011;11375980;11390650;11607830;11752630;12429848;12508280;12577064;12732141;12805219;14510693;15006353;15063764;15085137;15469845;15507212;15864301;15866170;15944396;16292343;16439214;16622419;16622420;16943183;16959974;17030981;17129783;17198702;1737036;17565045;17652306;18001770;18097444;18158903;18669648;18923426;19350017;19367720;19690332;19815554;20030946;20101212;20375348;20591975;21148482;21397845;21576392;21868368;22094460;22275430;22608513;22790947;23186163;23222643;23481700;23801653;24275569;24714562;24914801;25576301;25892735;26154972;26375851;26728094;26758079;26992070;27452731;27655845;28218747;28228285;28446606;28832583;28882895;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;31020640;31154438;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32373127;32387766;32502341;32938616;32983136;33043033;33592498;33717175;33912179;33936100;34171305;34185709;34357683;34509645;34550860;35051231;35154160;35561310;35580925;36284347;37294695;37938771;7565724;8798379;8824201;9115214;9649308;9846482", "class_list": "", "function": "Elevated EVL Methylation Level in the Normal Colon Mucosa Is a Potential Risk Biomarker for Developing Recurrent Adenomas., [RefSeq, PubMed]; Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. EVL enhances actin nucleation and polymerization., [UniProtKB]; Exercise effects on DNA methylation in EVL, CDKN2A (p14, ARF), and ESR1 in colon tissue from healthy men and women., [RefSeq, 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": 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K105;B7Z3I5;O95884;Q7Z522;Q8TBV1;Q9UF25;Q9UIC2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0017124 SH3 domain binding;GO:0005522 profilin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0010633 negative regulation of epithelial cell migration;GO:1900028 negative regulation of ruffle assembly;GO:0007015 actin filament organization;GO:0007166 cell surface receptor signaling pathway;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q9UI08-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y285-1", "uniprot_id": [ { "id": "SYFA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y285", "type": "external" } ], "mass": 57564.0, "length": 508, "protein_name": "Phenylalanine--tRNA ligase alpha subunit", "gene_name": "FARSA", "organism": "Human", "refseq_name": "phenylalanine--tRNA ligase alpha subunit", "refseq_ac": [ { "id": "NP_004452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004452", "type": "external" } ], "gene_names_uniprotkb": "FARSA; FARSLA; FARSL; FARS", "gene_names_refseq": "CML33; FARSA; FARSLA; FARSL; FRSA; PheHA; RILDBC2", "protein_names_uniprotkb": "Phenylalanine--tRNA ligase alpha subunit; 6.1.1.20; CML33; PheRS; Phenylalanyl-tRNA synthetase alpha subunit", "protein_names_refseq": "pheRS; phenylalanine tRNA ligase 1, alpha, cytoplasmic; phenylalanine--tRNA ligase alpha chain; phenylalanine--tRNA ligase alpha subunit; phenylalanine-tRNA synthetase alpha-subunit; phenylalanine-tRNA synthetase-like, alpha subunit; phenylalanyl-tRNA synthetase alpha chain; phenylalanyl-tRNA synthetase alpha subunit; phenylalanyl-tRNA synthetase-like, alpha subunit", "tax_id": 9606, "disease": "Rajab interstitial lung disease with brain calcifications 2 (MONDO:MONDO:0100220)", "pathway": " (hsa:2193); (R-HSA-379716)", "pathway_count": 2, "publication_count": 130, "publication_id_list": "10049785;11237011;11347887;11714285;11829477;11858721;12665801;12690580;1373391;14660560;14671330;16055448;16429158;16906134;1761529;18077418;18446792;18691976;19608861;20068231;20112406;20223217;22223895;23186163;23481700;24714562;24715725;25418920;25576301;25645385;25810538;25892735;26154972;26811146;26929215;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28489076;28510447;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29314611;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30397120;30484775;30524438;30833945;31217245;31222486;31355908;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;34561969;35051231;35154160;35251023;35318648;35580925;36215666;36241641;36284347;36675119;37217939;37938771;38665916;40914422;4130389;6022858;656444;7118399;7654687;8052601;8078941;8188258;8428657;8449960;9177188;9278442;9421509;9431993", "class_list": "", "function": "Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008]., [RefSeq]; FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects., [RefSeq, PubMed]; First Report of FARSA in the Regulation of Cell Cycle and Survival in Mantle Cell Lymphoma Cells via PI3K-AKT and FOXO1-RAG1 Axes. 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, "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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "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": "B4E363;Q9NSD8;Q9Y4W8", "ec_number_list": [ { "id": "6.1.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.20", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0000049 tRNA binding;GO:0004826 phenylalanine-tRNA ligase activity", "go_cellular_component": "GO:0009328 phenylalanine-tRNA ligase complex;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0051290 protein heterotetramerization;GO:0006432 phenylalanyl-tRNA aminoacylation;GO:0006412 translation;GO:0043039 tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9Y285-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZU52-1", "uniprot_id": [ { "id": "K0408_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZU52", "type": "external" } ], "mass": 79163.0, "length": 694, "protein_name": "Uncharacterized protein KIAA0408", "gene_name": "KIAA0408", "organism": "Human", "refseq_name": "uncharacterized protein KIAA0408", "refseq_ac": [ { "id": "NP_055517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055517", "type": "external" } ], "gene_names_uniprotkb": "KIAA0408", "gene_names_refseq": "KIAA0408", "protein_names_uniprotkb": "Uncharacterized protein KIAA0408", "protein_names_refseq": "uncharacterized protein KIAA0408", "tax_id": 9606, "disease": "", "pathway": " (hsa:9729)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;20058876;29331515;29557506;30379171;33968037;37340703", "class_list": "", "function": "", "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KRE5;E1P573;O43158;Q5TF20;Q7L2M2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6ZU52-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HC77-1", "uniprot_id": [ { "id": "CPAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HC77", "type": "external" } ], "mass": 153000.0, "length": 1338, "protein_name": "Centrosomal P4.1-associated protein", "gene_name": "CPAP", "organism": "Human", "refseq_name": "centrosomal P4.1-associated protein", "refseq_ac": [ { "id": "NP_060921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060921", "type": "external" } ], "gene_names_uniprotkb": "CPAP; CENPJ; LAP; LIP1", "gene_names_refseq": "BM032; CENP-J; CENPJ; CPAP; LAP; LIP1; MCPH6; SASS4; SCKL4; Sas-4", "protein_names_uniprotkb": "Centrosomal P4.1-associated protein; CENP-J; Centromere protein J; Centrosome assembly and centriole elongation protein; LAG-3-associated protein; LYST-interacting protein 1", "protein_names_refseq": "LAG-3-associated protein; LYST-interacting protein 1; LYST-interacting protein LIP1; LYST-interacting protein LIP7; Spindle assembly abnormal 4; centromere protein J; centrosomal P4.1-associated protein", "tax_id": 9606, "disease": "Seckel syndrome (Disease Ontology:DOID:0050569); Seckel syndrome 4 (Disease Ontology:DOID:0070010); primary autosomal recessive microcephaly 6 (Disease Ontology:DOID:0070290); autosomal recessive primary microcephaly (Disease Ontology:DOID:0070296); microcephaly (Disease Ontology:DOID:10907)", "pathway": " (hsa:55835); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-6804115); (R-HSA-8854518)", "pathway_count": 9, "publication_count": 163, "publication_id_list": "11003675;11076968;11237011;11814693;11896574;11956313;11984006;12207013;12221128;12364337;12852856;12897130;13678582;14580337;14654843;14968113;15047868;15498487;15705883;15713436;15793586;16140933;16160013;16357211;16462731;16516142;16890155;17081983;17146433;17574030;17646400;17681131;17719545;17924679;18037885;18077418;18337750;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19007248;19081074;19131341;19276069;19651622;19691289;19940019;20230748;20308558;20352051;20399632;20522431;20531387;20558667;20852615;21273506;21347367;21406692;21422230;21548880;21565611;21620453;21725307;21792235;22020124;22094468;22179047;22252318;22365832;22433857;22641346;22653444;23141531;23141541;23186163;23236473;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24715725;24982133;25047611;25313408;25385835;25532896;25576301;25802875;26992070;26997271;27185865;27219064;27306797;27846572;27920218;28218747;28228285;28832583;28834231;29242379;29557506;30315122;30379171;30429286;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33392160;33402344;33592498;33691108;33717175;33912179;33968037;34087483;34171305;34185709;34405274;34561969;34932366;35051231;35281599;35404385;35494241;35580925;35738280;36010968;37823337;7769006;7790358;8838651;8944033;9184226;9671765;9712883", "class_list": "", "function": "A genome-wide CRISPR-Cas9 screen identifies CENPJ as a host regulator of altered microtubule organization during Plasmodium liver infection., [RefSeq, PubMed]; CPAP insufficiency leads to incomplete centrioles that duplicate but fragment., [RefSeq, PubMed]; Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an important role in cell division and centrosome function by participating in centriole duplication (PubMed:17681131, PubMed:20531387). Inhibits microtubule nucleation from the centrosome. Involved in the regulation of slow processive growth of centriolar microtubules. Acts as a microtubule plus-end tracking protein that stabilizes centriolar microtubules and inhibits microtubule polymerization and extension from the distal ends of centrioles (PubMed:15047868, PubMed:27219064, PubMed:27306797). Required for centriole elongation and for STIL-mediated centriole amplification (PubMed:22020124). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865). May be involved in the control of centriolar-microtubule growth by acting as a regulator of tubulin release (PubMed:27306797)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Separation-of-function MCPH-associated mutations in CPAP affect centriole number and length., [RefSeq, PubMed]; This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 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, "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": 20, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 5, "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": "Q2KHM6;Q5JPD5;Q5T6R5;Q96KS5;Q9C067", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0019901 protein kinase binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0015631 tubulin binding", "go_cellular_component": "GO:0008275 gamma-tubulin small complex;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0046601 positive regulation of centriole replication;GO:0046785 microtubule polymerization;GO:1905832 positive regulation of spindle assembly;GO:1904951 positive regulation of establishment of protein localization;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "Q9HC77-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13470-1", "uniprot_id": [ { "id": "TNK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13470", "type": "external" } ], "mass": 72468.0, "length": 666, "protein_name": "Non-receptor tyrosine-protein kinase TNK1", "gene_name": "TNK1", "organism": "Human", "refseq_name": "non-receptor tyrosine-protein kinase TNK1 isoform 1", "refseq_ac": [ { "id": "NP_001238831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238831", "type": "external" } ], "gene_names_uniprotkb": "TNK1", "gene_names_refseq": "KOS1; TNK1", "protein_names_uniprotkb": "Non-receptor tyrosine-protein kinase TNK1; 2.7.10.2; CD38 negative kinase 1", "protein_names_refseq": "CD38 negative kinase 1; non-receptor tyrosine-protein kinase TNK1 isoform 1; non-receptor tyrosine-protein kinase TNK1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8711)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10873601;11237011;17081983;17344846;17471239;18669648;18691976;18830724;18974114;19369195;20068231;21406692;23186163;23481700;24714562;25645385;29242379;30429286;32387766;33070267;34504101;35051231;35580925;36334623;37776857;8632913", "class_list": "", "function": "Fusion crystallization reveals the behavior of both the 1TEL crystallization chaperone and the TNK1 UBA domain., [RefSeq, PubMed]; Involved in negative regulation of cell growth. Has tumor suppressor properties. Plays a negative regulatory role in the Ras-MAPK pathway. May function in signaling pathways utilized broadly during fetal development and more selectively in adult tissues and in cells of the lymphohematopoietic system. Could specifically be involved in phospholipid signal transduction., [UniProtKB, PubMed, PubMed]; Meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Polymorphism rs11867353 of Tyrosine Kinase Non-Receptor 1 (TNK1) Gene Is a Novel Genetic Marker for Alzheimer's Disease., [RefSeq, PubMed]; TNK1 is a ubiquitin-binding and 14-3-3-regulated kinase that can be targeted to block tumor growth. Publication Status: Online-Only, [RefSeq, PubMed]; TNK1 therefore acts as a novel molecular switch that can determine the properties of TNFalpha signaling and therefore cell death., [RefSeq, PubMed]; The noncatalytic regions of the tyrosine kinase Tnk1 are important for activity and substrate specificity., [RefSeq, PubMed]; The protein encoded by this gene belongs to the tyrosine protein kinase family. Tyrosine protein kinases are important regulators of intracellular signal transduction pathways, mediating cellular proliferation, survival, and development. This gene is highly expressed in fetal tissues and at lower levels in few adult tissues, thus may function in signaling pathways utilized broadly during fetal development, and more selectively in adult tissues. It plays a negative regulatory role in the Ras-Raf1-MAPK pathway, and knockout mice have been shown to develop spontaneous tumors, suggesting a role as a tumor suppressor gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "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": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "O95364;Q8IYI4", "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", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "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_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0046777 protein autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q13470-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63261-1", "uniprot_id": [ { "id": "ACTG_HUMAN", "url": "https://www.uniprot.org/uniprot/P63261", "type": "external" } ], "mass": 41793.0, "length": 375, "protein_name": "Actin, cytoplasmic 2", "gene_name": "ACTG1", "organism": "Human", "refseq_name": "actin, cytoplasmic 2", "refseq_ac": [ { "id": "NP_001186883", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186883", "type": "external" } ], "gene_names_uniprotkb": "ACTG1; ACTG", "gene_names_refseq": "ACTG1; ACTG; ACT; DFNA20; DFNA26; HEL-176", "protein_names_uniprotkb": "Actin, cytoplasmic 2; 3.6.4.-; Gamma-actin", "protein_names_refseq": "actin, cytoplasmic 2; cytoskeletal gamma-actin; epididymis luminal protein 176", "tax_id": 9606, "disease": "Baraitser-Winter syndrome 1 (Disease Ontology:DOID:0081112); Baraitser-Winter syndrome 2 (Disease Ontology:DOID:0081113); hypertrophic cardiomyopathy 11 (Disease Ontology:DOID:0110317); autosomal dominant nonsyndromic deafness 20 (Disease Ontology:DOID:0110550); intestinal atresia (Disease Ontology:DOID:10486); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); Moyamoya disease (Disease Ontology:DOID:13099); patent ductus arteriosus (Disease Ontology:DOID:13832); thoracic aortic aneurysm (Disease Ontology:DOID:14004); nemaline myopathy (Disease Ontology:DOID:3191); congenital structural myopathy (Disease Ontology:DOID:422); myopathy (Disease Ontology:DOID:423)", "pathway": " (hsa:71); (R-HSA-1445148); (R-HSA-190873); (R-HSA-196025); (R-HSA-2029482); (R-HSA-3928662); (R-HSA-3928665); (R-HSA-418990); (R-HSA-437239); (R-HSA-4420097); (R-HSA-445095); (R-HSA-446353); (R-HSA-5626467); (R-HSA-5663213); (R-HSA-5663220); (R-HSA-5674135); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-8856828); (R-HSA-9013418); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9662360); (R-HSA-9662361); (R-HSA-9664422); (R-HSA-9764561); (R-HSA-9913351); (R-HSA-9953170); (R-HSA-9958825)", "pathway_count": 31, "publication_count": 663, "publication_id_list": 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"class_list": "", "function": "Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. May play a role in the repair of noise-induced stereocilia gaps thereby maintains hearing sensitivity following loud noise damage (By similarity)., [UniProtKB, PubMed, UniProtKB]; Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]., [RefSeq]; Bioinformatic identification and experiment validation revealed that ACTG1 is a promising prognostic signature and therapeutic target for sepsis., [RefSeq, PubMed]; Exosomal PGAM1 promotes prostate cancer angiogenesis and metastasis by interacting with ACTG1. Publication Status: Online-Only, [RefSeq, PubMed]; The non-muscle actinopathy-associated mutation E334Q in cytoskeletal gamma-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins. 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": 1, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 12, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K7C2;P02571;P14104;P99022;Q5U032;Q96E67", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "2.7.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.107", "type": "external" }, { "id": "2.7.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.94", "type": "external" }, { "id": "2.7.1.138", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.138", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "3.1.31.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.31.1", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005524 ATP binding;GO:0016787 hydrolase activity;GO:0019901 protein kinase binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0044305 calyx of Held;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051893 regulation of focal adhesion assembly;GO:0120192 tight junction assembly;GO:0001525 angiogenesis;GO:0007409 axonogenesis;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 67.6, "record_id": "P63261-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GD4-1", "uniprot_id": [ { "id": "AURKB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GD4", "type": "external" } ], "mass": 39311.0, "length": 344, "protein_name": "Aurora kinase B", "gene_name": "AURKB", "organism": "Human", "refseq_name": "aurora kinase B isoform 2", "refseq_ac": [ { "id": "NP_001243763", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243763", "type": "external" } ], "gene_names_uniprotkb": "AURKB; AIK2; AIM1; AIRK2; ARK2; STK12; STK1; STK5", "gene_names_refseq": "AIK2; AIM-1; AIM1; ARK-2; ARK2; AURKB; AurB; IPL1; PPP1R48; STK-1; STK12; STK5; aurkb-sv1; aurkb-sv2", "protein_names_uniprotkb": "Aurora kinase B; 2.7.11.1; AIM-1; ARK-2; Aurora 1; Aurora- and IPL1-like midbody-associated protein 1; Aurora-related kinase 2; Aurora/IPL1-related kinase 2; STK-1; Serine/threonine-protein kinase 12; Serine/threonine-protein kinase 5; Serine/threonine-protein kinase aurora-B", "protein_names_refseq": "aurora kinase B isoform 2; aurora kinase B-Sv1; aurora kinase B-Sv2; aurora- and Ipl1-like midbody-associated protein 1 homolog; aurora- and Ipl1-like midbody-associated protein 1; aurora-1; aurora-B; aurora-related kinase 2; aurora/IPL1-related kinase 2; protein phosphatase 1, regulatory subunit 48; serine/threonine kinase 12; serine/threonine-protein kinase 12; serine/threonine-protein kinase 5; serine/threonine-protein kinase aurora-B", "tax_id": 9606, "disease": "brain cancer (Disease Ontology:DOID:1319); endometrial carcinoma (Disease Ontology:DOID:2871); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:9212); (R-HSA-141430); (R-HSA-141444); (R-HSA-174178); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-4615885); (R-HSA-5663220); (R-HSA-6804756); (R-HSA-68877); (R-HSA-9022692); (R-HSA-9648025)", "pathway_count": 12, "publication_count": 310, "publication_id_list": 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"class_list": "", "function": "AURKB promotes bladder cancer progression by deregulating the p53 DNA damage response pathway via MAD2L2. Publication Status: Online-Only, [RefSeq, PubMed]; AURKB targets DHX9 to promote hepatocellular carcinoma progression via PI3K/AKT/mTOR pathway., [RefSeq, PubMed]; Dynamic phosphorylation of FOXA1 by Aurora B guides post-mitotic gene reactivation., [RefSeq, PubMed]; Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis (PubMed:11516652, PubMed:12925766, PubMed:14610074, PubMed:14722118, PubMed:29449677). The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly (PubMed:11516652, PubMed:12925766, PubMed:14610074, PubMed:14722118, PubMed:26829474). Involved in the bipolar attachment of spindle microtubules to kinetochores and is a key regulator for the onset of cytokinesis during mitosis (PubMed:15249581). Required for central/midzone spindle assembly and cleavage furrow formation (PubMed:12458200, PubMed:12686604). Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: phosphorylates CHMP4C, leading to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis (PubMed:22422861, PubMed:24814515). AURKB phosphorylates the CPC complex subunits BIRC5/survivin, CDCA8/borealin and INCENP (PubMed:11516652, PubMed:12925766, PubMed:14610074). Phosphorylation of INCENP leads to increased AURKB activity (PubMed:11516652, PubMed:12925766, PubMed:14610074). Other known AURKB substrates involved in centromeric functions and mitosis are CENPA, DES/desmin, GPAF, KIF2C, NSUN2, RACGAP1, SEPTIN1, VIM/vimentin, HASPIN, and histones H1.4 and H3 (PubMed:11756469, PubMed:11784863, PubMed:11856369, PubMed:12689593, PubMed:14602875, PubMed:16103226, PubMed:21511733, PubMed:21658950). A positive feedback loop involving HASPIN and AURKB contributes to localization of CPC to centromeres (PubMed:21658950). Phosphorylation of VIM controls vimentin filament segregation in cytokinetic process, whereas histone H3 is phosphorylated at 'Ser-10' and 'Ser-28' during mitosis (H3S10ph and H3S28ph, respectively) (PubMed:11784863, PubMed:11856369). AURKB is also required for kinetochore localization of BUB1 and SGO1 (PubMed:15020684, PubMed:17617734). Phosphorylation of p53/TP53 negatively regulates its transcriptional activity (PubMed:20959462). Key regulator of active promoters in resting B- and T-lymphocytes: acts by mediating phosphorylation of H3S28ph at active promoters in resting B-cells, inhibiting RNF2/RING1B-mediated ubiquitination of histone H2A and enhancing binding and activity of the USP16 deubiquitinase at transcribed genes (By similarity). Acts as an inhibitor of CGAS during mitosis: catalyzes phosphorylation of the N-terminus of CGAS during the G2-M transition, blocking CGAS liquid phase separation and activation, and thereby preventing CGAS-induced autoimmunity (PubMed:33542149). Phosphorylates KRT5 during anaphase and telophase (By similarity). Phosphorylates ATXN10 which promotes phosphorylation of ATXN10 by PLK1 and may play a role in the regulation of cytokinesis and stimulating the proteasomal degradation of ATXN10 (PubMed:25666058)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DNM4;C7G533;C7G534;C7G535;D3DTR4;J9JID1;O14630;O60446;O95083;Q96DV5;Q9UQ46", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "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": "2.7.12.2", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.5.2", "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:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019900 kinase binding;GO:0004712 protein serine/threonine/tyrosine kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005819 spindle", "go_biological_process": "GO:0031117 positive regulation of microtubule depolymerization;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0000278 mitotic cell cycle;GO:0043687 post-translational protein modification;GO:0090307 mitotic spindle assembly", "synthesized_glycan_count": 0, "hit_score": 31.5, "record_id": "Q96GD4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YM7-1", "uniprot_id": [ { "id": "HOME1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YM7", "type": "external" } ], "mass": 40277.0, "length": 354, "protein_name": "Homer protein homolog 1", "gene_name": "HOMER1", "organism": "Human", "refseq_name": "homer protein homolog 1 isoform 2", "refseq_ac": [ { "id": "NP_001264006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264006", "type": "external" } ], "gene_names_uniprotkb": "HOMER1; SYN47", "gene_names_refseq": "HOMER1A; HOMER1B; HOMER1C; HOMER1; HOMER; SYN47; Ves-1", "protein_names_uniprotkb": "Homer protein homolog 1; Homer-1", "protein_names_refseq": "homer homolog 1; homer protein homolog 1 isoform 2; homer protein homolog 1; homer scaffolding protein 1; homer, neuronal immediate early gene, 1; homer-1", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); anxiety disorder (Disease Ontology:DOID:2030); temporal lobe epilepsy (Disease Ontology:DOID:3328); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:9456); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10464340;10851183;11604393;15540461;16242404;16624946;16846852;17897391;18218901;18812509;18829961;20064387;20064388;20519524;21282647;23301498;25378172;25489052;30833945;31092671;31844290;32157095;32387766;32488085;32938616;33298915;33912179;33968037;34171305;34357683;34509645;34788607;35051231;36010968;36181383;38989636;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "CircHOMER1 aggravates oxidative stress, inflammation and extracellular matrix deposition in high glucose-induced human mesangial cells., [RefSeq, PubMed]; Elaboration of the Homer1 recognition landscape reveals incomplete divergence of paralogous EVH1 domains., [RefSeq, PubMed]; Homer1a regulates Shank3 expression and underlies behavioral vulnerability to stress in a model of Phelan-McDermid syndrome., [RefSeq, PubMed]; Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoform 1 regulates the trafficking and surface expression of GRM5. Isoform 3 acts as a natural dominant negative, in dynamic competition with constitutively expressed isoform 1 to regulate synaptic metabotropic glutamate function. Isoform 3, may be involved in the structural changes that occur at synapses during long-lasting neuronal plasticity and development. Forms a high-order complex with SHANK1, which in turn is necessary for the structural and functional integrity of dendritic spines (By similarity). Negatively regulates T cell activation by inhibiting the calcineurin-NFAT pathway. Acts by competing with calcineurin/PPP3CA for NFAT protein binding, hence preventing NFAT activation by PPP3CA (PubMed:18218901)., [UniProtKB, PubMed, UniProtKB]; This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor 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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R688;O96003;Q86YM5", "ec_number_list": [], "go_molecular_function": "GO:0035256 G protein-coupled glutamate receptor binding;GO:0044325 transmembrane transporter binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density", "go_biological_process": "GO:0090279 regulation of calcium ion import;GO:0007206 phospholipase C-activating G protein-coupled glutamate receptor signaling pathway;GO:0051262 protein tetramerization;GO:0051592 response to calcium ion;GO:1902950 regulation of dendritic spine maintenance", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q86YM7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29474-1", "uniprot_id": [ { "id": "NOS3_HUMAN", "url": "https://www.uniprot.org/uniprot/P29474", "type": "external" } ], "mass": 133275.0, "length": 1203, "protein_name": "Nitric oxide synthase 3", "gene_name": "NOS3", "organism": "Human", "refseq_name": "nitric oxide synthase 3 isoform 1", "refseq_ac": [ { "id": "NP_000594", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000594", "type": "external" } ], "gene_names_uniprotkb": "NOS3", "gene_names_refseq": "EC-NOS; ECNOS; MYMY8; NOS3; NOSIII; cNOS; eNOS", "protein_names_uniprotkb": "Nitric oxide synthase 3; 1.14.13.39; Constitutive NOS; EC-NOS; Endothelial NOS; NOS type III; NOSIII; Nitric oxide synthase, endothelial; cNOS; eNOS", "protein_names_refseq": "NOS type III; constitutive NOS; endothelial NOS; nitric oxide synthase 3 (endothelial cell); nitric oxide synthase 3 isoform 1", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); cardiomyopathy (Disease Ontology:DOID:0050700); obstructive sleep apnea (Disease Ontology:DOID:0050848); limb ischemia (Disease Ontology:DOID:0050852); stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); respiratory allergy (Disease Ontology:DOID:0060496); polycystic kidney disease (Disease Ontology:DOID:0080322); osteonecrosis (Disease Ontology:DOID:10159); prostate cancer (Disease Ontology:DOID:10283); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); primary open angle glaucoma (Disease Ontology:DOID:1070); renal hypertension (Disease Ontology:DOID:1073); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); essential hypertension (Disease Ontology:DOID:10825); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); sickle cell anemia (Disease Ontology:DOID:10923); intracranial aneurysm (Disease Ontology:DOID:10941); nephritis (Disease Ontology:DOID:10952); urinary bladder cancer (Disease Ontology:DOID:11054); pulmonary edema (Disease Ontology:DOID:11396); familial hyperlipidemia (Disease Ontology:DOID:1168); diabetic angiopathy (Disease Ontology:DOID:11713); anterior ischemic optic neuropathy (Disease Ontology:DOID:12010); primary biliary cholangitis (Disease Ontology:DOID:12236); vulva cancer (Disease Ontology:DOID:1245); leiomyoma (Disease Ontology:DOID:127); telangiectasis (Disease Ontology:DOID:1272); retinopathy of prematurity (Disease Ontology:DOID:13025); persistent fetal circulation syndrome (Disease Ontology:DOID:13042); Behcet's disease (Disease Ontology:DOID:13241); angle-closure glaucoma (Disease Ontology:DOID:13550); cholestasis (Disease Ontology:DOID:13580); bladder neck obstruction (Disease Ontology:DOID:13948); hypothyroidism (Disease Ontology:DOID:1459); cystic fibrosis (Disease Ontology:DOID:1485); acute chest syndrome (Disease Ontology:DOID:1584); breast cancer (Disease Ontology:DOID:1612); epilepsy (Disease Ontology:DOID:1826); impotence (Disease Ontology:DOID:1875); atherosclerosis (Disease Ontology:DOID:1936); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); endometrial carcinoma (Disease Ontology:DOID:2871); acute kidney failure (Disease Ontology:DOID:3021); high grade glioma (Disease Ontology:DOID:3070); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); coronary artery disease (Disease Ontology:DOID:3393); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); macular retinal edema (Disease Ontology:DOID:4449); esophagus adenocarcinoma (Disease Ontology:DOID:4914); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); aortic valve disease (Disease Ontology:DOID:62); migraine (Disease Ontology:DOID:6364); pulmonary hypertension (Disease Ontology:DOID:6432); overnutrition (Disease Ontology:DOID:654); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); ileus (Disease Ontology:DOID:8440); retinal degeneration (Disease Ontology:DOID:8466); lung disease (Disease Ontology:DOID:850); vasculitis (Disease Ontology:DOID:865); diabetic retinopathy (Disease Ontology:DOID:8947); hepatopulmonary syndrome (Disease Ontology:DOID:900); acute myeloid leukemia (Disease Ontology:DOID:9119); central sleep apnea (Disease Ontology:DOID:9220); nasopharynx carcinoma (Disease Ontology:DOID:9261); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary embolism (Disease Ontology:DOID:9477); irritable bowel syndrome (Disease Ontology:DOID:9778); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970); Moyamoya disease 8 (MONDO:MONDO:0980949)", "pathway": " (hsa:4846); (R-HSA-1222556); (R-HSA-1474151); (R-HSA-203615); (R-HSA-203641); (R-HSA-203754); (R-HSA-392154); (R-HSA-5218920); (R-HSA-9009391); (R-HSA-9856530)", "pathway_count": 10, "publication_count": 420, "publication_id_list": "10029572;10074942;10075701;10319328;10376602;10376603;10427092;10469573;10531334;10559837;10639123;10649434;10671564;10749889;10764742;10781589;10806474;10908731;11029009;11029403;11043579;11044445;11149895;11185956;11208594;11237011;11237855;11278486;11319202;11369763;11397791;11498544;11689445;11696579;11701613;11729179;11740345;11773442;11773443;11804587;11825621;11825873;11826414;11853546;11879202;11893755;11934843;11968001;11970843;11981029;11988487;12048194;12171920;12176338;12388769;12421825;12431978;12437348;12446767;12446846;12482742;12511868;12588983;12591925;12644458;12682286;12724311;12791703;12799359;12808053;12881510;1378832;1379542;14530264;14661033;14764897;14985356;15033483;15044318;15090535;15231873;15304325;15314172;15319431;15381390;15467163;15476407;15496458;15569929;15598505;15642349;15657067;15705661;15710249;15718470;15721870;15733940;15737995;15784500;15933265;15956360;16036314;16126727;16135813;16234328;16239258;16270749;16274718;16344378;16410224;16497987;16545819;16636149;16643490;16645038;16696853;16722822;16737962;16778797;16780920;16807357;16835357;16840783;16864653;16873402;16946136;16959974;17016497;17037979;17060906;17229561;17242275;17264164;17424910;17525128;17535799;17572401;17651694;17662945;17784906;17916740;17921256;18062898;18083107;18171027;18206197;18242595;18303014;18326799;18414637;18435486;18446211;18474398;18483407;18511317;18551195;18564176;18617528;18657504;18710921;1883349;18849972;18931031;19020623;19073885;19089323;19100855;19131647;19136580;19138696;19147491;19188511;19262472;19320971;19342481;19351806;19465546;19501907;19632222;19663506;19666465;19723632;19879889;19881293;19934023;20108211;20134026;20166139;20211863;20213743;20299462;20375905;20416296;20439495;20511233;20650261;20861220;20881236;21063103;21124855;21139021;21147698;21234858;21383022;21680538;21741389;21757745;21851428;21898353;21963997;22028449;22031296;22037549;22120969;22219320;22266855;22294688;22323292;22446104;22469105;22542797;22728282;22801313;23148920;23186163;23204109;23264539;23284736;23328297;23585225;23604495;23624269;23796957;23804534;23836447;23959544;24008236;24039841;24275569;24319055;24376548;24379783;24520379;24530924;24587005;24757494;24804268;24827148;24887036;24914683;24928905;24971375;25020117;25133540;25170746;25286850;25407137;25418920;25419657;25576301;25587652;25869503;26286023;26297582;26304753;26662566;26890696;26929215;27002278;27170438;27235860;27279530;27288742;27463705;27563480;27566546;27593859;27613870;27773804;27797339;27862975;27923677;28000882;28067284;28214453;2825632;28409476;2848506;28539435;28559108;28581447;28627664;28671819;28725180;28801524;28870504;28912066;29059213;29104511;29374229;29393594;29410170;29466710;29557506;29563255;29566307;29632805;29738483;29888556;29899706;30048241;30459171;30471424;30513637;31154438;31205027;31222486;31530632;31584065;31744135;31747921;31754254;31781259;31844290;31848261;31871538;31973180;32106617;32161546;32251485;32296767;32488085;32544536;32554303;32566092;32590330;32606304;32653904;32676485;32696742;32705193;32781622;32863226;32872351;32927592;32938616;32977740;33129903;33168911;33221570;33298915;33320446;33506378;33899122;33912179;33936100;34026871;34050207;34499618;34954278;35051231;35074481;35157107;35182051;35195045;35217004;35258406;35300809;3536512;35409341;35580925;35617030;35772285;35874500;35884891;36284347;36305972;36312762;36941667;37296100;39178948;39242633;39322022;39332480;39467677;7475956;7509596;7512951;7514568;7515611;7519987;7526779;7563095;7663943;7688726;7750475;7876172;7980580;8068008;8137809;8137944;8307017;8502995;8537108;8692835;8700127;8782602;8798458;8876252;9173876;9188442;9325253;9395517;9565625;9580552;9616126;9620797;9705280;9712842;9737779", "class_list": "", "function": "Dynamic remodeling of TRPC5 channel-caveolin-1-eNOS protein assembly potentiates the positive feedback interaction between Ca[2+] and NO signals., [RefSeq, PubMed]; Integration event of an LTR10A element in the upstream region of NOS3 led to the generation of a placenta-specific alternative transcript., [RefSeq, PubMed]; Investigation of the relationships between eNOS T786C, G894T, intron 4 VNTR (4a/b) gene variations and prostate cancer development and progression., [RefSeq, PubMed]; Lacks eNOS activity, dominant-negative form that may down-regulate eNOS activity by forming heterodimers with isoform 1., [UniProtKB]; Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]., [RefSeq]; Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway (PubMed:1378832). NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets., [UniProtKB, PubMed]; The mitochondrial redistribution of ENOS is regulated by AKT1 and dimer status., [RefSeq, PubMed]; The rs3918188 and rs1799983 loci of eNOS gene are associated with susceptibility in patients with systemic lupus erythematosus in Northeast China. Publication Status: Online-Only, [RefSeq, PubMed]; [Relationship of cerebrospinal fluid and serum levels of SIL-2R, eNOS, and CD93 with the progression and prognosis of viral encephalitis in children]., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 0, "mined_o_glycosites": 4, "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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 40, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 81, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A0S0A7;A0S0A8;A8KA63;B2RCQ1;E9PFR2;Q13662;Q14251;Q14434;Q548C1;Q6GSL5;Q9UDC6", "ec_number_list": [ { "id": "2.3.1.97", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.97", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.3.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.225", "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:0004517 nitric-oxide synthase activity;GO:0034617 tetrahydrobiopterin binding;GO:0046870 cadmium ion binding;GO:0003785 actin monomer binding;GO:0005516 calmodulin binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0046209 nitric oxide metabolic process;GO:0014740 negative regulation of muscle hyperplasia;GO:0014806 smooth muscle hyperplasia;GO:0008285 negative regulation of cell population proliferation;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 42.7, "record_id": "P29474-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100010001001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Y26-1", "uniprot_id": [ { "id": "NUTM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Y26", "type": "external" } ], "mass": 120314.0, "length": 1132, "protein_name": "NUT family member 1", "gene_name": "NUTM1", "organism": "Human", "refseq_name": "NUT family member 1 isoform 1", "refseq_ac": [ { "id": "NP_001271221", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271221", "type": "external" } ], "gene_names_uniprotkb": "NUTM1; C15orf55; NUT", "gene_names_refseq": "C15orf55; FAM22H; NUTM1; NUT", "protein_names_uniprotkb": "NUT family member 1; Nuclear protein in testis", "protein_names_refseq": "NAP1L4/NUTM1D fusion protein; NAP1L4/NUTM1D fusion; NUT family member 1 isoform 1; NUT family member 1; nuclear protein in testis", "tax_id": 9606, "disease": "", "pathway": " (hsa:256646)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "12543779;15994877;17934517;18391746;19550370;24714562;25367160;26797129;29557506;30447097;31848261;32387766;32488085;33968037;35051231;35494241;36219702;36690674;37082775;38058041", "class_list": "", "function": "Approximately, 20% of undifferentiated carcinomas of the upper aerodigestive tract not associated with EBV infection were found to have rearrangements of NUT by FISH., [RefSeq, PubMed]; BRD-NUT fusion proteins contribute to carcinogenesis by associating with chromatin and interfering with epithelial differentiation., [RefSeq, PubMed]; NUT Carcinoma in Children and Adolescents: The Expert European Standard Clinical Practice Harmonized Recommendations., [RefSeq, PubMed]; Plays a role in the regulation of proliferation. Regulates TERT expression by modulating SP1 binding to TERT promoter binding sites., [UniProtKB, PubMed]; Some carcinomas of the upper aerodigestive tract have a rearrangement of the nuclear protein of the testis (NUT) gene (NUT midline carcinomas). Review article, [RefSeq, PubMed]; Structural mechanism of BRD4-NUT and p300 bipartite interaction in propagating aberrant gene transcription in chromatin in NUT carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The expanding universe of NUTM1 fusions in pediatric cancer. Review article, [RefSeq, PubMed]; Wild type Brd4 inhibits G(1) to S progression and we also found that the Brd4-NUT fusion augments the inhibition of progression to S phase compared with wild type Brd4., [RefSeq, PubMed]; [Primary pulmonary NUT carcinoma: a clinicopathological analysis of seven cases]., [RefSeq, 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": 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": 1, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DZ00;B7Z7Y4;E7EVE8;F5H4I6;Q86YS8;Q8N7F2;Q9NTB3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q86Y26-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25786-1", "uniprot_id": [ { "id": "PSA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P25786", "type": "external" } ], "mass": 29556.0, "length": 263, "protein_name": "Proteasome subunit alpha type-1", "gene_name": "PSMA1", "organism": "Human", "refseq_name": "proteasome subunit alpha type-1 isoform 2", "refseq_ac": [ { "id": "NP_002777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002777", "type": "external" } ], "gene_names_uniprotkb": "PSMA1; HC2; NU; PROS30; PSC2", "gene_names_refseq": "HC2; HEL-S-275; NU; PROS30; PSMA1", "protein_names_uniprotkb": "Proteasome subunit alpha type-1; 30 kDa prosomal protein; Macropain subunit C2; Multicatalytic endopeptidase complex subunit C2; PROS-30; Proteasome component C2; Proteasome nu chain; Proteasome subunit alpha-6; alpha-6", "protein_names_refseq": "30 kDa prosomal protein; PROS-30; alpha-6; epididymis secretory protein Li 275; macropain subunit C2; macropain subunit nu; multicatalytic endopeptidase complex subunit C2; proteasome (prosome, macropain) subunit, alpha type, 1; proteasome component C2; proteasome nu chain; proteasome subunit alpha 1; proteasome subunit alpha 6; proteasome subunit alpha type-1 isoform 2; proteasome subunit nu; proteasome subunit, alpha-type, 1; protein P30-33K; testicular tissue protein Li 150", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5682); (R-HSA-1169091); (R-HSA-1234176); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-180534); (R-HSA-180585); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-211733); (R-HSA-2467813); (R-HSA-2871837); (R-HSA-349425); (R-HSA-350562); (R-HSA-382556); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69481); (R-HSA-69601); (R-HSA-75815); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9912633); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1051, "publication_id_list": 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"class_list": "", "function": "Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; PSMA1 mediates tumor progression and poor prognosis of gastric carcinoma by deubiquitinating and stabilizing TAZ. Publication Status: Online-Only, [RefSeq, PubMed]; PSMA1, a Poor Prognostic Factor, Promotes Tumor Growth in Lung Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; 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 peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K400;Q53YE8;Q9BRV9", "ec_number_list": [], "go_molecular_function": "GO:0001530 lipopolysaccharide binding", "go_cellular_component": "GO:0034515 proteasome storage granule;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045061 thymic T cell selection;GO:0045063 T-helper 1 cell differentiation;GO:0071357 cellular response to type I interferon;GO:0043374 CD8-positive, alpha-beta T cell differentiation;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 105.6, "record_id": "P25786-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXS4-1", "uniprot_id": [ { "id": "TMM59_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXS4", "type": "external" } ], "mass": 36223.0, "length": 323, "protein_name": "Transmembrane protein 59", "gene_name": "TMEM59", "organism": "Human", "refseq_name": "transmembrane protein 59 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001291972", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291972", "type": "external" } ], "gene_names_uniprotkb": "TMEM59; C1orf8; HSPC001; PRO195", "gene_names_refseq": "C1orf8; DCF1; HSPC001; PRO195; TMEM59; UNQ169", "protein_names_uniprotkb": "Transmembrane protein 59; Liver membrane-bound protein", "protein_names_refseq": "dendritic cell factor 1; liver membrane-bound protein; transmembrane protein 59 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:9528); (R-HSA-9013407); (R-HSA-9696273)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10.1074/mcp.M114.046862;10664463;11237011;11368848;11784792;11809807;11940653;12842009;12975309;15738000;16303743;17028588;17064668;18996843;19103606;20068231;20184954;20427278;20811643;20851766;22451312;23376921;23481700;24690281;25813380;26154972;26992070;27273576;28218747;28228285;28446606;28467828;28871256;28904123;29242379;29314611;29510700;29557506;29632711;29786170;30315122;30365123;30429286;30573663;30779550;31020640;31092671;31154438;31844290;31848261;31871319;32157095;32161166;32350084;32357974;32387766;32488085;32540098;32897882;32938616;32983136;33043033;33055216;33141586;33298915;33392160;33592498;33912179;33936100;33968037;34087483;34105348;34171305;34357683;34405274;34433824;34561969;34799992;34932366;35051231;35154160;35251023;35318648;35426617;35561310;35580925;36010968;37938771;9531558", "class_list": "", "function": "Acts as a regulator of autophagy in response to S.aureus infection by promoting activation of LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C). Acts by interacting with ATG16L1, leading to promote a functional complex between LC3 and ATG16L1 and promoting LC3 lipidation and subsequent activation of autophagy. Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of several proteins such as APP, BACE1, SEAP or PRNP. Inhibits APP transport to the cell surface and further shedding., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; CircTMEM59 Serves as miR-410-3p Sponge to Inhibit the Proliferation and Metastasis of Colorectal Cancer by Regulating HOXD8., [RefSeq, PubMed]; Dcf1 alleviates C99-mediated deficits in drosophila by reducing the cleavage of C99., [RefSeq, PubMed]; Dcf1 induces glioblastoma cells apoptosis by blocking autophagy., [RefSeq, PubMed]; Results provide evidence that DCF1 plays an important role in controlling neuroblastoma (NB) tumor viability, promoting cell apoptosis, and inhibiting tumorigenesis in vivo. DCF1 could be a potential new inhibitor for components of the ERK1/2 signaling pathway and helped understand the molecular mechanism of NB., [RefSeq, PubMed]; TMEM59 affects amyloid precursor protein shedding by reducing its acccess to cellular components., [RefSeq, PubMed]; The Chlamydia effector CT622/TaiP targets a nonautophagy related function of ATG16L1., [RefSeq, PubMed]; The TMEM59 gene identified from our discovery approach was recently implicated in amyloid-beta protein precursor post-translational processing, supporting a role for epigenetic change in LOAD pathology., [RefSeq, PubMed]; This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 8, "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": "B3KQL7;O75393;Q4VBP9;Q5T705;Q96KX7", "ec_number_list": [], "go_molecular_function": "GO:0004175 endopeptidase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:0006914 autophagy;GO:0010508 positive regulation of autophagy;GO:1903077 negative regulation of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9BXS4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60520-1", "uniprot_id": [ { "id": "GBRL2_HUMAN", "url": "https://www.uniprot.org/uniprot/P60520", "type": "external" } ], "mass": 13667.0, "length": 117, "protein_name": "Gamma-aminobutyric acid receptor-associated protein-like 2", "gene_name": "GABARAPL2", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor-associated protein-like 2", "refseq_ac": [ { "id": "NP_009216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009216", "type": "external" } ], "gene_names_uniprotkb": "GABARAPL2; FLC3A; GEF2", "gene_names_refseq": "ATG8C; ATG8; GABARAPL2; GATE-16; GATE16; GEF-2; GEF2", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor-associated protein-like 2; GABA(A) receptor-associated protein-like 2; GATE-16; GEF-2; Ganglioside expression factor 2; General protein transport factor p16; Golgi-associated ATPase enhancer of 16 kDa; MAP1 light chain 3-related protein", "protein_names_refseq": "GABA(A) receptor-associated protein-like 2; MAP1 light chain 3 related protein; gamma-aminobutyric acid receptor-associated protein-like 2; ganglioside expression factor 2; general protein transport factor p16; golgi-associated ATPase enhancer of 16 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:11345); (R-HSA-1632852); (R-HSA-8854214)", "pathway_count": 3, "publication_count": 126, "publication_id_list": "10202141;11096062;11146101;11237011;11414770;11825910;12507496;15169837;15187094;16055087;16395330;16963840;17287340;17525332;17580304;17618624;17658474;17901050;18199687;18319245;18321988;18439900;18466115;19056683;19211835;19322194;19590496;19608861;19855179;19898463;20059746;20095038;20116244;20363736;20404108;20418806;20562859;20713597;20818167;20921139;21177865;21205641;21258367;21383079;21383122;21458671;21460621;21819378;22170151;22219378;22311637;22354992;22421968;22470510;22613832;22682742;22762500;22795129;22854040;23019362;23043107;23202584;23209295;23562278;23685627;23727157;23884233;24089205;24668264;24747438;24954904;25127057;25484072;25502872;25505266;25568151;25684205;26347139;26929408;27846572;28467828;29242379;29314611;29393594;29420192;29458288;29557506;29632046;29632711;30315122;30661429;30990354;31154438;31709703;31722778;31844290;31998317;32161166;32315611;32350084;32357974;32387766;32502341;32897882;32983136;33298915;33592498;33691108;33909989;33912179;33936100;33968037;34338405;34357683;34433824;34932366;35051231;35154160;35251023;35561310;35580925;36010968;37312406;37938771;38665916;7628435", "class_list": "", "function": "ATG8 proteins are co-factors for human dopaminergic neuronal transcriptional control: implications for neuronal resilience in Parkinson disease., [RefSeq, PubMed]; Ubiquitin-like modifier involved in intra-Golgi traffic (By similarity). Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation (By similarity). It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 (By similarity). Involved in autophagy (PubMed:20418806, PubMed:23209295). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production (PubMed:20418806, PubMed:23209295). Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:20418806, PubMed:23209295)., [UniProtKB, PubMed, PubMed, UniProtKB]", "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": 4, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 0, "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": "O08765;Q6FG91;Q9DCP8;Q9UQF7", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0051117 ATPase binding;GO:0031625 ubiquitin protein ligase binding;GO:0008429 phosphatidylethanolamine binding;GO:0000149 SNARE 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:0097352 autophagosome maturation;GO:0000045 autophagosome assembly;GO:0015031 protein transport;GO:0006914 autophagy;GO:0032781 positive regulation of ATP-dependent activity", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "P60520-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14617-1", "uniprot_id": [ { "id": "AP3D1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14617", "type": "external" } ], "mass": 130158.0, "length": 1153, "protein_name": "AP-3 complex subunit delta-1", "gene_name": "AP3D1", "organism": "Human", "refseq_name": "AP-3 complex subunit delta-1 isoform 3", "refseq_ac": [ { "id": "NP_001248755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755", "type": "external" } ], "gene_names_uniprotkb": "AP3D1; PRO0039", "gene_names_refseq": "ADTD; AP3D1; HPS10; hBLVR", "protein_names_uniprotkb": "AP-3 complex subunit delta-1; AP-3 complex subunit delta; Adaptor-related protein complex 3 subunit delta-1; Delta-adaptin", "protein_names_refseq": "AP-3 complex delta subunit, partial CDS; AP-3 complex subunit delta-1 isoform 3; AP-3 complex subunit delta-1; adapter-related protein complex 3 subunit delta-1; adaptor related protein complex 3 delta 1 subunit; delta adaptin; subunit of putative vesicle coat adaptor complex AP-3", "tax_id": 9606, "disease": "Hermansky-Pudlak syndrome 1 (Disease Ontology:DOID:0060539); Hermansky-Pudlak syndrome 2 (Disease Ontology:DOID:0060540); platelet storage pool deficiency (Disease Ontology:DOID:2223); Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753); Hermansky-Pudlak syndrome 10 (MONDO:MONDO:0014885)", "pathway": " (hsa:8943)", "pathway_count": 1, "publication_count": 111, "publication_id_list": "11237011;15598649;17081983;18088087;18452278;18669648;18707149;19413330;19651622;19664995;20058876;20068231;20166139;20220067;21406692;22424782;22544926;23186163;23481700;24275569;24714562;24715725;25418920;25576301;25645385;25802875;25808614;25880248;25892735;26154972;26375851;26728094;26744459;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28228285;28467828;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30472485;30524438;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33886957;33912179;33936100;33968037;33981976;34019948;34087483;34166600;34171305;34185709;34211107;34357683;34509645;34561969;34932366;35051231;35154160;35251023;35318648;35494241;35580925;36010968;36215666;36241641;36284347;36445457;37217939;37938771;40914422;9151686;9303295", "class_list": "", "function": "A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers., [RefSeq, PubMed]; A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation., [RefSeq, PubMed]; Connecting COPD GWAS Genes: FAM13A Controls TGFbeta2 Secretion by Modulating AP-3 Transport., [RefSeq, PubMed]; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]., [RefSeq]; We further demonstrated an abnormal storage pathway in the platelets. The current study represents a second confirmation report and implicates AP3D1 mutations as a cause of Hermansky-Pudlak Syndrome type 10., [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": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "O00202;O75262;Q59HF5;Q96G11;Q9H3C6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:1903232 melanosome assembly;GO:0006886 intracellular protein transport;GO:0060155 platelet dense granule organization;GO:0016192 vesicle-mediated transport;GO:0008089 anterograde axonal transport", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "O14617-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14640-1", "uniprot_id": [ { "id": "DVL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14640", "type": "external" } ], "mass": 75187.0, "length": 695, "protein_name": "Segment polarity protein dishevelled homolog DVL-1", "gene_name": "DVL1", "organism": "Human", "refseq_name": "segment polarity protein dishevelled homolog DVL-1 isoform 1", "refseq_ac": [ { "id": "NP_001317240", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317240", "type": "external" } ], "gene_names_uniprotkb": "DVL1", "gene_names_refseq": "DRS2; DVL1L1; DVL1; DVL", "protein_names_uniprotkb": "Segment polarity protein dishevelled homolog DVL-1; DSH homolog 1; Dishevelled-1", "protein_names_refseq": "DSH homolog 1; dishevelled 1 (homologous to Drosophila dsh); dishevelled, dsh homolog 1; dishevelled-1; segment polarity protein dishevelled homolog DVL-1 isoform 1; segment polarity protein dishevelled homolog DVL-1", "tax_id": 9606, "disease": "autosomal dominant Robinow syndrome 2 (Disease Ontology:DOID:0060765); DiGeorge syndrome (Disease Ontology:DOID:11198); neurodegenerative disease (Disease Ontology:DOID:1289); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:1855); (R-HSA-201681); (R-HSA-201688); (R-HSA-4086400); (R-HSA-4641258); (R-HSA-4641262); (R-HSA-5368598); (R-HSA-5663220); (R-HSA-9673324)", "pathway_count": 9, "publication_count": 222, "publication_id_list": "10198061;10421629;10428961;10481074;10517632;10535959;10581160;10600384;10678165;10684251;10698523;10698942;10862746;10871633;10944533;10958683;11029007;11101902;11237011;11336703;11357136;11358862;11425858;11448771;11493532;11707456;11738041;11742073;11751577;11779461;11818547;11861647;11970895;12015986;12097334;12134165;12205098;12223464;12429848;12533515;12554650;12556519;12577064;12716910;12732141;12805219;12839624;14636582;14684739;14731402;14750955;14981260;15006353;15073180;15084453;15085137;15108311;15143170;15169958;15208637;15454084;15459103;15501440;15507212;15608632;15681612;15852005;15864301;15866170;15936275;15944396;16082208;16116452;16280981;16292343;16329988;16341016;16341017;16439214;16446366;16495441;16547521;16554443;16602827;16622419;16622420;16636067;16723543;16762923;16890161;16943183;16965538;16971168;17021034;17030981;17129783;17130287;17143292;17198702;17234765;17318175;1737036;17373907;17433286;17529994;17569865;17627283;18001770;18077588;18097444;18162551;18215320;18256687;18339531;18347018;18362152;18423204;18606139;18719708;18772438;18793328;18798527;18923426;19000841;19061640;19107203;19350017;19365405;19523939;19530173;19561074;19589360;19619488;19802005;19815554;20004982;20006983;20030946;20101212;20457807;20591975;20803696;20940229;21031079;21044957;21148482;21183070;21183076;21252990;21285348;21316585;21383061;21397845;21576392;21868368;21875946;22000856;22014570;22094460;22275430;22411803;22608513;22643886;22653731;22773843;22790947;23074275;23109420;23140633;23144463;23222643;23256519;23396967;23791946;23801653;23821037;24865425;24914801;25557784;25805136;25817014;25817016;26126266;26992070;27214281;27846572;28904123;29557506;30410026;31844290;31848261;32157095;32161166;32357974;33691108;33912179;33968037;34087483;34171305;34456184;34769425;35051231;35589804;36284347;36509295;36965619;37340703;40307207;7744250;8947551;9034327;9135132;9192851;9214626;9391096;9482734;9501980;9520479;9635432;9649308;9674432;9716412", "class_list": "", "function": "DVL1 and DVL3 require nuclear localisation to regulate proliferation in human myoblasts. Publication Status: Online-Only, [RefSeq, PubMed]; DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]., [RefSeq]; Decoding the Role of DVL1 in Intracranial Meningioma. Publication Status: Online-Only, [RefSeq, PubMed]; Dvl proteins regulate SMAD1, AHR, mTOR, BRD7 protein expression while differentially regulating canonical and non-canonical Wnt signaling pathways in CML cell lines., [RefSeq, PubMed]; Identification of 4-methylation driven genes based prognostic signature in thyroid cancer: an integrative analysis based on the methylmix algorithm., [RefSeq, PubMed]; Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ)., [UniProtKB]; The Wnt pathway protein Dvl1 targets somatostatin receptor 2 for lysosome-dependent degradation., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5TA33;Q5TA35", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0019899 enzyme binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098992 neuronal dense core vesicle;GO:0005829 cytosol;GO:0005874 microtubule;GO:0014069 postsynaptic density", "go_biological_process": "GO:0099054 presynapse assembly;GO:1905386 positive regulation of protein localization to presynapse;GO:0007528 neuromuscular junction development;GO:0035556 intracellular signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "O14640-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2A4-1", "uniprot_id": [ { "id": "ABI3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2A4", "type": "external" } ], "mass": 39035.0, "length": 366, "protein_name": "ABI gene family member 3", "gene_name": "ABI3", "organism": "Human", "refseq_name": "ABI gene family member 3 isoform 2", "refseq_ac": [ { "id": "NP_001128658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128658", "type": "external" } ], "gene_names_uniprotkb": "ABI3; NESH", "gene_names_refseq": "ABI3; NESH; SSH3BP3", "protein_names_uniprotkb": "ABI gene family member 3; Nesh; New molecule including SH3", "protein_names_refseq": "ABI gene family member 3 isoform 2; ABI gene family member 3; new molecule including SH3", "tax_id": 9606, "disease": "", "pathway": " (hsa:51225)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10978530;11230166;11237011;11501947;11956071;17101133;17697703;18991276;20058876;20166139;23481700;24275569;24715725;26375851;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28904123;28978070;29242379;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30429286;31217245;31530632;31844290;31848261;31937595;32265295;32357974;32488085;32894242;32983136;33092647;33141586;33298915;33912179;33936100;33968037;33981976;34087483;35051231;35154160;35275543;35561310;35580925;36140776;37938771", "class_list": "", "function": "ABI3 Is a Novel Early Biomarker of Alzheimer's Disease., [RefSeq, PubMed]; Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy. Publication Status: Online-Only, [RefSeq, PubMed]; Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes., [RefSeq, PubMed]; Forced expression of NESH suppresses motility and metastatic dissemination of malignant cells., [RefSeq, PubMed]; Identification and Quantitation of Novel ABI3 Isoforms Relative to Alzheimer's Disease Genetics and Neuropathology. Publication Status: Online-Only, [RefSeq, PubMed]; May inhibit tumor metastasis (By similarity). In vitro, reduces cell motility., [UniProtKB, PubMed]; NESH (Abi-3), like Abi-1 and Abi-2, is a component of the Abi/WAVE complex, but likely plays a different role in the regulation of c-Abl., [RefSeq, PubMed]; This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 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": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "C9IZN8;Q9H0P6", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0051015 actin filament binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0016020 membrane;GO:0030027 lamellipodium", "go_biological_process": "GO:0098885 modification of postsynaptic actin cytoskeleton;GO:1900028 negative regulation of ruffle assembly;GO:0001764 neuron migration;GO:0030036 actin cytoskeleton organization;GO:0030334 regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9P2A4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50570-1", "uniprot_id": [ { "id": "DYN2_HUMAN", "url": "https://www.uniprot.org/uniprot/P50570", "type": "external" } ], "mass": 98064.0, "length": 870, "protein_name": "Dynamin-2", "gene_name": "DNM2", "organism": "Human", "refseq_name": "dynamin-2 isoform 1", "refseq_ac": [ { "id": "NP_001005360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005360", "type": "external" } ], "gene_names_uniprotkb": "DNM2; DYN2", "gene_names_refseq": "CMT2M; CMTDI1; CMTDIB; DI-CMTB; DNM2; DYN2; DYNII; LCCS5", "protein_names_uniprotkb": "Dynamin-2; 3.6.5.5; Dynamin 2; Dynamin II", "protein_names_refseq": "dynamin II; dynamin-2 isoform 1", "tax_id": 9606, "disease": "lethal congenital contracture syndrome (Disease Ontology:DOID:0060558); lethal congenital contracture syndrome 5 (Disease Ontology:DOID:0061261); Charcot-Marie-Tooth disease dominant intermediate B (Disease Ontology:DOID:0110197); centronuclear myopathy 1 (Disease Ontology:DOID:0111223); microcytic anemia (Disease Ontology:DOID:11252); centronuclear myopathy (Disease Ontology:DOID:14717); cystic kidney disease (Disease Ontology:DOID:2975); myopathy (Disease Ontology:DOID:423); collagen disease (Disease Ontology:DOID:854)", "pathway": " (hsa:1785); (R-HSA-166016); (R-HSA-177504); (R-HSA-190873); (R-HSA-196025); (R-HSA-203641); (R-HSA-2132295); (R-HSA-432720); (R-HSA-432722); (R-HSA-437239); (R-HSA-8856828); (R-HSA-9031628); (R-HSA-9766229)", "pathway_count": 13, "publication_count": 507, "publication_id_list": 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"class_list": "", "function": "BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes., [RefSeq, PubMed]; Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission at plasma membrane during endocytosis and filament remodeling at many actin structures during organization of the actin cytoskeleton (PubMed:15731758, PubMed:19605363, PubMed:19623537, PubMed:33713620, PubMed:34744632). Plays an important role in vesicular trafficking processes, namely clathrin-mediated endocytosis (CME), exocytic and clathrin-coated vesicle from the trans-Golgi network, and PDGF stimulated macropinocytosis (PubMed:15731758, PubMed:19623537, PubMed:33713620). During vesicular trafficking process, associates to the membrane, through lipid binding, and self-assembles into ring-like structure through oligomerization to form a helical polymer around the vesicle membrane and leading to vesicle scission (PubMed:17636067, PubMed:34744632, PubMed:36445308). Plays a role in organization of the actin cytoskeleton by mediating arrangement of stress fibers and actin bundles in podocytes (By similarity). During organization of the actin cytoskeleton, self-assembles into ring-like structure that directly bundles actin filaments to form typical membrane tubules decorated with dynamin spiral polymers (By similarity). Self-assembly increases GTPase activity and the GTP hydrolysis causes the rapid depolymerization of dynamin spiral polymers, and results in dispersion of actin bundles (By similarity). Remodels, through its interaction with CTTN, bundled actin filaments in a GTPase-dependent manner and plays a role in orchestrating the global actomyosin cytoskeleton (PubMed:19605363). The interaction with CTTN stabilizes the interaction of DNM2 and actin filaments and stimulates the intrinsic GTPase activity that results in actin filament-barbed ends and increases the sensitivity of filaments in bundles to the actin depolymerizing factor, CFL1 (By similarity). Plays a role in the autophagy process, by participating in the formation of ATG9A vesicles destined for the autophagosomes through its interaction with SNX18 (PubMed:29437695), by mediating recycling endosome scission leading to autophagosome release through MAP1LC3B interaction (PubMed:29437695, PubMed:32315611). Also regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity). Also plays a role in cytokinesis (By similarity). May participate in centrosome cohesion through its interaction with TUBG1 (By similarity). Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Involved in membrane tubulation (PubMed:24135484)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Dynamin-2 mutations linked to neonatal-onset centronuclear myopathy impair exocytosis and endocytosis in adrenal chromaffin cells., [RefSeq, PubMed]; Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]., [RefSeq]; Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia. Publication Status: Online-Only, [RefSeq, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 9, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K1B6;E7EV30;E9PEQ4;K7ESI9;Q5I0Y0;Q7Z5S3;Q9UPH4", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.22.1", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.4.17.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.22", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0008017 microtubule binding;GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0001891 phagocytic cup;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005813 centrosome", "go_biological_process": "GO:0097749 membrane tubulation;GO:0061572 actin filament bundle organization;GO:0006897 endocytosis;GO:0007165 signal transduction;GO:0031623 receptor internalization", "synthesized_glycan_count": 0, "hit_score": 51.2, "record_id": "P50570-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JVL4-1", "uniprot_id": [ { "id": "EFHC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JVL4", "type": "external" } ], "mass": 73990.0, "length": 640, "protein_name": "EF-hand domain-containing protein 1", "gene_name": "EFHC1", "organism": "Human", "refseq_name": "EF-hand domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001165891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165891", "type": "external" } ], "gene_names_uniprotkb": "EFHC1", "gene_names_refseq": "EFHC1; EJM1; POC9; RIB72; dJ304B14.2", "protein_names_uniprotkb": "EF-hand domain-containing protein 1; Myoclonin-1", "protein_names_refseq": "EF-hand domain (C-terminal) containing 1; EF-hand domain-containing protein 1 isoform 2; EF-hand domain-containing protein 1; myoclonin-1", "tax_id": 9606, "disease": "juvenile absence epilepsy 1 (Disease Ontology:DOID:0111324); juvenile myoclonic epilepsy (Disease Ontology:DOID:4890)", "pathway": " (hsa:114327)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11237011;14582146;15258581;16378686;17159113;17634063;19734894;22690745;22727576;22926142;23481700;25645385;25880248;27846572;27862975;28370826;28832583;28904123;29093164;29242379;29493099;29557506;29632711;30315122;30429286;30484775;31154438;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33181902;33592498;33968037;33969125;34171305;34509645;34932366;35051231;35318648;35580925;36010968;36191189;36284347;38088014;39894887", "class_list": "", "function": "EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk., [RefSeq, PubMed]; Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Microtubule-associated protein which regulates cell division and neuronal migration during cortical development (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581, PubMed:19734894, PubMed:22926142, PubMed:28370826)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Mutation analyses identified five missense mutations in EFHC1 that cosegregated with epilepsy or EEG polyspike wave in affected members of six unrelated families with JME and did not occur in 382 control individuals GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy., [RefSeq, PubMed]; The combination of these polymorphisms could not be found in any control individuals, suggesting that they might be involved in genetic predisposition to migraine in this family. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DMU3;F5GZD8;Q5XKM4;Q6E1U7;Q6E1U8;Q8WUL2;Q9NVW6", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0043025 neuronal cell body;GO:0036126 sperm flagellum;GO:0005930 axoneme", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0021795 cerebral cortex cell migration;GO:0000281 mitotic cytokinesis;GO:0007052 mitotic spindle organization;GO:0060285 cilium-dependent cell motility", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q5JVL4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1Y0-1", "uniprot_id": [ { "id": "ATG5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1Y0", "type": "external" } ], "mass": 32447.0, "length": 275, "protein_name": "Autophagy protein 5", "gene_name": "ATG5", "organism": "Human", "refseq_name": "autophagy protein 5 isoform a", "refseq_ac": [ { "id": "NP_001273035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273035", "type": "external" } ], "gene_names_uniprotkb": "ATG5; APG5L; ASP", "gene_names_refseq": "APG5-LIKE; APG5L; APG5; ASP; ATG5; SCAR25; hAPG5", "protein_names_uniprotkb": "Autophagy protein 5; APG5-like; Apoptosis-specific protein", "protein_names_refseq": "APG5 autophagy 5-like; ATG5 autophagy related 5 homolog; apoptosis-specific protein; autophagy protein 5 isoform a", "tax_id": 9606, "disease": "hereditary ataxia (Disease Ontology:DOID:0050951); autosomal recessive spinocerebellar ataxia 25 (Disease Ontology:DOID:0080259); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); ischemia (Disease Ontology:DOID:326)", "pathway": " (hsa:9474); (R-HSA-1632852); (R-HSA-5205685); (R-HSA-8934903); (R-HSA-936440)", "pathway_count": 5, "publication_count": 136, "publication_id_list": "11096062;11237011;11266458;11825910;12207896;15187094;15576571;15778222;16699525;16715065;16959974;16963840;17618624;17709747;17991829;18057259;18200010;18321988;18439900;19124466;19125153;19211835;19322194;19432818;19590496;19666601;19855179;19881509;19893624;19898463;20059746;20126261;20304918;20434986;20580051;20712405;20713597;20921139;21115803;21177865;21194381;21205641;21258367;21383122;21460621;21575909;21617041;21819378;22170151;22170153;22267086;22342342;22682742;23202584;23685627;23727157;23884233;24191030;24660806;24671035;24714562;24715725;24746696;24747438;24751536;24784582;24954904;25418920;25474007;25484072;25505266;25527497;25568151;25576301;26116755;26365381;26812546;26992070;27035970;27247382;27397612;27617225;27846572;27920218;28228285;28510447;28832583;28834231;29242379;29394115;29493099;29557506;29786170;29995846;30315122;30779550;31092671;31530632;31844290;32161166;32186433;32296703;32350084;32357974;32387766;32488085;32938616;32960676;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34171305;34185709;34357683;34509645;35251023;35580925;36010968;36241641;38287189;38477302;38511768;38530706;38747016;7628435;7796880;9563500;9852036", "class_list": "", "function": "(Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601)., [UniProtKB, PubMed, PubMed]; ATG5 nonautophagically regulates inflammation and differentiation in mouse embryonic stem cells., [RefSeq, PubMed]; Autophagy-related 5 in acute ischemic stroke: Variation and linkage with neurofunction, and survival., [RefSeq, PubMed]; Autophagy-related protein 5 (ATG5) interacts with bone marrow stromal cell antigen 2 (BST2) to stimulate HBV replication through antagonizing the antiviral activity of BST2., [RefSeq, PubMed]; Involved in autophagic vesicle formation., [UniProtKB, UniProtKB, UniProtKB]; Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway. As part of the ATG8 conjugation system with ATG12 and ATG16L1, required for recruitment of LRRK2 to stressed lysosomes and induction of LRRK2 kinase activity in response to lysosomal stress (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Serum autophagy-related gene 5 level in stroke patients: correlation with CD4+ T cells and cognition impairment during a 3-year follow-up. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]., [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": 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": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O60875;Q5JVR2;Q68DI4;Q9H2B8;Q9HCZ7", "ec_number_list": [], "go_molecular_function": "GO:0019776 Atg8-family ligase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:1904973 positive regulation of viral translation;GO:0061684 chaperone-mediated autophagy;GO:0000045 autophagosome assembly;GO:0043066 negative regulation of apoptotic process;GO:0043687 post-translational protein modification", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "Q9H1Y0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92636-1", "uniprot_id": [ { "id": "FAN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92636", "type": "external" } ], "mass": 104372.0, "length": 917, "protein_name": "Protein FAN", "gene_name": "NSMAF", "organism": "Human", "refseq_name": "protein FAN isoform 2", "refseq_ac": [ { "id": "NP_001138244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138244", "type": "external" } ], "gene_names_uniprotkb": "NSMAF; FAN", "gene_names_refseq": "FAN; GRAMD5; NSMAF", "protein_names_uniprotkb": "Protein FAN; Factor associated with N-SMase activation; Factor associated with neutral sphingomyelinase activation", "protein_names_refseq": "factor associated with N-SMase activation; factor associated with neutral sphingomyelinase activation; neutral sphingomyelinase (N-SMase) activation associated factor; protein FAN isoform 2; protein FAN", "tax_id": 9606, "disease": "Chediak-Higashi syndrome (Disease Ontology:DOID:2935)", "pathway": " (hsa:8439); (R-HSA-5626978)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "11237011;11435466;12391233;18452278;20080539;23481700;24366607;24397554;25576301;25892735;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29115933;29242379;29393594;29437277;29557506;29621545;29632046;29632711;29769354;30315122;30379171;30429286;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33592498;33717175;33912179;33968037;34509645;35051231;35154160;35561310;35580925;36010968;36284347;8663014;8808629", "class_list": "", "function": "Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N-smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE., [UniProtKB]; The interaction of FAN with receptor for activated C-kinase 1 (RACK1) appears to be dependent on the folding of the WD repeats into a secondary structure, because no linear binding motifs are identified in the WD-repeat region of FAN., [RefSeq, PubMed]; The rs1050504 C > T genotype was observed to be significantly associated with an increased risk for developing pulmonary tuberculosis. Publication Status: Online-Only, [RefSeq, PubMed]; These data identify a novel caspase-2-interacting factor, FAN, and expand the role for the enzyme in seemingly non-apoptotic cellular mechanisms., [RefSeq, PubMed]; This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 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, "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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "B4DFB0;E9PCH0;Q8IW26", "ec_number_list": [], "go_molecular_function": "GO:0016230 sphingomyelin phosphodiesterase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0006672 ceramide metabolic process;GO:0033209 tumor necrosis factor-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q92636-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N122-1", "uniprot_id": [ { "id": "RPTOR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N122", "type": "external" } ], "mass": 149038.0, "length": 1335, "protein_name": "Regulatory-associated protein of mTOR", "gene_name": "RPTOR", "organism": "Human", "refseq_name": "regulatory-associated protein of mTOR isoform 2", "refseq_ac": [ { "id": "NP_001156506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156506", "type": "external" } ], "gene_names_uniprotkb": "RPTOR; KIAA1303; RAPTOR", "gene_names_refseq": "KOG1; Mip1; RPTOR", "protein_names_uniprotkb": "Regulatory-associated protein of mTOR; Raptor; p150 target of rapamycin (TOR)-scaffold protein", "protein_names_refseq": "p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats; raptor; regulatory-associated protein of mTOR isoform 2", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742)", "pathway": " (hsa:57521); (R-HSA-1632852); (R-HSA-165159); (R-HSA-166208); (R-HSA-3371571); (R-HSA-380972); (R-HSA-5628897); (R-HSA-8943724); (R-HSA-9639288); (R-HSA-9920951)", "pathway_count": 10, "publication_count": 335, "publication_id_list": "10.1101/2023.09.13.557529;10329961;10654941;10716435;10745013;10980602;11018120;11029283;11034341;11096062;11237011;11340051;11378386;11447121;11486029;11545734;11781575;11825910;11959846;12150925;12150926;12151408;12161445;12203114;12408816;12438239;12453409;12524439;12714747;12742462;12747827;12805220;12869586;12906785;13298683;13538944;14511394;14517248;14614828;14651849;14985505;15066126;15105503;15187094;15223;15270074;15302935;15314020;15579580;15589136;15755954;15760475;15809305;15854902;15878852;16098514;16140933;16413492;16418168;16636147;16676006;16702404;16728594;16760263;16839880;16943194;16963840;16964243;17081983;1715244;17216044;17277771;17298220;17386266;17470430;17486094;17510057;17517883;17540029;17618624;17873065;17974977;18172008;18198340;18220336;18321988;18344994;18372248;18391013;18439900;18452278;18487508;18491316;18497260;18604198;18669648;18691976;18692468;18722121;18767875;19113821;19211835;19322194;19346248;19369195;19388141;19413330;19415658;19439913;19440552;19487573;19590496;19651622;19664994;19664995;19690332;19822145;19855179;19864431;19884659;19898463;20058876;20059746;20068231;20080666;20166139;20169205;20182617;20230923;20233713;20351271;20378837;20381137;20516213;20639120;20713597;20921139;21071439;21177865;21205641;21258367;21289308;21325048;21383122;21406692;21460621;21460630;21602892;21750704;21757713;21819378;21958598;22053050;22128185;22170151;22356909;22363791;22493283;22575674;22682742;22768106;22980980;23027611;23186163;23202584;23287862;23685627;23723238;23727157;23775793;23884233;23953116;24036451;24066844;24081491;24095279;24275569;24366607;24366874;24383451;24403073;24718924;24747438;24813396;24954904;24973451;25153728;25259925;25263562;25361081;25418920;25457612;25484072;25561175;25567906;25568151;25576301;25579166;25645385;25728608;25761126;25819761;25892735;25940091;25961827;25963655;26154972;26449471;26586190;26588989;26652033;26811146;26812014;26910647;26972053;26992070;27043084;27108190;27308486;27487210;27600516;27648300;27846572;27862975;27909983;27920218;28066558;28199306;28199315;28218747;28514659;28657654;28832583;28834231;28855257;28904123;29053970;29056322;29123071;29236692;29242379;29331515;29371260;29393594;29437277;29485866;29493099;29508533;29557506;29769354;29786170;30061680;30181260;30197302;30315122;30379171;30410026;30429286;30484775;30524438;30651352;30771309;31112131;31154438;31217245;31530632;31530866;31601708;31601764;31844290;31848261;31998317;32015438;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32561715;32897882;32938616;32938750;32983136;33141586;33298915;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34171305;34185709;34290272;34357683;34509645;34561969;34604061;34725712;35051231;35058442;35254053;35318648;35561222;35580925;35927303;36010968;36215666;36310878;36697823;36735494;37340703;37493735;37541260;37749558;37938771;38010109;38497230;38665916;39388284;40307207;5666113;7499430;7628435;7979252;7989588;8119488;8455624;8549768;8779952;9721431;9926927", "class_list": "", "function": "Association of PI3K/AKT/mTOR pathway autophagy-related gene polymorphisms with pulmonary tuberculosis susceptibility in a Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the mechanistic target of rapamycin complex 1 (mTORC1), an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12150925, PubMed:12150926, PubMed:12747827, PubMed:24403073, PubMed:26588989, PubMed:32561715, PubMed:37541260). In response to nutrients, growth factors or amino acids, mTORC1 is recruited to the lysosome membrane and promotes protein, lipid and nucleotide synthesis by phosphorylating several substrates, such as ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) (PubMed:12150925, PubMed:12150926, PubMed:12747827, PubMed:24403073, PubMed:26588989, PubMed:37541260). In the same time, it inhibits catabolic pathways by phosphorylating the autophagy initiation components ULK1 and ATG13, as well as transcription factor TFEB, a master regulators of lysosomal biogenesis and autophagy (PubMed:12150925, PubMed:12150926, PubMed:12747827, PubMed:24403073, PubMed:32561715, PubMed:37541260). The mTORC1 complex is inhibited in response to starvation and amino acid depletion (PubMed:12150925, PubMed:12150926, PubMed:12747827, PubMed:24403073, PubMed:37541260). Within the mTORC1 complex, RPTOR acts both as a molecular adapter, which (1) mediates recruitment of mTORC1 to lysosomal membranes via interaction with small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD), and a (2) substrate-specific adapter, which promotes substrate specificity by binding to TOS motif-containing proteins and direct them towards the active site of the MTOR kinase domain for phosphorylation (PubMed:12747827, PubMed:24403073, PubMed:26588989, PubMed:37541260). mTORC1 complex regulates many cellular processes, such as odontoblast and osteoclast differentiation or neuronal transmission (By similarity). mTORC1 complex in excitatory neuronal transmission is required for the prosocial behavior induced by the psychoactive substance lysergic acid diethylamide (LSD) (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; MALAT1 DEREPRESSES MIR-433-3P-MEDIATED RPTOR SUPPRESSION TO IMPAIR AUTOPHAGY AND DRIVE PYROPTOSIS IN ENDOTOXEMIA., [RefSeq, PubMed]; Raptor is a missing component of the mTOR pathway that through its association with mTOR regulates cell size in response to nutrient levels, [RefSeq, PubMed]; Raptor mediates the selective inhibitory effect of cardamonin on RRAGC-mutant B cell lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Role of Raptor Gene Variants in Hypertension: Influence on Blood Pressure Independent of Salt Intake in White Population., [RefSeq, PubMed]; This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 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, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 49, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 89, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2RN36;C6KEF2;F5H7J5;Q8N4V9;Q8TB32;Q9P2P3", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0030295 protein kinase activator activity;GO:0044877 protein-containing complex binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:1901331 positive regulation of odontoblast differentiation;GO:0010506 regulation of autophagy;GO:0030307 positive regulation of cell growth;GO:0071333 cellular response to glucose stimulus;GO:0046889 positive regulation of lipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 34.6, "record_id": "Q8N122-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43390-1", "uniprot_id": [ { "id": "HNRPR_HUMAN", "url": "https://www.uniprot.org/uniprot/O43390", "type": "external" } ], "mass": 70943.0, "length": 633, "protein_name": "Heterogeneous nuclear ribonucleoprotein R", "gene_name": "HNRNPR", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein R isoform 1", "refseq_ac": [ { "id": "NP_001095868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095868", "type": "external" } ], "gene_names_uniprotkb": "HNRNPR; HNRPR", "gene_names_refseq": "HNRNPR; HNRPR; NEDDFSB; hnRNP-R", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein R; hnRNP R", "protein_names_refseq": "heterogeneous nuclear ribonucleoprotein R isoform 1", "tax_id": 9606, "disease": "neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (MONDO:MONDO:0859297)", "pathway": " (hsa:10236); (R-HSA-72163); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 5, "publication_count": 216, "publication_id_list": "10669729;10882114;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15565158;15592455;15858414;16314458;16809785;17095540;17128255;17289661;17332742;17606899;17672918;18288197;18322460;18593880;18991276;19103666;19165350;19217410;19536130;19608861;20305658;20423332;20695905;20980672;21295486;21515746;21536652;21740066;2176635;21911577;22110043;22121020;22223895;22365833;22813749;22959432;22961380;23222130;23236153;23345524;23874216;24076191;24149845;24196718;24304693;24316715;24366607;24407421;24448447;24616531;24714562;24715725;24737827;24914973;24981863;25218447;25301780;25301781;25469497;25555158;25576301;2558966;25755297;25772364;25810538;26092250;26154972;26375851;26385511;26420826;26811146;26853435;26969736;26992070;27108190;27377154;27459055;27683217;27846572;27862975;27920218;28062851;28076346;28096519;28228285;28502770;28514659;28781166;28832583;28904123;28911096;29186539;29237092;29242379;29274231;29301961;29360106;29361316;29437277;29493099;29508533;29557506;29632711;2963332;29902443;30139799;30257008;30315122;30315277;30397120;30410026;30599162;30705154;30728453;30765414;30975767;31079900;31217245;31409651;31844290;32119511;32157095;32179686;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32816001;32897882;32938616;32983136;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34301950;34357683;34509645;34561969;34725712;34822310;34932366;35008409;35051231;35083852;35132862;35177536;35215846;35251023;35318648;35385551;35580925;35856391;36010968;36241641;36284347;36581221;37077028;3757028;37938771;38253038;38331110;38665916;39990658;40596516;40914422;8352591;8566756;8608946;9016565;9242493;9409616;9421497;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "Component of ribonucleosomes, which are complexes of at least 20 other different heterogeneous nuclear ribonucleoproteins (hnRNP). hnRNP play an important role in processing of precursor mRNA in the nucleus., [UniProtKB]; HNRNPA2B1 and HNRNPR stabilize ASCL1 in an m6A-dependent manner to promote neuroblastoma progression., [RefSeq, PubMed]; HnRNP R negatively regulates transcription by modulating the association of P-TEFb with 7SK and BRD4., [RefSeq, PubMed]; Pan-cancer analysis of the oncogenic role of HNRNPR in human tumors. Erratum:[Cell Biol Int. 2024 Feb;48(2):229. doi: 10.1002/cbin.12109. PMID: 38084795], [RefSeq, PubMed]; This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]., [RefSeq]; Validated occurrence of an unusual TG 3' splice site in intron 7, [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q2L7G6;Q5TEH1;Q9BV64;S4R3J4", "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:0005681 spliceosomal complex;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0006397 mRNA processing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 22.1, "record_id": "O43390-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y315-1", "uniprot_id": [ { "id": "DEOC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y315", "type": "external" } ], "mass": 35231.0, "length": 318, "protein_name": "Deoxyribose-phosphate aldolase", "gene_name": "DERA", "organism": "Human", "refseq_name": "deoxyribose-phosphate aldolase isoform 1", "refseq_ac": [ { "id": "NP_057038", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057038", "type": "external" } ], "gene_names_uniprotkb": "DERA; CGI-26", "gene_names_refseq": "CGI-26; DEOC; DERA", "protein_names_uniprotkb": "Deoxyribose-phosphate aldolase; 2-deoxy-D-ribose 5-phosphate aldolase; 4.1.2.4; DERA; Deoxyriboaldolase; Phosphodeoxyriboaldolase", "protein_names_refseq": "2-deoxy-D-ribose 5-phosphate aldolase; 2-deoxyribose-5-phosphate aldolase homolog; deoxyriboaldolase; deoxyribose-phosphate aldolase (putative); deoxyribose-phosphate aldolase isoform 1; phosphodeoxyriboaldolase; putative deoxyribose-phosphate aldolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:51071); (R-HSA-6798695); (R-HSA-71336)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10518023;10869557;11237011;11283793;14978097;14988808;17585908;17804405;18186520;18560757;18775706;18991276;20068231;20923965;22682222;23650620;25229427;25576301;2581946;25880248;25892735;26375851;26768311;26992070;27600516;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29769354;29786170;30524438;30833945;31154438;31217245;31530632;31844290;31998317;32157095;32265295;32350084;32357974;32659474;32897882;32983136;33067875;33717175;33968037;34171305;34932366;35051231;35580925;36215666;36241641;3932573;3994686;7396409;8300619;8692836;9357955;9920387", "class_list": "", "function": "A case of pericytic neoplasm in the shoulder with a novel DERA-GLI1 gene fusion., [RefSeq, PubMed]; Catalyzes a reversible aldol reaction between acetaldehyde and D-glyceraldehyde 3-phosphate to generate 2-deoxy-D-ribose 5-phosphate. Participates in stress granule (SG) assembly. May allow ATP production from extracellular deoxyinosine in conditions of energy deprivation., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Genetic variants in TKT and DERA in the nicotinamide adenine dinucleotide phosphate pathway predict melanoma survival., [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": 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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "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": "Q53HN9;Q6PHW2", "ec_number_list": [ { "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", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": 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"type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0004139 deoxyribose-phosphate aldolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0034774 secretory granule lumen;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0006098 pentose-phosphate shunt;GO:0016052 carbohydrate catabolic process;GO:0046121 deoxyribonucleoside catabolic process;GO:0046386 deoxyribose phosphate catabolic process;GO:0009264 deoxyribonucleotide catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9Y315-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51946-1", "uniprot_id": [ { "id": "CCNH_HUMAN", "url": "https://www.uniprot.org/uniprot/P51946", "type": "external" } ], "mass": 37643.0, "length": 323, "protein_name": "Cyclin-H", "gene_name": "CCNH", "organism": "Human", "refseq_name": "cyclin-H isoform 1", "refseq_ac": [ { "id": "NP_001230", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230", "type": "external" } ], "gene_names_uniprotkb": "CCNH", "gene_names_refseq": "CAK; CCNH; CycH; p34; p37", "protein_names_uniprotkb": "Cyclin-H; MO15-associated protein; p34; p37", "protein_names_refseq": "CAK complex subunit; CDK-activating kinase complex subunit; MO15-associated protein; cyclin-H isoform 1; cyclin-dependent kinase-activating kinase complex subunit", "tax_id": 9606, "disease": "transient cerebral ischemia (Disease Ontology:DOID:224)", "pathway": " (hsa:902); (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-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)", "pathway_count": 35, "publication_count": 368, "publication_id_list": 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"class_list": "", "function": "Component of the CDK-activating kinase (CAK) complex, a master regulator of CDK activity by catalyzing the activating threonine phosphorylation of CDKs (PubMed:41100585). Binds and activates cyclin-dependent protein kinase CDK7, the catalytic subunit of CAK (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 repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts (PubMed:7533895, PubMed:10024882). Involved in cell cycle control and in RNA transcription by RNA polymerase II (PubMed:7533895, PubMed:10024882). Its expression and activity are constant throughout the cell cycle., [UniProtKB, PubMed, PubMed, PubMed]; Cytomegalovirus cyclin-dependent kinase ortholog vCDK/pUL97 undergoes regulatory interaction with human cyclin H and CDK7 to codetermine viral replication efficiency., [RefSeq, PubMed]; Regulates CDK7, the catalytic subunit of the CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throughout the cell cycle., [UniProtKB, UniProtKB, 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 CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010]., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53X72;Q8TBL9", "ec_number_list": [], "go_molecular_function": "GO:0016301 kinase activity;GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005675 transcription factor TFIIH holo complex;GO:0070985 transcription factor TFIIK complex;GO:0000439 transcription factor TFIIH core complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0050821 protein stabilization;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006289 nucleotide-excision repair;GO:2000045 regulation of G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 37.3, "record_id": "P51946-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDY2-1", "uniprot_id": [ { "id": "RBCC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDY2", "type": "external" } ], "mass": 183091.0, "length": 1594, "protein_name": "RB1-inducible coiled-coil protein 1", "gene_name": "RB1CC1", "organism": "Human", "refseq_name": "RB1-inducible coiled-coil protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001077086", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077086", "type": "external" } ], "gene_names_uniprotkb": "RB1CC1; KIAA0203; RBICC", "gene_names_refseq": "ATG17; CC1; FIP200; PPP1R131; RB1CC1", "protein_names_uniprotkb": "RB1-inducible coiled-coil protein 1; FAK family kinase-interacting protein of 200 kDa; FIP200", "protein_names_refseq": "200 kDa FAK family kinase-interacting protein; FAK family kinase-interacting protein of 200 kDa; RB1-inducible coiled-coil protein 1 isoform 2; RB1-inducible coiled-coil protein 1; phosphatase 1, regulatory subunit 131", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612)", "pathway": " (hsa:9821); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 114, "publication_id_list": "10769033;11096062;11237011;11825910;11850849;12068296;12095676;12163359;12221124;14533007;15187094;16963840;17081983;17224074;17618624;18321988;18439900;18452278;18669648;18691976;19211835;19322194;19413330;19590496;19597335;19651622;19664994;19664995;19690332;19855179;19898463;20059746;20068231;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21775823;21819378;22170151;22682742;23043107;23186163;23202584;23262492;23289756;23392225;23481700;23685627;23727157;23884233;24747438;24954904;25484072;25568151;25576301;25645385;25880248;26992070;27334615;27846572;27869121;28228285;28561066;28649982;28832583;28834231;28890335;28904123;29242379;29317506;29557506;29786170;30315122;30524438;31020640;31844290;32157095;32350084;32357974;32387766;32938616;32983136;33124732;33141586;33226137;33298915;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34185709;34357683;34405274;34471133;34509645;35051231;35154160;35251023;35580925;36010968;36241641;36284347;37137886;37615536;37938771;38821350;7628435", "class_list": "", "function": "FIP200 Phosphorylation Regulates Late Steps in Mitophagy., [RefSeq, PubMed]; Involved in autophagy (PubMed:21775823). Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1 (PubMed:23392225). Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) during S.typhimurium infection and subsequent xenophagy (By similarity). Involved in repair of DNA damage caused by ionizing radiation, which subsequently improves cell survival by decreasing apoptosis (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinase activity, affecting their downstream signaling pathways (PubMed:10769033, PubMed:12221124). Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111 (By similarity). Functions as a DNA-binding transcription factor (PubMed:12095676). Is a potent regulator of the RB1 pathway through induction of RB1 expression (PubMed:14533007). Plays a crucial role in muscular differentiation (PubMed:12163359). Plays an indispensable role in fetal hematopoiesis and in the regulation of neuronal homeostasis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Involved in autophagy. Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1. Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) during S.typhimurium infection and subsequent xenophagy. Involved in repair of DNA damage caused by ionizing radiation, which subsequently improves cell survival by decreasing apoptosis. Inhibits PTK2/FAK1 and PTK2B/PYK2 kinase activity, affecting their downstream signaling pathways. Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111. Functions as a DNA-binding transcription factor. Is a potent regulator of the RB1 pathway through induction of RB1 expression. Plays a crucial role in muscular differentiation. Plays an indispensable role in fetal hematopoiesis and in the regulation of neuronal homeostasis., [UniProtKB, UniProtKB]; Loss of function of FIP200 in human pluripotent stem cell-derived neurons leads to axonal pathology and hyperactivity. Publication Status: Online-Only, [RefSeq, PubMed]; METTL14 inhibits malignant progression of oral squamous cell carcinoma by targeting the autophagy-related gene RB1CC1 in an m6A-IGF2BP2-dependent manner., [RefSeq, PubMed]; RB1CC1 is frequently mutated in breast cancer and shows characteristics of a classical tumor-suppressor gene., [RefSeq, PubMed]; The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 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, "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": 26, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "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": "Q86YR4;Q8WVU9;Q92601", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019901 protein kinase binding;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005764 lysosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0016236 macroautophagy;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q8TDY2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68CK6-1", "uniprot_id": [ { "id": "ACS2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68CK6", "type": "external" } ], "mass": 64271.0, "length": 577, "protein_name": "Acyl-coenzyme A synthetase ACSM2B, mitochondrial", "gene_name": "ACSM2B", "organism": "Human", "refseq_name": "acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_001098539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098539", "type": "external" } ], "gene_names_uniprotkb": "ACSM2B; ACSM2; HYST1046", "gene_names_refseq": "ACSM2B; ACSM2; HXMA; HYST1046", "protein_names_uniprotkb": "Acyl-coenzyme A synthetase ACSM2B, mitochondrial; 6.2.1.25; 6.2.1.2; Acyl-CoA synthetase medium-chain family member 2B; Benzoate--CoA ligase; Butyrate--CoA ligase 2B; Butyryl-coenzyme A synthetase 2B; Middle-chain acyl-CoA synthetase 2B; Xenobiotic/medium-chain fatty acid-CoA ligase HXM-A", "protein_names_refseq": "acyl-CoA synthetase medium-chain family member 2; acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform 1; acyl-coenzyme A synthetase ACSM2B, mitochondrial; benzoate--CoA ligase; butyrate--CoA ligase 2B; butyryl-coenzyme A synthetase 2B; middle-chain acyl-CoA synthetase 2B; xenobiotic/medium-chain fatty acid-CoA ligase HXM-A; xenobiotic/medium-chain fatty acid:CoA ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:348158); (R-HSA-177128); (R-HSA-177135); (R-HSA-177162); (R-HSA-9749641)", "pathway_count": 5, "publication_count": 36, "publication_id_list": "10220572;10434065;11237011;11470804;11581266;12616642;13741103;15221005;16258079;16837570;16858120;16943252;17482904;1783992;19634011;19836360;20679960;22674043;24275569;25840124;27351777;28677105;29948332;31154438;3342084;3705620;5013373;5773090;5862532;6777177;6838677;7206363;7802672;9144407;931988;975718", "class_list": "", "function": "Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (PubMed:10434065, PubMed:12616642). Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. benzoate (PubMed:10434065, PubMed:12616642)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This study assessed the naturally observed sequence diversity and protein expression variation of ACSM2A and ACSM2B. The allelic variation, haplotype diversity, Tajima's D values, and phylogenetic analyses indicated that ACSM2A and ACSM2B are highly conserved.The protein expression analyses showed that ACSM2A is the predominant transcript in liver., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "Q86YT1", "ec_number_list": [ { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.2", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "6.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.25", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" }, { "id": "6.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.1", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0102391 decanoate-CoA ligase activity;GO:0004321 fatty-acyl-CoA synthase activity;GO:0015645 fatty acid ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006637 acyl-CoA metabolic process;GO:0006633 fatty acid biosynthetic process;GO:0006805 xenobiotic metabolic process;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q68CK6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QF0-1", "uniprot_id": [ { "id": "RAB3I_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QF0", "type": "external" } ], "mass": 53021.0, "length": 476, "protein_name": "Rab-3A-interacting protein", "gene_name": "RAB3IP", "organism": "Human", "refseq_name": "rab-3A-interacting protein isoform A", "refseq_ac": [ { "id": "NP_001019818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019818", "type": "external" } ], "gene_names_uniprotkb": "RAB3IP; RABIN8", "gene_names_refseq": "RAB3IP; RABIN3; RABIN8", "protein_names_uniprotkb": "Rab-3A-interacting protein; Rab3A-interacting protein; Rabin-3; Rabin8; SSX2-interacting protein", "protein_names_refseq": "SSX2 interacting protein; rab-3A-interacting protein isoform A; rab-3A-interacting protein; rab3A-interacting protein; rabin-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:117177); (R-HSA-5620912); (R-HSA-5620916); (R-HSA-5620922); (R-HSA-8876198)", "pathway_count": 5, "publication_count": 289, "publication_id_list": "10818110;10990452;11038176;11179213;11237011;11252952;11516400;11689439;11703925;11746448;11784320;11917121;12007189;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;15158452;1516130;15247254;15258860;15314642;15388334;15528189;15561770;15692570;15728366;15878329;15914536;15958533;16038802;16136078;16155582;16207721;16357211;16373702;16410077;16431365;16525024;16525121;16537653;16571673;16641372;16754960;16782012;16880209;16950109;17007872;17030804;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17628206;17646400;17671165;17678623;17719545;17956946;18037885;18076383;18094055;18220336;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18669648;18685082;18694559;18701652;18779367;18801063;18804435;1900457;19004860;19017632;19081074;19109890;19153612;19297529;19345684;19403694;19413330;19421068;19454479;19490898;19575670;19620288;19656848;19725050;19729655;19745841;19940019;20008558;20068231;20080638;20083215;20154091;20159109;20159556;20230748;20233871;20305638;20308558;20399632;20404108;20434987;20558667;20592283;20603001;20797862;20851765;20890297;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21422230;21427764;21445324;21458671;21532587;21548880;21550243;21554507;21565611;21586568;21620453;21683469;21706022;21718402;21725307;21775626;21776405;21792235;21951725;22013193;22065758;22072793;22072986;22139371;22159412;22171327;22179047;22365832;22389062;22420621;22433857;22445341;22500027;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23141531;23141541;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23253480;23263280;23295650;23301498;23333653;23348840;23351085;23351793;23357852;23378591;23400999;23420520;23444368;23478338;23530209;23567335;23645161;23678941;23684622;23713133;23747070;23769972;23789104;23839779;23945166;24053599;24089205;24231678;24296415;24469809;24644286;24694596;24719330;24891604;24917561;24967941;24982133;25047611;25074980;25313408;25341920;25343031;25443296;25446516;25472813;25648148;25673879;25713415;25925668;26055712;26177209;26245486;26258637;26434594;26538022;26824392;26925400;26936971;27041585;27044746;27103185;27246931;27329675;27920218;28832583;28855257;28904123;29242379;29557506;30379171;30524438;30779550;31204173;31467083;31844290;32157095;32357974;33092268;33208053;33912179;34357683;35051231;36241641;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780;9819391", "class_list": "", "function": "Guanine nucleotide exchange factor (GEF) which may activate RAB8A and RAB8B (PubMed:12221131, PubMed:26824392). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:12221131, PubMed:26824392). Mediates the release of GDP from RAB8A and RAB8B but not from RAB3A or RAB5 (PubMed:20937701, PubMed:26824392). Modulates actin organization and promotes polarized transport of RAB8A-specific vesicles to the cell surface (PubMed:12221131). Together with RAB11A, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (PubMed:20890297). Part of the ciliary targeting complex containing Rab11, ASAP1, RAB3IP and RAB11FIP3 and ARF4 that promotes RAB3IP preciliary vesicle trafficking to mother centriole and ciliogenesis initiation (PubMed:25673879, PubMed:31204173)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; LINC00943 knockdown attenuates MPP(+)-induced neuronal damage via miR-15b-5p/RAB3IP axis in SK-N-SH cells., [RefSeq, PubMed]; RABIN3 interacts with the cancer-related protein SSX2 and a novel nuclear protein, SSX2IP., [RefSeq, PubMed]; Rab8 and Rabin8-Mediated Tumor Formation by Hyperactivated EGFR Signaling via FGFR Signaling. 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, "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": 9, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 3, "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": "B7WPJ6;Q6PCE4;Q96A24;Q96QE6;Q96QE7;Q96QE8;Q96QE9;Q96QF1;Q9H673", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0051020 GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0030027 lamellipodium", "go_biological_process": "GO:0015031 protein transport;GO:0006612 protein targeting to membrane;GO:0097711 ciliary basal body-plasma membrane docking;GO:0060271 cilium assembly;GO:0051490 negative regulation of filopodium assembly", "synthesized_glycan_count": 0, "hit_score": 29.2, "record_id": "Q96QF0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKU7-1", "uniprot_id": [ { "id": "ACAD8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKU7", "type": "external" } ], "mass": 45070.0, "length": 415, "protein_name": "Isobutyryl-CoA dehydrogenase, mitochondrial", "gene_name": "ACAD8", "organism": "Human", "refseq_name": "isobutyryl-CoA dehydrogenase, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_055199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055199", "type": "external" } ], "gene_names_uniprotkb": "ACAD8; ARC42; IBD", "gene_names_refseq": "ACAD-8; ACAD8; ARC42; IBDH", "protein_names_uniprotkb": "Isobutyryl-CoA dehydrogenase, mitochondrial; 1.3.8.5; ACAD-8; ARC42; Activator-recruited cofactor 42 kDa component; Acyl-CoA dehydrogenase family member 8; IBDH", "protein_names_refseq": "activator-recruited cofactor 42 kDa component; acyl-Coenzyme A dehydrogenase family, member 8; isobutyryl-CoA dehydrogenase, mitochondrial isoform 2; isobutyryl-CoA dehydrogenase, mitochondrial", "tax_id": 9606, "disease": "isobutyryl-CoA dehydrogenase deficiency (MONDO:MONDO:0012648)", "pathway": " (hsa:27034); (R-HSA-70895); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10.1101/2023.09.13.557529;10235267;10524212;10832746;10947204;11013134;11181649;11237011;11264579;11406611;11738050;11923310;12198491;12269802;12359132;12434311;12696021;13416257;14623864;14752098;15166214;1527093;15342248;15505379;15522782;15576032;15870080;16023992;16115876;16141215;16857760;17101804;17297443;17371050;17579211;19841671;20877624;22262461;22291014;22710082;22956686;23201127;23481700;23485643;23931759;24315374;24449431;24520911;24635911;25418920;26251176;26504172;26923599;27496948;27642048;28377575;28396416;28514659;29242379;29301859;29932645;30120231;30315122;30429286;3082934;31327635;31435015;31695197;31844290;32157095;32938616;33257573;33936100;34087483;34357683;34561969;34704252;34943861;35870450;3597357;36284347;36629048;6928646;7356336;7623837;8824301;9165094;9214289;9889013", "class_list": "", "function": "First enzymatic and molecular confirmation of a deficiency of this enzyme in a patient, [RefSeq, PubMed]; Isobutyryl-CoA dehydrogenase which catalyzes the conversion of 2-methylpropanoyl-CoA to (2E)-2-methylpropenoyl-CoA in the valine catabolic pathway (PubMed:11013134, PubMed:12359132, PubMed:16857760). To a lesser extent, also able to catalyze the oxidation of (2S)-2-methylbutanoyl-CoA (PubMed:11013134, PubMed:12359132)., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]., [RefSeq]; We discovered a novel c.1156_1158delCAG mutation in ACAD8 in patients with isobutyryl-CoA dehydrogenase deficiency , and investigated the mutation spectrum of ACAD8., [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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z5W4;Q6ZWP6;Q9BUS8", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "1.1.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.41", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "3.4.21.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.92", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" } ], "go_molecular_function": "GO:0003995 acyl-CoA dehydrogenase activity;GO:0050660 flavin adenine dinucleotide binding;GO:0003853 short-chain 2-methyl fatty acyl-CoA dehydrogenase activity;GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006629 lipid metabolic process;GO:0006574 L-valine catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q9UKU7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVL2-1", "uniprot_id": [ { "id": "NUP58_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVL2", "type": "external" } ], "mass": 60897.0, "length": 599, "protein_name": "Nucleoporin p58/p45", "gene_name": "NUP58", "organism": "Human", "refseq_name": "nucleoporin p58/p45 isoform b", "refseq_ac": [ { "id": "NP_001008564", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008564", "type": "external" } ], "gene_names_uniprotkb": "NUP58; KIAA0410; NUPL1", "gene_names_refseq": "NUP45; NUP58; NUPL1; PRO2463", "protein_names_uniprotkb": "Nucleoporin p58/p45; 58 kDa nucleoporin; Nucleoporin-like protein 1", "protein_names_refseq": "58 kDa nucleoporin; nucleoporin 58kDa; nucleoporin like 1; nucleoporin p58/p45 isoform b; nucleoporin p58/p45; nucleoporin-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9818)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;19651622;20068231;20305658;21300897;21740066;22121020;23186163;23301498;24275569;24715725;25645385;26992070;27543614;27655845;27920218;28218747;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29557506;29632711;29789417;30315122;30397120;30429286;30573663;30779550;31154438;31844290;31848261;31937595;31998317;32119511;32157095;32350084;32357974;32870666;32938616;32983136;33141586;33214551;33298915;33537174;33936100;33968037;34019948;34171305;34528284;34561969;34725712;35051231;35289036;35580925;36010968;36241641;38665916;39531497;39534244;40596516;40914422;41018975;7531196", "class_list": "", "function": "Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane., [UniProtKB, UniProtKB]; Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene., [RefSeq, PubMed]; The human gene NUPL1 shares 87% sequence identity with rat nucleoporin p58., [RefSeq, PubMed]; This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [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, "reported_n_glycosites": 0, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 70, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 70, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 70, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 93, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 70, "binding_glycan_count": 0, "secondary_ac_list": "A6NI12;B4DZJ1;O43160;Q5JRG2;Q5JRG5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0017056 structural constituent of nuclear pore;GO:0008139 nuclear localization sequence binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0015031 protein transport;GO:0051028 mRNA transport;GO:0042306 regulation of protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "Q9BVL2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y305-1", "uniprot_id": [ { "id": "ACOT9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y305", "type": "external" } ], "mass": 49902.0, "length": 439, "protein_name": "Acyl-coenzyme A thioesterase 9, mitochondrial", "gene_name": "ACOT9", "organism": "Human", "refseq_name": "acyl-coenzyme A thioesterase 9, mitochondrial isoform b precursor", "refseq_ac": [ { "id": "NP_001028755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028755", "type": "external" } ], "gene_names_uniprotkb": "ACOT9; CGI-16", "gene_names_refseq": "ACATE2; ACOT9; CGI-16; MT-ACT48; MTACT48", "protein_names_uniprotkb": "Acyl-coenzyme A thioesterase 9, mitochondrial; 3.1.2.-; 3.1.2.2; Acyl-CoA thioester hydrolase 9; Acyl-CoA thioesterase 9", "protein_names_refseq": "acyl-CoA thioester hydrolase 9; acyl-Coenzyme A thioesterase 2, mitochondrial; acyl-coenzyme A thioesterase 9, mitochondrial isoform b precursor; mitochondrial Acyl-CoA Thioesterase", "tax_id": 9606, "disease": "", "pathway": " (hsa:23597); (R-HSA-77289)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "11237011;11696000;12882974;15638818;16423998;16934754;16940157;17762044;17953517;18268358;18772397;19170545;19608861;20338778;20470824;21237683;22465940;22586271;22871024;23700546;23901139;24080521;24732803;25002576;25418920;25505266;25802875;26290611;28218747;28510447;28832583;29242379;29437277;30315122;31844290;32488085;32938616;32983136;33298915;33592498;33968037;34405274;35051231;35494241;35580925;36010968;38665916;4721607;8241273", "class_list": "", "function": "Mitochondrial acyl-CoA thioesterase. Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoA), regulating their respective intracellular levels. Regulates both mitochondrial lipid and amino acid metabolism., [UniProtKB, UniProtKB]; The protein encoded by this gene is a mitochondrial acyl-CoA thioesterase of unknown function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "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": "B3KNC9;B7ZM94", "ec_number_list": [ { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "2.3.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.65", "type": "external" }, { "id": "3.5.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.6", "type": "external" }, { "id": "3.1.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.14", "type": "external" } ], "go_molecular_function": "GO:0003986 acetyl-CoA hydrolase activity;GO:0047617 fatty acyl-CoA hydrolase activity;GO:0052689 carboxylic ester hydrolase activity;GO:0052816 long-chain fatty acyl-CoA hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0001676 long-chain fatty acid metabolic process;GO:0006637 acyl-CoA metabolic process;GO:0046459 short-chain fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9Y305-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6DKK2-1", "uniprot_id": [ { "id": "TTC19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6DKK2", "type": "external" } ], "mass": 42457.0, "length": 380, "protein_name": "Tetratricopeptide repeat protein 19, mitochondrial", "gene_name": "TTC19", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 19, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001258349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258349", "type": "external" } ], "gene_names_uniprotkb": "TTC19", "gene_names_refseq": "2010204O13Rik; MC3DN2; TTC19", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 19, mitochondrial; TPR repeat protein 19", "protein_names_refseq": "TPR repeat protein 19; tetratricopeptide repeat protein 19, mitochondrial isoform 2; tetratricopeptide repeat protein 19, mitochondrial", "tax_id": 9606, "disease": "mitochondrial complex III deficiency nuclear type 2 (Disease Ontology:DOID:0060351)", "pathway": " (hsa:54902); (R-HSA-9865881)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "11237011;20112406;20208530;21278747;23168492;23481700;23532514;24385928;24397554;24714562;25008109;25418920;25576301;25605331;25645385;26154972;26758079;26811146;26929215;26992070;27600516;27862975;27920218;28218747;28228285;28288130;28380382;28673544;28832583;28834231;28844695;28904123;29242379;29243944;29393594;29437277;29508533;29557506;29632046;29632711;30429286;30833945;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32929120;32938616;32983136;33066754;33141586;33592498;33912179;33968037;33981976;34171305;34969438;35051231;35580925;36010968;36284347", "class_list": "", "function": "Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets. Publication Status: Online-Only, [RefSeq, PubMed]; Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1 (PubMed:21278747, PubMed:28673544). Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity (PubMed:28673544)., [UniProtKB, PubMed, PubMed]; TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies., [RefSeq, PubMed]; The mutation resulted in almost complete absence of TTC19 protein, defective assembly of CIII in muscle, and enhanced production of reactive oxygen species in cultured skin fibroblasts., [RefSeq, PubMed]; This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 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, "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": 0, "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": "A8MZ52;B3KP62;B4DN65;Q2M248;Q7L3U8;Q9H6G3;Q9NXB2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005813 centrosome;GO:0030496 midbody", "go_biological_process": "GO:0000281 mitotic cytokinesis;GO:0022904 respiratory electron transport chain;GO:0034551 mitochondrial respiratory chain complex III assembly", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q6DKK2-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49407-1", "uniprot_id": [ { "id": "ARRB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P49407", "type": "external" } ], "mass": 47066.0, "length": 418, "protein_name": "Beta-arrestin-1", "gene_name": "ARRB1", "organism": "Human", "refseq_name": "beta-arrestin-1 isoform A", "refseq_ac": [ { "id": "NP_004032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004032", "type": "external" } ], "gene_names_uniprotkb": "ARRB1; ARR1", "gene_names_refseq": "ARB1; ARR1; ARRB1", "protein_names_uniprotkb": "Beta-arrestin-1; Arrestin beta-1; Non-visual arrestin-2", "protein_names_refseq": "arrestin 2; beta-arrestin-1 isoform A; non-visual arrestin-2", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); sensorineural hearing loss (Disease Ontology:DOID:10003); major depressive disorder (Disease Ontology:DOID:1470); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:408); (R-HSA-2122948); (R-HSA-418555); (R-HSA-432720); (R-HSA-432722); (R-HSA-456926); (R-HSA-5635838); (R-HSA-5674135); (R-HSA-5689880); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9839389)", "pathway_count": 18, "publication_count": 584, "publication_id_list": 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"class_list": "", "function": "Functions in regulating agonist-mediated G protein-coupled receptor (GPCR) signaling by mediating both receptor desensitization and resensitization processes (PubMed:37209686, PubMed:38175886, PubMed:40384633). During homologous desensitization, beta-arrestins bind to the GPCR-phosphorylated receptor and sterically preclude its coupling to the cognate G protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalization by acting as endocytic adapters (CLASPs, clathrin-associated sorting proteins) and recruiting the GPRCs to the adapter protein 2 complex 2 (AP-2) in clathrin-coated pits (CCPs). However, the extent of beta-arrestin involvement appears to vary significantly depending on the receptor, agonist and cell type. Internalized arrestin-receptor complexes traffic to intracellular endosomes, where they remain uncoupled from G proteins. Two different modes of arrestin-mediated internalization occur. Class A receptors, like ADRB2, OPRM1, ENDRA, D1AR and ADRA1B dissociate from beta-arrestin at or near the plasma membrane and undergo rapid recycling. Class B receptors, like AVPR2, AGTR1, NTSR1, TRHR and TACR1 internalize as a complex with arrestin and traffic with it to endosomal vesicles, presumably as desensitized receptors, for extended periods of time. Receptor resensitization then requires that receptor-bound arrestin is removed so that the receptor can be dephosphorylated and returned to the plasma membrane. Involved in internalization of P2RY4 and UTP-stimulated internalization of P2RY2. Involved in phosphorylation-dependent internalization of OPRD1 ands subsequent recycling. Involved in the degradation of cAMP by recruiting cAMP phosphodiesterases to ligand-activated receptors. Beta-arrestins function as multivalent adapter proteins that can switch the GPCR from a G protein signaling mode that transmits short-lived signals from the plasma membrane via small molecule second messengers and ion channels to a beta-arrestin signaling mode that transmits a distinct set of signals that are initiated as the receptor internalizes and transits the intracellular compartment. Acts as a signaling scaffold for MAPK pathways such as MAPK1/3 (ERK1/2). ERK1/2 activated by the beta-arrestin scaffold is largely excluded from the nucleus and confined to cytoplasmic locations such as endocytic vesicles, also called beta-arrestin signalosomes. Recruits c-Src/SRC to ADRB2 resulting in ERK activation. GPCRs for which the beta-arrestin-mediated signaling relies on both ARRB1 and ARRB2 (codependent regulation) include ADRB2, F2RL1 and PTH1R. For some GPCRs the beta-arrestin-mediated signaling relies on either ARRB1 or ARRB2 and is inhibited by the other respective beta-arrestin form (reciprocal regulation). Inhibits ERK1/2 signaling in AGTR1- and AVPR2-mediated activation (reciprocal regulation). Is required for SP-stimulated endocytosis of NK1R and recruits c-Src/SRC to internalized NK1R resulting in ERK1/2 activation, which is required for the antiapoptotic effects of SP. Is involved in proteinase-activated F2RL1-mediated ERK activity. Acts as a signaling scaffold for the AKT1 pathway. Is involved in alpha-thrombin-stimulated AKT1 signaling. Is involved in IGF1-stimulated AKT1 signaling leading to increased protection from apoptosis. Involved in activation of the p38 MAPK signaling pathway and in actin bundle formation. Involved in F2RL1-mediated cytoskeletal rearrangement and chemotaxis. Involved in AGTR1-mediated stress fiber formation by acting together with GNAQ to activate RHOA. Appears to function as signaling scaffold involved in regulation of MIP-1-beta-stimulated CCR5-dependent chemotaxis. Involved in attenuation of NF-kappa-B-dependent transcription in response to GPCR or cytokine stimulation by interacting with and stabilizing CHUK. May serve as nuclear messenger for GPCRs. Involved in OPRD1-stimulated transcriptional regulation by translocating to CDKN1B and FOS promoter regions and recruiting EP300 resulting in acetylation of histone H4. Involved in regulation of LEF1 transcriptional activity via interaction with DVL1 and/or DVL2 Also involved in regulation of receptors other than GPCRs. Involved in Toll-like receptor and IL-1 receptor signaling through the interaction with TRAF6 which prevents TRAF6 autoubiquitination and oligomerization required for activation of NF-kappa-B and JUN. Binds phosphoinositides. Binds inositolhexakisphosphate (InsP6) (By similarity). Involved in IL8-mediated granule release in neutrophils. Required for atypical chemokine receptor ACKR2-induced RAC1-LIMK1-PAK1-dependent phosphorylation of cofilin (CFL1) and for the up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. Involved in the internalization of the atypical chemokine receptor ACKR3. Involved in smoothened (SMO) localization to primary cilium (By similarity). Negatively regulates the NOTCH signaling pathway by mediating the ubiquitination and degradation of NOTCH1 by ITCH (PubMed:23886940). Participates in the recruitment of the ubiquitin-protein ligase to the receptor (PubMed:23886940). Involved in some MRGPRE-mediated signaling required to improve glucose tolerance: promotes phosphorylation of ALDOA downstream of MRGPRE activation, increasing glycolysis and leading to GLP-1 secretion (PubMed:40446798)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011]., [RefSeq]; Roles of the gate loop in beta-arrestin-1 conformational dynamics and phosphorylated receptor interaction., [RefSeq, PubMed]; The beta-arrestin1/endothelin axis bolsters ovarian fibroblast-dependent invadosome activity and cancer cell metastatic potential. 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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B6V9G8;O75625;O75630;Q2PP20;Q9BTK8", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003713 transcription coactivator activity;GO:0004857 enzyme inhibitor activity;GO:0005096 GTPase activator activity;GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007166 cell surface receptor signaling pathway;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 59.4, "record_id": "P49407-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0C7-1", "uniprot_id": [ { "id": "AMRA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0C7", "type": "external" } ], "mass": 142507.0, "length": 1298, "protein_name": "Activating molecule in BECN1-regulated autophagy protein 1", "gene_name": "AMBRA1", "organism": "Human", "refseq_name": "activating molecule in BECN1-regulated autophagy protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001254711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254711", "type": "external" } ], "gene_names_uniprotkb": "AMBRA1; DCAF3; KIAA1736", "gene_names_refseq": "AMBRA1; DCAF3; WDR94", "protein_names_uniprotkb": "Activating molecule in BECN1-regulated autophagy protein 1; DDB1- and CUL4-associated factor 3", "protein_names_refseq": "DDB1 and CUL4 associated factor 3; WD repeat domain 94; activating molecule in BECN1-regulated autophagy protein 1 isoform 1; activating molecule in BECN1-regulated autophagy protein 1; activating molecule in beclin-1-regulated autophagy; autophagy/beclin-1 regulator 1", "tax_id": 9606, "disease": "multiple system atrophy (Disease Ontology:DOID:4752)", "pathway": " (hsa:55626); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 137, "publication_id_list": "10.1101/2023.09.13.557529;11096062;11237011;11825910;15187094;16949367;16963840;17589504;17618624;18321988;18439900;18669648;18691976;19211835;19322194;19590496;19690332;19855179;19898463;20059746;20068231;20713597;20921139;21177865;21205641;21258367;21358617;21383122;21460621;21753002;21819378;22170151;22441670;22682742;23186163;23202584;23481700;23524951;23685627;23727157;23884233;23954414;24397554;24587252;24715725;24747438;24954904;25215947;25418920;25438055;25484072;25499913;25505266;25568151;25576301;25645385;25803737;26154972;26375851;26811146;26992070;27846572;27920218;28059583;28218747;28228285;28657654;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29508533;29557506;29632046;29632711;30059200;30166453;30217973;30315122;30379171;30410026;30429286;30513302;30524438;30779550;31123703;31217245;31492838;31844290;32157095;32333458;32357974;32387766;32488085;32502341;32616651;32897882;32938616;32938750;32983136;33141586;33298915;33592498;33854232;33854235;33854239;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34561969;34932366;35051231;35254053;35289036;35561310;35580925;36010968;36284347;37541260;37584777;38497391;38665916;38870061;39207901;39436665;39531497;39534244;40307207;7628435", "class_list": "", "function": "AMBRA1 controls the translation of immune-specific genes in T lymphocytes., [RefSeq, PubMed]; AMBRA1 levels predict resistance to MAPK inhibitors in melanoma., [RefSeq, PubMed]; Sh- Ambra1 inhibits IRS-1/PI3K/Akt signalling pathway to reduce autophagy in gestational diabetes., [RefSeq, PubMed]; Substrate-recognition component of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex involved in cell cycle control and autophagy (PubMed:20921139, PubMed:23524951, PubMed:24587252, PubMed:32333458, PubMed:33854232, PubMed:33854235, PubMed:33854239). The DCX(AMBRA1) complex specifically mediates the polyubiquitination of target proteins such as BECN1, CCND1, CCND2, CCND3, ELOC and ULK1 (PubMed:23524951, PubMed:33854232, PubMed:33854235, PubMed:33854239). Acts as an upstream master regulator of the transition from G1 to S cell phase: AMBRA1 specifically recognizes and binds phosphorylated cyclin-D (CCND1, CCND2 and CCND3), leading to cyclin-D ubiquitination by the DCX(AMBRA1) complex and subsequent degradation (PubMed:33854232, PubMed:33854235, PubMed:33854239). By controlling the transition from G1 to S phase and cyclin-D degradation, AMBRA1 acts as a tumor suppressor that promotes genomic integrity during DNA replication and counteracts developmental abnormalities and tumor growth (PubMed:33854232, PubMed:33854235, PubMed:33854239). AMBRA1 also regulates the cell cycle by promoting MYC dephosphorylation and degradation independently of the DCX(AMBRA1) complex: acts via interaction with the catalytic subunit of protein phosphatase 2A (PPP2CA), which enhances interaction between PPP2CA and MYC, leading to MYC dephosphorylation and degradation (PubMed:25438055, PubMed:25803737). Acts as a regulator of Cul5-RING (CRL5) E3 ubiquitin-protein ligase complexes by mediating ubiquitination and degradation of Elongin-C (ELOC) component of CRL5 complexes (PubMed:25499913, PubMed:30166453). Acts as a key regulator of autophagy by modulating the BECN1-PIK3C3 complex: controls protein turnover during neuronal development, and regulates normal cell survival and proliferation (PubMed:21358617). In normal conditions, AMBRA1 is tethered to the cytoskeleton via interaction with dyneins DYNLL1 and DYNLL2 (PubMed:20921139). Upon autophagy induction, AMBRA1 is released from the cytoskeletal docking site to induce autophagosome nucleation by mediating ubiquitination of proteins involved in autophagy (PubMed:20921139). The DCX(AMBRA1) complex mediates 'Lys-63'-linked ubiquitination of BECN1, increasing the association between BECN1 and PIK3C3 to promote PIK3C3 activity (By similarity). In collaboration with TRAF6, AMBRA1 mediates 'Lys-63'-linked ubiquitination of ULK1 following autophagy induction, promoting ULK1 stability and kinase activity (PubMed:23524951). Also activates ULK1 via interaction with TRIM32: TRIM32 stimulates ULK1 through unanchored 'Lys-63'-linked polyubiquitin chains (PubMed:31123703). Also acts as an activator of mitophagy via interaction with PRKN and LC3 proteins (MAP1LC3A, MAP1LC3B or MAP1LC3C); possibly by bringing damaged mitochondria onto autophagosomes (PubMed:21753002, PubMed:25215947). Also activates mitophagy by acting as a cofactor for HUWE1; acts by promoting HUWE1-mediated ubiquitination of MFN2 (PubMed:30217973). AMBRA1 is also involved in regulatory T-cells (Treg) differentiation by promoting FOXO3 dephosphorylation independently of the DCX(AMBRA1) complex: acts via interaction with PPP2CA, which enhances interaction between PPP2CA and FOXO3, leading to FOXO3 dephosphorylation and stabilization (PubMed:30513302). May act as a regulator of intracellular trafficking, regulating the localization of active PTK2/FAK and SRC (By similarity). Also involved in transcription regulation by acting as a scaffold for protein complexes at chromatin (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The ULK1 effector BAG2 regulates autophagy initiation by modulating AMBRA1 localization., [RefSeq, 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": 1, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A6XN33;D3DQP8;G3V193;Q86XD6;Q9H8Z0;Q9NXE7", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0051020 GTPase binding;GO:0019903 protein phosphatase binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0072542 protein phosphatase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:1901526 positive regulation of mitophagy;GO:0000045 autophagosome assembly;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q9C0C7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTE6-1", "uniprot_id": [ { "id": "AASD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTE6", "type": "external" } ], "mass": 45480.0, "length": 412, "protein_name": "Alanyl-tRNA editing protein Aarsd1", "gene_name": "AARSD1; PTGES3L-AARSD1", "organism": "Human", "refseq_name": "alanyl-tRNA editing protein Aarsd1", "refseq_ac": [ { "id": "NP_001248363", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248363", "type": "external" } ], "gene_names_uniprotkb": "AARSD1; PTGES3L-AARSD1", "gene_names_refseq": "AARSD1; AlaXp", "protein_names_uniprotkb": "Alanyl-tRNA editing protein Aarsd1; Alanyl-tRNA synthetase domain-containing protein 1", "protein_names_refseq": "alanyl-tRNA editing protein Aarsd1; alanyl-tRNA synthetase domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100885850); (hsa:80755)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11237011;23186163;25576301;26884463;26992070;28228285;28510447;28514659;28832583;28855257;28904123;29242379;29632046;29786170;30192525;30315122;31217245;31844290;31998317;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33691108;33912179;33936100;33968037;34171305;34509645;35051231;35580925;38665916;40914422", "class_list": "", "function": "Aarsd1 inhibits the activity of a paradigmatic Hsp90 client protein. Publication Status: Online-Only, [RefSeq, PubMed]; Cytosolic prostaglandin synthase that catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). Molecular chaperone that localizes to genomic response elements in a hormone-dependent manner and disrupts receptor-mediated transcriptional activation, by promoting disassembly of transcriptional regulatory complexes. Facilitates HIF alpha proteins hydroxylation via interaction with EGLN1/PHD2, leading to recruit EGLN1/PHD2 to the HSP90 pathway., [UniProtKB, UniProtKB]; Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala)., [UniProtKB]", "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "B4DI73", "ec_number_list": [ { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0003676 nucleic acid binding;GO:0002196 Ser-tRNA(Ala) deacylase activity;GO:0004813 alanine-tRNA ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006419 alanyl-tRNA aminoacylation;GO:0006450 regulation of translational fidelity;GO:0006412 translation;GO:0043039 tRNA aminoacylation;GO:0001516 prostaglandin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9BTE6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40123-1", "uniprot_id": [ { "id": "CAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P40123", "type": "external" } ], "mass": 52824.0, "length": 477, "protein_name": "Adenylyl cyclase-associated protein 2", "gene_name": "CAP2", "organism": "Human", "refseq_name": "adenylyl cyclase-associated protein 2 isoform 1", "refseq_ac": [ { "id": "NP_006357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006357", "type": "external" } ], "gene_names_uniprotkb": "CAP2", "gene_names_refseq": "CAP2; CMD2I", "protein_names_uniprotkb": "Adenylyl cyclase-associated protein 2; CAP 2", "protein_names_refseq": "2810452G09Rik; CAP 2; CAP, adenylate cyclase-associated protein, 2; adenylyl cyclase-associated protein 2 isoform 1; adenylyl cyclase-associated protein 2", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); cardiomyopathy, dilated, 2I (MONDO:MONDO:0957545)", "pathway": " (hsa:10486); (R-HSA-428890)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10892742;11237011;17000669;17287340;20068231;22223895;24275569;24715725;25418920;25576301;27846572;28510447;30192525;30518548;31844290;32157095;32211793;32387766;32488085;32938616;33083013;33592498;33968037;33981976;34294609;34509645;34725712;34862840;35008409;35051231;35163460;35580925;36010968;36241641;36284347;36580660;37537790;38846945;7962207", "class_list": "", "function": "An association study of cyclase-associated protein 2 and frailty., [RefSeq, PubMed]; Analysis of mRNA and Protein Levels of CAP2, DLG1 and ADAM10 Genes in Post-Mortem Brain of Schizophrenia, Parkinson's and Alzheimer's Disease Patients. Publication Status: Online-Only, [RefSeq, PubMed]; CAP2 contributes to Parkinson's disease diagnosed by neutrophil extracellular trap-related immune activity. Publication Status: Online-Only, [RefSeq, PubMed]; CAP2 is up-regulated in human cancers and that is possibly related to multistage hepatocarcinogenesis., [RefSeq, PubMed]; Endoplasmic Reticulum Stress Induces CAP2 Expression Promoting Epithelial-Mesenchymal Transition in Liver Cancer Cells., [RefSeq, PubMed]; Involved in the regulation of actin polymerization., [UniProtKB, PubMed]; This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]., [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": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R5Y3;B7Z1C4;B7Z214;Q6IAY2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0042802 identical protein binding;GO:0008179 adenylate cyclase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0014069 postsynaptic density", "go_biological_process": "GO:0007015 actin filament organization;GO:0007165 signal transduction;GO:0007190 activation of adenylate cyclase activity;GO:0000902 cell morphogenesis;GO:0007163 establishment or maintenance of cell polarity", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P40123-1", "record_type": "protein", "filter_code": "0001000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60510-1", "uniprot_id": [ { "id": "PP4C_HUMAN", "url": "https://www.uniprot.org/uniprot/P60510", "type": "external" } ], "mass": 35080.0, "length": 307, "protein_name": "Serine/threonine-protein phosphatase 4 catalytic subunit", "gene_name": "PPP4C", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 4 catalytic subunit isoform 1", "refseq_ac": [ { "id": "NP_001290432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290432", "type": "external" } ], "gene_names_uniprotkb": "PPP4C; PPP4; PPX", "gene_names_refseq": "PP-X; PP4C; PP4; PPH3; PPP4C; PPP4; PPX", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 4 catalytic subunit; 3.1.3.16; PP-X; PP4C; Pp4; Protein phosphatase X", "protein_names_refseq": "epididymis secretory sperm binding protein; protein phosphatase 4 (formerly X), catalytic subunit; protein phosphatase X, catalytic subunit; serine/threonine-protein phosphatase 4 catalytic subunit isoform 1; serine/threonine-protein phosphatase 4 catalytic subunit", "tax_id": 9606, "disease": "oligoasthenoteratozoospermia (Disease Ontology:DOID:0070311); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)", "pathway": " (hsa:5531); (R-HSA-5693607)", "pathway_count": 2, "publication_count": 134, "publication_id_list": "10.1101/2023.09.13.557529;10859164;11080452;11139606;11237011;11301010;11376695;11390642;11698396;12152085;12545175;12578958;12668731;12791985;12934076;1336397;14576433;15189136;15190204;15331607;15707391;15805470;16085932;16148040;16153896;16327781;16360315;16530042;16885023;17575048;17928296;17965729;18171670;18347064;18487071;18614045;18715871;18758438;18805091;18923075;18971343;19357644;19419957;20154705;20233725;21052091;21240188;21263215;21325134;21335604;21659603;21680713;21777809;22021381;22024395;22223895;22231403;22424782;22635276;22661229;22661230;22792074;22977173;23345434;23468639;24715725;25113031;25122754;25130464;25505266;25558984;25659039;26811146;26992070;27846572;28904123;29437277;29493099;29557506;30410026;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34725712;34932366;35051231;35154160;35318648;35580925;36010968;36172813;36241641;36284347;36581221;37759442;37906628;37938771;38424148;38665916;39026674;40914422;9705271;9837938", "class_list": "", "function": "AMBRA1 promotes intestinal inflammation by antagonizing PP4R1/PP4c mediated IKK dephosphorylation in an autophagy-independent manner., [RefSeq, PubMed]; Comprehensive analysis of PPP4C's impact on prognosis, immune microenvironment, and immunotherapy response in lung adenocarcinoma using single-cell sequencing and multi-omics. Publication Status: Online-Only, [RefSeq, PubMed]; DOK3 promotes atopic dermatitis by enabling the phosphatase PP4C to inhibit the T cell signaling mediator CARD11., [RefSeq, PubMed]; Protein Phosphatase 4 Is Required for Centrobin Function in DNA Damage Repair. Publication Status: Online-Only, [RefSeq, PubMed]; Protein phosphatase that is involved in many processes such as microtubule organization at centrosomes, maturation of spliceosomal snRNPs, apoptosis, DNA repair, tumor necrosis factor (TNF)-alpha signaling, activation of c-Jun N-terminal kinase MAPK8, regulation of histone acetylation, DNA damage checkpoint signaling, NF-kappa-B activation and cell migration. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AX phosphorylated on Ser-140 (gamma-H2AX) generated during DNA replication and required for DNA double strand break repair. Dephosphorylates NDEL1 at CDK1 phosphorylation sites and negatively regulates CDK1 activity in interphase (By similarity). In response to DNA damage, catalyzes RPA2 dephosphorylation, an essential step for DNA repair since it allows the efficient RPA2-mediated recruitment of RAD51 to chromatin., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P33172", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0000724 double-strand break repair via homologous recombination;GO:0010569 regulation of double-strand break repair via homologous recombination;GO:2000779 regulation of double-strand break repair", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P60510-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHQ1-1", "uniprot_id": [ { "id": "CEP70_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHQ1", "type": "external" } ], "mass": 69752.0, "length": 597, "protein_name": "Centrosomal protein of 70 kDa", "gene_name": "CEP70", "organism": "Human", "refseq_name": "centrosomal protein of 70 kDa isoform 2", "refseq_ac": [ { "id": "NP_001275893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275893", "type": "external" } ], "gene_names_uniprotkb": "CEP70; BITE", "gene_names_refseq": "BITE; CEP70", "protein_names_uniprotkb": "Centrosomal protein of 70 kDa; Cep70; p10-binding protein", "protein_names_refseq": "centrosomal protein 70kDa; centrosomal protein of 70 kDa isoform 2; centrosomal protein of 70 kDa; p10-binding protein; testicular tissue protein Li 36", "tax_id": 9606, "disease": "", "pathway": " (hsa:80321); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 84, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;21795687;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24714562;24982133;25047611;25313408;25532896;27920218;28834231;32157095;32387766;32502341;33402344;33936100;33968037;33980814;34509645;36967801;37647218;38122899;7769006;7790358;8838651", "class_list": "", "function": "BiTE secretion by adoptively transferred stem-like T cells improves FRalpha+ ovarian cancer control., [RefSeq, PubMed]; Identification of biallelic variations of CEP70 in patients with male infertility. Publication Status: Online-Only, [RefSeq, PubMed]; Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters., [RefSeq, PubMed]; Loss of CEP70 function affects acrosome biogenesis and flagella formation during spermiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the organization of both preexisting and nascent microtubules in interphase cells. During mitosis, required for the organization and orientation of the mitotic spindle., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 6, "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": "B7Z5I8;B7Z7E8;D3DNE9;F5GZX8;Q96B31;Q9H2C3;Q9H2Z1;Q9H940", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0043015 gamma-tubulin binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005815 microtubule organizing center", "go_biological_process": "GO:0060271 cilium assembly;GO:0070507 regulation of microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q8NHQ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2G4-1", "uniprot_id": [ { "id": "TSYL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2G4", "type": "external" } ], "mass": 79435.0, "length": 693, "protein_name": "Testis-specific Y-encoded-like protein 2", "gene_name": "TSPYL2", "organism": "Human", "refseq_name": "testis-specific Y-encoded-like protein 2", "refseq_ac": [ { "id": "NP_071400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071400", "type": "external" } ], "gene_names_uniprotkb": "TSPYL2; CDA1; DENTT; HRIHFB2216; TSPX", "gene_names_refseq": "CDA1; CINAP; CTCL; DENTT; HRIHFB2216; NP79; SE204; TSPX; TSPYL2", "protein_names_uniprotkb": "Testis-specific Y-encoded-like protein 2; CTCL-associated antigen se20-4; Cell division autoantigen 1; Cutaneous T-cell lymphoma-associated antigen se20-4; Differentially-expressed nucleolar TGF-beta1 target protein; NP79; Nuclear protein of 79 kDa; TSPY-like protein 2", "protein_names_refseq": "CASK-interacting nucleosome assembly protein; CTCL tumor antigen se20-4; CTCL-associated antigen se20-4; TSPY-like protein 2; cell division autoantigen 1; cutaneous T-cell lymphoma-associated antigen se20-4; cutaneous T-cell lymphoma-associated tumor antigen se20-4; differentially expressed nucleolar TGF-beta1 target; differentially-expressed nucleolar TGF-beta1 target protein; nuclear protein of 79 kDa; testis-specific Y-encoded-like protein 2; testis-specific protein Y encoded-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64061); (R-HSA-381038)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10601334;10827079;11149944;11237011;11318608;11395479;12204115;12393179;15069065;15241014;15466936;15823505;16461360;16539657;17081983;17317670;18664523;18669648;19651622;20068231;21282569;23481700;24714562;24715725;26529358;26728094;26992070;27862975;27920218;28228285;28832583;29242379;29314611;29331515;29493099;29508533;29557506;29632711;29786170;30429286;30484775;31092671;31530632;31844290;31848261;32157095;32502341;32897882;32938616;32983136;33691108;33936100;33968037;34171305;34211107;34932366;35051231;35192400;36010968;36215666;36241641;36284347;36918555;37696385;38170390;38588050;7590364;8666242;9037597;9450183;9473480;9853615", "class_list": "", "function": "A tumor-suppressing role of TSPYL2 in thyroid cancer: Through interacting with SIRT1 and repressing SIRT1/AKT pathway., [RefSeq, PubMed]; CRL2[APPBP2]-mediated TSPYL2 degradation counteracts human mesenchymal stem cell senescence., [RefSeq, PubMed]; Part of the CASK/TBR1/TSPYL2 transcriptional complex which modulates gene expression in response to neuronal synaptic activity, probably by facilitating nucleosome assembly. May inhibit cell proliferation by inducing p53-dependent CDKN1A expression., [UniProtKB, PubMed, PubMed]; Sex specific regulation of TSPY-Like 2 in the DNA damage response of cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; TSPYL1 as a Critical Regulator of TGFbeta Signaling through Repression of TGFBR1 and TSPYL2., [RefSeq, PubMed]; TSPYL2 reduced gefitinib resistance and DNA damage repair via suppressing SIRT1-mediated FOXO3 deacetylation., [RefSeq, PubMed]; This gene encodes a member of the testis-specific protein Y-encoded, TSPY-like/SET/nucleosome assembly protein-1 superfamily. The encoded protein is localized to the nucleolus where it functions in chromatin remodeling and as an inhibitor of cell-cycle progression. This protein may play a role in the suppression of tumor growth. [provided by RefSeq, Sep 2009]., [RefSeq]; This paper characterizes monkey DENTT cDNA and makes a comparison with human and mouse DENTT, [RefSeq, 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, "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": 10, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O94799;Q96DG7;Q9BZW6", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding;GO:0000182 rDNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030308 negative regulation of cell growth;GO:0009966 regulation of signal transduction;GO:0006334 nucleosome assembly;GO:0045786 negative regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9H2G4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17612-1", "uniprot_id": [ { "id": "KAPCA_HUMAN", "url": "https://www.uniprot.org/uniprot/P17612", "type": "external" } ], "mass": 40590.0, "length": 351, "protein_name": "cAMP-dependent protein kinase catalytic subunit alpha", "gene_name": "PRKACA", "organism": "Human", "refseq_name": "cAMP-dependent protein kinase catalytic subunit alpha isoform 3", "refseq_ac": [ { "id": "NP_001291278", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291278", "type": "external" } ], "gene_names_uniprotkb": "PRKACA; PKACA", "gene_names_refseq": "CAFD1; PKACA; PPNAD4; PRKACA", "protein_names_uniprotkb": "cAMP-dependent protein kinase catalytic subunit alpha; 2.7.11.11; PKA C-alpha", "protein_names_refseq": "PKA C-alpha; cAMP-dependent protein kinase catalytic subunit alpha isoform 3; protein kinase A catalytic subunit; protein kinase, cAMP-dependent, alpha catalytic subunit; protein kinase, cAMP-dependent, catalytic, alpha", "tax_id": 9606, "disease": "adrenal cortical adenoma (Disease Ontology:DOID:0050891); primary pigmented nodular adrenocortical disease 4 (Disease Ontology:DOID:0070549); alcohol use disorder (Disease Ontology:DOID:1574); brain ischemia (Disease Ontology:DOID:2316); fibrolamellar carcinoma (Disease Ontology:DOID:5015); congestive heart failure (Disease Ontology:DOID:6000); amphetamine abuse (Disease Ontology:DOID:670); cardioacrofacial dysplasia 1 (MONDO:MONDO:0030876)", "pathway": " (hsa:5566); (R-HSA-111931); (R-HSA-163358); (R-HSA-163560); (R-HSA-163615); (R-HSA-164378); (R-HSA-180024); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-381676); (R-HSA-392517); (R-HSA-422356); (R-HSA-432040); (R-HSA-4420097); (R-HSA-442720); (R-HSA-512988); (R-HSA-5578775); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5610787); (R-HSA-5620912); (R-HSA-5621575); (R-HSA-5687128); (R-HSA-8853659); (R-HSA-8854518); (R-HSA-8963896); (R-HSA-9010642); (R-HSA-9022535); (R-HSA-9022692); (R-HSA-9634597); (R-HSA-9634600); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-983231); (R-HSA-9837999); (R-HSA-9856530)", "pathway_count": 40, "publication_count": 843, "publication_id_list": 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"class_list": "", "function": "Genetic alterations of the catalytic subunit of PKA were found to be associated with bilateral adrenal hyperplasias and unilateral cortisol-producing adrenal adenomas., [RefSeq, PubMed]; Increased Protein Kinase A Activity Induces Fibrolamellar Hepatocellular Carcinoma Features Independent of DNAJB1., [RefSeq, PubMed]; Phosphorylates a large number of substrates in the cytoplasm and the nucleus (PubMed:15642694, PubMed:15905176, PubMed:16387847, PubMed:17333334, PubMed:17565987, PubMed:17693412, PubMed:18836454, PubMed:19949837, PubMed:20356841, PubMed:21085490, PubMed:21514275, PubMed:21812984, PubMed:21852232, PubMed:31112131, PubMed:41652173). Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, histone H1.4 (H1-4), PSMC5/RPT6, PJA2, RYR2, RORA, SLC6A6, SOX9, UHRF1 and VASP (PubMed:15178447, PubMed:15642694, PubMed:15905176, PubMed:16387847, PubMed:17333334, PubMed:17565987, PubMed:17693412, PubMed:18836454, PubMed:19949837, PubMed:20356841, PubMed:21085490, PubMed:21514275, PubMed:21812984, PubMed:41652173). Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis (PubMed:21423175). RORA is activated by phosphorylation (PubMed:21514275). Required for glucose-mediated adipogenic differentiation increase and osteogenic differentiation inhibition from osteoblasts (PubMed:19949837). Involved in chondrogenesis by mediating phosphorylation of SOX9 (By similarity). Involved in the regulation of platelets in response to thrombin and collagen; maintains circulating platelets in a resting state by phosphorylating proteins in numerous platelet inhibitory pathways when in complex with NF-kappa-B (NFKB1 and NFKB2) and I-kappa-B-alpha (NFKBIA), but thrombin and collagen disrupt these complexes and free active PRKACA stimulates platelets and leads to platelet aggregation by phosphorylating VASP (PubMed:15642694, PubMed:20356841). Prevents the antiproliferative and anti-invasive effects of alpha-difluoromethylornithine in breast cancer cells when activated (PubMed:17333334). RYR2 channel activity is potentiated by phosphorylation in presence of luminal Ca(2+), leading to reduced amplitude and increased frequency of store overload-induced Ca(2+) release (SOICR) characterized by an increased rate of Ca(2+) release and propagation velocity of spontaneous Ca(2+) waves, despite reduced wave amplitude and resting cytosolic Ca(2+) (PubMed:17693412). PSMC5/RPT6 activation by phosphorylation stimulates proteasome (PubMed:17565987). Negatively regulates tight junctions (TJs) in ovarian cancer cells via CLDN3 phosphorylation (PubMed:15905176). NFKB1 phosphorylation promotes NF-kappa-B p50-p50 DNA binding (PubMed:15642694). Acts as a key inhibitor of smoothened signaling pathway by mediating phosphorylation of GLI (GLI1, GLI2 and GLI3) transcription factors in absence of hedgehog (DHH, IHH or SHH) morphogens: GLI phosphorylation promotes their processing and prevents transcriptional activation of smoothened target genes (PubMed:16705181). GLI transcription factor phosphorylation is inhibited by interaction of PRKACA with SMO which sequesters PRKACA at the cell membrane (PubMed:36202993, PubMed:39138140). Also inhibits the smoothened signaling pathway in embryonic development by catalyzing phosphorylation of OFD1 in ciliogenesis (PubMed:33934390). Prevents meiosis resumption in prophase-arrested oocytes via CDC25B inactivation by phosphorylation (By similarity). May also regulate rapid eye movement (REM) sleep in the pedunculopontine tegmental (PPT) (By similarity). Phosphorylates APOBEC3G and AICDA (PubMed:16387847, PubMed:18836454). Phosphorylates HSF1; this phosphorylation promotes HSF1 nuclear localization and transcriptional activity upon heat shock (PubMed:21085490). Acts as a negative regulator of mTORC1 by mediating phosphorylation of RPTOR (PubMed:31112131). Phosphorylates AKAP19 (PubMed:27028580)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Phosphorylates and activates ABL1 in sperm flagellum to promote spermatozoa capacitation., [UniProtKB, UniProtKB]; This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including differentiation, proliferation, and apoptosis. Constitutive activation of this gene caused either by somatic mutations, or genomic duplications of regions that include this gene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing's syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms. [provided by RefSeq, Jan 2015]., [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": 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": 19, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q32P54;Q9H2Y0;Q9NRB4;Q9NRH9", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "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" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "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": "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": "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:0019870 potassium channel inhibitor activity;GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:1904539 negative regulation of glycolytic process through fructose-6-phosphate;GO:0032703 negative regulation of interleukin-2 production;GO:0003091 renal water homeostasis;GO:0006397 mRNA processing;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 84.6, "record_id": "P17612-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26196-1", "uniprot_id": [ { "id": "DDX6_HUMAN", "url": "https://www.uniprot.org/uniprot/P26196", "type": "external" } ], "mass": 54417.0, "length": 483, "protein_name": "Probable ATP-dependent RNA helicase DDX6", "gene_name": "DDX6", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX6 isoform 1", "refseq_ac": [ { "id": "NP_001244120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244120", "type": "external" } ], "gene_names_uniprotkb": "DDX6; HLR2; RCK", "gene_names_refseq": "DDX6; HLR2; IDDILF; P54; RCK; Rck/p54", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX6; 3.6.4.13; ATP-dependent RNA helicase p54; DEAD box protein 6; Oncogene RCK", "protein_names_refseq": "ATP-dependent RNA helicase p54; DEAD (Asp-Glu-Ala-Asp) box helicase 6; DEAD (Asp-Glu-Ala-Asp) box polypeptide 6; DEAD box protein 6; DEAD box-6; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD); oncogene RCK; probable ATP-dependent RNA helicase DDX6 isoform 1; probable ATP-dependent RNA helicase DDX6", "tax_id": 9606, "disease": "congenital stationary night blindness 1B (Disease Ontology:DOID:0110865); intellectual developmental disorder with impaired language and dysmorphic facies (MONDO:MONDO:0032851)", "pathway": " (hsa:1656); (R-HSA-430039)", "pathway_count": 2, "publication_count": 136, "publication_id_list": "11283721;12218187;12417715;12486012;12515382;12923261;1394235;14684915;14749774;15085179;15231747;15475613;15711010;1579499;16051491;16141059;16246173;16299471;16364915;16699599;17245413;17525332;18039849;19061636;19239894;19279404;19285948;19901323;20068230;20616046;21740066;22424782;22915799;22967762;23125361;23209657;23783831;24190977;24366607;24714562;24715725;25576301;25645385;25810538;25995375;26027925;26098573;26154972;26184334;26489469;26728094;26811146;26992070;27342281;27397612;27600516;27846572;27862975;27920218;28063628;28216671;28218747;28228285;28510447;28832583;28834231;28855257;28904123;29242379;29317506;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30429286;30484775;30524438;31217245;31422817;31439631;31844290;32157095;32265295;32350084;32354837;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34725712;35051231;35138101;35154160;35254053;35318648;35561310;35580925;36010968;36241641;36284347;37217939;37938771;38377944;38536035;38551642;38665916;38834947;40596516", "class_list": "", "function": "DDX6 is involved in the pathogenesis of inflammatory diseases via NF-kappaB activation., [RefSeq, PubMed]; DDX6 modulates P-body and stress granule assembly, composition, and docking., [RefSeq, PubMed]; Essential for the formation of P-bodies, cytosolic membrane-less ribonucleoprotein granules involved in RNA metabolism through the coordinated storage of mRNAs encoding regulatory functions (PubMed:25995375, PubMed:27342281, PubMed:31422817). Plays a role in P-bodies to coordinate the storage of translationally inactive mRNAs in the cytoplasm and prevent their degradation (PubMed:27342281). In the process of mRNA degradation, plays a role in mRNA decapping (PubMed:16364915). Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degradation of their transcripts (PubMed:26098573)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Rab3B enhances the stabilization of DDX6 to promote lung adenocarcinoma aggressiveness. Publication Status: Online-Only, [RefSeq, PubMed]; The DDX6/KIFC1 signaling axis, as regulated by YY1, contributes to the malignant behavior of pancreatic cancer., [RefSeq, PubMed]; This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 11, "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": "Q5D048", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005524 ATP binding;GO:0019904 protein domain specific binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0001520 outer dense fiber;GO:0097227 sperm annulus;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0019074 viral RNA genome packaging;GO:0017148 negative regulation of translation;GO:0035278 miRNA-mediated gene silencing by inhibition of translation;GO:0033962 P-body assembly", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "P26196-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q719H9-1", "uniprot_id": [ { "id": "KCTD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q719H9", "type": "external" } ], "mass": 29405.0, "length": 257, "protein_name": "BTB/POZ domain-containing protein KCTD1", "gene_name": "KCTD1", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD1 isoform a", "refseq_ac": [ { "id": "NP_001129677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129677", "type": "external" } ], "gene_names_uniprotkb": "KCTD1; C18orf5", "gene_names_refseq": "C18orf5; DNRD; KCTD1; RMDA", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD1; Potassium channel tetramerization domain-containing protein 1", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD1 isoform a; BTB/POZ domain-containing protein KCTD1", "tax_id": 9606, "disease": "dental radicular dysplasia (Disease Ontology:DOID:0070724); scalp-ear-nipple syndrome (Disease Ontology:DOID:0111550)", "pathway": " (hsa:284252); (R-HSA-8866904)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "11237011;15345747;15548692;15561718;18358072;18452278;18669648;19115315;19651622;20068231;23382213;23541344;25218447;25645385;25772364;25880248;25892735;26334369;26375851;29557506;30429286;30779550;31154438;31222486;31324836;31844290;31848261;32157095;32357974;32938616;32983136;33000225;33298915;33440155;33592498;33883917;33968037;33981976;34932366;35051231;35318648;35580925;36241641;36284347;38113115;38791218;39111466;39191250;39424163;41086914", "class_list": "", "function": "Genetic Variants in KCTD1 Are Associated with Isolated Dental Anomalies. Publication Status: Online-Only, [RefSeq, PubMed]; Indicate the novel function of KCTD1 as the transcriptional repressor for AP-2 family, especially for AP-2alpha, [RefSeq, PubMed]; Is a regulator of different signaling pathways. Up-regulates ADCY5 thereby enhancing cAMP signaling, and is involved in the negative regulation of Wnt canonical, Hh and Notch signaling (PubMed:41086914). Is a repressor of transcriptional activation mediated by AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent (PubMed:18358072, PubMed:19115315, PubMed:33000225)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis. Publication Status: Online-Only, [RefSeq, PubMed]; Magnesium and Calcium Homeostasis Depend on KCTD1 Function in the Distal Nephron., [RefSeq, PubMed]; Mutations in KCTD1 cause scalp-ear-nipple syndrome., [RefSeq, PubMed]; Structural studies of KCTD1 and its disease-causing mutant P20S provide insights into the protein function and misfunction., [RefSeq, PubMed]; This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]., [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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K1F5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0003714 transcription corepressor activity;GO:0008134 transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0051260 protein homooligomerization;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q719H9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q63ZY3-1", "uniprot_id": [ { "id": "KANK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q63ZY3", "type": "external" } ], "mass": 91174.0, "length": 851, "protein_name": "KN motif and ankyrin repeat domain-containing protein 2", "gene_name": "KANK2", "organism": "Human", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001129663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129663", "type": "external" } ], "gene_names_uniprotkb": "KANK2; ANKRD25; KIAA1518; MXRA3; SIP", "gene_names_refseq": "ANKRD25; KANK2; MXRA3; NPHS16; PPKWH; SIP", "protein_names_uniprotkb": "KN motif and ankyrin repeat domain-containing protein 2; Ankyrin repeat domain-containing protein 25; Matrix-remodeling-associated protein 3; SIP; SRC-1-interacting protein; SRC-interacting protein; SRC1-interacting protein", "protein_names_refseq": "KN motif and ankyrin repeat domain-containing protein 2 isoform 2; KN motif and ankyrin repeat domain-containing protein 2; SRC-interacting protein; SRC1-interacting protein; ankyrin repeat domain-containing protein 25; kidney ankyrin repeat-containing protein 2; matrix-remodeling-associated protein 3; steroid receptor coactivator interacting protein", "tax_id": 9606, "disease": "palmoplantar keratoderma and woolly hair (Disease Ontology:DOID:0070554); nephrotic syndrome type 16 (Disease Ontology:DOID:0080272); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:25959)", "pathway_count": 1, "publication_count": 95, "publication_id_list": "11237011;17074750;17081983;17476305;17525332;17996375;18669648;18991276;19369195;20068231;20112406;20720434;22371500;22544926;23186163;23481700;24129315;24275569;24671081;24714562;24715725;25418920;25576301;25645385;25961457;26154972;26375851;26811146;26992070;27397612;27600516;27846572;27862975;28228285;28514659;28649982;28657654;28832583;28834231;28860189;28904123;29183992;29242379;29393594;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;30779550;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33836029;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34274317;34405274;34509645;34932366;35051231;35254053;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37460977;37938771;38665916;39531497", "class_list": "", "function": "Involved in transcription regulation by sequestering in the cytoplasm nuclear receptor coactivators such as NCOA1, NCOA2 and NCOA3 (PubMed:17476305). Involved in regulation of caspase-independent apoptosis by sequestering the proapoptotic factor AIFM1 in mitochondria (PubMed:22371500). Pro-apoptotic stimuli can induce its proteasomal degradation allowing the translocation of AIFM1 to the nucleus to induce apoptosis (PubMed:22371500). Involved in the negative control of vitamin D receptor signaling pathway (PubMed:24671081). Involved in actin stress fibers formation through its interaction with ARHGDIA and the regulation of the Rho signaling pathway (PubMed:17996375, PubMed:25961457). May thereby play a role in cell adhesion and migration, regulating for instance podocytes migration during development of the kidney (PubMed:25961457). Through the Rho signaling pathway may also regulate cell proliferation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Nephrotic-syndrome-associated mutation of KANK2 induces pathologic binding competition with physiological interactor KIF21A., [RefSeq, PubMed]; SIP, a novel ankyrin repeat containing protein, sequesters steroid receptor coactivators in the cytoplasm., [RefSeq, PubMed]; Talin2 and KANK2 functionally interact to regulate microtubule dynamics, paclitaxel sensitivity and cell migration in the MDA-MB-435S melanoma cell line. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]., [RefSeq]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B0I1P4;Q3KQZ3;Q6GUF5;Q9H8S4;Q9NUP0;Q9P210", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0070563 negative regulation of vitamin D receptor signaling pathway;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q63ZY3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSK0-1", "uniprot_id": [ { "id": "KLC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSK0", "type": "external" } ], "mass": 68640.0, "length": 619, "protein_name": "Kinesin light chain 4", "gene_name": "KLC4", "organism": "Human", "refseq_name": "kinesin light chain 4 isoform a", "refseq_ac": [ { "id": "NP_001275963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275963", "type": "external" } ], "gene_names_uniprotkb": "KLC4; KNSL8", "gene_names_refseq": "CONDRHN; KLC4; KNSL8; bA387M24.3", "protein_names_uniprotkb": "Kinesin light chain 4; KLC 4; Kinesin-like protein 8", "protein_names_refseq": "kinesin light chain 4 isoform a; kinesin-like protein 8", "tax_id": 9606, "disease": "Alzheimer's disease 1 (Disease Ontology:DOID:0080348); early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy (MONDO:MONDO:0700288)", "pathway": " (hsa:89953); (R-HSA-2132295); (R-HSA-5625970); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 5, "publication_count": 228, "publication_id_list": "10036229;10052452;10064083;10072072;10318838;10445031;10480952;10540230;10559959;10593899;10631941;10631952;10639150;10748235;10761932;10809954;10913441;10921873;11172815;11237011;11493604;11529500;11684289;11689559;11689693;11703931;11726511;11739780;11748249;11782313;11790530;11813165;11853874;11933159;12047556;12070132;12078484;12198549;12368902;12742663;12748383;1406973;14504276;14654841;14731593;15029241;15037235;15272311;15326200;15616190;15632110;15749704;15813748;15911768;16030262;1607388;16181339;16242130;16262723;1631136;16571679;16618111;16633337;1680566;16824007;16912714;16926190;16940185;16964243;17113389;17142755;17253781;17283181;17322306;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18046453;18182008;18212344;18220336;18287528;18292509;18342609;18452278;18524849;18669648;18691976;18767875;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;19413330;1956401;19564404;1957170;19631211;19664995;19690332;19758564;20005805;20058876;20068231;20136777;20166139;20230923;20357002;20427317;20462495;20534429;20637885;21116285;2121367;21219331;21406692;2142332;21441454;21550981;21689688;21844168;2190094;22013193;22094269;22223895;22304919;23186163;23301498;23396477;2391366;24275569;2521221;2522352;25364732;25436559;25492864;25576301;25645385;26423925;26992070;28228285;28832583;28834231;29242379;29485866;29557506;30379171;30429286;3130248;3134048;31373491;31844290;32157095;32357974;32938616;32983136;33298915;33912179;33968037;33981976;34087483;34171305;34357683;35051231;36010968;36215666;40914422;7481823;7528108;7539720;7592972;7650016;7667286;7787244;7822426;7844144;7929562;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8548803;8599929;8602245;8620540;8642258;8687433;8769096;8849454;8909537;8912005;8939989;8947036;9075930;9114004;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9497313;9539769;9545226;9606180;9751720;9822636;9990005", "class_list": "", "function": "Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity)., [UniProtKB]; Kinesin is a microtubule-associated force-producing protein that play a role in organelle transport., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "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": "B3KNY4;B3KPI3;B3KSQ3;B4DME9;Q66K28;Q96EG6", "ec_number_list": [], "go_molecular_function": "GO:0019894 kinesin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005871 kinesin complex", "go_biological_process": "GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 23.5, "record_id": "Q9NSK0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2A7-1", "uniprot_id": [ { "id": "NCKP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2A7", "type": "external" } ], "mass": 128790.0, "length": 1128, "protein_name": "Nck-associated protein 1", "gene_name": "NCKAP1", "organism": "Human", "refseq_name": "nck-associated protein 1 isoform 1", "refseq_ac": [ { "id": "NP_038464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038464", "type": "external" } ], "gene_names_uniprotkb": "NCKAP1; HEM2; KIAA0587; NAP1", "gene_names_refseq": "HEM2; NAP125; NAP1; NCKAP1; p125Nap1", "protein_names_uniprotkb": "Nck-associated protein 1; Membrane-associated protein HEM-2; NAP 1; p125Nap1", "protein_names_refseq": "membrane-associated protein HEM-2; nck-associated protein 1 isoform 1; nck-associated protein 1", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037)", "pathway": " (hsa:10787); (R-HSA-2029482); (R-HSA-4420097); (R-HSA-5663213); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013423); (R-HSA-9664422)", "pathway_count": 8, "publication_count": 412, "publication_id_list": "10037737;10075701;10207622;10219243;10232922;10395673;10464238;10490598;10496324;10508610;10523665;10523675;10526156;10559246;10559936;10579713;10618392;10673335;10677529;10692392;10699171;10699464;10724160;10744763;10749680;10781580;10847683;10873802;10878810;10958683;10995437;11007481;11058585;11085924;11145705;11149925;11157975;11231582;11237011;11276226;11278486;11329366;11340081;11373293;11396949;11431473;11432776;11553796;11584276;11672528;11695992;11696015;11704860;11707441;11747816;11756552;11773441;11803464;11804587;11804589;11804590;11829459;11854399;11884391;11912491;11919634;11956649;11961559;12055636;12071859;12093360;12096337;12105426;12134158;12189515;12195014;12213210;12214271;12215529;12221096;12235133;12351724;12391143;12432077;12464388;12531887;12546821;12547822;12650940;12660731;12665586;12743368;12810700;12820653;12857875;12877655;12923183;1314888;14512443;14514689;1464587;14675773;14676198;14718541;14724572;15023524;15026417;15033976;15040784;15064355;15107133;15133129;15147912;15169870;15247219;15302923;15308668;15339924;15342493;15452139;15485661;15507211;15542837;15579468;15601624;15611138;15657136;15688067;15695828;15728722;15814684;15850391;15858067;15897194;15962004;16002401;16081809;16112081;16116428;16184169;16243035;16243036;16262445;16336962;16473593;16492808;16507994;16519628;16546099;1660188;16636067;16641196;16702231;16760434;16762923;16777452;16777849;16862148;16880808;16896804;16914516;16966330;16968698;17030947;17060455;17077126;17145773;17158234;17188549;17196961;17199126;17202194;17214551;17237347;17244649;17269730;17293873;17308335;17583407;17599059;17686471;17698854;17702745;17765681;17804252;17976533;18006505;18045877;18056264;18070890;18191593;18218625;18249095;18347018;18391171;18396277;18426980;18653540;18662984;18697831;18838382;19230644;19267251;19269969;19494238;19534724;19605563;19673492;19713215;19741094;19934221;19955216;20068231;20400958;20460433;20658524;20679435;20810653;21037092;21107423;21148482;21151158;21378159;21419341;21445309;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22327215;22407364;22424782;22475431;22608513;22689825;22734669;22970203;23209303;23216836;23255595;23288169;23301498;23434736;23481700;23572525;23675550;23707487;23718289;23757206;23870057;23940355;24086303;24259668;24335996;24352656;24623723;2474607;24859002;24933155;24960694;25024229;25121749;25211221;25428919;25576301;25645385;25704760;25721503;25795300;25862245;26016997;26129894;26529257;26628301;26811146;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27806292;27846572;27862975;28114311;28196833;28228285;28356423;28514659;28649982;28832583;28834231;28904123;28940097;29089502;29242379;29288388;29358323;29382922;29393594;29557506;29786170;29789417;30315122;30429286;30484775;30524438;30620550;30779550;30833945;30853411;31154438;31217245;31389670;31844290;31848261;31871319;31937595;32157095;32161166;32203420;32357974;32387766;32488085;32938616;33141586;33298915;33392160;33592498;33717175;33726789;33912179;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34533810;34725712;35008409;35051231;35580925;36010968;36241641;36284347;37154887;37217939;37938771;38665916;7479768;7509446;7512369;7559638;7673236;7721814;7753201;7835339;7848918;8021274;8107774;8537347;8543060;8617235;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8809042;8810315;8816443;8939998;8986718;8990121;8994827;9013646;9099726;9113980;9182576;9252344;9305890;9393975;9398617;9438849;9472046;9490638;9497316;9582072;9600938;9659915;9670022;9705280;9792683;9799231;9822598;9843499;9883880;9885284;9988689", "class_list": "", "function": "Circ_NCKAP1 promotes skin basal cell carcinoma progression by sponging the miR-148b-5p/HSP90 axis., [RefSeq, PubMed]; Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes., [UniProtKB, UniProtKB]; Role of NCKAP1 in the Defective Phagocytic Function of Microglia-Like Cells Derived from Rapidly Progressing Sporadic ALS., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "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": "O60329;Q53QN5;Q53S94;Q53Y35", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0030027 lamellipodium;GO:0070062 extracellular exosome;GO:0098794 postsynapse", "go_biological_process": "GO:0016477 cell migration;GO:0006915 apoptotic process;GO:0048812 neuron projection morphogenesis;GO:0000902 cell morphogenesis;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 41.5, "record_id": "Q9Y2A7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17RB8-1", "uniprot_id": [ { "id": "LONF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17RB8", "type": "external" } ], "mass": 86725.0, "length": 773, "protein_name": "LON peptidase N-terminal domain and RING finger protein 1", "gene_name": "LONRF1", "organism": "Human", "refseq_name": "LON peptidase N-terminal domain and RING finger protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001316905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316905", "type": "external" } ], "gene_names_uniprotkb": "LONRF1; RNF191", "gene_names_refseq": "LONRF1; RNF191", "protein_names_uniprotkb": "LON peptidase N-terminal domain and RING finger protein 1; RING finger protein 191", "protein_names_refseq": "LON peptidase N-terminal domain and RING finger protein 1 isoform 2; LON peptidase N-terminal domain and RING finger protein 1; RING finger protein 191", "tax_id": 9606, "disease": "", "pathway": " (hsa:91694); (R-HSA-983168)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2261476;23481700;25576301;25880248;26992070;27600516;27920218;28228285;28832583;28904123;29242379;29393594;29508533;29557506;29632046;30315122;30379171;30779550;31844290;31998317;32157095;32357974;32488085;32502341;32938616;33298915;33912179;33936100;33968037;33981976;34087483;35051231;9380723;9668046", "class_list": "", "function": "", "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "B4DM29;B4DU84;Q8TEA0;Q9BSV1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q17RB8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15057-1", "uniprot_id": [ { "id": "ACAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15057", "type": "external" } ], "mass": 88029.0, "length": 778, "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "organism": "Human", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": [ { "id": "NP_036419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036419", "type": "external" } ], "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "protein_names_uniprotkb": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2; Centaurin-beta-2; Cnt-b2", "protein_names_refseq": "Arf GAP with coiled coil, ANK repeat and PH domains 2; arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2; centaurin-beta-2", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:23527)", "pathway_count": 1, "publication_count": 96, "publication_id_list": "10.1101/2023.09.13.557529;11050434;11062263;11237011;15592455;17322306;17525332;18003747;18669648;18707149;19413330;19651622;19664994;20058876;20068231;23186163;23481700;24366607;24714562;25418920;25505266;25576301;25645385;25880248;26154972;26375851;26992070;27600516;27846572;27920218;28218747;28228285;28446606;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30779550;30905672;31154438;31222486;31530632;31844290;31848261;31863774;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34085707;34185709;34405274;34433824;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36284347;36581221;37938771;40914422", "class_list": "", "function": "ACAP2 has robust, constitutive Arf6 GAP activity in vivo, with little activity toward Arf1., [RefSeq, PubMed]; Analysis of structural basis for effector recognition in Rab35/ACAP2 and Rab35/RUSC2 complexes, [RefSeq, PubMed]; Centaurin beta2/KIAA0041, is a member of the centaurin family of ADP-ribosylation factor directed GTPase-activating proteins. Binding of phosphoinositides to a pleckstrin homology domain may regulate subcellular localisation and activity. Review article, [RefSeq, PubMed]; Circ-ACAP2 facilitates the progression of colorectal cancer through mediating miR-143-3p/FZD4 axis., [RefSeq, PubMed]; Elevated expression of circACAP2 in breast cancer tissues leads to malignant phenotype upon cancerous cells. CircACAP2-miR-29a/b-3p-COL5A1 axis leads to breast cancer tumorigenesis, [RefSeq, PubMed]; GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6). Doesn't show GAP activity for RAB35 (PubMed:30905672)., [UniProtKB, PubMed, PubMed]; GTPase-activating protein for the ADP ribosylation factor family., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K2V4;Q8N5Z8;Q9UQR3", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0010008 endosome membrane;GO:0001726 ruffle;GO:0005737 cytoplasm", "go_biological_process": "GO:1990090 cellular response to nerve growth factor stimulus;GO:0032456 endocytic recycling;GO:0030029 actin filament-based process", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q15057-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60706-1", "uniprot_id": [ { "id": "ABCC9_HUMAN", "url": "https://www.uniprot.org/uniprot/O60706", "type": "external" } ], "mass": 174223.0, "length": 1549, "protein_name": "ATP-binding cassette sub-family C member 9", "gene_name": "ABCC9", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "refseq_ac": [ { "id": "NP_005682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005682", "type": "external" } ], "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "protein_names_uniprotkb": "ATP-binding cassette sub-family C member 9; Sulfonylurea receptor 2", "protein_names_refseq": "ATP-binding cassette sub-family C member 9 isoform SUR2A; ATP-binding cassette transporter sub-family C member 9; ATP-binding cassette, sub-family C (CFTR/MRP), member 9; sulfonylurea receptor 2", "tax_id": 9606, "disease": "familial atrial fibrillation (Disease Ontology:DOID:0050650); hypertrichotic osteochondrodysplasia Cantu type (Disease Ontology:DOID:0060569); intellectual disability and myopathy syndrome (Disease Ontology:DOID:0070600); Parkinsonism (Disease Ontology:DOID:0080855); dilated cardiomyopathy 1O (Disease Ontology:DOID:0110451); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:10060); (R-HSA-1296025); (R-HSA-382556); (R-HSA-5578775); (R-HSA-5678420)", "pathway_count": 5, "publication_count": 131, "publication_id_list": "10220561;10484077;10665657;10748049;10913253;11062458;11237011;11504826;11562789;11812794;11904675;12119109;12200636;12379217;12379510;12403779;12604685;12832055;12953268;1352877;1356264;1359686;1377674;14661924;15034580;15087422;15174025;15175422;15260953;15472518;15598648;15754088;15863492;15899824;16754674;16816140;16901789;1693919;17224452;17245405;17357072;17486119;17523162;17855752;17894550;17977821;18258787;18282684;18434309;18995841;19002207;19278978;19447222;19570978;1968359;19751721;19862647;1998343;20388710;20583968;20621639;21108950;22105623;22178883;22210847;2226863;22427649;22608503;22610116;22707725;22972900;23063411;23362265;23481700;23549614;23610579;24019521;2430951;24685677;2475911;2477373;25133187;2559024;2570070;25994790;26208431;26621776;28132103;28228285;2838329;28645727;28832583;2898143;2953725;29557506;29769354;30429286;30459171;31154438;31303265;31324691;31575858;31848261;32157095;32502341;32981041;34359961;3457471;34711681;3472246;35051231;35580925;36581221;37938771;38217872;39531497;6328127;7523390;7529176;7553863;7553864;7702581;7865904;7929371;8798450;8918259;9346285;9457174;9652413;9816258;9831708", "class_list": "", "function": "Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome., [RefSeq, PubMed]; Role of mutation in human dilated cardiomyopathy and effect on KATP channel gating, [RefSeq, PubMed]; Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation (PubMed:9831708). Can form a sulfonylurea-sensitive but ATP-insensitive potassium channel with KCNJ8 (By similarity)., [UniProtKB, PubMed, UniProtKB]; The 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 MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]., [RefSeq]; Vascular KATP channel structural dynamics reveal regulatory mechanism by Mg-nucleotides., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 88, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 8, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "O60707", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0015459 potassium channel regulator activity;GO:0016887 ATP hydrolysis activity;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0030017 sarcomere;GO:0008282 inward rectifying potassium channel;GO:0042383 sarcolemma", "go_biological_process": "GO:0051607 defense response to virus;GO:0055085 transmembrane transport;GO:0098655 monoatomic cation transmembrane transport;GO:0061337 cardiac conduction;GO:0033198 response to ATP", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "O60706-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHY2-1", "uniprot_id": [ { "id": "COP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHY2", "type": "external" } ], "mass": 80474.0, "length": 731, "protein_name": "E3 ubiquitin-protein ligase COP1", "gene_name": "COP1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "refseq_ac": [ { "id": "NP_001001740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001740", "type": "external" } ], "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase COP1; 2.3.2.27; Constitutive photomorphogenesis protein 1 homolog; RING finger and WD repeat domain protein 2; RING finger protein 200; RING-type E3 ubiquitin transferase RFWD2; hCOP1", "protein_names_refseq": "E3 ubiquitin-protein ligase COP1 isoform b; E3 ubiquitin-protein ligase COP1; E3 ubiquitin-protein ligase RFWD2; RING finger protein 200; RING-type E3 ubiquitin transferase RFWD2; constitutive photomorphogenesis protein 1 homolog; constitutive photomorphogenic protein 1; putative ubiquitin ligase COP1; ring finger and WD repeat domain 2, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:64326); (R-HSA-349425); (R-HSA-8951664)", "pathway_count": 3, "publication_count": 173, "publication_id_list": "10.1101/2023.09.13.557529;10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12466024;12504025;12504026;12526791;12538644;12609982;12615916;12682069;12759363;12816948;14690597;14739464;14757770;15103385;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16931761;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;17968316;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;19805145;19837670;20410507;20843328;21447816;21463634;21625211;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24715725;24722188;24793695;24793696;25314029;25349211;25355947;25418920;25505266;25531226;25576301;25645385;25957415;26154972;26344709;26460955;26632597;26906416;26929215;26992070;27030794;27041596;27222660;27565346;28115426;28218747;28649982;28832583;28904123;29153394;29242379;29437277;29493099;29557506;29786170;30315122;30397120;30524438;30610225;31844290;32005965;32157095;32161166;32284348;32357974;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33444648;33912179;33936100;33968037;33981976;34087483;34171305;34561969;35051231;35580925;36010968;36215666;36284347;37025097;37700160;37938771;39302247;39304928;39349111;9790970;9887101;9891082", "class_list": "", "function": "Constitutive photomorphogenic protein 1 ubiquitinates interleukin-1 receptor accessory protein in human liver cancer., [RefSeq, PubMed]; DET1 promotes ubiquitination and degradation of c-Jun by assembling a multisubunit ubiquitin ligase containing DNA Damage Binding Protein-1 (DDB1), cullin 4A (CUL4A), Regulator of Cullins-1 (ROC1), and constitutively photomorphogenic-1, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Involved in JUN ubiquitination and degradation. Directly involved in p53 (TP53) ubiquitination and degradation, thereby abolishing p53-dependent transcription and apoptosis. Ubiquitinates p53 independently of MDM2 or RCHY1. Probably mediates E3 ubiquitin ligase activity by functioning as the essential RING domain subunit of larger E3 complexes. In contrast, it does not constitute the catalytic RING subunit in the DCX DET1-COP1 complex that negatively regulates JUN, the ubiquitin ligase activity being mediated by RBX1. Involved in 14-3-3 protein sigma/SFN ubiquitination and proteasomal degradation, leading to AKT activation and promotion of cell survival. Ubiquitinates MTA1 leading to its proteasomal degradation. Upon binding to TRIB1, ubiquitinates CEBPA, which lacks a canonical COP1-binding motif (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Effect of COP1 in Promoting the Tumorigenesis of Gastric Cancer by Down-Regulation of CDH18 via PI3K/AKT Signal Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; RFWD2 increases proliferation and CDDP resistance of osteosarcoma cells., [RefSeq, PubMed]; STK40 inhibits trophoblast fusion by mediating COP1 ubiquitination to degrade P57[Kip2]. 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E9PKI0;Q504W6;Q6H103;Q9H6L7;X5D9B4", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "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:0031464 Cul4A-RING E3 ubiquitin ligase complex;GO:0000139 Golgi membrane;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045717 negative regulation of fatty acid biosynthetic process;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010212 response to ionizing radiation;GO:0016567 protein ubiquitination;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "Q8NHY2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61769-1", "uniprot_id": [ { "id": "B2MG_HUMAN", "url": "https://www.uniprot.org/uniprot/P61769", "type": "external" } ], "mass": 13715.0, "length": 119, "protein_name": "Beta-2-microglobulin", "gene_name": "B2M", "organism": "Human", "refseq_name": "beta-2-microglobulin precursor", "refseq_ac": [ { "id": "NP_004039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004039", "type": "external" } ], "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "protein_names_uniprotkb": "Beta-2-microglobulin", "protein_names_refseq": "beta chain of MHC class I molecules; beta-2-microglobin; beta-2-microglobulin precursor", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); peripheral artery disease (Disease Ontology:DOID:0050830); lymphoproliferative syndrome (Disease Ontology:DOID:0060704); immunodeficiency 43 (Disease Ontology:DOID:0111981); hypertension (Disease Ontology:DOID:10763); pyelonephritis (Disease Ontology:DOID:11400); Parkinson's disease (Disease Ontology:DOID:14330); arteriosclerosis (Disease Ontology:DOID:2349); hemochromatosis (Disease Ontology:DOID:2352); acute kidney failure (Disease Ontology:DOID:3021); carotid artery disease (Disease Ontology:DOID:3407); autoimmune disease (Disease Ontology:DOID:417); ureteral obstruction (Disease Ontology:DOID:5199); proteinuria (Disease Ontology:DOID:576); encephalomyelitis (Disease Ontology:DOID:640); cataract (Disease Ontology:DOID:83); arthritis (Disease Ontology:DOID:848); measles (Disease Ontology:DOID:8622); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); obesity (Disease Ontology:DOID:9970); amyloidosis, hereditary systemic 6 (MONDO:MONDO:0971010)", "pathway": " (hsa:567); (R-HSA-1236974); (R-HSA-1236977); (R-HSA-164940); (R-HSA-198933); (R-HSA-2172127); (R-HSA-2424491); (R-HSA-6798695); (R-HSA-877300); (R-HSA-9637628); (R-HSA-9705671); (R-HSA-977225); (R-HSA-983170)", "pathway_count": 13, "publication_count": 496, 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"class_list": "", "function": "Association Between Serum GDF15 Concentration and Total Mortality in Community-Dwelling Japanese Older Populations: The Involvement of Renal Dysfunction., [RefSeq, PubMed]; Beta(2)microglobulin displays an antibacterial activity when amniotic cells are exposed to pathogens., [RefSeq, PubMed]; Beta2-microglobulin induced apoptosis of tumor cells via the ERK signaling pathway by directly interacting with HFE in HER2-overexpressing breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553)., [UniProtKB, PubMed]; Differential HLA class I subunit (A, B, C heavy chain and beta2-microglobulin) expression levels in normal tissues. Erratum:[Virchows Arch. 2024 Nov;485(5):957. doi: 10.1007/s00428-024-03750-7. PMID: 38315233], [RefSeq, PubMed]; Plasma Proteomics Identifies B2M as a Regulator of Pulmonary Hypertension in Heart Failure With Preserved Ejection Fraction., [RefSeq, PubMed]; This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 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": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 7, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 22, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "P01884;Q540F8;Q6IAT8;Q9UCK0;Q9UD48;Q9UDF4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0023026 MHC class II protein complex binding;GO:0005198 structural molecule activity;GO:0042605 peptide antigen binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0002715 regulation of natural killer cell mediated immunity;GO:0006955 immune response;GO:0007611 learning or memory;GO:0051289 protein homotetramerization;GO:1990000 amyloid fibril formation", "synthesized_glycan_count": 0, "hit_score": 50.4, "record_id": "P61769-1", "record_type": "protein", "filter_code": "0000000.1110111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63151-1", "uniprot_id": [ { "id": "2ABA_HUMAN", "url": "https://www.uniprot.org/uniprot/P63151", "type": "external" } ], "mass": 51692.0, "length": 447, "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform", "gene_name": "PPP2R2A", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform isoform 2", "refseq_ac": [ { "id": "NP_001171062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171062", "type": "external" } ], "gene_names_uniprotkb": "PPP2R2A", "gene_names_refseq": "B55ALPHA; B55A; B55; PPP2R2A; PR52A; PR55A; PR55alpha", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform; B55; PP2A subunit B isoform B55-alpha; PP2A subunit B isoform PR55-alpha; PP2A subunit B isoform R2-alpha; PP2A subunit B isoform alpha", "protein_names_refseq": "protein phosphatase 2, regulatory subunit B, alpha; serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform isoform 2", "tax_id": 9606, "disease": "autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441)", "pathway": " (hsa:5520); (R-HSA-2995383); (R-HSA-69231); (R-HSA-69273); (R-HSA-975957); (R-HSA-9860927)", "pathway_count": 6, "publication_count": 229, "publication_id_list": "10207050;10385618;10393926;10395539;10499802;10600115;10652300;10827953;10831586;11032757;11063929;11073976;11157749;11231573;11237011;11238451;11313932;11331269;11416152;11532962;11544179;11546874;11551508;11719808;11875071;11884610;11897663;11907280;12411508;12417715;12435635;12444543;12554878;12718880;12754270;12832468;1384126;1423597;14517297;14527413;14597415;14636577;14742663;14973490;15024056;15034551;15456846;15546618;15572030;15579463;15721257;16186820;16195327;16209946;16284618;16452507;16582612;16601204;16782892;17053788;17055435;17092340;1717476;17245430;17254966;17254967;17352659;17363904;17533373;17803942;17893241;17908796;18066079;18256688;18280240;1828290;1828392;1828393;1828394;18285455;1836978;18384749;18394995;18414028;18423202;1849734;18524595;18628300;18657639;18710949;18827403;18974281;19060897;19075005;19150429;19160488;19192479;19359157;19417104;19458076;19478851;19487459;19503078;19531498;19556969;19620630;19859661;19909264;20023408;20068231;20107323;20360007;20479275;20576617;20663872;20691628;20711181;20817927;20843055;20930030;20952511;21145460;21419344;21423214;21715330;21795390;21813648;21900495;22223895;22466704;22770216;23007395;23085078;23234702;23242214;23622515;23737759;24515438;24714562;24876129;25576301;25733683;25816751;26154972;26992070;27588481;27846572;27875273;28609714;28904123;29154753;29493099;29557506;30611118;30711375;31020640;31408443;31543423;31844290;32037480;32157095;32265295;32350084;32357974;32387766;32488085;32673515;32897882;32938616;32983136;33108758;33141586;33298915;33402344;33537174;33592498;33717175;33771996;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34229054;34357683;35008409;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37217939;37543698;37938771;38123684;38441530;38982062;40914422;7737117;7743995;7797074;7799941;7954814;8114739;8119945;8139570;8246996;8336704;8428596;8440392;8497257;9042862;9106657;9144196;9190208;9268380;9325318;9447971;9448290;9508775;9670027;9679058", "class_list": "", "function": "FAM122A ensures cell cycle interphase progression and checkpoint control by inhibiting B55alpha/PP2A through helical motifs. Publication Status: Online-Only, [RefSeq, PubMed]; PP2A-B55alpha controls keratinocyte adhesion through dephosphorylation of the Desmoplakin C-terminus. Publication Status: Online-Only, [RefSeq, PubMed]; PR55alpha-controlled protein phosphatase 2A inhibits p16 expression and blocks cellular senescence induction by gamma-irradiation., [RefSeq, PubMed]; Substrate-recognition subunit of protein phosphatase 2A (PP2A) that plays a key role in cell cycle by controlling mitosis entry and exit (PubMed:1849734, PubMed:33108758). Involved in chromosome clustering during late mitosis by mediating dephosphorylation of MKI67 (By similarity). Essential for serine/threonine-protein phosphatase 2A-mediated dephosphorylation of WEE1, preventing its ubiquitin-mediated proteolysis, increasing WEE1 protein levels, and promoting the G2/M checkpoint (PubMed:33108758)., [UniProtKB, PubMed, PubMed, UniProtKB]; The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]., [RefSeq]; The scaffolding subunit exhibits considerable conformational flexibility, which is proposed to play an essential role in PP2A function., [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "B2RBU8;B4E1T7;P50409;Q00007", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0044877 protein-containing complex binding;GO:0048156 tau protein binding;GO:0051721 protein phosphatase 2A binding;GO:0140767 enzyme-substrate adaptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000159 protein phosphatase type 2A complex", "go_biological_process": "GO:0006470 protein dephosphorylation;GO:0051983 regulation of chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 23.2, "record_id": "P63151-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZ83-1", "uniprot_id": [ { "id": "A16A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZ83", "type": "external" } ], "mass": 85127.0, "length": 802, "protein_name": "Aldehyde dehydrogenase family 16 member A1", "gene_name": "ALDH16A1", "organism": "Human", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "refseq_ac": [ { "id": "NP_001138868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138868", "type": "external" } ], "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "protein_names_uniprotkb": "Aldehyde dehydrogenase family 16 member A1", "protein_names_refseq": "aldehyde dehydrogenase family 16 member A1 isoform 2; aldehyde dehydrogenase family 16 member A1", "tax_id": 9606, "disease": "", "pathway": " (hsa:126133)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;19184135;23348497;23481700;24715725;25418920;25576301;25645385;25892735;26154972;26992070;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29351928;29437277;29493099;29557506;29632046;29769354;29786170;30410026;30459171;30484775;30524438;31154438;31844290;31848261;31937595;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33329543;33633747;33912179;33936100;33968037;34087483;34093574;34171305;34357683;34509645;34561969;35051231;35580925;36010968;36215666;36241641;37938771;40914422", "class_list": "", "function": "Both the short and long forms of human ALDH16A1 protein would lack catalytic activity., [RefSeq, PubMed]; Data report that maspardin localizes prominently to cytoplasm as well as to membranes, possibly at trans-Golgi network/late endosomal compartments, and that maspardin interacts with the aldehyde dehydrogenase ALDH16A1., [RefSeq, PubMed]; This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "B4DLQ1;C9JBH6;Q86YF0;Q8IYL4;Q8TEI8", "ec_number_list": [], "go_molecular_function": "GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q8IZ83-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43829-1", "uniprot_id": [ { "id": "ZBT14_HUMAN", "url": "https://www.uniprot.org/uniprot/O43829", "type": "external" } ], "mass": 50956.0, "length": 449, "protein_name": "Zinc finger and BTB domain-containing protein 14", "gene_name": "ZBTB14", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 14", "refseq_ac": [ { "id": "NP_001137295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137295", "type": "external" } ], "gene_names_uniprotkb": "ZBTB14; ZFP161; ZNF478", "gene_names_refseq": "ZBTB14; ZF5; ZFP-161; ZFP-5; ZFP161; ZNF478", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 14; ZF5; Zfp-161; Zfp-5; Zinc finger protein 161 homolog; Zinc finger protein 478; Zinc finger protein 5 homolog; hZF5", "protein_names_refseq": "ZFP161 zinc finger protein; zinc finger and BTB domain-containing protein 14; zinc finger protein 161 homolog; zinc finger protein 478; zinc finger protein 5 homolog; zinc finger protein homologous to Zfp161 in mouse", "tax_id": 9606, "disease": "", "pathway": " (hsa:7541)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;14706637;15629158;17714511;27846572;28832583;29331515;29393594;29632046;30429286;31154438;31757956;31844290;32157095;35051231;9177479;9244432", "class_list": "", "function": "Transcriptional activator of the dopamine transporter (DAT), binding its promoter at the consensus sequence 5'-CCTGCACAGTTCACGGA-3'. Binds to 5'-d(GCC)(n)-3' trinucleotide repeats in promoter regions and acts as a repressor of the FMR1 gene. Transcriptional repressor of MYC and thymidine kinase promoters., [UniProtKB, PubMed]; ZFP161 acts as a scaffolding protein to facilitate the interaction between RPA and ATR/ATRIP. ZFP161 binds to RPA and ATR/ATRIP through distinct regions and stabilizes the RPA-ATR-ATRIP complex at stalled replication forks. This function of ZFP161 is important to the ATR signaling cascade and genome stability maintenance. 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, "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": 2, "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": "O00403;Q2TB80", "ec_number_list": [], "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: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:0005730 nucleolus", "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:0002682 regulation of immune system process;GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O43829-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYF3-1", "uniprot_id": [ { "id": "FA53C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYF3", "type": "external" } ], "mass": 43091.0, "length": 392, "protein_name": "Protein FAM53C", "gene_name": "FAM53C", "organism": "Human", "refseq_name": "protein FAM53C isoform 1", "refseq_ac": [ { "id": "NP_001129119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129119", "type": "external" } ], "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "protein_names_uniprotkb": "Protein FAM53C", "protein_names_refseq": "protein FAM53C isoform 1; protein FAM53C; putative nuclear protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51307)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11087669;11237011;15302935;17081983;18220336;18669648;18767875;19413330;19651622;19664994;19690332;20058876;20068231;22223895;23186163;23481700;24714562;24715725;25576301;26154972;26992070;27846572;27869121;28832583;28834231;28904123;29242379;29508533;29632046;29632711;29786170;30379171;31844290;32157095;32265295;32387766;32502341;32938616;32983136;33592498;33717175;33936100;34019948;34211107;35051231;35580925;37802655", "class_list": "", "function": "Identification of FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]., [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": 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": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "B2RDJ5;D3DQB9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9NYF3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P597-1", "uniprot_id": [ { "id": "KLC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P597", "type": "external" } ], "mass": 55364.0, "length": 504, "protein_name": "Kinesin light chain 3", "gene_name": "KLC3", "organism": "Human", "refseq_name": "kinesin light chain 3", "refseq_ac": [ { "id": "NP_803136", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_803136", "type": "external" } ], "gene_names_uniprotkb": "KLC3; KLC2L; KLC2", "gene_names_refseq": "KLC2L; KLC2; KLC3; KLCt; KNS2B", "protein_names_uniprotkb": "Kinesin light chain 3; KLC2-like; kinesin light chain 2", "protein_names_refseq": "kinesin light chain 2; kinesin light chain 3", "tax_id": 9606, "disease": "Alzheimer's disease 1 (Disease Ontology:DOID:0080348)", "pathway": " (hsa:147700); (R-HSA-2132295); (R-HSA-5625970); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 5, "publication_count": 202, "publication_id_list": "10036229;10052452;10064083;10072072;10318838;10445031;10480952;10540230;10559959;10593899;10631941;10631952;10639150;10748235;10761932;10809954;10913441;10921873;11172815;11237011;11319135;11493604;11529500;11684289;11689559;11689693;11703931;11726511;11739780;11748249;11782313;11790530;11813165;11853874;11933159;12047556;12070132;12078484;12198549;12368902;12594206;12742663;12748383;1406973;14504276;14654841;14731593;15029241;15037235;15272311;15326200;15616190;15632110;15749704;15813748;15911768;16030262;1607388;16181339;16242130;16262723;1631136;16571679;16618111;16633337;1680566;16824007;16912714;16926190;16940185;17113389;17142755;17253781;17283181;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18046453;18182008;18287528;18292509;18342609;18524849;18669648;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;19413330;19415658;1956401;19564404;1957170;19631211;19664995;19690332;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21116285;2121367;21219331;21406692;2142332;21441454;21550981;21689688;21844168;2190094;22013193;22094269;22304919;23186163;23396477;2391366;2521221;2522352;25364732;25436559;25492864;25576301;27920218;28063628;28832583;29242379;29393594;29632046;3130248;3134048;32157095;32502341;32938616;33968037;34357683;35051231;7481823;7528108;7539720;7592972;7650016;7667286;7787244;7822426;7844144;7929562;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8548803;8599929;8602245;8620540;8642258;8687433;8769096;8786141;8849454;8909537;8912005;8939989;8947036;9075930;9114004;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9497313;9539769;9545226;9606180;9751720;9822636;9990005", "class_list": "", "function": "Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. Plays a role during spermiogenesis in the development of the sperm tail midpiece and in the normal function of spermatozoa. May play a role in the formation of the mitochondrial sheath formation in the developing spermatid midpiece., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Kinesin is a microtubule-associated force-producing protein that play a role in organelle transport., [UniProtKB, UniProtKB, UniProtKB]; Rat KLC3 associates with the outer dense fibers of maturing sperm tails., [RefSeq, PubMed]; Rat KLC3 interacts with KHC and microtubules in vitro. Expressed in spleen, intestine, brain, ovary, testis. Testis expression restricted to post-meiotic spermatids., [RefSeq, PubMed]; This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [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, "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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "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": "A0AVM3;A2RUT6;Q6GMU2;Q8NAL1;Q8WWJ9", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0019894 kinesin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005874 microtubule;GO:0031514 motile cilium;GO:0035253 ciliary rootlet", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007286 spermatid development;GO:0007018 microtubule-based movement;GO:0120317 sperm mitochondrial sheath assembly;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "Q6P597-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14598-1", "uniprot_id": [ { "id": "NCF1_HUMAN", "url": "https://www.uniprot.org/uniprot/P14598", "type": "external" } ], "mass": 44682.0, "length": 390, "protein_name": "Neutrophil cytosol factor 1", "gene_name": "NCF1", "organism": "Human", "refseq_name": "neutrophil cytosol factor 1", "refseq_ac": [ { "id": "NP_000256", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000256", "type": "external" } ], "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "protein_names_uniprotkb": "Neutrophil cytosol factor 1; 47 kDa autosomal chronic granulomatous disease protein; 47 kDa neutrophil oxidase factor; NCF-1; NCF-47K; Neutrophil NADPH oxidase factor 1; Nox organizer 2; Nox-organizing protein 2; SH3 and PX domain-containing protein 1A; p47-phox", "protein_names_refseq": "47 kDa autosomal chronic granulomatous disease protein; 47 kDa neutrophil oxidase factor; NADPH oxidase organizer 2; SH3 and PX domain-containing protein 1A; neutrophil NADPH oxidase factor 1; neutrophil cytosol factor 1; neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1); nox organizer 2; nox-organizing protein 2", "tax_id": 9606, "disease": "autosomal recessive chronic granulomatous disease 1 (Disease Ontology:DOID:0070192); Williams-Beuren syndrome (Disease Ontology:DOID:1928); chronic granulomatous disease (Disease Ontology:DOID:3265); rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:653361); (R-HSA-1222556); (R-HSA-1236973); (R-HSA-3299685); (R-HSA-4420097); (R-HSA-5668599); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013423)", "pathway_count": 9, "publication_count": 495, "publication_id_list": "10029572;10037737;10072071;10075701;10207622;10232922;10358769;10395673;10400704;10455184;10464238;10490598;10508610;10514471;10521424;10523665;10523675;10526156;10559246;10559253;10579713;10618392;10656833;10677529;10692392;10699171;10699464;10744763;10749680;10772875;10833429;10847683;10873802;10919671;10958683;10982;11007481;11018045;11058585;11085924;11090627;11133775;11139407;11145705;11149925;11237011;11237855;11278486;11373293;11373621;11396949;11431473;11432776;11507097;11518528;11584276;11672528;11695992;11696015;11704860;11707441;11740866;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11886899;11912491;11912930;11919634;11956649;11961559;11970843;12023963;12056906;12071859;12093360;12096337;12134158;12169629;12195014;12214271;12215529;12221096;12351724;12356722;12391143;12432077;12446202;12464388;12531887;12546821;12547822;12650940;12660731;12665586;12716910;12732142;12734380;12810700;12820653;12829378;12857875;12877655;12923183;14512443;14514689;14530365;1464587;14675773;14718541;14724572;15023524;15026417;15033976;15044467;15046979;15064355;15064408;15107133;15133129;15147273;15147912;15169870;15247219;15280035;15302923;15308668;15317809;15339924;15342493;15485661;15507211;15542837;15579468;15591124;15596429;15601624;15611138;15629715;15657040;15688067;15695828;15728722;15814684;15824103;15850391;15858067;15897194;15927447;15962004;16002401;16052631;16081809;16112081;16116428;16184169;16243035;16243036;16326715;16329988;16336962;16401067;16473593;16492808;16507994;16519628;1660188;16615992;16636067;1668270;16702231;16750198;16760434;16762923;16777452;16777849;16778989;16862148;16880213;16896804;16914516;16966330;16968698;17030947;17060455;17077126;17145773;17158234;17196961;17199126;17214551;17217339;17237347;17244649;17269730;17275676;17293873;17351642;17519234;17583407;17599059;1763037;17662945;17686471;17698854;17702745;17707404;17765681;17804252;17976533;18006505;18045877;18056264;18191593;18218625;18249095;18268517;18331591;18347018;18358825;18396277;18426980;18653540;18662984;18682599;18697831;18703498;18838382;18936159;19089323;19217269;19219623;19230644;19267251;19269969;19372727;19494238;19534724;19542232;19605563;19673492;19713215;19718658;19801500;19807924;19934221;1999334;20070187;2011585;20134026;20171863;20367259;20400958;20460433;20658524;20679435;20690882;2071038;20810653;20813901;20920494;20956805;21124855;21148482;21151158;21215271;21239714;21378159;21385867;21393238;21445309;21542010;21565175;21613211;21730051;21865595;21967640;21989057;22004470;22096251;22298643;22327215;22407364;22475431;22493009;22608513;22689825;22734669;22808130;22869735;22910329;22970203;23085266;23119229;23152058;23164639;23209303;23216836;23255595;23288169;23289851;23434736;23454490;23455484;23572525;23707487;23718289;23757206;23870057;23875749;23910690;23940355;23975181;23980663;2398896;24086303;24259668;24335996;24352656;24623723;24859002;24933155;24960694;25024229;25047527;25211221;25418920;25428919;2547247;2550933;25704760;25721503;25795300;25862245;25877926;25892735;26016997;26129894;26529257;26628301;26887924;26929215;27117132;27145964;27216196;27271317;27481945;27555588;27558335;27566826;27713499;27806292;27809835;27920218;28063628;28114311;28119629;28135245;28196833;28240310;2825632;28356423;2848506;28832583;28834231;29089502;29242379;29358323;29382922;29393594;29508533;29557506;29632046;29632711;29769354;30093530;30315122;30853411;31389670;31736979;31811262;31844290;31871319;31998317;32157095;32203420;32265295;32387766;32502341;32531347;32938616;32983136;33298915;33388549;33691108;33717175;33912179;34068760;34357683;34561969;3457020;34932366;35051231;35108370;35218706;3532102;35561310;35580925;35940074;3619451;36284347;36626553;3693360;37243946;38355798;5389100;60;6286671;6961438;7021796;7172448;7479768;7487923;7509446;7512369;7559638;7581362;7673236;7678924;7721814;7753201;7835339;7980580;8021274;807573;8089108;8107774;8226891;8280052;8379940;8428933;8452552;8537108;8537347;8543060;8617235;8626435;8643598;8645157;8662891;8663465;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8986718;8990121;8994827;9013646;9099726;9113980;9182576;9224653;9252344;9295278;9305890;9329953;9369223;9393975;9398617;9438849;9472046;9490638;9497316;9545283;9582072;9639555;9659915;9670022;9705280;9726962;9763615;9792683;9804763;9822598;9843499;9923614;9988689", "class_list": "", "function": "ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes., [RefSeq, PubMed]; Subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (PubMed:2547247, PubMed:2550933, PubMed:38355798). In the activated complex, electrons are first transferred from NADPH to flavin adenine dinucleotide (FAD) and subsequently transferred via two heme molecules to molecular oxygen, producing superoxide through an outer-sphere reaction (PubMed:38355798). Activation of the NADPH oxidase complex is initiated by the assembly of cytosolic subunits of the NADPH oxidase complex with the core NADPH oxidase complex to form a complex at the plasma membrane or phagosomal membrane (PubMed:38355798). This activation process is initiated by phosphorylation dependent binding of the cytosolic NCF1/p47-phox subunit to the C-terminus of CYBA/p22-phox (PubMed:12732142, PubMed:19801500)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome., [RefSeq, PubMed]; The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [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, "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": 57, "reported_mutagensis": 8, "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": "A6NEH2;A8K7S9;O43842;Q2PP07;Q53FR5;Q9BU90;Q9BXI7;Q9BXI8;Q9UDV9;Q9UMU2", "ec_number_list": [], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0017124 SH3 domain binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0035091 phosphatidylinositol binding;GO:0016176 superoxide-generating NADPH oxidase activator activity", "go_cellular_component": "GO:0043020 NADPH oxidase complex;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:1903409 reactive oxygen species biosynthetic process;GO:0045087 innate immune response;GO:0071333 cellular response to glucose stimulus;GO:0071394 cellular response to testosterone stimulus;GO:0006612 protein targeting to membrane", "synthesized_glycan_count": 0, "hit_score": 49.6, "record_id": "P14598-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y534-1", "uniprot_id": [ { "id": "CSDC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y534", "type": "external" } ], "mass": 16786.0, "length": 153, "protein_name": "Cold shock domain-containing protein C2", "gene_name": "CSDC2", "organism": "Human", "refseq_name": "cold shock domain-containing protein C2", "refseq_ac": [ { "id": "NP_055275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055275", "type": "external" } ], "gene_names_uniprotkb": "CSDC2; PIPPIN", "gene_names_refseq": "CSDC2; PIPPIN; dJ347H13.2", "protein_names_uniprotkb": "Cold shock domain-containing protein C2; RNA-binding protein PIPPin", "protein_names_refseq": "RNA-binding protein pippin; cold shock domain containing C2, RNA binding; cold shock domain-containing protein C2", "tax_id": 9606, "disease": "", "pathway": " (hsa:27254)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;18477386;19651622;26992070;30078185;31154438;35580925", "class_list": "", "function": "RNA-binding factor which binds specifically to the very 3'-UTR ends of both histone H1 and H3.3 mRNAs, encompassing the polyadenylation signal. Might play a central role in the negative regulation of histone variant synthesis in the developing brain (By similarity)., [UniProtKB]; Uterine suppression of CSDC2 through intrauterine-injected-specific small interfering RNA (siRNA) led to abnormal decidualization in early pregnancy, with more extended antimesometrial area and with poor M development if compared with control siRNA-injected animals. These results suggest that CSDC2 could be a regulator during decidua development., [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": 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": 1, "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": "Q8ND37", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006397 mRNA processing;GO:0043488 regulation of mRNA stability", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9Y534-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23945-1", "uniprot_id": [ { "id": "FSHR_HUMAN", "url": "https://www.uniprot.org/uniprot/P23945", "type": "external" } ], "mass": 78238.0, "length": 695, "protein_name": "Follicle-stimulating hormone receptor", "gene_name": "FSHR", "organism": "Human", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "refseq_ac": [ { "id": "NP_000136", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000136", "type": "external" } ], "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "protein_names_uniprotkb": "Follicle-stimulating hormone receptor; FSH-R; Follitropin receptor", "protein_names_refseq": "FSH receptor; follicle-stimulating hormone receptor isoform 1 precursor; follitropin receptor", "tax_id": 9606, "disease": "ovarian dysgenesis 1 (Disease Ontology:DOID:0080493); 46 XX gonadal dysgenesis (Disease Ontology:DOID:14450); granulosa cell tumor (Disease Ontology:DOID:2999); ovarian hyperstimulation syndrome (Disease Ontology:DOID:5425)", "pathway": " (hsa:2492); (R-HSA-375281); (R-HSA-418555)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "10022448;10391209;10551778;11007482;11036902;11237011;11707068;11726197;11847099;11872202;11889179;12036966;12039074;12045258;12058044;12059813;12106601;12180353;12571157;12860470;12915623;12930927;12930928;1301382;1322283;1333190;13549488;1359889;14671004;15080154;1517224;15579795;15662415;15765929;15769620;15886248;15951850;16278261;16313925;16687412;16923326;17030088;1709010;17095587;17168849;17721928;18044684;18577758;19006286;19105585;1922095;19539204;19876791;19906003;19929708;20381629;21036126;2163110;21657270;2244890;24058690;2417744;24687066;24692546;2491850;25132286;2553411;2553705;25581598;2558651;25811175;26398856;26417854;26774084;28228285;2871555;29443750;29602314;30833991;31154438;3127824;31279028;31399091;31983287;32161166;32226383;32497535;32540603;32618402;32715661;33049737;37228156;37287186;37653412;38194289;38664537;6085243;6090951;7553856;7649152;7916967;7926278;8188646;8340388;8514797;8636335;8672451;8702611;8747461;9100567;9263355;9300077;9417641;9419371;9651336;9769327;9851774", "class_list": "", "function": "Ala307Thr variation modulates FSHR structure and impairs its binding affinity for FSH: Implications in polycystic ovarian syndrome., [RefSeq, PubMed]; Exploring the expression and potential function of follicle stimulating hormone receptor in extragonadal cells related to abdominal aortic aneurysm. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor for follitropin, the follicle-stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546). Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways (PubMed:24058690)., [UniProtKB, PubMed, PubMed, PubMed]; G protein-coupled receptor for follitropin, the follicle-stimulating hormone. Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways., [UniProtKB, UniProtKB]; Polymorphisms in FSHR modulating susceptibility to polycystic ovary syndrome: an updated meta-analysis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study., [RefSeq, PubMed]; The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "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": 1, "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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MSC5;A0A1D5RMN4;A8K947;G5CBS7;G5E967;J3KQ00;Q05AH0;Q16225;Q4QRJ3;Q4ZFZ2;Q53RW2", "ec_number_list": [], "go_molecular_function": "GO:0004963 follicle-stimulating hormone receptor activity;GO:0017046 peptide hormone binding;GO:0008528 G protein-coupled peptide receptor activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007283 spermatogenesis;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "P23945-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVP2-1", "uniprot_id": [ { "id": "GNL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVP2", "type": "external" } ], "mass": 61993.0, "length": 549, "protein_name": "Guanine nucleotide-binding protein-like 3", "gene_name": "GNL3", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "refseq_ac": [ { "id": "NP_055181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055181", "type": "external" } ], "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "protein_names_uniprotkb": "Guanine nucleotide-binding protein-like 3; E2-induced gene 3 protein; NNP47; Novel nucleolar protein 47; Nucleolar GTP-binding protein 3; Nucleostemin", "protein_names_refseq": "E2-induced gene 3 protein; estradiol-induced nucleotide binding protein; guanine nucleotide binding protein-like 3 (nucleolar); guanine nucleotide-binding protein-like 3 isoform 1; guanine nucleotide-binding protein-like 3; novel nucleolar protein 47; nucleolar GTP-binding protein 3; nucleostemin", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:26354); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 125, "publication_id_list": "11085516;11237011;11790298;11922599;12068309;12150911;12429849;12464630;16012751;16037817;16043514;16738141;17189298;17353269;17412707;18065403;18438418;18446792;18452278;19106111;19332556;19564402;19608861;19690332;19801658;20038530;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22916032;23301498;23439679;23481700;23482395;2388630;24275569;24424021;24550520;24715725;25114211;25218447;25525153;25576301;25645385;25969445;26154972;26237581;26375851;26992070;27846572;27862975;27920218;28218747;28228285;28446606;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30484775;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33465208;33592498;33691108;33936100;33968037;34019948;34087483;34211107;34433824;35051231;35083852;35138101;35494241;35561310;35580925;35638911;35886999;36010968;36167888;36241641;37938771;37965896;38970264;40596516;40914422;9482744", "class_list": "", "function": "Association of Nucleostemin Polymorphisms with Chronic Hepatitis B Virus Infection in Chinese Han Population., [RefSeq, PubMed]; Common variants in GNL3 gene contributed the susceptibility of hand osteoarthritis in Han Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of GNL3 inhibits LUAD cell growth by regulating Wnt-beta-catenin pathway. Publication Status: Online-Only, [RefSeq, PubMed]; May be required to maintain the proliferative capacity of stem cells. Stabilizes MDM2 by preventing its ubiquitination, and hence proteasomal degradation (By similarity)., [UniProtKB, PubMed, PubMed]; Proteomic Investigation of the Role of Nucleostemin in Nucleophosmin-Mutated OCI-AML 3 Cell Line. Publication Status: Online-Only, [RefSeq, PubMed]; The nucleolar protein GNL3 prevents resection of stalled replication forks., [RefSeq, PubMed]; The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]., [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": 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "B2RDC1;Q5PU80;Q96SV6;Q96SV7;Q9UJY0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005525 GTP binding;GO:0048027 mRNA 5'-UTR binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0016020 membrane;GO:0016604 nuclear body", "go_biological_process": "GO:1904816 positive regulation of protein localization to chromosome, telomeric region;GO:0042127 regulation of cell population proliferation;GO:0019827 stem cell population maintenance;GO:0033235 positive regulation of protein sumoylation;GO:0017145 stem cell division", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q9BVP2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54105-1", "uniprot_id": [ { "id": "ICLN_HUMAN", "url": "https://www.uniprot.org/uniprot/P54105", "type": "external" } ], "mass": 26215.0, "length": 237, "protein_name": "Methylosome subunit pICln", "gene_name": "CLNS1A", "organism": "Human", "refseq_name": "methylosome subunit pICln isoform a", "refseq_ac": [ { "id": "NP_001284", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284", "type": "external" } ], "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "protein_names_uniprotkb": "Methylosome subunit pICln; Chloride channel, nucleotide sensitive 1A; Chloride conductance regulatory protein ICln; Chloride ion current inducer protein; ClCI; I(Cln); Reticulocyte pICln", "protein_names_refseq": "chloride channel regulatory protein; chloride channel, nucleotide sensitive 1A; chloride conductance regulatory protein ICln; chloride ion current inducer protein; i(Cln); methylosome subunit pICln isoform a; methylosome subunit pICln; reticulocyte pICln; reticulocyte protein ICln", "tax_id": 9606, "disease": "", "pathway": " (hsa:1207); (R-HSA-191859)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10330151;10531003;10556282;10601333;10725331;10825435;10851237;11237011;11333016;11713266;11714716;11747828;11748230;12065586;12095920;12441251;12776181;15592455;16087681;16497976;17081983;17287340;17322306;17487921;17525332;18212344;18318008;18452278;18491316;18669648;18691976;18984161;19369195;19413330;19415658;19562805;19651622;19664994;19664995;19690332;20058876;20068231;20112406;20166139;20230923;21081503;21406692;23186163;23301498;24275569;25418920;25880248;26154972;26811146;27397612;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29769354;29786170;30315122;30379171;30410026;30779550;31154438;31222486;31530632;31844290;31848261;32157095;32357974;32488085;32502341;32999000;33298915;33330510;33592498;33912179;33936100;33968037;33981976;34019948;34171305;34357683;34932366;35580925;36010968;37070251;37938771;40596516;40914422;7887970;8196654;8579598;9359436;9845364", "class_list": "", "function": "Involved in both the assembly of spliceosomal snRNPs and the methylation of Sm proteins (PubMed:10330151, PubMed:11713266, PubMed:18984161, PubMed:21081503). Chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs (PubMed:10330151, PubMed:18984161). 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:10330151). 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:10330151, PubMed:18984161). Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus (PubMed:10330151, PubMed:18984161)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Involved in both the assembly of spliceosomal snRNPs and the methylation of Sm proteins. Chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; O-GlcNAcylated LARP1 positively regulated by circCLNS1A facilitates hepatoblastoma progression through DKK4/beta-catenin signalling., [RefSeq, PubMed]; Protein Arginine Methyltransferase 5 Promotes pICln-Dependent Androgen Receptor Transcription in Castration-Resistant Prostate Cancer., [RefSeq, PubMed]; This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]., [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": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RCS9;Q0VDK6;Q9NRD2;Q9NRD3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0048026 positive regulation of mRNA splicing, via spliceosome;GO:0006884 cell volume homeostasis;GO:0006821 chloride transport;GO:0000387 spliceosomal snRNP assembly;GO:0045292 mRNA cis splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P54105-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60341-1", "uniprot_id": [ { "id": "KDM1A_HUMAN", "url": "https://www.uniprot.org/uniprot/O60341", "type": "external" } ], "mass": 92903.0, "length": 852, "protein_name": "Lysine-specific histone demethylase 1A", "gene_name": "KDM1A", "organism": "Human", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "refseq_ac": [ { "id": "NP_001009999", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009999", "type": "external" } ], "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "protein_names_uniprotkb": "Lysine-specific histone demethylase 1A; 1.14.11.-; 1.14.11.65; 1.14.99.66; BRAF35-HDAC complex protein BHC110; Flavin-containing amine oxidase domain-containing protein 2; [histone H3]-dimethyl-L-lysine(4) FAD-dependent demethylase 1A", "protein_names_refseq": "BRAF35-HDAC complex protein BHC110; FAD-binding protein BRAF35-HDAC complex, 110 kDa subunit; [histone H3]-dimethyl-L-lysine(4) FAD-dependent demethylase 1A; amine oxidase (flavin containing) domain 2; flavin-containing amine oxidase domain-containing protein 2; lysine (K)-specific demethylase 1A; lysine-specific histone demethylase 1A isoform a; lysine-specific histone demethylase 1", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); breast cancer (Disease Ontology:DOID:1612); transient cerebral ischemia (Disease Ontology:DOID:224); schizophrenia (Disease Ontology:DOID:5419); hepatocellular carcinoma (Disease Ontology:DOID:684); diabetic retinopathy (Disease Ontology:DOID:8947); alopecia areata (Disease Ontology:DOID:986); palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (MONDO:MONDO:0014751); ACTH-independent macronodular adrenal hyperplasia 3 (MONDO:MONDO:0700299)", "pathway": " (hsa:23028); (R-HSA-3214815); (R-HSA-3214842); (R-HSA-5625886); (R-HSA-8943724); (R-HSA-9018519); (R-HSA-9029569); (R-HSA-9679191); (R-HSA-9764725); (R-HSA-983231)", "pathway_count": 10, "publication_count": 456, "publication_id_list": "10087012;10444591;10449787;10500157;10655587;10748112;10828826;10858438;10873660;10904264;10922406;10926844;11010967;11034064;11042108;11062261;11102443;11103799;11136970;11149950;11165043;11237011;11242053;11345900;11378386;11410592;11452016;11500512;11509652;11545734;11581164;11604492;11682626;11739383;11742974;11744692;11751636;11781575;11875109;11895428;11909966;11912130;11950885;11959846;12032151;12032298;12134158;12150943;12427746;12454263;12493763;12498683;12514133;12612073;12612088;12700765;12724404;12959972;14631847;14675539;14703507;14764426;15001666;15020713;15147902;15247287;15276198;15282324;15302935;15343269;15345050;15514030;15542832;15620353;15710388;15811342;15986123;16009131;16046058;16054028;16079794;16079795;16087863;16113099;16115318;16140033;16223729;1630448;1630819;16362057;16418168;16522641;16531230;16603237;16603238;16676006;16702404;16732292;16732293;16738407;16885027;16956976;16980581;17013392;17027967;17081983;17130829;17186944;17196961;17211407;17277772;17310255;17320163;17351631;17463000;17495528;17510434;17637753;17662961;17666587;17690249;17713478;17805299;17873065;17947579;17974977;18066052;18172008;18187655;18219272;18220336;18256232;18322535;18358809;18391013;18452278;18476782;18487508;18533032;18669648;18691976;18762174;18782758;18805503;19001364;19020303;19098913;19274700;19293402;19295514;19321454;19369195;19383337;19413330;19415658;19440552;19481530;19502796;19651622;19664995;19690332;19718048;19727073;19843542;19880879;19884659;20023638;20068231;20084082;20129925;20164337;20208542;20219941;20220130;20223979;20228790;20233713;20389281;20418909;20457893;20466882;20466885;20494359;20498280;20516213;20530532;20562920;20566875;20570965;20622853;20622854;20627800;20682797;20855588;20871592;21106759;21151129;21187453;21289308;21300290;21310851;21406692;21445275;21507939;21532585;21573489;21587264;2181374;21835891;21878914;218813;21934649;21940756;22056668;22128185;22158034;22265404;22401777;22492511;22541735;22544926;22545144;22552008;22615488;22673513;22704330;22814904;22869377;22898188;23020937;23145106;23172872;23186163;23192763;23287862;23303788;23403292;23435229;23466526;23496987;23519696;23641311;23721412;23723241;23790976;23906331;24111946;24167369;24272870;24275569;24366607;24371278;24397554;24584101;24714562;24715725;24718924;24735615;24838796;24854081;24885040;24973012;24998469;25018020;25296600;25365482;25433557;25542856;25576301;25593309;25633194;25645385;25663755;25674852;25684206;25728608;25728767;25728771;25801024;25802875;25810538;25880248;25954742;25999347;26002965;26056233;26101246;26153859;26154972;26204489;26212009;26214369;26375851;26462610;26479350;26656649;26811146;26845023;26910647;26984517;26992070;27062924;27292636;27325688;27397612;27501329;27600516;27846572;27862975;27886276;27920218;28063628;28082258;28218747;28228285;28344766;28425720;28446606;28514659;28539435;28832583;28834231;28842423;28869506;28904123;29030483;2919170;29242379;29311580;29331515;29358331;29393594;29437277;29493099;29508533;29557506;29563586;29632046;29632711;29691401;29729076;29772548;29786170;29789417;29945920;30201761;30315122;30410026;30429286;3045126;30484775;30497519;30524438;30779550;30833945;30898548;31048504;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31900384;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32494624;32502341;32522876;32612611;3281094;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33608512;33691108;33717175;33912179;33936100;33968037;33981976;34019948;3409321;34171305;34211107;34405274;34509645;34561969;34655521;34725712;34906447;34932366;3498214;35008409;35008676;35051231;35138000;35251023;35292107;35318648;35494241;35561310;35580925;35851744;36010968;36215666;36241641;36284347;3677090;37938771;38253038;38548886;38951697;38965210;39242625;39353440;40596516;40914422;7513682;7559524;7935485;7937828;8195246;8197458;8419924;8662638;8816476;8876171;9065479;9150135;9201922;9230307;9326583;9331217;9338790;9388265;9422515;9611253;9651585;9671459;9731700;9790534;9927674", "class_list": "", "function": "GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; Histone demethylase that can demethylate both 'Lys-4' (H3K4me) and 'Lys-9' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono- (H3K4me1) and di-methylated (H3K4me2) H3K4me. May play a role in the repression of neuronal genes. Alone, it is unable to demethylate H3K4me on nucleosomes and requires the presence of RCOR1/CoREST to achieve such activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; In vivo LSD1 might not necessarily function as an oxidase, but it might use alternative electron acceptors, [RefSeq, PubMed]; KDM1A, a potent and selective target, for the treatment of DNMT3A-deficient non-small cell lung cancer., [RefSeq, PubMed]; LSD1 inhibits the invasion and migration of breast cancer through exosomes. Publication Status: Online-Only, [RefSeq, PubMed]; Neuron-specific histone demethylase that demethylates mono- and dimethylated 'Lys-20' of histone H4 (H4K20me1 and H4K20me2), a chromatin repressive mark. This demethylation is crucial for the initiation and elongation of neuronal activity-regulated genes, required for spatial learning and memory. Mediates H3K9me2 demethylation through cooperation with the supervillin protein (SVIL), and this H3K9 demethylase activity is essential for regulating gene expression during neuronal differentiation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Nucleosomal demethylation is the result of CoREST enhancing the association between BHC110 and nucleosomes, [RefSeq, PubMed]; Results thus identify a histone demethylase conserved from S. pombe to human and reveal dynamic regulation of histone methylation by both histone methylases and demethylases, [RefSeq, PubMed]; The transcription regulators ZNF750 and LSD1/KDM1A dampen inflammation on the skin's surface by silencing pattern recognition receptors., [RefSeq, PubMed]; This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]., [RefSeq]; Transposable elements-mediated recruitment of KDM1A epigenetically silences HNF4A expression to promote hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8MWP9;Q5TH94;Q5TH95;Q86VT7;Q8IXK4;Q8NDP6;Q8TAZ3;Q96AW4", "ec_number_list": [ { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.66", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "1.14.99.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.66", "type": "external" }, { "id": "1.14.11.69", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.69", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" } ], "go_molecular_function": "GO:0035575 histone H4K20 demethylase activity;GO:0032453 histone H3K4 demethylase activity;GO:0061752 telomeric repeat-containing RNA binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin;GO:0035097 histone methyltransferase complex", "go_biological_process": "GO:2000648 positive regulation of stem cell proliferation;GO:0046098 guanine metabolic 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", "synthesized_glycan_count": 0, "hit_score": 46.0, "record_id": "O60341-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20936-1", "uniprot_id": [ { "id": "RASA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P20936", "type": "external" } ], "mass": 116403.0, "length": 1047, "protein_name": "Ras GTPase-activating protein 1", "gene_name": "RASA1", "organism": "Human", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "refseq_ac": [ { "id": "NP_002881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002881", "type": "external" } ], "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "protein_names_uniprotkb": "Ras GTPase-activating protein 1; GAP; GTPase-activating protein; Ras p21 protein activator; RasGAP; p120GAP", "protein_names_refseq": "RAS p21 protein activator (GTPase activating protein) 1; p120 RAS GTPase activating protein; ras GTPase-activating protein 1 isoform 1; triphosphatase-activating protein", "tax_id": 9606, "disease": "arteriovenous malformation (Disease Ontology:DOID:11294); neurodegenerative disease (Disease Ontology:DOID:1289); alcohol use disorder (Disease Ontology:DOID:1574); basal cell carcinoma (Disease Ontology:DOID:2513); capillary malformation-arteriovenous malformation 1 (MONDO:MONDO:0020783)", "pathway": " (hsa:5921); (R-HSA-186763); (R-HSA-3928662); (R-HSA-5218921); (R-HSA-5658442); (R-HSA-8849471)", "pathway_count": 6, "publication_count": 151, "publication_id_list": "10219243;10421574;10508235;10579907;10802064;10995436;11058585;11134074;11237011;11387210;11389730;11493923;11580899;11600407;11747816;11804587;12091389;12391145;12546821;12600938;12646235;12702722;12776187;12787671;12840507;1314164;1374684;1375321;1396585;14532121;14639529;14988728;15378065;15504032;15548136;15572663;15592455;15683364;1570011;15713673;15721239;15879121;16298995;16308318;16478641;16861033;17440041;17548511;18024423;18083107;18452278;1850098;18829532;19553453;19573811;20807769;2121370;2123878;21664272;2201922;22084245;22223895;22751498;22802525;23186163;23443682;23661552;24038909;2466336;24715725;2472219;24814062;25505266;25576301;25645385;25880248;25938342;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29557506;29632046;29632711;29786170;30315122;30484775;30578106;31154438;31324691;31844290;31848261;31998317;3201259;32157095;32161166;32357974;32387766;32938616;32983136;33298915;33592498;33717175;33912179;33968037;33981976;34357683;34509645;35051231;35318648;35561310;35580925;35997118;36010968;36064119;36241641;36284347;37074911;37507023;37767822;37995182;40914422;7478585;7685273;7691811;7692233;7935391;8137811;8275088;8360177;8388543;8443409;8563751;8618896;8647855;8657151;8828816;8940081;8955277;9218480;9219684;9302992;9407060;9484840;9488729;9546424;9739761;9889098", "class_list": "", "function": "Diverse p120RasGAP interactions with doubly phosphorylated partners EphB4, p190RhoGAP, and Dok1., [RefSeq, PubMed]; GTPase-activating protein (GAP) that stimulates the intrinsic GTPase activity of Ras proteins, such as NRAS, facilitating their transition from the active GTP-bound state to the inactive GDP-bound state, thereby terminating Ras signaling., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; P120 RasGAP and ZO-2 are essential for Hippo signaling and tumor-suppressor function mediated by p190A RhoGAP., [RefSeq, PubMed]; Regulation of IncRNA ZNF667-AS1 in Proliferation and Invasion of Esophageal Squamous Cell Carcinoma Cells via Mediating ceRNA Network., [RefSeq, PubMed]; Spectrum of lymphatic anomalies in patients with RASA1-related CM-AVM., [RefSeq, PubMed]; The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]., [RefSeq]; Three Cases of Familial Moyamoya Disease with RASA1 Mutations-A Case Report., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 61, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R6W3;B4DTL2;Q68CU6;Q9UDI1", "ec_number_list": [], "go_molecular_function": "GO:0019870 potassium channel inhibitor activity;GO:0001784 phosphotyrosine residue binding;GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0001726 ruffle", "go_biological_process": "GO:0051252 regulation of RNA metabolic process;GO:0001525 angiogenesis;GO:0001570 vasculogenesis;GO:0007162 negative regulation of cell adhesion;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "P20936-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5FBB7-1", "uniprot_id": [ { "id": "SGO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5FBB7", "type": "external" } ], "mass": 64190.0, "length": 561, "protein_name": "Shugoshin 1", "gene_name": "SGO1", "organism": "Human", "refseq_name": "shugoshin 1 isoform 1", "refseq_ac": [ { "id": "NP_001012409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012409", "type": "external" } ], "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "protein_names_uniprotkb": "Shugoshin 1; Serologically defined breast cancer antigen NY-BR-85; Shugoshin-like 1", "protein_names_refseq": "serologically defined breast cancer antigen NY-BR-85; shugoshin 1 isoform 1; shugoshin 1AB protein; shugoshin 1CD protein; shugoshin 1EF protein; shugoshin 1GH protein; shugoshin 1KL protein", "tax_id": 9606, "disease": "chronic atrial and intestinal dysrhythmia (Disease Ontology:DOID:0060339)", "pathway": " (hsa:151648); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-69273); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 161, "publication_id_list": "10393926;10395539;10411507;10600115;10600384;10652300;10678165;10827953;10958683;11063929;11081627;11181178;11237011;11238451;11313932;11371342;11509732;11535616;11804586;11897663;11907280;12006501;12194817;12411508;12429848;12577064;12679384;12732141;12747765;12754270;12805219;12852857;1384126;14730319;15006353;15024056;15085137;15339662;15456846;15507212;15572030;15604152;15723797;15737063;15737064;15864301;15866170;15944396;16292343;16439214;16541025;16580887;16582612;16582621;16622419;16622420;16682347;16890222;16943183;17030981;17112726;17113138;17129783;1717476;17196341;17198702;1737036;17533373;17617734;17621308;18001770;18097444;18220336;1828290;18285455;18331714;1836978;18384749;18394995;18669648;18716626;18923426;19007248;19015261;19160488;19192479;19350017;19413330;19696148;19815554;19965387;20030946;20068231;20101212;20360007;20591975;20739936;21111234;21148482;21346195;21397845;21406692;21576392;21813648;21868368;21878504;21900495;21987589;22094460;22275430;22608513;22790947;22885700;23186163;23222643;23242214;23801653;24055156;24914801;25173175;25282101;25576301;25740311;25789526;26992070;28063628;28649982;28834231;28904123;29154753;29263825;29331515;31409757;31429579;31530632;31844290;32357974;32502341;32938616;33402344;33592498;33691108;33771996;33912179;33968037;34087483;34260926;35051231;38383432;7737117;7743995;7799941;8119945;8428596;8440392;9268380;9649308;9649503;9670027;9679058;9892021", "class_list": "", "function": "A shugoshin-like protein associates with centromeres during prophase and disappears at the onset of anaphase, [RefSeq, PubMed]; A specific subtype of serine/threonine protein phosphatase 2A (PP2A) associates with human shugoshin, [RefSeq, PubMed]; Bub1 protects centromeric cohesion through Shugoshin in mitosis, [RefSeq, PubMed]; Centriole splitting induced by Sgo1 depletion or expression of a dominant negative mutant is suppressed by ectopic expression of sSgo1 or by Plk1 knockdown., [RefSeq, PubMed]; Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm., [RefSeq, PubMed]; Plays a central role in chromosome cohesion during mitosis by preventing premature dissociation of cohesin complex from centromeres after prophase, when most of cohesin complex dissociates from chromosomes arms. May act by preventing phosphorylation of the STAG2 subunit of cohesin complex at the centromere, ensuring cohesin persistence at centromere until cohesin cleavage by ESPL1/separase at anaphase. Essential for proper chromosome segregation during mitosis and this function requires interaction with PPP2R1A. Its phosphorylated form is necessary for chromosome congression and for the proper attachment of spindle microtubule to the kinetochore. Necessary for kinetochore localization of PLK1 and CENPF. May play a role in the tension sensing mechanism of the spindle-assembly checkpoint by regulating PLK1 kinetochore affinity. Isoform 3 plays a role in maintaining centriole cohesion involved in controlling spindle pole integrity. Involved in centromeric enrichment of AUKRB in prometaphase., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Prognosis and biological function of SGOL1 in clear cell renal cell carcinoma: a multiomics analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the shugoshin family of proteins. This protein is thought to protect centromeric cohesin from cleavage during mitotic prophase by preventing phosphorylation of a cohesin subunit. Reduced expression of this gene leads to the premature loss of centromeric cohesion, mis-segregation of sister chromatids, and mitotic arrest. Evidence suggests that this protein also protects a small subset of cohesin found along the length of the chromosome arms during mitotic prophase. An isoform lacking exon 6 has been shown to play a role in the cohesion of centrioles (PMID: 16582621 and PMID:18331714). Mutations in this gene have been associated with Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, characterized by the co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal Pseudo-obstruction (CIPO) within the first four decades of life (PMID:25282101). Fibroblast cells from CAID patients exhibited both increased cell proliferation and higher rates of senescence. Pseudogenes of this gene have been found on chromosomes 1 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]., [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": 18, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 5, "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": "Q588H5;Q5FBB4;Q5FBB5;Q5FBB6;Q5FBB8;Q8N579;Q8WVL0;Q9BVA8;Q9H275", "ec_number_list": [], "go_molecular_function": "GO:0019900 kinase binding", "go_cellular_component": "GO:0030892 mitotic cohesin complex;GO:0000922 spindle pole;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0045143 homologous chromosome segregation;GO:0007059 chromosome segregation;GO:0008608 attachment of spindle microtubules to kinetochore;GO:0051301 cell division;GO:0071962 mitotic sister chromatid cohesion, centromeric", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "Q5FBB7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P37802-1", "uniprot_id": [ { "id": "TAGL2_HUMAN", "url": "https://www.uniprot.org/uniprot/P37802", "type": "external" } ], "mass": 22391.0, "length": 199, "protein_name": "Transgelin-2", "gene_name": "TAGLN2", "organism": "Human", "refseq_name": "transgelin-2 isoform b", "refseq_ac": [ { "id": "NP_001264152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264152", "type": "external" } ], "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "protein_names_uniprotkb": "Transgelin-2; Epididymis tissue protein Li 7e; SM22-alpha homolog", "protein_names_refseq": "SM22-alpha homolog; epididymis secretory sperm binding protein; epididymis tissue protein Li 7e; transgelin-2 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:8407); (R-HSA-114608)", "pathway_count": 2, "publication_count": 128, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12665801;1435334;14630798;15297306;16408927;18088087;18212344;18446792;18669648;18767875;19413330;19531498;19608861;19615748;19651622;19690332;19901323;20058876;20068231;20166139;20736409;21406692;22424782;22544926;22645359;23186163;23301498;23481700;23640497;24129315;24397554;24714562;24715725;25502872;25576301;25645385;25810538;25844069;26154972;26375851;26768311;26992070;27726376;27846572;27862975;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30041673;30315122;30429286;30484775;30573663;30833945;31154438;31217245;31373491;31530632;31611695;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32387766;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33936100;33968037;34019948;34087483;34171305;34211107;34357683;34433824;34509645;34725712;34932366;35051231;35154160;35251023;35289036;35318648;35580925;36010968;36215666;36241641;36284347;36547768;37217939;37247132;37938771;38665916;38744388;38992489;39168971;40596516;6457647;8467233", "class_list": "", "function": "Single-cell RNA sequencing reveals the lineage of malignant epithelial cells and upregulation of TAGLN2 promotes peritoneal metastasis in gastric cancer. Erratum:[Clin Transl Oncol. 2024 May;26(5):1283-1285. doi: 10.1007/s12094-024-03402-x. PMID: 38492153], [RefSeq, PubMed]; TAGLN2 Promotes the Proliferation, Migration, Invasion, and EMT of Clear Cell Renal Cell Carcinoma Through the PI3K/Akt Signaling Pathway., [RefSeq, PubMed]; TAGLN2 induces resistance signature ISGs by activating AKT-YBX1 signal with dual pathways and mediates the IFN-related DNA damage resistance in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; TAGLN2 targeted control of ARPC5-mediated activation of the MEK/ERK signaling pathway influences the proliferation, invasion, and metastasis of pancreatic cancer cells., [RefSeq, PubMed]; The protein encoded by this gene is similar to the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The specific function of this protein has not yet been determined, although it is thought to be a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]., [RefSeq]; Unveiling the role of TAGLN2 in glioblastoma: From proneural-mesenchymal transition to Temozolomide resistance., [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": 2, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "E9KL39;Q5JRQ6;Q5JRQ7;Q6FGI1;Q9BUH5;Q9H4P0", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome;GO:0031982 vesicle", "go_biological_process": "GO:0007015 actin filament organization;GO:0030855 epithelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P37802-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43298-1", "uniprot_id": [ { "id": "ZBT43_HUMAN", "url": "https://www.uniprot.org/uniprot/O43298", "type": "external" } ], "mass": 52630.0, "length": 467, "protein_name": "Zinc finger and BTB domain-containing protein 43", "gene_name": "ZBTB43", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 43", "refseq_ac": [ { "id": "NP_001129248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129248", "type": "external" } ], "gene_names_uniprotkb": "ZBTB43; KIAA0414; ZBTB22B; ZNF297B", "gene_names_refseq": "ZBTB22B; ZBTB43; ZNF-X; ZNF297B", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 43; Zinc finger and BTB domain-containing protein 22B; Zinc finger protein 297B; ZnF-x", "protein_names_refseq": "zinc finger and BTB domain-containing protein 22B; zinc finger and BTB domain-containing protein 43; zinc finger protein 297B", "tax_id": 9606, "disease": "", "pathway": " (hsa:23099)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;16542149;18802091;19847924;20068231;23186163;25218447;25418920;25576301;25755297;26375851;26811146;26992070;27600516;27846572;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29557506;29789417;30315122;30410026;30429286;30484775;31154438;31217245;31844290;31848261;32157095;32357974;32387766;32488085;32938616;32983136;33717175;33912179;33981976;34509645;34932366;35051231;35561310;35580925;36284347", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [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": 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": 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": "Q5JU96", "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:0001025 RNA polymerase III general transcription initiation factor binding;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", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "O43298-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BR9-1", "uniprot_id": [ { "id": "ZBT8A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BR9", "type": "external" } ], "mass": 50155.0, "length": 441, "protein_name": "Zinc finger and BTB domain-containing protein 8A", "gene_name": "ZBTB8A", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 8A isoform 1", "refseq_ac": [ { "id": "NP_001035531", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035531", "type": "external" } ], "gene_names_uniprotkb": "ZBTB8A; BOZF1", "gene_names_refseq": "BOZF1; ZBTB8A; ZBTB8; ZNF916A", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 8A; BOZ-F1; BTB/POZ and zinc-finger domain-containing factor; BTB/POZ and zinc-finger domains factor on chromosome 1", "protein_names_refseq": "BTB/POZ and zinc-finger domain-containing factor; BTB/POZ and zinc-finger domains factor on chromosome 1; zinc finger and BTB domain containing 8; zinc finger and BTB domain-containing protein 8A isoform 1; zinc finger and BTB domain-containing protein 8A", "tax_id": 9606, "disease": "", "pathway": " (hsa:653121)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;18669648;19690332;23329847;25218447;25755297;25772364;29242379;30429286;31848261", "class_list": "", "function": "Data indicate BOZF1 represses transcription of CDKN1A by inhibition of p53 acetylation and Sp1 binding., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]", "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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "Q8IUL5;Q8IWR9;Q8N2Y5;Q96BX0", "ec_number_list": [], "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: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:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q96BR9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q676U5-1", "uniprot_id": [ { "id": "A16L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q676U5", "type": "external" } ], "mass": 68265.0, "length": 607, "protein_name": "Autophagy-related protein 16-1", "gene_name": "ATG16L1", "organism": "Human", "refseq_name": "autophagy-related protein 16-1 isoform 4", "refseq_ac": [ { "id": "NP_001177195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177195", "type": "external" } ], "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "protein_names_uniprotkb": "Autophagy-related protein 16-1; APG16-like 1", "protein_names_refseq": "APG16L beta; ATG16 autophagy related 16-like 1; WD repeat domain 30; autophagy-related protein 16-1 isoform 4; autophagy-related protein 16-1", "tax_id": 9606, "disease": "inflammatory bowel disease 10 (Disease Ontology:DOID:0110885)", "pathway": " (hsa:55054); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "11096062;11237011;11825910;12975309;15187094;15620219;16963840;17200669;17435756;17484864;17618624;17924679;18047540;18077418;18321988;18439900;18499543;18669648;18849966;18985712;19211835;19322194;19590496;19651622;19659808;19855179;19898463;20059746;20068231;20637199;20639872;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21808068;21819378;22170151;22302078;22682742;22749352;23186163;23202584;23262492;23376921;23392225;23685627;23727157;23884233;24191030;24238340;24553140;24656308;24715166;24747438;24954904;25484072;25568151;25645662;25891078;26083323;26347139;26547861;26992070;27273576;28561066;28904123;29242379;29317426;30778222;31217245;31844290;32157095;32168879;32350084;32357974;32387766;32502341;32938616;32960676;32983136;33087875;33298915;33592498;33633747;33909989;33912179;33968037;34171305;34357683;34509645;35051231;35318648;35580925;36010968;37938771;38994020;39152217;39189559;39284914;7628435", "class_list": "", "function": "A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. GeneRIF: Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Contains a coiled-coil domain and a motif with seven WD repeats, which are also shared by mouse Apg16L., [RefSeq, PubMed]; Estrogen receptor is involved in the osteoarthritis mediated by Atg16L1-NLRP3 activation., [RefSeq, PubMed]; Lens autophagy protein ATG16L1: a potential target for cataract treatment. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an essential role in both canonical and non-canonical autophagy: interacts with ATG12-ATG5 to mediate the lipidation to ATG8 family proteins (MAP1LC3A, MAP1LC3B, MAP1LC3C, GABARAPL1, GABARAPL2 and GABARAP) (PubMed:23376921, PubMed:23392225, PubMed:24553140, PubMed:24954904, PubMed:27273576, PubMed:29317426, PubMed:30778222, PubMed:33909989). Acts as a molecular hub, coordinating autophagy pathways via distinct domains that support either canonical or non-canonical signaling (PubMed:29317426, PubMed:30778222). During canonical autophagy, interacts with ATG12-ATG5 to mediate the conjugation of phosphatidylethanolamine (PE) to ATG8 proteins, to produce a membrane-bound activated form of ATG8 (PubMed:23376921, PubMed:23392225, PubMed:24553140, PubMed:24954904, PubMed:27273576). Thereby, controls the elongation of the nascent autophagosomal membrane (PubMed:23376921, PubMed:23392225, PubMed:24553140, PubMed:24954904, PubMed:27273576). As part of the ATG8 conjugation system with ATG5 and ATG12, required for recruitment of LRRK2 to stressed lysosomes and induction of LRRK2 kinase activity in response to lysosomal stress (By similarity). Also involved in non-canonical autophagy, a parallel pathway involving conjugation of ATG8 proteins to single membranes at endolysosomal compartments, probably by catalyzing conjugation of phosphatidylserine (PS) to ATG8 (PubMed:33909989). Non-canonical autophagy plays a key role in epithelial cells to limit lethal infection by influenza A (IAV) virus (By similarity). Regulates mitochondrial antiviral signaling (MAVS)-dependent type I interferon (IFN-I) production (PubMed:22749352, PubMed:25645662). Negatively regulates NOD1- and NOD2-driven inflammatory cytokine response (PubMed:24238340). Instead, promotes an autophagy-dependent antibacterial pathway together with NOD1 or NOD2 (PubMed:20637199). Plays a role in regulating morphology and function of Paneth cell (PubMed:18849966)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]., [RefSeq]; WIPI2b recruitment to phagophores and ATG16L1 binding are regulated by ULK1 phosphorylation., [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": 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": 10, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 4, "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": "A3EXK9;A3EXL0;B6ZDH0;Q6IPN1;Q6UXW4;Q6ZVZ5;Q8NCY2;Q96JV5;Q9H619", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0051020 GTPase binding;GO:0019787 ubiquitin-like protein transferase activity;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000421 autophagosome membrane;GO:0005829 cytosol;GO:0030424 axon;GO:0005776 autophagosome", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0015031 protein transport;GO:0051607 defense response to virus;GO:0016236 macroautophagy;GO:0010508 positive regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q676U5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969K4-1", "uniprot_id": [ { "id": "ABTB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969K4", "type": "external" } ], "mass": 53979.0, "length": 478, "protein_name": "Ankyrin repeat and BTB/POZ domain-containing protein 1", "gene_name": "ABTB1", "organism": "Human", "refseq_name": "ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_115937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115937", "type": "external" } ], "gene_names_uniprotkb": "ABTB1; BPOZ; PP2259", "gene_names_refseq": "ABTB1; BPOZ-2; BPOZ; BTB3; BTBD21; EF1ABP; PP2259", "protein_names_uniprotkb": "Ankyrin repeat and BTB/POZ domain-containing protein 1; Elongation factor 1A-binding protein", "protein_names_refseq": "ankyrin repeat and BTB (POZ) domain containing 1; ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 1; elongation factor 1A-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:80325)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10891360;11237011;11494141;15498874;18429817;18459963;22299025;26154972;26992070;27600516;27862975;28832583;28904123;29242379;29393594;29557506;29632711;30429286;30484775;31154438;31844290;31848261;32157095;32357974;32387766;32488085;32938616;32983136;33298915;33912179;33968037;33981976;34509645;35051231;35318648;35580925;36241641;36284347;37938771", "class_list": "", "function": "BPOZ-2 promoted eEF1A1 ubiquitylation and degradation, suggesting that eEF1A1 is a substrate of BPOZ-2., [RefSeq, PubMed]; May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes., [UniProtKB, PubMed, PubMed]; Study showed that BPOZ-2 is a human counterpart of yeast Btb3p, which is a putative adaptor for Pcu3p-based ubiquitin ligase; BPOZ-2 bound to E3 ligase CUL3 in vitro and in vivo., [RefSeq, PubMed]; This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]., [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": 7, "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": "D3DNB0;Q6ZNU9;Q71MF1;Q96S62;Q96S63", "ec_number_list": [], "go_molecular_function": "GO:0003746 translation elongation factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000151 ubiquitin ligase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q969K4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15067-1", "uniprot_id": [ { "id": "ACOX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15067", "type": "external" } ], "mass": 74424.0, "length": 660, "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "gene_name": "ACOX1", "organism": "Human", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "refseq_ac": [ { "id": "NP_001171968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171968", "type": "external" } ], "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "protein_names_uniprotkb": "Peroxisomal acyl-coenzyme A oxidase 1; 1.3.3.6; AOX; Palmitoyl-CoA oxidase; Peroxisomal fatty acyl-CoA oxidase; SCOX; Straight-chain acyl-CoA oxidase", "protein_names_refseq": "acyl-CoA oxidase 1, palmitoyl; acyl-CoA oxidase, straight-chain; acyl-Coenzyme A oxidase 1, palmitoyl; palmitoyl-CoA oxidase; peroxisomal acyl-coenzyme A oxidase 1 isoform c; peroxisomal acyl-coenzyme A oxidase 1; peroxisomal fatty acyl-CoA oxidase; straight-chain acyl-CoA oxidase", "tax_id": 9606, "disease": "peroxisomal acyl-CoA oxidase deficiency (Disease Ontology:DOID:0050797); Mitchell syndrome (Disease Ontology:DOID:0070516); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:51); (R-HSA-9033241); (R-HSA-9033500)", "pathway_count": 3, "publication_count": 176, "publication_id_list": "10022913;10562279;10673331;10903473;11101887;11237011;11546814;11734571;11781871;11815777;11931631;12456682;12559034;12578380;12717447;12885776;15060085;15545321;15858711;16766224;16854980;17007944;17081983;17458872;17603022;17726030;18281296;18359941;18452278;18669648;18712838;19197237;19208625;19584060;19608861;19632994;20068231;20112406;20178365;20195242;21554508;21976670;21980954;22002062;22057399;22371489;22747494;23186163;23481700;23963456;24235149;24275569;24366607;24397554;24714562;24715725;24865970;25016021;25418920;25538232;25576301;25645385;25810538;25854684;26086376;26138649;26154972;26220973;26344566;26375851;26728094;26811146;26929215;26992070;27597759;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28521612;28611990;28765278;28787099;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30573663;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32169171;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33234382;33298915;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34357683;34405274;34509645;34932366;35051231;35149097;35251023;35318648;35580925;35606603;35951481;36010968;36241641;36284347;37846133;37938771;38057495;38838015;40596516;7685190;7719337;7790377;7876265;8040306;8117268;8159712;8824437;8858165;8991089;9089413;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease., [RefSeq, PubMed]; ACOX1-mediated peroxisomal fatty acid oxidation contributes to metabolic reprogramming and survival in chronic lymphocytic leukemia., [RefSeq, PubMed]; Crystal structures of apo- and FAD-bound human peroxisomal acyl-CoA oxidase provide mechanistic basis explaining clinical observations., [RefSeq, PubMed]; Data show that human ACOX1b isoform is more effective than the ACOX1a isoform in reversing the Acox1 null phenotype in the mouse. Erratum:[Lab Invest. 2010 May;90(5):808], [RefSeq, PubMed]; Involved in the initial and rate-limiting step of peroxisomal beta-oxidation of straight-chain saturated and unsaturated very-long-chain fatty acids (VLCFAs) (PubMed:15060085, PubMed:17458872, PubMed:17603022, PubMed:32169171, PubMed:33234382, PubMed:7876265). Catalyzes the desaturation of fatty acyl-CoAs that have a saturated bond between C2 and C3 (2,3-saturated acyl-CoA) to 2-trans-enoyl-CoAs ((2E)-enoyl-CoAs), and donates electrons directly to molecular oxygen (O(2)), thereby producing hydrogen peroxide (H(2)O(2)) (PubMed:17458872, PubMed:17603022, PubMed:7876265). May play a role in peroxisomal beta-oxidation step in polyunsaturated fatty acids (PUFAs) biosynthesis. Possibly regulates systemic levels of docosahexaenoic acid (DHA, C22:6n-3) through a process involving endoplasmic reticulum desaturation and elongation of alpha-linolenic acid (ALA, C18:3n-3) to form tetracosahexaenoic acid (THA, C24:6n-3), which is then beta-oxidized to DHA in peroxisomes (Probable). Involved in VLCFA-dependent hepatic-to-adipose tissue inter-organ signaling in response to diet. Through hepatic beta-oxidation of THA, may regulate THA systemic levels and THA-dependent activation of FFAR4 signaling in adipocytes, limiting adipose tissue thermogenesis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Is active against a much broader range of substrates and shows activity towards long-chain and very-long-chain fatty acyl-CoAs., [UniProtKB, PubMed, PubMed]; MiR-103-3p promotes hepatic steatosis to aggravate nonalcoholic fatty liver disease by targeting of ACOX1., [RefSeq, PubMed]; Shows highest activity against medium-chain fatty acyl-CoAs. Shows optimum activity with a chain length of 10 carbons (decanoyl-CoA) in vitro., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [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, "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K6X8;A8KAA0;B4DK61;F5GYQ8;Q12863;Q15068;Q15101;Q16131;Q7Z3W5;Q9UD31", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", 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"https://www.rhea-db.org/rhea/?query=ec:1.3.1.38", "type": "external" }, { "id": "1.3.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.124", "type": "external" }, { "id": "1.1.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.3.15", "type": "external" }, { "id": "1.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.1", "type": "external" }, { "id": "1.5.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.7", "type": "external" }, { "id": "5.1.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.99.4", "type": "external" }, { "id": "4.1.2.63", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.63", "type": "external" }, { "id": "1.2.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.3.5", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" } ], "go_molecular_function": "GO:0005504 fatty acid binding;GO:0042803 protein homodimerization activity;GO:0050660 flavin adenine dinucleotide binding;GO:0071949 FAD binding;GO:0003997 acyl-CoA oxidase activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005782 peroxisomal matrix;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0000038 very long-chain fatty acid metabolic process;GO:0006091 generation of precursor metabolites and energy;GO:0006629 lipid metabolic process;GO:0009062 fatty acid catabolic process;GO:0016559 peroxisome fission", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "Q15067-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31749-1", "uniprot_id": [ { "id": "AKT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P31749", "type": "external" } ], "mass": 55686.0, "length": 480, "protein_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "organism": "Human", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": [ { "id": "NP_001014431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014431", "type": "external" } ], "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "protein_names_uniprotkb": "RAC-alpha serine/threonine-protein kinase; 2.7.11.1; PKB alpha; PKB; Protein kinase B alpha; Protein kinase B; Proto-oncogene c-Akt; RAC-PK-alpha", "protein_names_refseq": "AKT1m; PKB alpha; RAC-PK-alpha; RAC-alpha serine/threonine-protein kinase; protein kinase B alpha; proto-oncogene c-Akt; rac protein kinase alpha; serine-threonine protein kinase; v-akt murine thymoma viral oncogene homolog 1; v-akt murine thymoma viral oncogene-like protein 1", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); alcohol dependence (Disease Ontology:DOID:0050741); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Cowden syndrome 6 (Disease Ontology:DOID:0081002); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); esophageal carcinoma (Disease Ontology:DOID:1107); alcoholic hepatitis (Disease Ontology:DOID:12351); vulva cancer (Disease Ontology:DOID:1245); Proteus syndrome (Disease Ontology:DOID:13482); 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); pancreatic cancer (Disease Ontology:DOID:1793); impotence (Disease Ontology:DOID:1875); colon cancer (Disease Ontology:DOID:219); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); prostate adenocarcinoma (Disease Ontology:DOID:2526); opiate dependence (Disease Ontology:DOID:2559); pulmonary tuberculosis (Disease Ontology:DOID:2957); invasive ductal carcinoma (Disease Ontology:DOID:3008); carcinoma (Disease Ontology:DOID:305); malignant astrocytoma (Disease Ontology:DOID:3069); bipolar disorder (Disease Ontology:DOID:3312); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); esophageal cancer (Disease Ontology:DOID:5041); ureteral obstruction (Disease Ontology:DOID:5199); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); paraplegia (Disease Ontology:DOID:607); amphetamine abuse (Disease Ontology:DOID:670); hepatocellular carcinoma (Disease Ontology:DOID:684); pancreatic intraductal papillary-mucinous neoplasm (Disease Ontology:DOID:7575); chronic myeloid leukemia (Disease Ontology:DOID:8552); in situ carcinoma (Disease Ontology:DOID:8719); intermediate coronary syndrome (Disease Ontology:DOID:8805); diabetic retinopathy (Disease Ontology:DOID:8947); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:207); (R-HSA-111447); (R-HSA-1257604); (R-HSA-1358803); (R-HSA-1445148); (R-HSA-1474151); (R-HSA-165159); (R-HSA-165181); (R-HSA-198323); (R-HSA-198693); (R-HSA-199418); (R-HSA-203615); (R-HSA-211163); (R-HSA-354192); (R-HSA-3769402); (R-HSA-389357); (R-HSA-389513); (R-HSA-392451); (R-HSA-450385); (R-HSA-450604); (R-HSA-5218920); (R-HSA-5628897); (R-HSA-5674400); (R-HSA-6785807); (R-HSA-6804757); (R-HSA-6804758); (R-HSA-6804759); (R-HSA-6811558); (R-HSA-69202); (R-HSA-69656); (R-HSA-8849469); (R-HSA-8876198); (R-HSA-8941332); (R-HSA-8948751); (R-HSA-9009391); (R-HSA-9604323); (R-HSA-9607240); (R-HSA-9614399); (R-HSA-9634638); (R-HSA-9755511); (R-HSA-9755779); (R-HSA-9841251); (R-HSA-9856530); (R-HSA-9856532)", "pathway_count": 44, 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"class_list": "", "function": "AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis (PubMed:11882383, PubMed:15526160, PubMed:15861136, PubMed:21432781, PubMed:21620960, PubMed:31204173). This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates (PubMed:11882383, PubMed:15526160, PubMed:21432781, PubMed:21620960, PubMed:29343641, PubMed:31204173). Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported (PubMed:11882383, PubMed:15526160, PubMed:21432781, PubMed:21620960). AKT is responsible of the regulation of glucose uptake by mediating insulin-induced translocation of the SLC2A4/GLUT4 glucose transporter to the cell surface (By similarity). Phosphorylation of PTPN1 at 'Ser-50' negatively modulates its phosphatase activity preventing dephosphorylation of the insulin receptor and the attenuation of insulin signaling (By similarity). Phosphorylation of TBC1D4 triggers the binding of this effector to inhibitory 14-3-3 proteins, which is required for insulin-stimulated glucose transport (PubMed:11994271). AKT also regulates the storage of glucose in the form of glycogen by phosphorylating GSK3A at 'Ser-21' and GSK3B at 'Ser-9', resulting in inhibition of its kinase activity (By similarity). Phosphorylation of GSK3 isoforms by AKT is also thought to be one mechanism by which cell proliferation is driven (By similarity). AKT also regulates cell survival via the phosphorylation of MAP3K5 (apoptosis signal-related kinase) (PubMed:11154276). Phosphorylation of 'Ser-83' decreases MAP3K5 kinase activity stimulated by oxidative stress and thereby prevents apoptosis (PubMed:11154276). AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 at 'Ser-939' and 'Thr-1462', thereby activating the mTORC1 signaling pathway, and leading to both phosphorylation of 4E-BP1 and in activation of RPS6KB1 (PubMed:12150915, PubMed:12172553). Also regulates the mTORC1 signaling pathway by catalyzing phosphorylation of CASTOR1 and DEPDC5 (PubMed:31548394, PubMed:33594058). AKT plays a role as key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (By similarity). Part of a positive feedback loop of mTORC2 signaling by mediating phosphorylation of MAPKAP1/SIN1, promoting mTORC2 activation (By similarity). AKT is involved in the phosphorylation of members of the FOXO factors (Forkhead family of transcription factors), leading to binding of 14-3-3 proteins and cytoplasmic localization (PubMed:10358075). In particular, FOXO1 is phosphorylated at 'Thr-24', 'Ser-256' and 'Ser-319' (PubMed:10358075). FOXO3 and FOXO4 are phosphorylated on equivalent sites (PubMed:10358075). AKT has an important role in the regulation of NF-kappa-B-dependent gene transcription and positively regulates the activity of CREB1 (cyclic AMP (cAMP)-response element binding protein) (PubMed:9829964). The phosphorylation of CREB1 induces the binding of accessory proteins that are necessary for the transcription of pro-survival genes such as BCL2 and MCL1 (PubMed:9829964). AKT phosphorylates 'Ser-454' on ATP citrate lyase (ACLY), thereby potentially regulating ACLY activity and fatty acid synthesis (By similarity). Activates the 3B isoform of cyclic nucleotide phosphodiesterase (PDE3B) via phosphorylation of 'Ser-273', resulting in reduced cyclic AMP levels and inhibition of lipolysis (By similarity). Phosphorylates PIKFYVE on 'Ser-318', which results in increased PI(3)P-5 activity (By similarity). The Rho GTPase-activating protein DLC1 is another substrate and its phosphorylation is implicated in the regulation cell proliferation and cell growth (By similarity). Signals downstream of phosphatidylinositol 3-kinase (PI(3)K) to mediate the effects of various growth factors such as platelet-derived growth factor (PDGF), epidermal growth factor (EGF), insulin and insulin-like growth factor 1 (IGF1) (PubMed:12176338, PubMed:12964941). AKT mediates the antiapoptotic effects of IGF1 (By similarity). Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly (PubMed:19934221). May be involved in the regulation of the placental development (By similarity). Phosphorylates STK4/MST1 at 'Thr-120' and 'Thr-387' leading to inhibition of its: kinase activity, nuclear translocation, autophosphorylation and ability to phosphorylate FOXO3 (PubMed:17726016). Phosphorylates STK3/MST2 at 'Thr-117' and 'Thr-384' leading to inhibition of its: cleavage, kinase activity, autophosphorylation at Thr-180, binding to RASSF1 and nuclear translocation (PubMed:20086174). Phosphorylates SRPK2 and enhances its kinase activity towards SRSF2 and ACIN1 and promotes its nuclear translocation (PubMed:19592491). Phosphorylates RAF1 at 'Ser-259' and negatively regulates its activity (PubMed:10576742). Phosphorylation of BAD stimulates its pro-apoptotic activity (PubMed:10926925). Phosphorylates KAT6A at 'Thr-369' and this phosphorylation inhibits the interaction of KAT6A with PML and negatively regulates its acetylation activity towards p53/TP53 (PubMed:23431171). Phosphorylates palladin (PALLD), modulating cytoskeletal organization and cell motility (PubMed:20471940). Phosphorylates prohibitin (PHB), playing an important role in cell metabolism and proliferation (PubMed:18507042). Phosphorylates CDKN1A, for which phosphorylation at 'Thr-145' induces its release from CDK2 and cytoplasmic relocalization (PubMed:16982699). These recent findings indicate that the AKT1 isoform has a more specific role in cell motility and proliferation (PubMed:16139227). Phosphorylates CLK2 thereby controlling cell survival to ionizing radiation (PubMed:20682768). Phosphorylates PCK1 at 'Ser-90', reducing the binding affinity of PCK1 to oxaloacetate and changing PCK1 into an atypical protein kinase activity using GTP as donor (PubMed:32322062). Also acts as an activator of TMEM175 potassium channel activity in response to growth factors: forms the lysoK(GF) complex together with TMEM175 and acts by promoting TMEM175 channel activation, independently of its protein kinase activity (PubMed:32228865). Acts as a regulator of mitochondrial calcium uptake by mediating phosphorylation of MICU1 in the mitochondrial intermembrane space, impairing MICU1 maturation (PubMed:30504268). Acts as an inhibitor of tRNA methylation by mediating phosphorylation of the N-terminus of METTL1, thereby inhibiting METTL1 methyltransferase activity (PubMed:15861136). In response to LPAR1 receptor pathway activation, phosphorylates Rabin8/RAB3IP which alters its activity and phosphorylates WDR44 which induces WDR44 binding to Rab11, thereby switching Rab11 vesicular function from preciliary trafficking to endocytic recycling (PubMed:31204173)., [UniProtKB, UniProtKB, 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, PubMed, PubMed, PubMed, PubMed]; CRLF1 bridges AKT and mTORC2 through SIN1 to inhibit pyroptosis and enhance chemo-resistance in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; NaV1.1 contributes to the cell cycle of human mesenchymal stem cells by regulating AKT and CDK2., [RefSeq, PubMed]; The mitochondrial redistribution of ENOS is regulated by AKT1 and dimer status., [RefSeq, PubMed]; This gene encodes one of the three members of the human AKT serine-threonine protein kinase family which are often referred to as protein kinase B alpha, beta, and gamma. These highly similar AKT proteins all have an N-terminal pleckstrin homology domain, a serine/threonine-specific kinase domain and a C-terminal regulatory domain. These proteins are phosphorylated by phosphoinositide 3-kinase (PI3K). AKT/PI3K forms a key component of many signalling pathways that involve the binding of membrane-bound ligands such as receptor tyrosine kinases, G-protein coupled receptors, and integrin-linked kinase. These AKT proteins therefore regulate a wide variety of cellular functions including cell proliferation, survival, metabolism, and angiogenesis in both normal and malignant cells. AKT proteins are recruited to the cell membrane by phosphatidylinositol 3,4,5-trisphosphate (PIP3) after phosphorylation of phosphatidylinositol 4,5-bisphosphate (PIP2) by PI3K. Subsequent phosphorylation of both threonine residue 308 and serine residue 473 is required for full activation of the AKT1 protein encoded by this gene. Phosphorylation of additional residues also occurs, for example, in response to insulin growth factor-1 and epidermal growth factor. Protein phosphatases act as negative regulators of AKT proteins by dephosphorylating AKT or PIP3. The PI3K/AKT signalling pathway is crucial for tumor cell survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating AKT1 which then phosphorylates and inactivates components of the apoptotic machinery. AKT proteins also participate in the mammalian target of rapamycin (mTOR) signalling pathway which controls the assembly of the eukaryotic translation initiation factor 4F (eIF4E) complex and this pathway, in addition to responding to extracellular signals from growth factors and cytokines, is disregulated in many cancers. Mutations in this gene are associated with multiple types of cancer and excessive tissue growth including Proteus syndrome and Cowden syndrome 6, and breast, colorectal, and ovarian cancers. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 0, "mined_o_glycosites": 4, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 5, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 66, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 1, "disease_count": 47, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RAM5;B7Z5R1;Q9BWB6", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.1.40", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.4.22.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.62", "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": "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": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "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": "3.4.11.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.3", "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:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:1904263 positive regulation of TORC1 signaling;GO:0046209 nitric oxide metabolic process;GO:1902018 negative regulation of cilium assembly;GO:0072752 cellular response to rapamycin", "synthesized_glycan_count": 0, "hit_score": 378.4, "record_id": "P31749-1", "record_type": "protein", "filter_code": "1000000.1100111.100000.000000000001000000.0100010000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46952-1", "uniprot_id": [ { "id": "3HAO_HUMAN", "url": "https://www.uniprot.org/uniprot/P46952", "type": "external" } ], "mass": 32556.0, "length": 286, "protein_name": "3-hydroxyanthranilate 3,4-dioxygenase", "gene_name": "HAAO", "organism": "Human", "refseq_name": "3-hydroxyanthranilate 3,4-dioxygenase", "refseq_ac": [ { "id": "NP_036337", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036337", "type": "external" } ], "gene_names_uniprotkb": "HAAO", "gene_names_refseq": "3-HAO; HAAO; HAO; VCRL1; h3HAO", "protein_names_uniprotkb": "3-hydroxyanthranilate 3,4-dioxygenase; 1.13.11.6; 3-HAO; 3-hydroxyanthranilate oxygenase; 3-hydroxyanthranilic acid dioxygenase; HAD; h3HAO", "protein_names_refseq": "3-hydroxyanthranilate 3,4-dioxygenase; 3-hydroxyanthranilate oxygenase; 3-hydroxyanthranilic acid dioxygenase; HAD", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858); schizophrenia (Disease Ontology:DOID:5419); vertebral, cardiac, renal, and limb defects syndrome 1 (MONDO:MONDO:0060554)", "pathway": " (hsa:23498); (R-HSA-71240)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10049700;10391915;10672018;11237011;12007602;12140278;13069505;15364907;15880762;16376499;16477023;17671174;18056995;18262359;18620547;19338303;21097500;23478338;25418920;25880248;27846572;27862975;27920218;28228285;28375145;28792876;28832583;29242379;29508533;29557506;29632046;29632711;29789417;30315122;30429286;31844290;32357974;32390008;32502341;32983136;33123756;33767242;33912179;34932366;35051231;35362267;35580925;36284347;7514594;7883047;8294935;8666386;9180257", "class_list": "", "function": "3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]., [RefSeq]; Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate., [UniProtKB, HAMAP, PubMed, PubMed, UniProtKB, UniProtKB]; Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion., [RefSeq, PubMed]; Expression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities. Publication Status: Online-Only, [RefSeq, PubMed]; Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation., [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": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NE56;B4DIN2;Q53QZ7;Q8N6N9", "ec_number_list": [ { "id": "1.13.11.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.6", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0000334 3-hydroxyanthranilate 3,4-dioxygenase activity;GO:0008198 ferrous iron binding;GO:0005506 iron ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006569 L-tryptophan catabolic process;GO:0010043 response to zinc ion;GO:0070050 neuron cellular homeostasis;GO:0046686 response to cadmium ion;GO:0009435 NAD+ biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "P46952-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJM3-1", "uniprot_id": [ { "id": "ERRFI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJM3", "type": "external" } ], "mass": 50560.0, "length": 462, "protein_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "organism": "Human", "refseq_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": [ { "id": "NP_061821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061821", "type": "external" } ], "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "protein_names_uniprotkb": "ERBB receptor feedback inhibitor 1; MIG-6; Mitogen-inducible gene 6 protein", "protein_names_refseq": "ERBB receptor feedback inhibitor 1; mitogen-inducible gene 6 protein; receptor-associated late transducer", "tax_id": 9606, "disease": "small intestine carcinoid neuroendocrine tumor (Disease Ontology:DOID:0050925); endometrial cancer (Disease Ontology:DOID:1380); osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:54206)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11003669;11237011;17016520;18046415;18083107;18669648;18691976;18707149;21406692;22505024;22975324;23186163;24004111;24275569;25576301;26280531;28832583;29196224;29331515;29393594;29557506;29574142;30192525;30779550;30833945;31154438;31222486;31844290;32157095;32161166;32357974;32488085;32938616;33298915;33592498;33968037;33981976;34171305;34405274;35051231;35318648;35580925;36241641;36284347;36498921;36715065;37917191;39096122;7641805", "class_list": "", "function": "ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008]., [RefSeq]; Effect of Gene 33/Mig6/ERRFI1 on hexavalent chromium-induced transformation of human bronchial epithelial cells depends on the length of exposure., [RefSeq, PubMed]; MIG-6 Is Critical for Progesterone Responsiveness in Human Complex Atypical Hyperplasia and Early-Stage Endometrial Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MIG-6/RALT is a transcriptionally controlled inhibitor of mitogenic and transforming signals generated by the ErbB-2 oncogene. MIG-6/RALT forms a physical complex with activated ErbB-2 and co-localizes with ErbB-2 in living cells., [RefSeq, PubMed]; MIG6 loss confers resistance to ALK/ROS1 inhibitors in NSCLC through EGFR activation by low-dose EGF. Publication Status: Online-Only, [RefSeq, PubMed]; Negative regulator of EGFR signaling in skin morphogenesis. Acts as a negative regulator for several EGFR family members, including ERBB2, ERBB3 and ERBB4. Inhibits EGFR catalytic activity by interfering with its dimerization. Inhibits autophosphorylation of EGFR, ERBB2 and ERBB4. Important for normal keratinocyte proliferation and differentiation. Plays a role in modulating the response to steroid hormones in the uterus. Required for normal response to progesterone in the uterus and for fertility. Mediates epithelial estrogen responses in the uterus by regulating ESR1 levels and activation. Important for regulation of endometrium cell proliferation. Important for normal prenatal and perinatal lung development (By similarity)., [UniProtKB]; Potentially functional variants of ERRFI1 in hypoxia-related genes predict survival of non-small cell lung cancer patients., [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": 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": 12, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 10, "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": "B2RDX9;Q9NTG9;Q9UD05", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0017124 SH3 domain binding;GO:0019901 protein kinase binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0032869 cellular response to insulin stimulus;GO:0048286 lung alveolus development;GO:0032691 negative regulation of interleukin-1 beta production;GO:0032720 negative regulation of tumor necrosis factor production;GO:0070373 negative regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9UJM3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NW38-1", "uniprot_id": [ { "id": "FANCL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NW38", "type": "external" } ], "mass": 42905.0, "length": 375, "protein_name": "E3 ubiquitin-protein ligase FANCL", "gene_name": "FANCL", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "refseq_ac": [ { "id": "NP_001108108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108108", "type": "external" } ], "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase FANCL; 2.3.2.27; FAAP43; Fanconi anemia group L protein; Fanconi anemia-associated polypeptide of 43 kDa; RING-type E3 ubiquitin transferase FANCL", "protein_names_refseq": "E3 ubiquitin-protein ligase FANCL isoform 1; E3 ubiquitin-protein ligase FANCL; Fanconi anemia complementation group L; PHD finger protein 9; RING-type E3 ubiquitin transferase FANCL; fanconi anemia group L protein; fanconi anemia-associated polypeptide of 43 kDa", "tax_id": 9606, "disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); Fanconi anemia complementation group L (Disease Ontology:DOID:0111082); Fanconi anemia (Disease Ontology:DOID:13636); 46 XX gonadal dysgenesis (Disease Ontology:DOID:14450)", "pathway": " (hsa:55120); (R-HSA-6783310); (R-HSA-9833482)", "pathway_count": 3, "publication_count": 231, "publication_id_list": "10082513;10348343;10400669;10620360;10626894;10648614;10848580;10866685;11096080;11134010;11152499;11156368;11237011;11238103;11238927;11239454;11278865;11313968;11337501;11350938;11438540;11500375;11781817;11909525;11939789;11985496;12231563;12397061;12606378;12724401;12882984;12973351;1373135;14585331;15229216;15299030;15502827;15572677;15737233;15752359;15907845;16116422;16179258;16179259;16373505;16431927;16600570;16717090;16916645;16943440;1695551;16982605;17079286;17196820;17289582;17412408;17460694;17938197;18082604;18096616;18174376;18550849;18835251;18931676;18957415;19111657;19229320;19416861;19561358;19589784;19596236;19710021;19733181;19804757;19838063;19995904;20102227;20347428;20347429;20385554;20395957;20519500;20603015;20603016;20603073;20670894;20671156;20685959;21072047;21123651;21294215;21464321;21518807;21636578;21701511;21764741;21775430;21937648;21978664;21994559;22214662;22258451;22287633;22343915;22396592;2247437;22510687;22645359;22692201;22986343;23084476;23229543;23325218;23481700;23698467;23723247;23732991;23783032;24076221;24347309;24366607;24389026;24623135;24623813;24659800;24714562;24726325;24753571;24905007;25430771;25500724;25576301;25653431;25848059;25880248;25892735;26024233;26375851;26432638;26446704;26488609;26716879;26817845;26992070;27208315;27269119;27423063;27846572;27920218;27974558;28069888;28167698;28218747;28228285;28281686;28514659;28649982;28765891;28832583;28834231;28904123;29170442;29175459;29231267;29242379;29331515;29348664;29394925;29395325;29440070;29493099;29501855;29557506;29769354;30174290;30315122;30429286;30770398;31031002;31844290;32093270;32157095;32350084;32420600;32488085;32502341;32716602;32801355;32938616;33392160;33394227;33633747;33808629;33911136;33912179;33968037;34171305;34174402;34932366;34974812;35051231;35561310;35580925;35685460;35947956;36010968;36215666;36712380;37127961;37451692;7491766;7515177;7545299;7565688;7693978;7737357;7903669;8576172;8576179;8661426;8810342;8910500;9034343;9079663;9442054;9521856;9528799;9687506;9737981;9819388;9920933", "class_list": "", "function": "Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia. Publication Status: Online-Only, [RefSeq, PubMed]; Characterization of FANCL variants observed in patient cancer cells., [RefSeq, PubMed]; Data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2, [RefSeq, PubMed]; FANCL is necessary for primordial germ cell proliferation during the embryonic stage but not necessary for spermatogonia proliferation in adulthood. Thus, mouse FancL-/- males are infertile at 7 to 12 weeks but gain fertility thereafter., [RefSeq, PubMed]; Severe telomere shortening in Fanconi anemia complementation group L., [RefSeq, PubMed]; This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]., [RefSeq]; Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 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": 1, "reported_mutagensis": 16, "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": "Q6GU60", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.10.2", "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": "3.5.4.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.37", "type": "external" }, { "id": "3.5.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.6", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.22.-", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.3.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.91", "type": "external" }, { "id": "2.7.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.91", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031625 ubiquitin protein ligase binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0043240 Fanconi anaemia nuclear complex;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0036297 interstrand cross-link repair;GO:0006513 protein monoubiquitination", "synthesized_glycan_count": 0, "hit_score": 23.2, "record_id": "Q9NW38-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N205-1", "uniprot_id": [ { "id": "SYNE4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N205", "type": "external" } ], "mass": 43512.0, "length": 404, "protein_name": "Nesprin-4", "gene_name": "SYNE4", "organism": "Human", "refseq_name": "nesprin-4 isoform 1", "refseq_ac": [ { "id": "NP_001034965", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034965", "type": "external" } ], "gene_names_uniprotkb": "SYNE4; C19orf46", "gene_names_refseq": "C19orf46; DFNB76; KASH4; Nesp4; SYNE4", "protein_names_uniprotkb": "Nesprin-4; KASH domain-containing protein 4; KASH4; Nuclear envelope spectrin repeat protein 4", "protein_names_refseq": "KASH domain-containing protein 4; deafness, autosomal recessive 76; nesprin-4 isoform 1; nesprin-4; nuclear envelope spectrin repeat protein 4", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 76 (Disease Ontology:DOID:0110524)", "pathway": " (hsa:163183)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;23348741;29557506;31844290;35580925", "class_list": "", "function": "As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Behaves as a kinesin cargo, providing a functional binding site for kinesin-1 at the nuclear envelope. Hence may contribute to the establishment of secretory epithelial morphology by promoting kinesin-dependent apical migration of the centrosome and Golgi apparatus and basal localization of the nucleus (By similarity)., [UniProtKB]; Progressive high-frequency hearing loss in 2 families of Iraqi Jewish ancestry was due to homozygosity for mutation SYNE4 c.228delAT. SYNE4, a gene not previously associated with hearing loss, encodes nesprin-4, a protein expressed in outer hair cells., [RefSeq, PubMed]; This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]., [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": 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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MRS0;A8MYE3;Q7Z7L3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005640 nuclear outer membrane;GO:0034993 meiotic nuclear membrane microtubule tethering complex", "go_biological_process": "GO:0045198 establishment of epithelial cell apical/basal polarity", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N205-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13064-1", "uniprot_id": [ { "id": "MKRN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13064", "type": "external" } ], "mass": 55645.0, "length": 507, "protein_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": [ { "id": "NP_005655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005655", "type": "external" } ], "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase makorin-3; 2.3.2.27; RING finger protein 63; RING-type E3 ubiquitin transferase makorin-3; Zinc finger protein 127", "protein_names_refseq": "E3 ubiquitin-protein ligase makorin-3; RING finger protein 63; RING-type E3 ubiquitin transferase makorin-3; probable E3 ubiquitin-protein ligase makorin-3; zinc finger protein 127", "tax_id": 9606, "disease": "central precocious puberty 2 (Disease Ontology:DOID:0112309)", "pathway": " (hsa:7681)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10196367;11237011;16959974;19066619;23738509;24438377;24628548;25011910;25316453;30315122;30833945;31530632;31844290;33141586;33744966;34171305;34357683;34692086;36728292;36883204;36916482;37092553;38112911;38705397", "class_list": "", "function": "Comparison of Makorin Ring Finger Protein 3 Levels Between Obese and Normal Weight Patients with Central Precocious Puberty., [RefSeq, PubMed]; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Acts as a key developmental timer that helps ensure puberty begins at the appropriate age, by inhibiting premature activation of the reproductive hormone cascade. Epigenetically regulates GNRH1 transcription by disrupting the binding of methyl-DNA binding protein 3/MBD3 to the promoter of GNRH1. Mechanistically, mediates the non-proteolytic ubiquitination of MBD3 at multiple sites with 'Lys27' ubiquitin linkages and thereby regulates the methylation status of the genome, including GNRH1 promoter (PubMed:34692086). Modulates the stability and translation of GNRH1 mRNA by mediating the non-proteolytic ubiquitination of PABP family members PABPC1, PABPC3 and PABPC4 at multiple sites (PubMed:33744966). Also participates in the maintenance of genomic and epigenomic stability by regulating the abundance of APEX2 via 'Lys-48'-linked ubiquitination (PubMed:38705397)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations., [RefSeq, PubMed]; MKRN3 gene is imprinted, with preferential expression from the paternal allele., [RefSeq, PubMed]; MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty. Publication Status: Online-Only, [RefSeq, PubMed]; Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination., [RefSeq, PubMed]; The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [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, "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": 19, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q13064-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ94-1", "uniprot_id": [ { "id": "A1CF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ94", "type": "external" } ], "mass": 65202.0, "length": 594, "protein_name": "APOBEC1 complementation factor", "gene_name": "A1CF", "organism": "Human", "refseq_name": "APOBEC1 complementation factor isoform 1", "refseq_ac": [ { "id": "NP_001185747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185747", "type": "external" } ], "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "protein_names_uniprotkb": "APOBEC1 complementation factor; APOBEC1-stimulating protein", "protein_names_refseq": "APOBEC-1 stimulating protein; APOBEC1 complementation factor isoform 1; apo-B RNA editing protein; apobec-1 complementation factor (ACF) (ASP)", "tax_id": 9606, "disease": "gout (Disease Ontology:DOID:13189)", "pathway": " (hsa:29974); (R-HSA-72200); (R-HSA-75094)", "pathway_count": 3, "publication_count": 30, "publication_id_list": "10669759;10781591;11134005;11237011;11577082;11718896;11871661;12881431;12896982;15659357;24275569;24916387;25576301;27397612;29393594;29557506;30379171;30484775;31154438;31186064;31217245;31530632;31848261;32818382;32938616;33517564;35051231;36284347;38612387;8208612", "class_list": "", "function": "A1CF Binding to the p65 Interaction Site on NKRF Decreased IFN-beta Expression and p65 Phosphorylation (Ser536) in Renal Carcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population., [RefSeq, PubMed]; Essential component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in APOB mRNA. Binds to APOB mRNA and is probably responsible for docking the catalytic subunit, APOBEC1, to the mRNA to allow it to deaminate its target cytosine. The complex also protects the edited APOB mRNA from nonsense-mediated decay., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; High APOBEC1 Complementation Factor Expression Positively Modulates the Proliferation, Invasion, and Migration of Endometrial Cancer Cells Through Regulating P53/P21 Signaling Pathway., [RefSeq, PubMed]; Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]., [RefSeq]; This study revealed that A1CF can upregulate the expression of FAM224A via strengthening its stability, which in turn, influenced the negative modulation of miR-590-3p on transcription factor ZNF143. 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, "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": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 5, "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": "A1L4F2;A8K7G7;B7ZM14;Q5SZQ0;Q9NQ93;Q9NQX8;Q9NQX9;Q9NXC9;Q9NZD3", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0003727 single-stranded RNA binding;GO:0140767 enzyme-substrate adaptor activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0030895 apolipoprotein B mRNA editing enzyme complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0016554 cytidine to uridine editing;GO:0016556 mRNA modification;GO:0050821 protein stabilization;GO:2000623 negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9NQ94-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14678-1", "uniprot_id": [ { "id": "KANK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14678", "type": "external" } ], "mass": 147289.0, "length": 1352, "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "gene_name": "KANK1", "organism": "Human", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "refseq_ac": [ { "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805", "type": "external" } ], "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "protein_names_uniprotkb": "KN motif and ankyrin repeat domain-containing protein 1; Ankyrin repeat domain-containing protein 15; Kidney ankyrin repeat-containing protein", "protein_names_refseq": "KN motif and ankyrin repeat domain-containing protein 1 isoform L; ankyrin repeat domain-containing protein 15; kidney ankyrin repeat-containing protein", "tax_id": 9606, "disease": "spastic quadriplegic cerebral palsy 2 (Disease Ontology:DOID:0081360); spastic quadriplegic cerebral palsy (Disease Ontology:DOID:10970); cancer (Disease Ontology:DOID:162); renal cell carcinoma (Disease Ontology:DOID:4450)", "pathway": " (hsa:23189); (R-HSA-9018519); (R-HSA-9673768)", "pathway_count": 3, "publication_count": 191, "publication_id_list": "10500157;10812249;10828826;10873660;11010967;11034064;11103799;11136970;11165043;11237011;11345900;11410592;11452016;11581164;11682626;12133830;12498683;12612073;12959972;14631847;14675539;15001666;15276198;15282324;15343269;15345050;15514030;15823577;15986123;16009131;16046058;16087863;16113099;16301218;1630819;16690743;16968744;16980581;17013392;17277772;17463000;17495528;17510434;17637753;17666587;17690249;18187655;18219272;18256232;18322535;18358809;18458160;18476782;18533032;18669648;18762174;18805503;19001364;19020303;19098913;19171758;19274700;19295514;19321454;19383337;19559006;19664994;19664995;19690332;19691289;19718048;20068231;20164854;20166139;20219941;20220130;20498280;20570965;20682797;20889717;21106759;21151129;21406692;21445275;21573489;2181374;21835891;21878914;21934649;21940756;22056668;22084092;22265404;22492511;22545144;22704330;23145106;23172872;23186163;23192763;23303788;23403292;23435229;23723241;23906331;24120883;24167369;24275569;24371278;24735615;24854081;24885040;24973012;24998469;25296600;25365482;25433557;25542856;25576301;25633194;25645385;25663755;25674852;25728767;25892735;25961457;26056233;26153859;26204489;26462610;26479350;27062924;27170215;27410476;27600516;27846572;27886276;28010895;28284839;28539435;28834231;29183992;2919170;29242379;29393594;29557506;29632046;29786170;30379171;30429286;3045126;31154438;31844290;31848261;32157095;32387766;3281094;32938616;32983136;33046021;33309958;33537174;33592498;33691108;33968037;33981976;34087483;34185709;34349117;34509645;3498214;35051231;35320976;35580925;36010968;3677090;39531497;7559524;7935485;7937828;8195246;8197458;8419924;8876171;8962143;9201922;9338790;9388265;9611253;9671459;9731700", "class_list": "", "function": "Adapter protein that links structural and signaling protein complexes positioned to guide microtubule and actin cytoskeleton dynamics during cell morphogenesis (PubMed:22084092, PubMed:24120883). At focal adhesions (FAs) rims, organizes cortical microtubule stabilizing complexes (CMSCs) and directly interacts with major FA component TLN1, forming macromolecular assemblies positioned to control microtubule-actin crosstalk at the cell edge (PubMed:24120883, PubMed:27410476). Recruits KIF21A in CMSCs at axonal growth cones and regulates axon guidance by suppressing microtubule growth without inducing microtubule disassembly once it reaches the cell cortex (PubMed:24120883). Interacts with ARFGEF1 and participates in establishing microtubule-organizing center (MTOC) orientation and directed cell movement in wound healing (PubMed:22084092). Regulates actin stress fiber formation and cell migration by inhibiting RHOA activation in response to growth factors; this function involves phosphorylation through PI3K/Akt signaling and may depend on the competitive interaction with 14-3-3 adapter proteins to sequester them from active complexes (PubMed:18458160, PubMed:25961457). Inhibits the formation of lamellipodia but not of filopodia; this function may depend on the competitive interaction with BAIAP2 to block its association with activated RAC1. Inhibits fibronectin-mediated cell spreading; this function is partially mediated by BAIAP2 (PubMed:19171758). In the nucleus, is involved in beta-catenin-dependent activation of transcription (PubMed:16968744). During cell division, may regulate DAAM1-dependent RHOA activation that signals centrosome maturation and chromosomal segregation. May also be involved in contractile ring formation during cytokinesis (By similarity). Potential tumor suppressor for renal cell carcinoma (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Human Kank gene has several alternative first exons., [RefSeq, PubMed]; Identification and Characterization of the Roles of circCASP9 in Gastric Cancer Based on a circRNA-miRNA-mRNA Regulatory Network. Publication Status: Online-Only, [RefSeq, PubMed]; KANK family proteins in cancer. Review article, [RefSeq, PubMed]; KANK1, a candidate tumor suppressor gene, is fused to PDGFRB in an imatinib-responsive myeloid neoplasm with severe thrombocythemia., [RefSeq, PubMed]; KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas. Publication Status: Online-Only, [RefSeq, PubMed]; Kank can bind to beta-catenin and regulate the subcellular distribution of beta-catenin., [RefSeq, PubMed]; Kank is localized to 9p24 and plays a role in cell growth, [RefSeq, PubMed]; TRAIP modulates the IGFBP3/AKT pathway to enhance the invasion and proliferation of osteosarcoma by promoting KANK1 degradation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A2A2W8;D3DRH3;Q5W0W0;Q8IY65;Q8WX74", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:1900028 negative regulation of ruffle assembly;GO:0006351 DNA-templated transcription;GO:0008283 cell population proliferation;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 19.7, "record_id": "Q14678-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q66LE6-1", "uniprot_id": [ { "id": "2ABD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q66LE6", "type": "external" } ], "mass": 52042.0, "length": 453, "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform", "gene_name": "PPP2R2D", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform isoform b", "refseq_ac": [ { "id": "NP_001278239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278239", "type": "external" } ], "gene_names_uniprotkb": "PPP2R2D; KIAA1541", "gene_names_refseq": "B55D; B55delta; MDS026; PPP2R2D", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform; PP2A subunit B isoform B55-delta; PP2A subunit B isoform PR55-delta; PP2A subunit B isoform R2-delta; PP2A subunit B isoform delta", "protein_names_refseq": "protein phosphatase 2 regulatory subunit B, delta; serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform isoform b", "tax_id": 9606, "disease": "autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441)", "pathway": " (hsa:55844); (R-HSA-2465910)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11237011;16600872;18697906;21164013;21164014;21444715;22354989;22539979;23481700;24596207;25816751;26992070;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29568966;30315122;30410026;31020640;31154438;31844290;32157095;32357974;32897879;32938616;33298915;33592498;33968037;34211107;34357683;35580925;38442987", "class_list": "", "function": "MicroRNA-5010-5p ameliorates high-glucose induced inflammation in renal tubular epithelial cells by modulating the expression of PPP2R2D. Publication Status: Online-Only, [RefSeq, PubMed]; PPP2R2D suppresses IL-2 production and Treg function. Publication Status: Online-Only, [RefSeq, PubMed]; Results show that PPP2R2D expression was significantly upregulated at the mRNA and protein levels in gastric cancer (GC) tissues and correlated with poor prognosis. Further evidence demonstrates an oncogenic role of PPP2R2D in GC progression and development through regulation of mTOR., [RefSeq, PubMed]; Substrate-recognition subunit of protein phosphatase 2A (PP2A) that plays a key role in cell cycle by controlling mitosis entry and exit. Involved in chromosome clustering during late mitosis by mediating dephosphorylation of MKI67 (By similarity). The activity of PP2A complexes containing PPP2R2D (PR55-delta) fluctuate during the cell cycle: the activity is high in interphase and low in mitosis (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The -462 G>A variant of PPP2R2D affects NF1 binding to the proximal promoter of PPP2R2D., [RefSeq, PubMed]; The PP2A regulatory subunit PPP2R2D inhibits T-cell proliferation and survival within tumors., [RefSeq, PubMed]; These highly related members of the same subfamily of PP2A regulatory subunits differentially regulate TGF-beta/Activin/Nodal signalling to elicit opposing biological outcomes., [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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "A8KAK0;Q5SQJ2;Q9P1Y7", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0140767 enzyme-substrate adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0000159 protein phosphatase type 2A complex", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0051301 cell division;GO:0010458 exit from mitosis;GO:0051983 regulation of chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q66LE6-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61163-1", "uniprot_id": [ { "id": "ACTZ_HUMAN", "url": "https://www.uniprot.org/uniprot/P61163", "type": "external" } ], "mass": 42614.0, "length": 376, "protein_name": "Alpha-centractin", "gene_name": "ACTR1A", "organism": "Human", "refseq_name": "alpha-centractin", "refseq_ac": [ { "id": "NP_005727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005727", "type": "external" } ], "gene_names_uniprotkb": "ACTR1A; CTRN1", "gene_names_refseq": "ACTR1A; ARP1; Arp1A; CTRN1", "protein_names_uniprotkb": "Alpha-centractin; ARP1; Actin-RPV; Centractin; Centrosome-associated actin homolog", "protein_names_refseq": "ARP1 actin related protein 1 homolog A; ARP1 actin-related protein 1 homolog A, centractin alpha; actin-RPV; alpha-centractin; centractin; centrosome-associated actin homolog; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "Down syndrome (Disease Ontology:DOID:14250); colon cancer (Disease Ontology:DOID:219)", "pathway": " (hsa:10121); (R-HSA-2132295); (R-HSA-2565942); (R-HSA-3371497); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-6807878); (R-HSA-6811436); (R-HSA-8854518)", "pathway_count": 12, "publication_count": 383, "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;11076968;11080672;11172815;11237011;11285137;11306556;11461920;11483508;11529500;11589254;11684289;11689559;11701661;11703931;11726511;11748249;11751894;11790530;11813165;11853874;11956313;12047556;12070132;12078484;12198549;12207013;12221128;12364337;12388752;12401177;12432908;12447383;12634853;12742663;12748383;12781197;12852856;12925777;13486053;13678582;14580337;14654841;14654843;14731593;14742712;1493716;15037235;15159550;1528266;15381148;15483056;15498487;15591061;15616190;15632110;15705883;15728195;15749704;15813748;15878873;15911768;15914536;16030262;16181339;16207721;16242130;1631136;16314391;16357211;16403413;16462731;16618111;16633337;16723730;1680566;16824007;16890155;16912714;16926190;16940185;17142755;17253781;17274799;17283181;17360540;17429068;17451557;17488286;17574030;17591767;17646400;17719545;17760859;17804755;17827179;17927562;17956946;18037885;18046453;18086915;18182008;18215318;18243712;18254226;18283113;18292509;18378770;18477460;18521620;18524849;18566290;18615013;18635947;18641641;18664496;18694559;18801063;18809720;1898986;19004860;19015319;19081074;19109418;19164740;19296914;19359544;1956401;19564404;1957170;19631211;19635840;19753100;19758564;19940019;20006655;20038533;20072699;20230748;20308558;20357002;20399632;20420828;20427317;20558667;20637885;21116285;21158691;21173190;21183720;2121367;21219331;21273506;21347367;21376746;21422230;21441454;21548880;21565611;21620453;21689688;21700222;21725307;21792235;21796517;21844168;2190094;22011577;22013193;22094269;22094468;22130221;22179047;22223895;22266222;22304919;22318716;22327364;22365832;22433123;22433857;22562055;22641346;22653444;22791416;23141531;23141541;23253480;23333653;23348840;23400999;23481700;23530209;23747070;23769972;23783758;23789104;23839779;2391366;23921553;24012426;24053599;24089205;24119662;24231678;24366607;24397554;24469809;24694367;24806965;24891604;24982133;25047611;25233431;25313408;25418920;25436559;25453831;25492864;25532896;25576301;26073023;26154972;26203193;26313416;26375851;26811146;26992070;27462449;27600516;27663436;27726376;27846572;27920218;28083797;28218747;28228285;28301631;28394342;28755533;28832583;28834231;28919297;29242379;29437277;29557506;29786170;30197098;30315122;30410026;30429286;31110491;31141847;31221720;31731497;31826031;31844290;32016915;32157095;32265295;32320027;32350084;32357974;32448030;32488085;32502341;32544881;32938616;32982970;32983136;33298915;33402344;33592498;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34932366;35051231;35138101;35154160;35251023;35318648;35580925;36010968;36240223;36241641;36284347;36580660;37217939;37938771;40596516;40914422;6645495;6891012;7481823;7592972;7650016;7667286;7691276;7696711;7769006;7790358;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8157723;8221884;8253837;8282004;8313912;8397411;8415765;8505331;8560673;8620540;8636227;8642258;8687433;8838651;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": "An important role for ACTR1A in induction of pro-inflammatory cytokines.TLR2 interacts with alpha-centractin., [RefSeq, PubMed]; Part of the ACTR1A/ACTB filament around which the dynactin complex is built. The dynactin multiprotein complex activates the molecular motor dynein for ultra-processive transport along microtubules., [UniProtKB, UniProtKB]; This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R6B0;P42024", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005524 ATP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005938 cell cortex;GO:0070062 extracellular exosome", "go_biological_process": "GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 38.6, "record_id": "P61163-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUJ0-1", "uniprot_id": [ { "id": "ABHEA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUJ0", "type": "external" } ], "mass": 29765.0, "length": 271, "protein_name": "Protein ABHD14A", "gene_name": "ABHD14A", "organism": "Human", "refseq_name": "protein ABHD14A", "refseq_ac": [ { "id": "NP_056222", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056222", "type": "external" } ], "gene_names_uniprotkb": "ABHD14A; PRO4373", "gene_names_refseq": "ABHD14A; DORZ1", "protein_names_uniprotkb": "Protein ABHD14A; 3.-.-.-; Abhydrolase domain-containing protein 14A; Alpha/beta hydrolase domain-containing protein 14A", "protein_names_refseq": "abhydrolase domain-containing protein 14A; alpha/beta hydrolase domain-containing protein 14A; protein ABHD14A", "tax_id": 9606, "disease": "", "pathway": " (hsa:25864)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;14667578;25502872;26992070;28467828;28649982;29242379;29314611;29557506;29632711;30524438;30573663;31217245;31844290;32350084;32502341;33392160;33592498;34357683;35580925", "class_list": "", "function": "Identification and characterization of Mouse Dorz1, along with sequence comparison to a similar protein in human., [RefSeq, PubMed]; Possible role in granule neuron development., [UniProtKB]", "predicted_glycosites": 4, "predicted_n_glycosites": 2, "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXU8;Q9Y3T7", "ec_number_list": [], "go_molecular_function": "GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9BUJ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22760-1", "uniprot_id": [ { "id": "AAAD_HUMAN", "url": "https://www.uniprot.org/uniprot/P22760", "type": "external" } ], "mass": 45734.0, "length": 399, "protein_name": "Arylacetamide deacetylase", "gene_name": "AADAC", "organism": "Human", "refseq_name": "arylacetamide deacetylase", "refseq_ac": [ { "id": "NP_001077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077", "type": "external" } ], "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "protein_names_uniprotkb": "Arylacetamide deacetylase; 3.1.1.3", "protein_names_refseq": "arylacetamide deacetylase (esterase); arylacetamide deacetylase", "tax_id": 9606, "disease": "", "pathway": " (hsa:13); (R-HSA-211945)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10318829;10445380;10945627;11154734;11237011;11422004;12721789;12725862;12732646;1351198;15350128;15492766;15523003;15535985;16614850;16765324;17400359;17936933;18254726;18256025;18285471;19053771;19159218;19339378;19588076;19764817;20007405;20177059;20422440;2043131;20542992;22207054;22415931;22700792;22813719;23542347;23616950;23953689;24125761;24423752;24677340;24900196;25144769;25425164;25446851;25923589;2897122;29557506;31154438;32152082;32171872;32187464;32205870;32210741;34450168;34510815;35051231;35451495;35580925;35681154;37002641;7980644;8063807;8985016;9169443;9367528;9653080", "class_list": "glycogene", "function": "AADAC promotes therapeutic activity of cisplatin and imatinib against ovarian cancer cells., [RefSeq, PubMed]; Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients., [RefSeq, PubMed]; Arylacetamide deacetylase as a determinant of the hydrolysis and activation of abiraterone acetate in mice and humans., [RefSeq, PubMed]; Displays cellular triglyceride lipase activity in liver, increases the levels of intracellular fatty acids derived from the hydrolysis of newly formed triglyceride stores and plays a role in very low-density lipoprotein assembly. Displays serine esterase activity in liver. Deacetylates a variety of arylacetamide substrates, including xenobiotic compounds and procarcinogens, converting them to the primary arylamide compounds and increasing their toxicity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Impact of AADAC gene expression on prognosis in patients with Borrmann type III advanced gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; In vitro deacetylation of N-acetylserotonin by arylacetamide deacetylase., [RefSeq, PubMed]; Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008]., [RefSeq]; Two intrinsic endoplasmic reticulum (ER) proteins, 11beta-hydroxysteroid dehydrogenase, isozyme 1 (11beta-HSD) and the 50-kDa esterase (E3), sharing some amino acid sequence motifs in their N-terminal transmembrane (TM) domains., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "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": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 515, "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": "A8K3L3;D3DNJ6;Q8N1A9", "ec_number_list": [ { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.34", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.26", "type": "external" }, { "id": "3.1.1.116", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.116", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0016298 lipase activity;GO:0003824 catalytic activity;GO:0017171 serine hydrolase activity;GO:0004806 triacylglycerol lipase activity;GO:0019213 deacetylase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0010898 positive regulation of triglyceride catabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P22760-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000100000000.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08043-1", "uniprot_id": [ { "id": "ACTN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08043", "type": "external" } ], "mass": 103241.0, "length": 901, "protein_name": "Alpha-actinin-3", "gene_name": "ACTN3", "organism": "Human", "refseq_name": "alpha-actinin-3 isoform 1", "refseq_ac": [ { "id": "NP_001095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095", "type": "external" } ], "gene_names_uniprotkb": "ACTN3", "gene_names_refseq": "ACTN3D; ACTN3", "protein_names_uniprotkb": "Alpha-actinin-3; Alpha-actinin skeletal muscle isoform 3; F-actin cross-linking protein", "protein_names_refseq": "F-actin cross-linking protein; alpha-actinin skeletal muscle; alpha-actinin-3 isoform 1", "tax_id": 9606, "disease": "focal segmental glomerulosclerosis 1 (Disease Ontology:DOID:0111128); obsolete actn3 deficiency (MONDO:MONDO:0060593)", "pathway": " (hsa:89); (R-HSA-373753); (R-HSA-390522)", "pathway_count": 3, "publication_count": 57, "publication_id_list": "10192379;10393930;10541305;10611248;10747208;11171996;11237011;11340081;11440986;11562357;11733557;12660326;12668668;12846735;12865409;12879365;1339456;14570703;14633607;15331416;15545998;15579503;15634346;15808860;15843475;15886711;15994232;16525419;16543952;16630808;17893108;17923684;18033240;18043716;19443634;20233749;22223895;24715725;25576301;25645385;28832583;29242379;29557506;29706347;31154438;32387766;32897882;33043033;33592498;33600773;35008409;35051231;37217939;37948561;38093640;38540445;39336701", "class_list": "", "function": "ACTN3 XX Genotype Negatively Affects Running Performance and Increases Muscle Injury Incidence in LaLiga Football Players. Publication Status: Online-Only, [RefSeq, PubMed]; Association between Complex ACTN3 and ACE Gene Polymorphisms and Elite Endurance Sports in Koreans: A Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein., [UniProtKB]; Genetic polymorphisms in the angiotensin converting enzyme, actinin 3 and paraoxonase 1 genes in women with diabetes and hypertension., [RefSeq, PubMed]; Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes., [RefSeq, PubMed]; This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2024]., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "A6NP77;Q4KKV2", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0042802 identical protein binding;GO:0051015 actin filament binding;GO:0044325 transmembrane transporter binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0005903 brush border;GO:0005925 focal adhesion", "go_biological_process": "GO:1901078 negative regulation of relaxation of muscle;GO:0030036 actin cytoskeleton organization;GO:0014728 regulation of the force of skeletal muscle contraction;GO:0014732 skeletal muscle atrophy;GO:0014883 transition between fast and slow fiber", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q08043-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14060-1", "uniprot_id": [ { "id": "3BHS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P14060", "type": "external" } ], "mass": 42252.0, "length": 373, "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1", "gene_name": "HSD3B1", "organism": "Human", "refseq_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1", "refseq_ac": [ { "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853", "type": "external" } ], "gene_names_uniprotkb": "HSD3B1; 3BH; HSDB3A", "gene_names_refseq": "3BETAHSD; HSD3B1; HSD3B; HSDB3A; HSDB3; SDR11E1", "protein_names_uniprotkb": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1; 1.1.1.145; 1.1.1.210; 1.1.1.270; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I; 3-beta-HSD I; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; 3-beta-hydroxysteroid 3-dehydrogenase; 5.3.3.1; Delta-5-3-ketosteroid isomerase; Dihydrotestosterone oxidoreductase; Steroid Delta-isomerase; Trophoblast antigen FDO161G", "protein_names_refseq": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I; 3-beta-HSD I; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; 3-beta-hydroxysteroid 3-dehydrogenase; delta-5-3-ketosteroid isomerase; dihydrotestosterone oxidoreductase; progesterone reductase; short chain dehydrogenase/reductase family 11E, member 1; steroid Delta-isomerase; trophoblast antigen FDO161G", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); polycystic ovary syndrome (Disease Ontology:DOID:11612); hyperprolactinemia (Disease Ontology:DOID:12700); hypothyroidism (Disease Ontology:DOID:1459); hypogonadism (Disease Ontology:DOID:1924); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:3283); (R-HSA-193048); (R-HSA-193993); (R-HSA-194002)", "pathway_count": 4, "publication_count": 46, "publication_id_list": "10391209;10406467;11237011;1279965;12832414;1401999;1712709;17986282;18318566;1885595;1920284;1944309;1944596;19879888;19936164;2082186;2139411;2197970;2243100;2339109;24715725;2534550;25961201;2770297;2779585;2889032;30379171;3038528;31844290;3207614;3299377;33091337;33392160;3487786;37132223;37274334;3783591;37966114;38506808;38506812;7195404;8075637;8547185;9208814;9536209;9871428", "class_list": "", "function": "A bifunctional enzyme responsible for the oxidation and isomerization of 3beta-hydroxy-Delta(5)-steroid precursors to 3-oxo-Delta(4)-steroids, an essential step in steroid hormone biosynthesis. Specifically catalyzes the conversion of pregnenolone to progesterone, 17alpha-hydroxypregnenolone to 17alpha-hydroxyprogesterone, dehydroepiandrosterone (DHEA) to 4-androstenedione, and androstenediol to testosterone. Additionally, catalyzes the interconversion between 3beta-hydroxy and 3-oxo-5alpha-androstane steroids controlling the bioavalability of the active forms. Specifically converts dihydrotestosterone to its inactive form 5alpha-androstanediol, that does not bind androgen receptor/AR. Also converts androstanedione, a precursor of testosterone and estrone, to epiandrosterone (PubMed:1401999, PubMed:2139411). Expected to use NAD(+) as preferred electron donor for the 3beta-hydroxy-steroid dehydrogenase activity and NADPH for the 3-ketosteroid reductase activity (Probable)., [UniProtKB, PubMed, PubMed]; Adrenal-Permissive Germline HSD3B1 Allele and Prostate Cancer Outcomes. Publication Status: Online-Only, [RefSeq, PubMed]; Adrenal-Permissive HSD3B1 Genotype-An Invisible Stimulator of Prostate Cancer Mortality. Publication Status: Online-Only, [RefSeq, PubMed]; HSD3B1 is an oxysterol 3beta-hydroxysteroid dehydrogenase in human placenta., [RefSeq, PubMed]; High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians. Publication Status: Online-Only, [RefSeq, PubMed]; Intratumoral androgen biosynthesis associated with 3beta-hydroxysteroid dehydrogenase 1 promotes resistance to radiotherapy in prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016]., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K691;Q14545;Q8IV65", "ec_number_list": [ { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" }, { "id": "1.1.1.209", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.209", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "1.1.1.270", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.270", "type": "external" }, { "id": "1.1.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.145", "type": "external" }, { "id": "5.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.1", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.225", "type": "external" }, { "id": "1.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.357", "type": "external" }, { "id": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" } ], "go_molecular_function": "GO:0003854 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity;GO:0004769 steroid Delta-isomerase activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0000253 3-beta-hydroxysteroid 3-dehydrogenase (NADP+) activity;GO:0047024 5-alpha-androstane-3-beta,17-beta-diol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006694 steroid biosynthetic process;GO:0006702 androgen biosynthetic process;GO:0006703 estrogen biosynthetic process;GO:0008207 C21-steroid hormone metabolic process;GO:0006701 progesterone biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "P14060-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62736-1", "uniprot_id": [ { "id": "ACTA_HUMAN", "url": "https://www.uniprot.org/uniprot/P62736", "type": "external" } ], "mass": 42009.0, "length": 377, "protein_name": "Actin, aortic smooth muscle", "gene_name": "ACTA2", "organism": "Human", "refseq_name": "actin, aortic smooth muscle isoform 1", "refseq_ac": [ { "id": "NP_001135417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135417", "type": "external" } ], "gene_names_uniprotkb": "ACTA2; ACTSA; ACTVS; GIG46", "gene_names_refseq": "ACTA2; ACTSA; SMDYS", "protein_names_uniprotkb": "Actin, aortic smooth muscle; 3.6.4.-; Alpha-actin-2; Cell growth-inhibiting gene 46 protein", "protein_names_refseq": "actin, alpha 2, smooth muscle, aorta; actin, aortic smooth muscle isoform 1; actin, aortic smooth muscle; alpha-cardiac actin; cell growth-inhibiting gene 46 protein", "tax_id": 9606, "disease": "rheumatic heart disease (Disease Ontology:DOID:0050827); Baraitser-Winter syndrome 1 (Disease Ontology:DOID:0081112); autosomal dominant nonsyndromic deafness 20 (Disease Ontology:DOID:0110550); intestinal atresia (Disease Ontology:DOID:10486); Moyamoya disease (Disease Ontology:DOID:13099); patent ductus arteriosus (Disease Ontology:DOID:13832); thoracic aortic aneurysm (Disease Ontology:DOID:14004); lymphedema (Disease Ontology:DOID:4977); multisystemic smooth muscle dysfunction syndrome (MONDO:MONDO:0013452)", "pathway": " (hsa:59); (R-HSA-445355); (R-HSA-9013695); (R-HSA-9764561); (R-HSA-9913351); (R-HSA-9927432); (R-HSA-9958825)", "pathway_count": 7, "publication_count": 174, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10189375;10441321;10545507;10893187;10932245;10942431;10991994;11237011;11242081;11352924;11430802;11457814;11495720;11532985;11889009;12048254;12189167;1319059;14506282;14627618;14672936;15004565;15175026;15377279;15531924;156362;16524571;16548883;17055381;17081983;17905726;17994018;18239137;18369606;18555777;18764929;18974361;19015515;19117535;1930128;19346169;19380584;19409525;19413330;19639654;19664995;19946898;20044576;20220067;20371349;20734336;20804727;20970362;2183031;21872626;21993680;22036506;22117219;22159078;22223806;22223895;22421042;22778174;2295650;23783831;23834404;2405250;24714562;24872348;2526655;25418920;25505266;25645385;25802875;25892735;2612915;26154972;26228148;26362469;26375851;26387946;26758079;26801977;26934405;2701935;27452731;27481187;27600516;2764880;27679490;27920218;28063628;28218747;28228285;28317937;28514659;28649982;28741090;28832583;28904123;29146722;29242379;29314611;29331515;29351928;29393594;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30315122;30397120;30429286;30484775;30524438;30626964;31844290;32157095;32357974;32387766;32488085;32502341;3282674;33091337;33392160;33592498;34215617;36284347;37217939;3780718;37938771;38044429;38153414;38316882;38665916;38938104;40596516;6330528;7510216;7512451;7527495;7547961;7592992;7844150;7925941;8043271;8140422;8234276;8268918;8349731;8576247;8607994;8626374;8627307;8662591;8662795;8798547;8845841;8858389;9214383;9405466;9412493;9481611;9598563;9600334;9652404;9855623;9864373", "class_list": "", "function": "A highly penetrant ACTA2 mutation of thoracic aortic disease. Publication Status: Online-Only, [RefSeq, PubMed]; ACTA2 mutations are associated with structural disruption and functional impairment of contractile proteins, and predispose to a variety of diffuse vascular diseases including TAAD, CAD, ischemic strokes, and Moyamoya disease. Vascular SMCs are also implicated in vascular remodeling in both physiological and pathological conditions. Review article, [RefSeq, PubMed]; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells., [UniProtKB]; Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model., [RefSeq, PubMed]; Expression of CD31, CD34, and smooth muscle actin (SMA) in endothelial cells of dental pulp vessels. Publication Status: Online-Only, [RefSeq, PubMed]; The Importance of Stroma and Stromal SMA Expression in Pancreatic Ductal Adenocarcinoma., [RefSeq, PubMed]; This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]., [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": 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, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 9, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R8A4;P03996;P04108;Q6FI19", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.2.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.19", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.4.24.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005524 ATP binding;GO:0016787 hydrolase activity;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0030027 lamellipodium", "go_biological_process": "GO:2000491 positive regulation of hepatic stellate cell activation;GO:0006936 muscle contraction;GO:0010628 positive regulation of gene expression;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "P62736-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPB9-1", "uniprot_id": [ { "id": "ACKR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPB9", "type": "external" } ], "mass": 39914.0, "length": 350, "protein_name": "Atypical chemokine receptor 4", "gene_name": "ACKR4", "organism": "Human", "refseq_name": "atypical chemokine receptor 4", "refseq_ac": [ { "id": "NP_057641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057641", "type": "external" } ], "gene_names_uniprotkb": "ACKR4; CCBP2; CCR11; CCRL1; VSHK1", "gene_names_refseq": "ACKR4; CC-CKR-11; CCBP2; CCR-11; CCR10; CCR11; CCRL1; CCX CKR; CCX-CKR; CKR-11; PPR1; VSHK1", "protein_names_uniprotkb": "Atypical chemokine receptor 4; C-C CKR-11; C-C chemokine receptor type 11; CC chemokine receptor-like 1; CC-CKR-11; CCR-11; CCRL1; CCX CKR", "protein_names_refseq": "C-C CKR-11; C-C chemokine receptor type 11; CC chemokine receptor-like 1; atypical chemokine receptor 4; chemocentryx chemokine receptor; chemokine (C-C motif) receptor-like 1; chemokine, cc motif, receptor-like protein 1; orphan seven-transmembrane receptor, chemokine related", "tax_id": 9606, "disease": "", "pathway": " (hsa:51554); (R-HSA-380108)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10229797;10640743;10706668;10725696;10725697;10734104;10767544;10781587;11060282;11237011;11981810;12149255;12554737;12884299;15067078;16107333;1744577;1840701;1891716;20002784;20373092;2078213;2217207;22698181;23121557;23341447;23356288;23481700;2423119;27846572;28489076;2970963;3098319;3260265;33374792;34102193;35051231;35108538;37449198;38597217;7602097;7622448;7642634;7679328;7851893;7875320;8048929;8383238;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518", "class_list": "", "function": "Atypical chemokine receptor 4 (ACKR4/CCX-CKR): A comprehensive exploration across physiological and pathological landscapes in contemporary research. Review article, [RefSeq, PubMed]; Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CCL2, CCL8, CCL13, CCL19, CCL21 and CCL25. Chemokine-binding does not activate G protein-mediated signal transduction but instead induces beta-arrestin recruitment, leading to ligand internalization. Plays an important role in controlling the migration of immune and cancer cells that express chemokine receptors CCR7 and CCR9, by reducing the availability of CCL19, CCL21, and CCL25 through internalization. Negatively regulates CXCR3-induced chemotaxis. Regulates T-cell development in the thymus., [UniProtKB, PubMed, PubMed, PubMed]; Biphasic Expression of Atypical Chemokine Receptor (ACKR) 2 and ACKR4 in Colorectal Neoplasms in Association with Histopathological Findings. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of ACKR4 as an immune checkpoint in pulmonary arterial hypertension. Erratum:[Front Immunol. 2024 Feb 20;15:1382832. doi: 10.3389/fimmu.2024.1382832. PMID: 38444849] Publication Status: Online-Only, [RefSeq, PubMed]; Mechanosensitive ACKR4 scavenges CCR7 chemokines to facilitate T cell de-adhesion and passive transport by flow in inflamed afferent lymphatics., [RefSeq, PubMed]; The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013]., [RefSeq]; The relation between ACKR4 and CCR7 genes expression and breast cancer metastasis., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "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": 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": 10, "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": "B2R9U7", "ec_number_list": [], "go_molecular_function": "GO:0004950 chemokine receptor activity;GO:0005044 scavenger receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0019957 C-C chemokine binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0055037 recycling endosome;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0019722 calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9NPB9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31937-1", "uniprot_id": [ { "id": "3HIDH_HUMAN", "url": "https://www.uniprot.org/uniprot/P31937", "type": "external" } ], "mass": 35329.0, "length": 336, "protein_name": "3-hydroxyisobutyrate dehydrogenase, mitochondrial", "gene_name": "HIBADH", "organism": "Human", "refseq_name": "3-hydroxyisobutyrate dehydrogenase, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_689953", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689953", "type": "external" } ], "gene_names_uniprotkb": "HIBADH", "gene_names_refseq": "HIBADH; NS5ATP1", "protein_names_uniprotkb": "3-hydroxyisobutyrate dehydrogenase, mitochondrial; 1.1.1.31; HIBADH", "protein_names_refseq": "3'-hydroxyisobutyrate dehydrogenase; 3-hydroxyisobutyrate dehydrogenase, mitochondrial isoform 1 precursor; 3-hydroxyisobutyrate dehydrogenase, mitochondrial; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:11112); (R-HSA-70895)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10832746;10947204;11013134;11181649;11237011;11264579;11406611;11738050;12269802;12359132;12434311;12696021;13416257;14752098;15166214;1527093;15342248;15576032;16023992;16141215;16466957;17371050;20068231;22291014;22956686;23423614;23485643;24449431;26251176;28100784;28904123;29557506;3082934;31435015;31844290;32157095;32488085;32938616;33968037;33981976;34357683;3597357;38253038;38665916;40596516;6928646;7356336;8313870;8824301;9165094;9214289;9889013", "class_list": "", "function": "HIBADH is involved in the mitochondrial function of spermatozoa, and maintains sperm motility. It may serve as a sperm-motility marker., [RefSeq, PubMed]; This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q546Z2;Q9UDN3", "ec_number_list": [ { "id": "1.1.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.31", "type": "external" } ], "go_molecular_function": "GO:0051287 NAD binding;GO:0008442 3-hydroxyisobutyrate dehydrogenase activity;GO:0050661 NADP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006574 L-valine catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "P31937-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96I13-1", "uniprot_id": [ { "id": "ABHD8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96I13", "type": "external" } ], "mass": 47331.0, "length": 439, "protein_name": "Protein ABHD8", "gene_name": "ABHD8", "organism": "Human", "refseq_name": "protein ABHD8", "refseq_ac": [ { "id": "NP_078803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078803", "type": "external" } ], "gene_names_uniprotkb": "ABHD8", "gene_names_refseq": "ABHD8", "protein_names_uniprotkb": "Protein ABHD8; 3.-.-.-; Abhydrolase domain-containing protein 8; Alpha/beta hydrolase domain-containing protein 8", "protein_names_refseq": "abhydrolase domain-containing protein 8; alpha/beta hydrolase domain-containing protein 8; protein ABHD8", "tax_id": 9606, "disease": "", "pathway": " (hsa:79575)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;22544926;25418920;27862975;28228285;28904123;29314611;29393594;30315122;31154438;31530632;31844290;32265295;32357974;32387766;32938616;33298915;33392160;33592498;33717175;33968037;34509645;35580925;36010968;39225180", "class_list": "", "function": "Negatively regulates NLRP3-driven inflammation (PubMed:39225180). Promotes NLRP3 degradation through the chaperone-mediated autophagy (CMA) pathway, hence attenuating inflammasome activation and IL1B secretion. Acts by recruiting palmitoyltransferase ZDHHC12 to NLRP3, facilitating NLRP3 palmitoylation and subsequent degradation (PubMed:39225180)., [UniProtKB, PubMed]; This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]., [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": 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": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9HAE9", "ec_number_list": [], "go_molecular_function": "GO:0042171 lysophosphatidic acid acyltransferase activity;GO:0052689 carboxylic ester hydrolase activity;GO:0004620 phospholipase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006654 phosphatidic acid biosynthetic process;GO:0006954 inflammatory response;GO:0055088 lipid homeostasis;GO:1900226 negative regulation of NLRP3 inflammasome complex assembly", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q96I13-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26439-1", "uniprot_id": [ { "id": "3BHS2_HUMAN", "url": "https://www.uniprot.org/uniprot/P26439", "type": "external" } ], "mass": 42052.0, "length": 372, "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2", "gene_name": "HSD3B2", "organism": "Human", "refseq_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2", "refseq_ac": [ { "id": "NP_000189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000189", "type": "external" } ], "gene_names_uniprotkb": "HSD3B2; HSDB3B", "gene_names_refseq": "HSD3B2; HSD3B; HSDB; SDR11E2", "protein_names_uniprotkb": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; 3-beta-HSD II; 3-beta-HSD adrenal and gonadal type; 3-beta-hydroxy-5-ene steroid dehydrogenase; Delta-5-3-ketosteroid isomerase; Progesterone reductase", "protein_names_refseq": "3 beta-HSD type II; 3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; 3-beta-HSD II; 3-beta-HSD adrenal and gonadal type; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; delta 5-delta 4-isomerase type II; progesterone reductase; short chain dehydrogenase/reductase family 11E, member 2", "tax_id": 9606, "disease": "congenital adrenal hyperplasia (Disease Ontology:DOID:0050811); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); hypospadias (Disease Ontology:DOID:10892); polycystic ovary syndrome (Disease Ontology:DOID:11612); hyperprolactinemia (Disease Ontology:DOID:12700)", "pathway": " (hsa:3284); (R-HSA-193048); (R-HSA-193993); (R-HSA-194002)", "pathway_count": 4, "publication_count": 58, "publication_id_list": "10406467;10599696;10651755;10843183;11237011;12050213;1279965;12832414;1363812;14764797;1712709;1741954;17986282;18252794;18318566;1885595;1944309;1944596;19879888;19936164;2197970;2243100;22579964;2339109;25322271;2534550;25961201;2770297;2889032;29664547;29874863;3038528;3207614;3299377;3487786;35051231;36553457;37274334;3783591;38253038;7195404;7588414;7608265;7633426;7633460;7833923;7893703;7962268;8060486;8075637;8126127;8185809;8316254;8547185;9208814;9536209;9719627;9871428", "class_list": "", "function": "3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids., [UniProtKB, PubMed]; Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia. Publication Status: Online-Only, [RefSeq, PubMed]; High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians. Publication Status: Online-Only, [RefSeq, PubMed]; Independent silencing of CRY1 and CRY2 genes in HAC15 cells resulted in a mild upregulation of HSD3B2 without affecting HSD3B1 expression. In conclusion, our results support the hypothesis that CRY1 and CRY2, being AngII-regulated genes, and showing a differential expression in APAs when compared with the adjacent adrenal cortex, might be involved in adrenal cell function, and in the regulation of aldosterone production Publication Status: Online-Only, [RefSeq, PubMed]; Observed significant increase in HSD3B2 and ESR1 transcripts in follicular eutropic endometrium from infertile women with endometriosis may be related to abnormal biological effect of E2 in endometrium, further affecting the development of human embryos., [RefSeq, PubMed]; The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2RRA5;Q16010;Q53GD4;Q6AI10;Q6LDB9;Q99890;Q9UD08", "ec_number_list": [ { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "1.1.1.270", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.270", "type": "external" }, { "id": "1.1.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.145", "type": "external" }, { "id": "5.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.1", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" } ], "go_molecular_function": "GO:0003854 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity;GO:0004769 steroid Delta-isomerase activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0006694 steroid biosynthetic process;GO:0006702 androgen biosynthetic process;GO:0008207 C21-steroid hormone metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "P26439-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28330-1", "uniprot_id": [ { "id": "ACADL_HUMAN", "url": "https://www.uniprot.org/uniprot/P28330", "type": "external" } ], "mass": 47656.0, "length": 430, "protein_name": "Long-chain specific acyl-CoA dehydrogenase, mitochondrial", "gene_name": "ACADL", "organism": "Human", "refseq_name": "long-chain specific acyl-CoA dehydrogenase, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001599", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001599", "type": "external" } ], "gene_names_uniprotkb": "ACADL", "gene_names_refseq": "ACAD4; ACADL; LCAD", "protein_names_uniprotkb": "Long-chain specific acyl-CoA dehydrogenase, mitochondrial; 1.3.8.7; 1.3.8.8; LCAD; Medium-chain acyl-CoA dehydrogenase, mitochondrial", "protein_names_refseq": "acyl-Coenzyme A dehydrogenase, long chain; long-chain acyl-CoA dehydrogenase; long-chain specific acyl-CoA dehydrogenase, mitochondrial precursor; long-chain specific acyl-CoA dehydrogenase, mitochondrial; medium-chain acyl-CoA dehydrogenase, mitochondrial", "tax_id": 9606, "disease": "very long chain acyl-CoA dehydrogenase deficiency (Disease Ontology:DOID:0080155)", "pathway": " (hsa:33); (R-HSA-77285); (R-HSA-77288); (R-HSA-77310)", "pathway_count": 4, "publication_count": 19, "publication_id_list": "13295225;13295248;1540149;1550553;17564966;1774065;21237683;24591516;26474213;31844290;32389575;33968037;36929466;37151879;38594588;38839792;8155643;8687463;8823175", "class_list": "", "function": "ACADL suppresses PD-L1 expression to prevent cancer immune evasion by targeting Hippo/YAP signaling in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Bulk and single-cell transcriptome profiling reveal extracellular matrix mechanical regulation of lipid metabolism reprograming through YAP/TEAD4/ACADL axis in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the first of the four reactions of the mitochondrial fatty acid beta-oxidation (FAO) pathway, which consists in the proR-proR stereospecific alpha, beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor, resulting in the formation of trans-2-enoyl-CoA ((2E)-enoyl-CoA) (PubMed:17564966, PubMed:21237683, PubMed:24591516, PubMed:32389575). The mitochondrial FAO pathway is the major energy-producing process in tissues and is performed through cycles of four consecutive reactions (PubMed:17564966, PubMed:26474213). Each FAO cycle shortens the fatty acyl-CoA by two carbons, yielding one acetyl-CoA (for the citric acid cycle), one FADH(2), and one NADH (which donate electrons to the respiratory chain for ATP production) (PubMed:17564966, PubMed:26474213). Among the different mitochondrial acyl-CoA dehydrogenases, long-chain specific acyl-CoA dehydrogenase activity overlaps with that of ACADV and ACAD9, acting on saturated and unsaturated acyl-CoAs with 6 to 24 carbons with a preference for 8 to 18 carbons long primary chains (PubMed:17564966, PubMed:21237683, PubMed:32389575, PubMed:8823175). Can use (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate as substrate in vitro (which is not primarily used for energy but mainly beta-oxidized in the peroxisomes) (PubMed:17564966, PubMed:26474213). In addition, based on its established catalytic mechanism, and combined genetic interaction or mutant phenotype evidence, it is predicted to act also on substrates that have not been tested experimentally but are metabolized by mitochondrial FAO, including long-chain unsaturated fatty acids such as linoleate (9Z,12Z-octadecadienoate), linolenate (9Z,12Z,15Z-octadecatrienoate), and others (PubMed:26474213). Plays a primary role in FAO in tissues where it is the main long-chain ACAD expressed, such as the lung, specifically in type 2 alveolar cells (responsible for surfactant production) (PubMed:17564966, PubMed:24591516). Probably responsible for beta-oxidation of bulky substrates including branched chain fatty acyl-CoAs and sterol derivatives thanks to its enlarged substrate-binding cavity (PubMed:38839792)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Fatty acyl-coenzyme A activates mitochondrial division through oligomerization of MiD49 and MiD51., [RefSeq, PubMed]; The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [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, "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": 1, "reported_glycation": 0, "reported_snv": 5, "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": "B2R8T3;Q8IUN8", "ec_number_list": [ { "id": "1.3.8.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.7", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.4", "type": "external" }, { "id": "1.3.8.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.8", "type": "external" }, { "id": "4.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.17", "type": "external" }, { "id": "1.1.1.211", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.211", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "1.3.8.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.9", "type": "external" } ], "go_molecular_function": "GO:0004466 long-chain fatty acyl-CoA dehydrogenase activity;GO:0042803 protein homodimerization activity;GO:0050660 flavin adenine dinucleotide binding;GO:0070991 medium-chain fatty acyl-CoA dehydrogenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0001659 temperature homeostasis;GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase;GO:0045717 negative regulation of fatty acid biosynthetic process;GO:0046322 negative regulation of fatty acid oxidation;GO:0090181 regulation of cholesterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "P28330-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36896-1", "uniprot_id": [ { "id": "ACV1B_HUMAN", "url": "https://www.uniprot.org/uniprot/P36896", "type": "external" } ], "mass": 56807.0, "length": 505, "protein_name": "Activin receptor type-1B", "gene_name": "ACVR1B", "organism": "Human", "refseq_name": "activin receptor type-1B isoform a precursor", "refseq_ac": [ { "id": "NP_004293", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004293", "type": "external" } ], "gene_names_uniprotkb": "ACVR1B; ACVRLK4; ALK4", "gene_names_refseq": "ACTRIB; ACVR1B; ACVRLK4; ALK4; SKR2", "protein_names_uniprotkb": "Activin receptor type-1B; 2.7.11.30; ACTR-IB; ALK-4; Activin receptor type IB; Activin receptor-like kinase 4; SKR2; Serine/threonine-protein kinase receptor R2", "protein_names_refseq": "activin A receptor, type IB; activin A receptor, type II-like kinase 4; activin receptor type-1B isoform a precursor; activin receptor-like kinase 4; serine/threonine-protein kinase receptor R2", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); malignant mesothelioma (Disease Ontology:DOID:1790); pancreatic cancer (Disease Ontology:DOID:1793); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung small cell carcinoma (Disease Ontology:DOID:5409)", "pathway": " (hsa:91); (R-HSA-1181150); (R-HSA-1433617); (R-HSA-1502540)", "pathway_count": 4, "publication_count": 84, "publication_id_list": "10067895;10473623;10822381;10934479;11024047;11117535;11237011;11266516;11294908;11389842;11485994;11779503;11779505;11909953;12023024;12063393;12112843;12364468;12592392;12639945;12665502;14978253;15062104;15087470;15123686;15150278;15350224;15485907;15531507;16140969;16260601;16720724;17272273;17344846;17906079;18039968;18166170;18951876;19114992;20226172;20596523;20694664;21356369;21377836;21383881;21532621;21791611;25603319;27600516;28218747;28832583;28834231;29242379;29557506;29632711;29786170;30410026;31154438;31844290;31848261;32387766;32488085;32938616;33968037;35051231;35323108;36241641;36284347;36403856;37020544;37217939;8058741;8196624;8397373;8622651;8721982;8878477;9032295;9288972;9311995;9459292;9670020;9702198;9892009", "class_list": "", "function": "Abundance of ACVR1B transcript is elevated during septic conditions: Perspectives obtained from a hands-on reductionist investigation. Publication Status: Online-Only, [RefSeq, PubMed]; Activin receptor ALK4 promotes adipose tissue hyperplasia by suppressing differentiation of adipocyte precursors., [RefSeq, PubMed]; Lack of Tgfbr1 and Acvr1b synergistically stimulates myofibre hypertrophy and accelerates muscle regeneration. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]., [RefSeq]; Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 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": 8, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z5L8;B7Z5W5;Q15479;Q15480;Q15481;Q15482", "ec_number_list": [ { "id": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0031625 ubiquitin protein ligase binding;GO:0004675 transmembrane receptor protein serine/threonine kinase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex;GO:0048179 activin receptor complex;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0006355 regulation of DNA-templated transcription;GO:0046777 protein autophosphorylation;GO:0071363 cellular response to growth factor stimulus", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "P36896-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P86434-1", "uniprot_id": [ { "id": "AAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P86434", "type": "external" } ], "mass": 17238.0, "length": 159, "protein_name": "Putative uncharacterized protein ADORA2A-AS1", "gene_name": "ADORA2A-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ADORA2A-AS1; C22orf45", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ADORA2A-AS1; ADORA2A antisense RNA 1; ADORA2A antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "19726446;25505266;35051231", "class_list": "", "function": "", "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": 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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P86434-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13541-1", "uniprot_id": [ { "id": "4EBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13541", "type": "external" } ], "mass": 12580.0, "length": 118, "protein_name": "Eukaryotic translation initiation factor 4E-binding protein 1", "gene_name": "EIF4EBP1", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 4E-binding protein 1", "refseq_ac": [ { "id": "NP_004086", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004086", "type": "external" } ], "gene_names_uniprotkb": "EIF4EBP1", "gene_names_refseq": "4E-BP1; 4EBP1; BP-1; EIF4EBP1; PHAS-I", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 4E-binding protein 1; 4E-BP1; PHAS-I; Phosphorylated heat- and acid-stable protein regulated by insulin 1; eIF4E-binding protein 1", "protein_names_refseq": "eIF4E-binding protein 1; eukaryotic translation initiation factor 4E-binding protein 1; phosphorylated heat- and acid-stable protein regulated by insulin 1", "tax_id": 9606, "disease": "tuberous sclerosis (Disease Ontology:DOID:13515); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:1978); (R-HSA-166208); (R-HSA-72662)", "pathway_count": 3, "publication_count": 187, "publication_id_list": "10364159;10405182;10471835;10608806;10654941;10779345;10942774;11146653;11278829;11410517;11553333;11691836;11777913;11799119;12054859;12105188;12150926;12588975;12665801;12742462;12747827;12860993;12869584;12912989;14720331;15129427;15314020;15809305;16123140;16249273;16271312;16825247;16873412;17081983;1715244;17287340;17368478;17487921;17510057;17525332;17631896;18212344;18220336;18365020;18577697;18669648;18701453;18701920;18767875;19036825;19331694;19367274;19413330;19487463;19651622;19664995;19690332;20068231;20142804;20170512;20227039;20616057;20711498;20736160;20863555;20880835;21132000;21320304;21406692;21602892;21837706;22039466;22253983;22267338;22421144;22578813;22657251;22684010;22808163;23186163;23301498;23340172;23584478;23814053;24159375;24205284;24247720;24275569;24316235;24358826;24384983;24403073;24466059;24562770;24586775;24605337;24715725;24923301;24931163;24970798;25020061;25486193;25527453;25673820;25702871;25762619;25880415;25961827;25999352;26259639;26434594;26472029;26832959;27048233;27055259;27056897;27065332;27387559;27397612;27402756;28213783;28252104;28272965;28475412;28539821;28903425;28915586;291969;29233971;29236692;29357370;29423932;29472733;29493099;29507660;29557506;29750193;29795412;29845289;30397197;30524438;30602778;30698812;30931929;31046771;31073371;31122207;31138781;31201269;31284427;31373491;31641103;31717924;31867267;32021427;32075852;32488085;32938616;33038921;33130472;33191406;33392160;33471625;33592498;33658483;33742064;33801653;34930349;35697076;36241641;36882522;38378793;38537932;38744825;38944176;6853548;7935836;8083223;8449919;8521827;9092573;9204908;9405468;9465032;9684899;9721431;9806882", "class_list": "", "function": "MTORC1 regulates cell survival under glucose starvation through 4EBP1/2-mediated translational reprogramming of fatty acid metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-483-5p orchestrates the initiation of protein synthesis by facilitating the decrease in phosphorylated Ser209eIF4E and 4E-BP1 levels. Publication Status: Online-Only, [RefSeq, PubMed]; Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation. Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008]., [RefSeq]; Tumor Necrosis Factor Receptor-2 Signals Clear-Cell Renal Carcinoma Proliferation via Phosphorylated 4E Binding Protein-1 and Mitochondrial Gene Translation., [RefSeq, PubMed]; Tumoral EIF4EBP1 regulates the crosstalk between tumor-associated macrophages and tumor cells in MRTK., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 72, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 9, "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": "B2R502;D3DSW8;Q6IBN3", "ec_number_list": [], "go_molecular_function": "GO:0008190 eukaryotic initiation factor 4E binding;GO:0030371 translation repressor activity;GO:0031369 translation initiation factor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045931 positive regulation of mitotic cell cycle;GO:0000082 G1/S transition of mitotic cell cycle;GO:0017148 negative regulation of translation;GO:0031929 TOR signaling;GO:0045947 negative regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 19.2, "record_id": "Q13541-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13542-1", "uniprot_id": [ { "id": "4EBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13542", "type": "external" } ], "mass": 12939.0, "length": 120, "protein_name": "Eukaryotic translation initiation factor 4E-binding protein 2", "gene_name": "EIF4EBP2", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 4E-binding protein 2", "refseq_ac": [ { "id": "NP_004087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004087", "type": "external" } ], "gene_names_uniprotkb": "EIF4EBP2", "gene_names_refseq": "4EBP2; EIF4EBP2; PHASII", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 4E-binding protein 2; 4E-BP2; eIF4E-binding protein 2", "protein_names_refseq": "eIF4E-binding protein 2; eukaryotic translation initiation factor 4E-binding protein 2; phosphorylated, heat and acid stable regulated by insulin protein II", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:1979)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "18491316;18669648;19413330;19664995;19690332;21661078;23301498;24207126;25533957;25548167;25822952;25880248;26154972;26375851;26758079;26992070;28068774;29557506;30429286;30765518;31154438;31530632;31844290;31848261;32157095;32357974;32561718;32983136;33592498;33936100;35580925;37938771;38511550;38744825;39215053;7935836", "class_list": "", "function": "Genetic evidence supporting potential causal roles of EIF4 family in breast cancer: a two-sample randomized Mendelian study. Publication Status: Online-Only, [RefSeq, PubMed]; MTORC1 regulates cell survival under glucose starvation through 4EBP1/2-mediated translational reprogramming of fatty acid metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; Repressor of translation initiation involved in synaptic plasticity, learning and memory formation (PubMed:30765518). Regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form of EIF4EBP2 competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation (PubMed:25533957, PubMed:30765518). EIF4EBP2 is enriched in brain and acts as a regulator of synapse activity and neuronal stem cell renewal via its ability to repress translation initiation (By similarity). Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The human eIF4E:4E-BP2 complex structure for studying hyperphosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the eukaryotic translation initiation factor 4E binding protein family. The gene products of this family bind eIF4E and inhibit translation initiation. However, insulin and other growth factors can release this inhibition via a phosphorylation-dependent disruption of their binding to eIF4E. Regulation of protein production through these gene products have been implicated in cell proliferation, cell differentiation and viral infection. [provided by RefSeq, Oct 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, "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": 10, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 1, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0008190 eukaryotic initiation factor 4E binding;GO:0030371 translation repressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0098794 postsynapse;GO:0071598 neuronal ribonucleoprotein granule", "go_biological_process": "GO:0007613 memory;GO:0048167 regulation of synaptic plasticity;GO:0035176 social behavior;GO:0006412 translation;GO:0031929 TOR signaling", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q13542-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15172-1", "uniprot_id": [ { "id": "2A5A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15172", "type": "external" } ], "mass": 56194.0, "length": 486, "protein_name": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform", "gene_name": "PPP2R5A", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform isoform 2", "refseq_ac": [ { "id": "NP_001186685", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186685", "type": "external" } ], "gene_names_uniprotkb": "PPP2R5A", "gene_names_refseq": "B56A; B56alpha; PPP2R5A; PR61A", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform; PP2A B subunit isoform B'-alpha; PP2A B subunit isoform B56-alpha; PP2A B subunit isoform PR61-alpha; PP2A B subunit isoform R5-alpha; PR61alpha", "protein_names_refseq": "PR61alpha; protein phosphatase 2 regulatory subunit B', alpha; serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform isoform 2", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5525); (R-HSA-141430); (R-HSA-141444); (R-HSA-195253); (R-HSA-196299); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-389356); (R-HSA-389513); (R-HSA-432142); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5663220); (R-HSA-5673000); (R-HSA-5675221); (R-HSA-6811558); (R-HSA-68877); (R-HSA-9648025); (R-HSA-9833482)", "pathway_count": 26, "publication_count": 468, "publication_id_list": 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"class_list": "", "function": "A complex of BRCA2 and PP2A-B56 is required for DNA repair by homologous recombination. Publication Status: Online-Only, [RefSeq, PubMed]; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment., [UniProtKB]; The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]., [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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "B2R6D2;B7Z7L2;D3DT99;Q2NL72;Q5VVB2;Q8TBI9", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0019900 kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:1903077 negative regulation of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 47.1, "record_id": "Q15172-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L211-1", "uniprot_id": [ { "id": "ABHDD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L211", "type": "external" } ], "mass": 38548.0, "length": 337, "protein_name": "Protein ABHD13", "gene_name": "ABHD13", "organism": "Human", "refseq_name": "protein ABHD13", "refseq_ac": [ { "id": "NP_116248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116248", "type": "external" } ], "gene_names_uniprotkb": "ABHD13; C13orf6", "gene_names_refseq": "ABHD13; BEM46L1; C13orf6; bA153I24.2", "protein_names_uniprotkb": "Protein ABHD13; 3.-.-.-; Abhydrolase domain-containing protein 13; Alpha/beta hydrolase domain-containing protein 13", "protein_names_refseq": "abhydrolase domain-containing protein 13; alpha/beta hydrolase domain-containing protein 13; protein ABHD13", "tax_id": 9606, "disease": "", "pathway": " (hsa:84945)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "16303743;19773279;25645385;25892735;26375851;26992070;28467828;28832583;29242379;29557506;29769354;30429286;30833945;31154438;31844290;32350084;32387766;32488085;32938616;33141586;33298915;33912179;33968037;34087483;34357683;34405274;34509645;35580925;37938771", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KWE7;Q8NBW1;Q96JX9", "ec_number_list": [], "go_molecular_function": "GO:0008474 palmitoyl-(protein) hydrolase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0032839 dendrite cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q7L211-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZY2-1", "uniprot_id": [ { "id": "ABCA7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZY2", "type": "external" } ], "mass": 234350.0, "length": 2146, "protein_name": "Phospholipid-transporting ATPase ABCA7", "gene_name": "ABCA7", "organism": "Human", "refseq_name": "phospholipid-transporting ATPase ABCA7", "refseq_ac": [ { "id": "NP_061985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061985", "type": "external" } ], "gene_names_uniprotkb": "ABCA7", "gene_names_refseq": "ABCA-SSN; ABCA7; ABCX; AD9", "protein_names_uniprotkb": "Phospholipid-transporting ATPase ABCA7; 7.6.2.1; ABCA-SSN; ATP-binding cassette sub-family A member 7; Autoantigen SS-N; Macrophage ABC transporter", "protein_names_refseq": "ATP-binding cassette sub-family A member 7; ATP-binding cassette, sub-family A (ABC1), member 7; autoantigen SS-N; macrophage ABC transporter; phospholipid-transporting ATPase ABCA7", "tax_id": 9606, "disease": "Alzheimer's disease 9 (Disease Ontology:DOID:0111364)", "pathway": " (hsa:10347); (R-HSA-1369062)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "10.1101/2023.09.13.557529;10551832;10704444;10777694;10873640;11095984;11099417;11178988;11237011;11248239;11309290;11355874;11435699;11478798;11606068;11718719;12111378;12150964;12183068;12504089;12509503;12821155;12917409;12925201;14570867;14592415;15007061;15044640;15209530;15994327;16007253;23481700;24097981;24190977;24715725;24831815;25418920;25576301;25645385;25807283;25880248;25892735;26141617;26154972;26260791;26992070;27472885;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28649982;28832583;28904123;29242379;29351928;29393594;29437277;29557506;29577078;29632711;29741879;29769354;30192525;30315122;30429286;30779550;30833945;31154438;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33968037;33981976;34171305;34357683;34509645;34561969;34932366;35008409;35051231;35318648;35494241;35580925;36010968;36241641;36284347;37681876;37946268;38135757;39216475;39344232;8411712;8507690;8706931;9345306", "class_list": "", "function": "ABCA7 deficiency causes neuronal dysregulation by altering mitochondrial lipid metabolism., [RefSeq, PubMed]; ABCA7-dependent induction of neuropeptide Y is required for synaptic resilience in Alzheimer's disease through BDNF/NGFR signaling., [RefSeq, PubMed]; Alzheimer's Disease and Effects of ABCA7 Polymorphisms: A Review. Review article, [RefSeq, PubMed]; CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylserine over phosphatidylcholine (PubMed:24097981). Plays a role in lipid homeostasis and macrophage-mediated phagocytosis (PubMed:12917409, PubMed:12925201, PubMed:14570867, PubMed:14592415). Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells (PubMed:12917409, PubMed:14570867, PubMed:14592415). May also mediate cholesterol efflux (PubMed:14570867). May regulate cellular ceramide homeostasis during keratinocyte differentiation (PubMed:12925201). Involved in lipid raft organization and CD1D localization on thymocytes and antigen-presenting cells, which plays an important role in natural killer T-cell development and activation (By similarity). Plays a role in phagocytosis of apoptotic cells by macrophages (By similarity). Macrophage phagocytosis is stimulated by APOA1 or APOA2, probably by stabilization of ABCA7 (By similarity). Also involved in phagocytic clearance of amyloid-beta by microglia cells and macrophages (By similarity). Further limits amyloid-beta production by playing a role in the regulation of amyloid-beta A4 precursor protein (APP) endocytosis and/or processing (PubMed:26260791). Amyloid-beta is the main component of amyloid plaques found in the brains of Alzheimer patients (PubMed:26260791)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Down-Regulation of ABCA7 in Human Microglia, Astrocyte and THP-1 Cell Lines by Cholesterol Depletion, IL-1beta and TNFalpha, or PMA. Publication Status: Online-Only, [RefSeq, PubMed]; The 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 ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]., [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": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q96S58;Q9BZC4;Q9NR73;Q9UKP8", "ec_number_list": [ { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "7.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.2", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0016887 ATP hydrolysis activity;GO:0005548 phospholipid transporter activity;GO:0034188 apolipoprotein A-I receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0001891 phagocytic cup;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0045806 negative regulation of endocytosis;GO:0007613 memory;GO:0008542 visual learning;GO:0010875 positive regulation of cholesterol efflux;GO:0033700 phospholipid efflux", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q8IZY2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N0Z2-1", "uniprot_id": [ { "id": "ABRA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N0Z2", "type": "external" } ], "mass": 43117.0, "length": 381, "protein_name": "Actin-binding Rho-activating protein", "gene_name": "ABRA", "organism": "Human", "refseq_name": "actin-binding Rho-activating protein", "refseq_ac": [ { "id": "NP_631905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_631905", "type": "external" } ], "gene_names_uniprotkb": "ABRA", "gene_names_refseq": "ABRA; STARS", "protein_names_uniprotkb": "Actin-binding Rho-activating protein; STARS; Striated muscle activator of Rho-dependent signaling", "protein_names_refseq": "actin-binding Rho-activating protein; striated muscle activator of Rho-dependent signaling", "tax_id": 9606, "disease": "", "pathway": " (hsa:137735)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11983702;15798203;17415416;19255118;27132186;27739650;29504288;31844290;33884582", "class_list": "", "function": "Acts as an activator of serum response factor (SRF)-dependent transcription possibly by inducing nuclear translocation of MKL1 or MKL2 and through a mechanism requiring Rho-actin signaling., [UniProtKB, UniProtKB]; Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy., [RefSeq, PubMed]; Modulates the responsiveness of the heart to stress signaling by functioning as a cytoskeletal intermediary between human and transgenic myocyte enhancer factor-2 and serum response factor., [RefSeq, PubMed]; STARS activates serum response factor by inducing the nuclear translocation of myocardin-related transcription factors ., [RefSeq, PubMed]; STARS expression is acutely upregulated following exercise, but there is no cumulative effect to long-term training., [RefSeq, PubMed]; STARS signalling pathway is responsive to changes in skeletal muscle loading and appears to play a role in both human skeletal muscle hypertrophy and atrophy, [RefSeq, PubMed]; These results suggest a connection between Ca(2+)-signaling via excitation-contraction coupling and the regulation of STARS-mediated gene expression in muscles., [RefSeq, PubMed]; We established that miR-628-5p, a miRNA regulated by age and exercise, binds to the STARS 3'UTR to directly downregulate its transcription, [RefSeq, 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, "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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0030017 sarcomere", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0015031 protein transport;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0030036 actin cytoskeleton organization;GO:0035025 positive regulation of Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8N0Z2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N139-1", "uniprot_id": [ { "id": "ABCA6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N139", "type": "external" } ], "mass": 184286.0, "length": 1617, "protein_name": "ATP-binding cassette sub-family A member 6", "gene_name": "ABCA6", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family A member 6", "refseq_ac": [ { "id": "NP_525023", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_525023", "type": "external" } ], "gene_names_uniprotkb": "ABCA6", "gene_names_refseq": "ABCA6; EST155051", "protein_names_uniprotkb": "ATP-binding cassette sub-family A member 6; 7.6.2.-", "protein_names_refseq": "ABC transporter ABCA6; ATP-binding cassette A6; ATP-binding cassette sub-family A member 6; ATP-binding cassette, sub-family A (ABC1), member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:23460); (R-HSA-1369062); (R-HSA-9615017)", "pathway_count": 3, "publication_count": 65, "publication_id_list": "10102273;10217147;10358014;10480625;10551832;10639163;10704444;10777694;10873640;10913147;11095984;11099417;11178988;11248239;11309290;11478798;11606068;11718719;11779849;12150964;12183068;12239572;12504089;12509503;12821155;12917409;14570867;14592415;15007061;15044640;15209530;15994327;16007253;16783365;16840535;18676680;19159218;21536589;24028821;24040102;24715725;24831815;25294155;25505266;25548167;25751400;26992070;27547294;27846572;29437277;31844290;32502341;32877505;32938616;33091337;33717175;33912179;34274505;35051231;36149602;37074911;8411712;8507690;8706931;9345306", "class_list": "", "function": "A rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), found in a Dutch population, is predicted to be deleterious with respect to blood cholesterol levels. Publication Status: Online-Only, [RefSeq, PubMed]; ABCA6 affects the malignancy of Ewing sarcoma cells via cholesterol-guided inhibition of the IGF1R/AKT/MDM2 axis. Erratum:[Cell Oncol (Dordr). 2022 Dec;45(6):1253. doi: 10.1007/s13402-022-00735-z. PMID: 36352194], [RefSeq, PubMed]; Hypercholesterolemia risk associated Abca6 does not regulate lipoprotein metabolism in mice or hamster., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probable transporter which may play a role in macrophage lipid transport and homeostasis., [UniProtKB, PubMed]; Results suggest a possible role for multidrug resistance genes ABCA10 and ABCA6 in follicular lymphoma survival and add to the evidence that genetic variation in CD46 and IL8 may have prognostic implications follicular lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories., [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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 1, "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": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "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": 47, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q6NSH9;Q8N856;Q8WWZ6", "ec_number_list": [ { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" } ], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0016887 ATP hydrolysis activity;GO:0140359 ABC-type transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005654 nucleoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0006869 lipid transport", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q8N139-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WW27-1", "uniprot_id": [ { "id": "ABEC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WW27", "type": "external" } ], "mass": 41581.0, "length": 367, "protein_name": "Putative deaminase APOBEC-4", "gene_name": "APOBEC4", "organism": "Human", "refseq_name": "putative deaminase APOBEC-4", "refseq_ac": [ { "id": "NP_982279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_982279", "type": "external" } ], "gene_names_uniprotkb": "APOBEC4; C1orf169", "gene_names_refseq": "APOBEC4; C1orf169", "protein_names_uniprotkb": "Putative deaminase APOBEC-4; 3.5.4.-; Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 4", "protein_names_refseq": "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative); putative C->U-editing enzyme APOBEC-4; putative deaminase APOBEC-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:403314); (R-HSA-72200); (R-HSA-75094)", "pathway_count": 3, "publication_count": 8, "publication_id_list": "11718896;15659357;16082223;19911124;27249646;35051231;35494241;8208612", "class_list": "", "function": "APOBEC4 is expressed primarily in testis which suggests the possibility that it is an editing enzyme for mRNAs involved in spermatogenesis, [RefSeq, PubMed]; APOBEC4 was capable of similarly enhancing transcription from a broad spectrum of promoters, regardless of whether they were viral or mammalian Publication Status: Online-Only, [RefSeq, PubMed]; Putative deaminase whose physiological substrate is not yet known., [UniProtKB]; Studies indicate the APOBEC family consists of 11 members: APOBEC-1 (Apo1), APOBEC-2 (Apo2), activation induced cytidine deaminase (AID), APOBEC- 3A, -3B, -3C, -3DE, -3F, -3H (Apo3A-H) and APOBEC- 4 (Apo4). Review article, [RefSeq, PubMed]; This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. [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, "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": 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": "Q8N7F6", "ec_number_list": [ { "id": "3.5.4.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.38", "type": "external" }, { "id": "3.5.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.-", "type": "external" }, { "id": "3.5.4.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.36", "type": "external" } ], "go_molecular_function": "GO:0016787 hydrolase activity;GO:0046872 metal ion binding", "go_cellular_component": "", "go_biological_process": "GO:0006397 mRNA processing", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8WW27-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GS6-1", "uniprot_id": [ { "id": "AB17A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GS6", "type": "external" } ], "mass": 33990.0, "length": 310, "protein_name": "Alpha/beta hydrolase domain-containing protein 17A", "gene_name": "ABHD17A", "organism": "Human", "refseq_name": "alpha/beta hydrolase domain-containing protein 17A isoform 2", "refseq_ac": [ { "id": "NP_001123583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123583", "type": "external" } ], "gene_names_uniprotkb": "ABHD17A; C19orf27; FAM108A1", "gene_names_refseq": "ABHD17A; C19orf27; FAM108A1", "protein_names_uniprotkb": "Alpha/beta hydrolase domain-containing protein 17A; 3.1.2.22; Abhydrolase domain-containing protein 17A", "protein_names_refseq": "abhydrolase domain-containing protein 17A; abhydrolase domain-containing protein FAM108A1; alpha/beta hydrolase domain-containing protein 17A isoform 2; alpha/beta hydrolase domain-containing protein 17A; family with sequence similarity 108, member A1; protein ABHD17A", "tax_id": 9606, "disease": "", "pathway": " (hsa:81926); (R-HSA-9648002)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "10085068;10085069;10667208;11038283;11120601;11196150;11237011;11585916;11739732;12433685;12727204;12750467;14561760;14660603;14966563;15451670;15659645;16000296;16043511;16303743;16483930;18182391;18502828;19188362;19690332;20416930;20418879;20622895;20802526;21170358;21661760;21779505;21905185;21905186;22002721;22144181;22179043;22195972;22589270;22721555;23514631;23698361;23943869;24029068;24033119;24715725;24725411;24971579;25502872;25550383;25576301;25713064;25759176;25781681;25880248;26085527;26154972;26590425;2661017;26701913;26706195;26771141;2682646;26992070;27094677;27396271;27410739;27697864;27791178;28167504;28228285;28630138;28666118;28778966;28904123;29242379;29311131;29424242;29557506;29632711;30315122;30484775;30524438;30833945;31092671;31154438;31844290;32157095;32161166;32350084;32357974;32877642;32913120;32983136;33298915;33691108;33936100;33968037;34087483;34171305;34932366;35051231;35154160;35251023;35318648;35580925;36241641;9436858;9810004;9822558;9851253", "class_list": "", "function": "Hydrolyzes fatty acids from S-acylated cysteine residues in proteins (PubMed:26701913). Has depalmitoylating activity towards NRAS (PubMed:26701913). Has depalmitoylating activity towards DLG4/PSD95 (PubMed:26701913). May have depalmitoylating activity towards MAP6 (By similarity)., [UniProtKB, PubMed, UniProtKB]; Site-specific deacylation by ABHD17a controls BK channel splice variant activity., [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": 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": 1, "reported_mutagensis": 2, "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": "A8K0G8;D6W5Z9;Q6PJU2;Q8WUH9;Q9BWL0;Q9H7Q9", "ec_number_list": [ { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.1.1.93", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.93", "type": "external" } ], "go_molecular_function": "GO:0008474 palmitoyl-(protein) hydrolase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043197 dendritic spine;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:1905668 positive regulation of protein localization to endosome;GO:0072657 protein localization to membrane;GO:0002084 protein depalmitoylation;GO:1900226 negative regulation of NLRP3 inflammasome complex assembly;GO:0099175 regulation of postsynapse organization", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q96GS6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GX2-1", "uniprot_id": [ { "id": "A7L3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GX2", "type": "external" } ], "mass": 10771.0, "length": 97, "protein_name": "Ataxin-7-like protein 3B", "gene_name": "ATXN7L3B", "organism": "Human", "refseq_name": "ataxin-7-like protein 3B", "refseq_ac": [ { "id": "NP_001129734", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129734", "type": "external" } ], "gene_names_uniprotkb": "ATXN7L3B", "gene_names_refseq": "ATXN7L3B; lnc-SCA7", "protein_names_uniprotkb": "Ataxin-7-like protein 3B", "protein_names_refseq": "ataxin-7-like protein 3B; putative ataxin-7-like protein 3B", "tax_id": 9606, "disease": "", "pathway": " (hsa:552889)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "16680195;23301498;23475819;23481700;24714562;26154972;26375851;26728094;27601583;27862975;28832583;28834231;29508533;29557506;29632711;29786170;30833945;31154438;31797724;31844290;31848261;32202298;32350084;32502341;32897882;32938616;32983136;33717175;34171305;34357683;34375763;35051231;35132862;35580925", "class_list": "", "function": "ATXN7L3B promotes hepatocellular carcinoma stemness and is downregulated by metformin., [RefSeq, PubMed]; By binding to ENY2, interferes with the nuclear functions of the deubiquitinase (DUB) module of the SAGA complex which consists of ENY2, ATXN7, ATXN7L3 and the histone deubiquitinating component USP22. Affects USP22 DUB activity toward histones indirectly by changing the subcellular distribution of ENY2 and altering ENY2 availability for ATXN7L3 interaction. Regulates H2B monoubiquitination (H2Bub1) levels through cytoplasmic sequestration of ENY2 resulting in loss of nuclear ENY2-ATXN7L3 association which destabilizes ATXN7L3. Affects protein expression levels of ENY2 and ATXN7L3., [UniProtKB, PubMed]; Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content., [RefSeq, PubMed]; Potential regulatory SNPs in the ATXN7L3B and KRT15 genes are associated with gender-specific colorectal cancer risk., [RefSeq, PubMed]; Study reports that ATXN7L3B interacts with ENY2 but not other SAGA components. Even though ATXN7L3B localizes in the cytoplasm, ATXN7L3B overexpression increases H2Bub1 levels, while overexpression of ATXN7L3 decreases H2Bub1 levels. Publication Status: Online-Only, [RefSeq, PubMed]; This family's complex phenotype is associated with a new chromosomal deletion, which suggests potential roles for the two genes, KCNC2 and ATXN7L3B, in human neurological disease., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q96GX2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96P26-1", "uniprot_id": [ { "id": "5NT1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96P26", "type": "external" } ], "mass": 68804.0, "length": 610, "protein_name": "Cytosolic 5'-nucleotidase 1B", "gene_name": "NT5C1B", "organism": "Human", "refseq_name": "cytosolic 5'-nucleotidase 1B isoform 1", "refseq_ac": [ { "id": "NP_001002006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002006", "type": "external" } ], "gene_names_uniprotkb": "NT5C1B; AIRP; FKSG85", "gene_names_refseq": "AIRP; CN-IB; CN1B; NT5C1B", "protein_names_uniprotkb": "Cytosolic 5'-nucleotidase 1B; 3.1.3.5; Autoimmune infertility-related protein; Cytosolic 5'-nucleotidase IB; cN-IB; cN1B", "protein_names_refseq": "autoimmune infertility-related protein; cytosolic 5'-nucleotidase 1B isoform 1; cytosolic 5'-nucleotidase 1B; testicular tissue protein Li 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100526794); (hsa:93034); (R-HSA-74259)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "10075721;10364222;10681516;10766785;11083867;11133996;11237011;11278832;11690631;12750059;12947102;1637327;17081983;17234634;17301077;17405878;19470646;20081199;20392501;2104852;2129526;2157703;23203137;2344353;24260472;25108359;2848805;28904123;3029074;3036115;30410026;31844290;32357974;35051231;6771276;8670112", "class_list": "", "function": "Catalyzes the hydrolysis of nucleotide monophosphates, releasing inorganic phosphate and the corresponding nucleoside, AMP is the major substrate., [UniProtKB, UniProtKB]; Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, 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, "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": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5MCR0;B7ZVX7;Q53RX2;Q8N9W3;Q8NA26;Q96DU5;Q96KE6;Q96M25;Q96SA3", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "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": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.91", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.91", "type": "external" }, { "id": "3.1.3.89", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.89", "type": "external" }, { "id": "3.1.3.99", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.99", "type": "external" }, { "id": "3.1.3.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.35", "type": "external" }, { "id": "2.7.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.77", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0000166 nucleotide binding;GO:0008253 5'-nucleotidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0006195 purine nucleotide catabolic process;GO:0046085 adenosine metabolic process;GO:0009117 nucleotide metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q96P26-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXI3-1", "uniprot_id": [ { "id": "5NT1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXI3", "type": "external" } ], "mass": 41021.0, "length": 368, "protein_name": "Cytosolic 5'-nucleotidase 1A", "gene_name": "NT5C1A", "organism": "Human", "refseq_name": "cytosolic 5'-nucleotidase 1A", "refseq_ac": [ { "id": "NP_115915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115915", "type": "external" } ], "gene_names_uniprotkb": "NT5C1A", "gene_names_refseq": "CN-IA; CN-I; CN1A; CN1; CNI; NT5C1A", "protein_names_uniprotkb": "Cytosolic 5'-nucleotidase 1A; 3.1.3.5; 3.1.3.89; 3.1.3.99; 5'-deoxynucleotidase; Cytosolic 5'-nucleotidase IA; cN-IA; cN-I; cN1A", "protein_names_refseq": "5'-deoxynucleotidase; AMP-specific 5'-NT; cytosolic 5' nucleotidase, type 1A; cytosolic 5'-nucleotidase 1A; cytosolic 5'-nucleotidase IA", "tax_id": 9606, "disease": "", "pathway": " (hsa:84618); (R-HSA-73621); (R-HSA-74259)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "10075721;10364222;10681516;10766785;10899995;10989446;11083867;11133996;11278832;11690631;12124385;12352955;12750059;12849978;12947102;14725767;15385443;15888028;1590793;1637327;16377327;17234634;17301077;17405878;19291308;19470646;20018850;20081199;2104852;2129526;2157703;23203137;2344353;24260472;24397554;25108359;25880248;2826576;2848805;28832583;28904123;29242379;29557506;3029074;30315122;3036115;30709769;31024569;31844290;31848261;32157095;32357974;32502341;33912179;34814800;35051231;6771276;7284378;7488099;7599155;8083224;8670112;8967393;9718352", "class_list": "", "function": "Anti-NT5c1A Autoantibodies as Biomarkers in Inclusion Body Myositis. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the hydrolysis of ribonucleotide and deoxyribonucleotide monophosphates, releasing inorganic phosphate and the corresponding nucleoside (PubMed:11133996, PubMed:34814800, PubMed:7599155, PubMed:8967393). AMP is the major substrate but can also hydrolyze dCMP and IMP (PubMed:11133996, PubMed:34814800, PubMed:7599155, PubMed:8967393)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]., [RefSeq]; NT5C1A is robustly expressed in tumor cells of resected PDAC patients. Moreover, NT5C1A mediates gemcitabine resistance by decreasing the amount of intracellular dFdCTP, leading to reduced tumor cell apoptosis and larger pancreatic tumors in mice., [RefSeq, PubMed]; Overexpression of 5'-nucleotidase inhibits Natural Killer cell cytotoxicity to ameliorate rejection after xenotransplantation, [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": 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": 9, "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": "Q3SYB9;Q5TG98;Q9BWT8", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "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": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.91", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.91", "type": "external" }, { "id": "3.1.3.89", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.89", "type": "external" }, { "id": "3.1.3.99", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.99", "type": "external" }, { "id": "3.1.3.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.35", "type": "external" }, { "id": "2.7.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.77", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0000166 nucleotide binding;GO:0008253 5'-nucleotidase activity;GO:0002953 5'-deoxynucleotidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046085 adenosine metabolic process;GO:0006196 AMP catabolic process;GO:0009116 nucleoside metabolic process;GO:0000255 allantoin metabolic process;GO:0046059 dAMP catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9BXI3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3Z7-1", "uniprot_id": [ { "id": "ABHGB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3Z7", "type": "external" } ], "mass": 52555.0, "length": 469, "protein_name": "ABHD16B", "gene_name": "ABHD16B", "organism": "Human", "refseq_name": "ABHD16B", "refseq_ac": [ { "id": "NP_542189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542189", "type": "external" } ], "gene_names_uniprotkb": "ABHD16B; C20orf135", "gene_names_refseq": "ABHD16B; C20orf135; dJ591C20.1", "protein_names_uniprotkb": "ABHD16B; 3.1.1.111; Abhydrolase domain-containing protein 16B; Alpha/beta hydrolase domain-containing protein 16B", "protein_names_refseq": "ABHD16B; abhydrolase domain-containing protein 16B; alpha/beta hydrolase domain-containing protein 16B; protein ABHD16B", "tax_id": 9606, "disease": "", "pathway": " (hsa:140701)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "26811146;28832583;34105348;35051231;36841071;37944658;39894887", "class_list": "", "function": "Hydrolyzes the sn-1 position of glycerophospholipids with high specificity towards phosphatidylserine (PS), PS-PLA1 enzyme (PubMed:36841071). Also hydrolyzes the acyl chain of glycerolipids with a preference for the monoacylglycerol (MAG) 1-acylglycerol, MAG lipase (PubMed:36841071). Plays a regulatory role in cellular lipid homeostasis by modulating genes involved in neutral lipid degradation and in phospholipid synthesis and composition (PubMed:37944658)., [UniProtKB, PubMed, PubMed]; Molecular insights on PS-PLA1 lipase activity of human ABHD16B., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.26", "type": "external" }, { "id": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "type": "external" }, { "id": "3.1.1.111", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.111", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.118", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.118", "type": "external" } ], "go_molecular_function": "GO:0004620 phospholipase activity;GO:0047372 monoacylglycerol lipase activity", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0052651 monoacylglycerol catabolic process;GO:0006660 phosphatidylserine catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9H3Z7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6R3-1", "uniprot_id": [ { "id": "ACSS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6R3", "type": "external" } ], "mass": 74778.0, "length": 686, "protein_name": "Acyl-CoA synthetase short-chain family member 3, mitochondrial", "gene_name": "ACSS3", "organism": "Human", "refseq_name": "acyl-CoA synthetase short-chain family member 3, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001317171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317171", "type": "external" } ], "gene_names_uniprotkb": "ACSS3", "gene_names_refseq": "ACSS3", "protein_names_uniprotkb": "Acyl-CoA synthetase short-chain family member 3, mitochondrial; 6.2.1.17; 6.2.1.1; Acetate--CoA ligase 3; Acyl-CoA synthetase short-chain family member 3; Propionate--CoA ligase", "protein_names_refseq": "AMP-binding enzyme, 33217; acetate--CoA ligase 3; acyl-CoA synthetase short-chain family member 3, mitochondrial isoform 2 precursor; acyl-CoA synthetase short-chain family member 3, mitochondrial; propionate--CoA ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:79611); (R-HSA-77111); (R-HSA-9841922)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "10425206;10558993;10835357;10882139;11027271;11237011;11479731;12623130;12829629;1310260;16380219;16380372;1639787;17761950;17762044;19043829;19172745;20102333;22847177;22865860;23396451;25418920;25645385;28003429;29557506;30379171;31154438;31848261;32157095;32488085;33298915;33329381;33391508;33968037;34087483;35051231;36010968;36510703;3709573;37979225;7061490;8440722;8521497;8521498;9065481;9171241;9744270", "class_list": "", "function": "ACSS3 regulates the metabolic homeostasis of epithelial cells and alleviates pulmonary fibrosis., [RefSeq, PubMed]; ACSS3 represses prostate cancer progression through downregulating lipid droplet-associated protein PLIN3. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:28003429). Propionate is the preferred substrate (PubMed:28003429). Can utilize acetate and butyrate with a much lower affinity (By similarity)., [UniProtKB, PubMed, UniProtKB]; Genome-wide assessment reveals a significant association between ACSS3 and physical activity., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "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": "Q8NC66", "ec_number_list": [ { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "6.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.2", "type": "external" }, { "id": "6.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.25", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "6.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.1", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0003987 acetate-CoA ligase activity;GO:0050218 propionate-CoA ligase activity;GO:0031956 medium-chain fatty acid-CoA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0046951 ketone body biosynthetic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9H6R3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HC16-1", "uniprot_id": [ { "id": "ABC3G_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HC16", "type": "external" } ], "mass": 46408.0, "length": 384, "protein_name": "DNA dC->dU-editing enzyme APOBEC-3G", "gene_name": "APOBEC3G", "organism": "Human", "refseq_name": "DNA dC->dU-editing enzyme APOBEC-3G isoform 1", "refseq_ac": [ { "id": "NP_068594", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068594", "type": "external" } ], "gene_names_uniprotkb": "APOBEC3G; MDS019", "gene_names_refseq": "A3G; APOBEC3G; ARCD; ARP-9; ARP9; CEM-15; CEM15; MDS019; bK150C2.7; dJ494G10.1", "protein_names_uniprotkb": "DNA dC->dU-editing enzyme APOBEC-3G; 3.5.4.38; A3G; APOBEC-related cytidine deaminase; APOBEC-related protein 9; APOBEC-related protein; ARCD; ARP-9; CEM-15; CEM15; Deoxycytidine deaminase", "protein_names_refseq": "APOBEC-related cytidine deaminase; APOBEC-related protein 9; DNA dC->dU editing enzyme; DNA dC->dU-editing enzyme APOBEC-3G isoform 1; DNA dC->dU-editing enzyme APOBEC-3G; apolipoprotein B editing enzyme catalytic polypeptide-like 3G; apolipoprotein B mRNA editing enzyme cytidine deaminase; apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G; apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3G; deoxycytidine deaminase; phorbolin-like protein MDS019", "tax_id": 9606, "disease": "", "pathway": " (hsa:60489)", "pathway_count": 1, "publication_count": 128, "publication_id_list": "11863358;12167863;12683974;12808465;12808466;12809610;12859895;12970355;14527406;14528300;14528301;14557052;14557625;14565218;15031497;15054139;15156567;15452227;16115862;16378963;16418394;16527742;16622407;16699599;17020885;17121840;17440614;18288108;18304004;18448976;18639915;18667511;18836454;18842592;18849968;19008196;19153609;19458006;19887642;20015971;20152150;20219927;20308164;20335265;20510315;21123384;21239176;21489586;21659520;21835787;22001110;22181350;22190037;22301159;22546055;22787460;22791714;22807680;22912627;22915799;23001005;23097438;23152537;23300442;23318957;23481700;24366607;24714562;24715725;25418920;25542899;25880248;25892735;26154972;26375851;26929215;27846572;27920218;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30524438;31217245;31253590;31397674;31792451;31844290;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33717175;33912179;33968037;34185709;34357683;34405274;34509645;34561969;34932366;35051231;35561310;35580925;36284347;36754086;37419875;37938771;38865405;40914422", "class_list": "", "function": "APOBEC3G inhibits HIV-1 infection through interference with reverse transcription., [RefSeq, PubMed]; Analysis of the enzymatic reaction of wild-type APOBEC3G, [RefSeq, PubMed]; Crystal structure of the catalytically active C-terminal domain of APOBEC3G was determined to 2.25 A., [RefSeq, PubMed]; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms (PubMed:12808465, PubMed:16527742, PubMed:17121840, PubMed:18288108, PubMed:18849968, PubMed:19153609, PubMed:21123384, PubMed:22791714, PubMed:25542899). Exhibits potent antiviral activity against Vif-deficient HIV-1 (PubMed:12167863, PubMed:12859895, PubMed:14557625, PubMed:20219927, PubMed:21835787, PubMed:22807680, PubMed:22915799, PubMed:23097438, PubMed:23152537, PubMed:31397674). After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA (PubMed:12808465, PubMed:12808466, PubMed:12809610, PubMed:12970355, PubMed:14528300, PubMed:22807680). The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells (PubMed:12808465, PubMed:12808466, PubMed:12809610, PubMed:12970355, PubMed:14528300). Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA (PubMed:12808465, PubMed:12809610, PubMed:12970355, PubMed:14528300). Exhibits antiviral activity also against simian immunodeficiency viruses (SIVs), hepatitis B virus (HBV), equine infectious anemia virus (EIAV), xenotropic MuLV-related virus (XMRV) and simian foamy virus (SFV) (PubMed:15031497, PubMed:16378963, PubMed:18448976, PubMed:19458006, PubMed:20335265). May inhibit the mobility of LTR and non-LTR retrotransposons (PubMed:16527742)., [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, PubMed]; G --> A mutational gradient generated in viral genomic DNA in vivo could result from an intrinsic processive directional attack by APOBEC3G on single-stranded cDNA, [RefSeq, PubMed]; Here, the authors demonstrate that the ability to bind to Gag and package into HIV-1 virions is entirely contained within the amino-terminal half of A3G., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Prevalence of HBsAg among Moroccan HIV-1 infected patients and APOBEC3G variant frequencies in HIV-1/HBV co-infection. Publication Status: Online-Only, [RefSeq, PubMed]; Structure model identifies a cluster of residues important for packaging of APOBEC3G into virions, and may serve to guide functional analysis of APOBEC3G Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene catalyzes site-specific deamination of both RNA and single-stranded DNA. The encoded protein has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. [provided by RefSeq, Mar 2017]., [RefSeq]; Two regions of APOBEC3G combine to mediate an intermolecular interaction that controls subcellular localization, [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": 4, "reported_mutagensis": 51, "reported_glycation": 0, "reported_snv": 5, "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": "B2RDR9;Q45F02;Q5TF77;Q7Z2N1;Q7Z2N4;Q9H9H8", "ec_number_list": [ { "id": "3.5.4.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.38", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0004126 cytidine deaminase activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0008829 dCTP deaminase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body;GO:0030895 apolipoprotein B mRNA editing enzyme complex", "go_biological_process": "GO:0016554 cytidine to uridine editing;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0070383 DNA cytosine deamination;GO:0045071 negative regulation of viral genome replication", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q9HC16-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRA8-1", "uniprot_id": [ { "id": "4ET_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRA8", "type": "external" } ], "mass": 108201.0, "length": 985, "protein_name": "Eukaryotic translation initiation factor 4E transporter", "gene_name": "EIF4ENIF1", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 4E transporter isoform a", "refseq_ac": [ { "id": "NP_001157973", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157973", "type": "external" } ], "gene_names_uniprotkb": "EIF4ENIF1", "gene_names_refseq": "4E-T; Clast4; EIF4ENIF1", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 4E transporter; 4E-T; Eukaryotic translation initiation factor 4E nuclear import factor 1; eIF4E transporter", "protein_names_refseq": "2610509L04Rik; 4E-transporter; eIF4E transporter; eukaryotic translation initiation factor 4E transporter isoform a; eukaryotic translation initiation factor 4E transporter", "tax_id": 9606, "disease": "", "pathway": " (hsa:56478)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "10856257;11237011;15840819;16157702;16699599;17322306;18088087;18212344;18477386;18669648;18691976;18767875;19413330;19608861;19651622;19664994;19664995;19690332;19691289;20068231;21406692;22028470;22090346;22966201;23186163;23991149;24275569;24335285;25418920;25576301;25923732;26027925;26489469;26992070;27342281;27846572;27862975;27869121;27920218;28216671;28228285;28487484;28832583;28834231;28904123;29242379;29510985;29632711;30315122;30429286;31422817;31439631;31492838;31844290;32157095;32354837;32488085;32502341;32897882;32938616;32983136;33298915;33592498;34171305;34509645;34846842;34932366;35051231;35513511;36030004;36241641;37541260;37798395;38253038;38604507;38665916;39302247;39534244", "class_list": "", "function": "An intramolecular disulphide bond in human 4E-T affects its binding to eIF4E1a protein., [RefSeq, PubMed]; EIF4E-binding protein that regulates translation and stability of mRNAs in processing bodies (P-bodies) (PubMed:16157702, PubMed:24335285, PubMed:27342281, PubMed:32354837). Plays a key role in P-bodies to coordinate the storage of translationally inactive mRNAs in the cytoplasm and prevent their degradation (PubMed:24335285, PubMed:32354837). Acts as a binding platform for multiple RNA-binding proteins: promotes deadenylation of mRNAs via its interaction with the CCR4-NOT complex, and blocks decapping via interaction with eIF4E (EIF4E and EIF4E2), thereby protecting deadenylated and repressed mRNAs from degradation (PubMed:27342281, PubMed:32354837). Component of a multiprotein complex that sequesters and represses translation of proneurogenic factors during neurogenesis (By similarity). Promotes miRNA-mediated translational repression (PubMed:24335285, PubMed:27342281, PubMed:28487484). Required for the formation of P-bodies (PubMed:16157702, PubMed:22966201, PubMed:27342281, PubMed:32354837). Involved in mRNA translational repression mediated by the miRNA effector TNRC6B by protecting TNRC6B-targeted mRNAs from decapping and subsequent decay (PubMed:32354837). Also acts as a nucleoplasmic shuttling protein, which mediates the nuclear import of EIF4E and DDX6 by a piggy-back mechanism (PubMed:10856257, PubMed:28216671)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency., [RefSeq, PubMed]; Human P bodies contain the cap-binding protein eIF4E and the related factor eIF4E-transporter (eIF4E-T), suggesting novel roles for these proteins in targeting mRNAs for 5' --> 3' degradation, [RefSeq, PubMed]; POI-associated EIF4ENIF1 mutations exhibit impaired translation regulation abilities., [RefSeq, PubMed]; The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]., [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": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 37, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B1AKL2;B1AKL3;B2RBF1;Q8NCF2;Q9H708", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019900 kinase binding;GO:0005049 nuclear export signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0016607 nuclear speck", "go_biological_process": "GO:0048255 mRNA stabilization;GO:0017148 negative regulation of translation;GO:0035278 miRNA-mediated gene silencing by inhibition of translation;GO:0060213 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening;GO:0033962 P-body assembly", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9NRA8-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGI9-1", "uniprot_id": [ { "id": "AAKG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGI9", "type": "external" } ], "mass": 54258.0, "length": 489, "protein_name": "5'-AMP-activated protein kinase subunit gamma-3", "gene_name": "PRKAG3", "organism": "Human", "refseq_name": "5'-AMP-activated protein kinase subunit gamma-3", "refseq_ac": [ { "id": "NP_059127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059127", "type": "external" } ], "gene_names_uniprotkb": "PRKAG3; AMPKG3", "gene_names_refseq": "AMPKG3; PRKAG3; SMGMQTL", "protein_names_uniprotkb": "5'-AMP-activated protein kinase subunit gamma-3; AMPK gamma3; AMPK subunit gamma-3", "protein_names_refseq": "5'-AMP-activated protein kinase subunit gamma-3; 5'-AMP-activated protein kinase, gamma-3 subunit; AMPK gamma-3 chain; AMPK gamma3; AMPK subunit gamma-3; protein kinase, AMP-activated, gamma 3 non-catalytic subunit", "tax_id": 9606, "disease": "lethal congenital glycogen storage disease of heart (Disease Ontology:DOID:0090101); neurodegenerative disease (Disease Ontology:DOID:1289); Wolff-Parkinson-White syndrome (Disease Ontology:DOID:384); obsolete skeletal muscle glycogen content and metabolism quantitative trait locus (MONDO:MONDO:0033571)", "pathway": " (hsa:53632); (R-HSA-1445148); (R-HSA-1632852); (R-HSA-2151209); (R-HSA-380972); (R-HSA-5628897); (R-HSA-6804756); (R-HSA-9613354); (R-HSA-9619483); (R-HSA-9931269)", "pathway_count": 10, "publication_count": 180, "publication_id_list": "10329961;10435622;10500146;10570149;10601328;10604467;10673500;10673501;10698692;10710310;10716435;10745013;10818001;10884347;10980602;11018120;11029283;11034341;11096062;11237011;11239457;11340051;11447225;11481440;11486029;11511362;11545734;11546806;11551930;11740489;11780126;11825910;11959846;12064478;12161445;12203114;12393879;12438239;12453409;12702766;12714747;12805220;12851404;12869586;12906785;12914926;13298683;13538944;14511394;14517248;14614828;14651849;14702041;14722619;14985505;15053879;15105503;15187094;15223;15579580;15589136;15591024;15866171;15919790;15971998;16140933;16322561;16413492;16636147;16728594;16760263;16839880;16880201;16943194;16963840;17099248;17108107;17255938;17298220;17307971;17349958;17369524;17486094;17540029;17591690;17618624;17712357;17878938;17995453;18198340;18321988;18344994;18439900;18490454;18692468;19013499;19112161;19113821;19121998;19211835;19252894;19322194;19439913;19487573;19590496;19822145;19855179;19898463;19965871;20059746;20080666;20182617;20351271;20378837;20631154;20701589;20713597;20837646;20921139;20937701;20959462;21177865;21205641;21258367;21317932;21383122;21451146;21454505;21454690;21460621;21460634;21750704;21819378;21907143;21958598;22170151;22363791;22682742;23000554;23202584;23485397;23676219;23685627;23727157;23775793;23884233;24066844;24145406;24366874;24383451;24563466;24718924;24747438;24874608;24954904;25484072;2550440;25568151;25579166;25961502;26652033;26902588;29393594;30118680;35051231;35580925;37506328;39171449;5666113;7628435;7979252;7989588;8094051;8119488;8549768;8664345;8779952;9374491;9925639;9926927", "class_list": "", "function": "AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism (PubMed:14722619, PubMed:17878938, PubMed:24563466). In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. AMPK also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. The AMPK gamma3 subunit is a non-catalytic subunit with a regulatory role in muscle energy metabolism (PubMed:17878938). It mediates binding to AMP, ADP and ATP, leading to AMPK activation or inhibition: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive., [UniProtKB, PubMed, PubMed, PubMed]; AMPKgamma3 Controls Muscle Glucose Uptake in Recovery From Exercise to Recapture Energy Stores., [RefSeq, PubMed]; Functional analysis of the pig counterpart., [RefSeq, PubMed]; The human AMPKgamma3 R225W mutation negatively impacts site-1 nucleotide binding and does not enhance basal AMPKgamma3-associated activity nor glycogen production in human or mouse skeletal muscle., [RefSeq, PubMed]; The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4QQG8;Q4V779;Q9NRL1", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0004679 AMP-activated protein kinase activity;GO:0016208 AMP binding;GO:0019887 protein kinase regulator activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0006110 regulation of glycolytic process;GO:0035556 intracellular signal transduction;GO:0006633 fatty acid biosynthetic process;GO:0031669 cellular response to nutrient levels;GO:0042149 cellular response to glucose starvation", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "Q9UGI9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULW3-1", "uniprot_id": [ { "id": "ABT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULW3", "type": "external" } ], "mass": 31079.0, "length": 272, "protein_name": "Activator of basal transcription 1", "gene_name": "ABT1", "organism": "Human", "refseq_name": "activator of basal transcription 1", "refseq_ac": [ { "id": "NP_037507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037507", "type": "external" } ], "gene_names_uniprotkb": "ABT1", "gene_names_refseq": "ABT1; Esf2; hABT1", "protein_names_uniprotkb": "Activator of basal transcription 1; Basal transcriptional activator; hABT1", "protein_names_refseq": "TATA-binding protein-binding protein; activator of basal transcription 1; basal transcriptional activator", "tax_id": 9606, "disease": "", "pathway": " (hsa:29777)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10648625;19299493;24366607;24715725;25576301;26154972;27846572;27920218;28063628;28218747;28832583;28904123;29242379;29437277;29493099;29557506;29632046;29632711;29786170;30429286;30484775;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32357974;32938616;32983136;33392160;33936100;33968037;34171305;34561969;34932366;35051231;35561310;35580925;36010968;36215666;36284347;37938771;39894887", "class_list": "", "function": "Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008]., [RefSeq]; Could be a novel TATA-binding protein (TBP) which can function as a basal transcription activator. Can act as a regulator of basal transcription for class II genes (By similarity)., [UniProtKB]", "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005667 transcription regulator 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:0006366 transcription by RNA polymerase II;GO:0034462 small-subunit processome assembly", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9ULW3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y615-1", "uniprot_id": [ { "id": "ACL7A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y615", "type": "external" } ], "mass": 48644.0, "length": 435, "protein_name": "Actin-like protein 7A", "gene_name": "ACTL7A", "organism": "Human", "refseq_name": "actin-like protein 7A", "refseq_ac": [ { "id": "NP_006678", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006678", "type": "external" } ], "gene_names_uniprotkb": "ACTL7A", "gene_names_refseq": "ACTL7A; SPGF86", "protein_names_uniprotkb": "Actin-like protein 7A; Actin-like-7-alpha", "protein_names_refseq": "actin-like 7-alpha; actin-like protein 7A; testicular secretory protein Li 3", "tax_id": 9606, "disease": "spermatogenic failure 86 (Disease Ontology:DOID:0070585); Baraitser-Winter syndrome 1 (Disease Ontology:DOID:0081112); autosomal dominant nonsyndromic deafness 20 (Disease Ontology:DOID:0110550); intestinal atresia (Disease Ontology:DOID:10486); male infertility (Disease Ontology:DOID:12336); Moyamoya disease (Disease Ontology:DOID:13099); patent ductus arteriosus (Disease Ontology:DOID:13832); thoracic aortic aneurysm (Disease Ontology:DOID:14004); bladder urothelial carcinoma (Disease Ontology:DOID:4006)", "pathway": " (hsa:10881)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10373328;17644991;21278383;32923619;33626338;34087483;34727571;36574082;36593593;36734600;37004249;37286336", "class_list": "", "function": "A novel homozygous mutation in ACTL7A leads to male infertility., [RefSeq, PubMed]; A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns., [RefSeq, PubMed]; Essential for normal spermatogenesis and male fertility. Required for normal sperm head morphology, acroplaxome formation, acrosome attachment, and acrosome granule stability. May anchor and stabilize acrosomal adherence to the acroplaxome at least in part by facilitating the presence of F-actin in the subacrosomal space (By similarity). May play an important role in formation and fusion of Golgi-derived vesicles during acrosome biogenesis (PubMed:32923619)., [UniProtKB, UniProtKB, PubMed]; Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure., [RefSeq, PubMed]; Testis-specific actin-like 7A (ACTL7A) is an indispensable protein for subacrosomal-associated F-actin formation, acrosomal anchoring, and male fertility., [RefSeq, PubMed]; The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [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, "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": 2, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 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"Ankyrin repeat domain-containing protein 18B", "gene_name": "ANKRD18B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ANKRD18B", "gene_names_refseq": "", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 18B", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 16, "publication_id_list": "11237011;26811146;29242379;29437277;29557506;31844290;32357974;32938616;33298915;33592498;33633747;33912179;33936100;33968037;34357683;35051231", "class_list": "", "function": "", "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": 5, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "A2A2Z9-1", "record_type": "protein", "filter_code": "0000000.1000100.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B4E2M5-1", "uniprot_id": [ { "id": "ANR66_HUMAN", "url": "https://www.uniprot.org/uniprot/B4E2M5", "type": "external" } ], "mass": 22026.0, "length": 196, "protein_name": "Ankyrin repeat domain-containing protein 66", "gene_name": "ANKRD66", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 66", "refseq_ac": [ { "id": "NP_001155907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155907", "type": "external" } ], "gene_names_uniprotkb": "ANKRD66", "gene_names_refseq": "ANKRD66", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 66", "protein_names_refseq": "ankyrin repeat domain-containing protein 66", "tax_id": 9606, "disease": "", "pathway": " (hsa:100287718)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;31154438", "class_list": "", "function": "", "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": 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": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "B4E2M5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "E5RJM6-1", "uniprot_id": [ { "id": "ANR65_HUMAN", "url": "https://www.uniprot.org/uniprot/E5RJM6", "type": "external" } ], "mass": 41497.0, "length": 399, "protein_name": "Ankyrin repeat domain-containing protein 65", "gene_name": "ANKRD65", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 65 isoform 1", "refseq_ac": [ { "id": "NP_001138682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138682", "type": "external" } ], "gene_names_uniprotkb": "ANKRD65", "gene_names_refseq": "ANKRD65", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 65", "protein_names_refseq": "ankyrin repeat domain-containing protein 65 isoform 1; ankyrin repeat domain-containing protein 65", "tax_id": 9606, "disease": "", "pathway": " (hsa:441869)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "26811146;26992070;29557506;31154438;32502341;35051231", "class_list": "", "function": "", "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": 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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "J3KR93", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "E5RJM6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43423-1", "uniprot_id": [ { "id": "AN32C_HUMAN", "url": "https://www.uniprot.org/uniprot/O43423", "type": "external" } ], "mass": 26762.0, "length": 234, "protein_name": "Putative uncharacterized protein ANP32CP", "gene_name": "ANP32CP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ANP32CP; PP32R1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ANP32CP; Acidic leucine-rich nuclear phosphoprotein 32 family member C; Phosphoprotein 32-related protein 1; Tumorigenic protein pp32r1", "protein_names_refseq": "", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "10086381;15146458;15895553;32157095;32387766", "class_list": "", "function": "", "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": 0, "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": "Q4W5F9", "ec_number_list": [], "go_molecular_function": "GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "O43423-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92624-1", "uniprot_id": [ { "id": "APBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92624", "type": "external" } ], "mass": 66853.0, "length": 585, "protein_name": "Amyloid protein-binding protein 2", "gene_name": "APPBP2", "organism": "Human", "refseq_name": "amyloid protein-binding protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001269405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269405", "type": "external" } ], "gene_names_uniprotkb": "APPBP2; KIAA0228; PAT1", "gene_names_refseq": "APP-BP2; APPBP2; HS.84084; PAT1", "protein_names_uniprotkb": "Amyloid protein-binding protein 2; APP-BP2; Amyloid beta precursor protein-binding protein 2; Protein interacting with APP tail 1", "protein_names_refseq": "amyloid beta precursor protein (cytoplasmic tail) binding protein 2; amyloid protein-binding protein 2 isoform 2; amyloid protein-binding protein 2; protein interacting with APP tail 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10513)", "pathway_count": 1, "publication_count": 96, "publication_id_list": "11237011;11742091;12915535;22424782;22645359;23481700;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26024233;26138980;26154972;26375851;26728094;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29769354;29775578;29779948;29786170;29789417;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34211107;34405274;34509645;34561969;34861803;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37844242;37938771;38170390;9843960", "class_list": "", "function": "Association of the herpes simplex virus type 1 Us11 gene product with the cellular kinesin light-chain-related protein PAT1 results in the redistribution of both polypeptides., [RefSeq, PubMed]; CRL2[APPBP2]-mediated TSPYL2 degradation counteracts human mesenchymal stem cell senescence., [RefSeq, PubMed]; Circ_SETD3 regulates gefitinib sensitivity and tumor progression by miR-873-5p-dependent regulation of APPBP2 in non-small cell lung cancer., [RefSeq, PubMed]; Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation (PubMed:29775578, PubMed:29779948, PubMed:37844242). The C-degron recognized by the DesCEND pathway is usually a motif of less than ten residues and can be present in full-length proteins, truncated proteins or proteolytically cleaved forms (PubMed:29775578, PubMed:29779948, PubMed:37844242). The CRL2(APPBP2) complex specifically recognizes proteins with a -Arg-Xaa-Xaa-Gly degron at the C-terminus, leading to their ubiquitination and degradation (PubMed:29775578, PubMed:29779948, PubMed:37844242). The CRL2(APPBP2) complex mediates ubiquitination and degradation of truncated SELENOV selenoproteins produced by failed UGA/Sec decoding, which end with a -Arg-Xaa-Xaa-Gly degron (PubMed:26138980, PubMed:37844242). The CRL2(APPBP2) complex negatively regulates beige adipocyte differentiation by mediating ubiquitination and degradation of PRDM16 (By similarity). May play a role in intracellular protein transport: may be involved in the translocation of APP along microtubules toward the cell surface (PubMed:9843960)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The 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. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [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": 6, "reported_glycation": 0, "reported_snv": 1, "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": "A8K862;O95095;Q8WVC9", "ec_number_list": [], "go_molecular_function": "GO:0003777 microtubule motor activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0046907 intracellular transport;GO:0140627 ubiquitin-dependent protein catabolic process via the C-end degron rule pathway", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q92624-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKV8-1", "uniprot_id": [ { "id": "AGO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKV8", "type": "external" } ], "mass": 97208.0, "length": 859, "protein_name": "Protein argonaute-2", "gene_name": "AGO2", "organism": "Human", "refseq_name": "protein argonaute-2 isoform 2", "refseq_ac": [ { "id": "NP_001158095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158095", "type": "external" } ], "gene_names_uniprotkb": "AGO2; EIF2C2", "gene_names_refseq": "AGO2; CASC7; EIF2C2; LESKRES; LINC00980; PPD; Q10", "protein_names_uniprotkb": "Protein argonaute-2; 3.1.26.n2; Argonaute RISC catalytic component 2; Argonaute2; Eukaryotic translation initiation factor 2C 2; PAZ Piwi domain protein; PPD; Protein slicer; eIF-2C 2; eIF2C 2; hAgo2", "protein_names_refseq": "PAZ Piwi domain protein; argonaute 2, RISC catalytic component; cancer susceptibility candidate 7 (non-protein coding); eukaryotic translation initiation factor 2C, 2; long intergenic non-protein coding RNA 980; protein argonaute-2 isoform 2; protein argonaute-2; protein slicer", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); BH4-deficient hyperphenylalaninemia D (Disease Ontology:DOID:0081131); glaucoma (Disease Ontology:DOID:1686); morphine dependence (Disease Ontology:DOID:2560); Lessel-Kreienkamp syndrome (MONDO:MONDO:0030897)", "pathway": " (hsa:27161); (R-HSA-165159); (R-HSA-1912408); (R-HSA-203927); (R-HSA-4086398); (R-HSA-426486); (R-HSA-426496); (R-HSA-5578749); (R-HSA-5628897); (R-HSA-5687128); (R-HSA-8934593); (R-HSA-8943723); (R-HSA-8948700); (R-HSA-8948747); (R-HSA-8986944); (R-HSA-9018519); (R-HSA-9022692); (R-HSA-9029569); (R-HSA-9725371); (R-HSA-9759811); (R-HSA-9764562); (R-HSA-9768778); (R-HSA-9820841); (R-HSA-9824594); (R-HSA-9839394); (R-HSA-9909620)", "pathway_count": 26, "publication_count": 643, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Upon Sars-CoV-2 infection, associates with viral miRNA-like small RNA, CoV2-miR-O7a, and may repress mRNAs, such as BATF2, to evade the IFN response., [UniProtKB, PubMed]; Ago2/CAV1 interaction potentiates metastasis via controlling Ago2 localization and miRNA action. Erratum:[EMBO Rep. 2024 Jul;25(7):3160. doi: 10.1038/s44319-024-00162-1. PMID: 38839945], [RefSeq, PubMed]; CRISPR-Cas9 Mediated AGO2 Knockout inhibits tumorigenesis in human colorectal cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Elucidating microRNA-34a organisation within human Argonaute-2 by dynamic nuclear polarisation-enhanced magic angle spinning NMR., [RefSeq, PubMed]; Loss of Lamin A leads to the nuclear translocation of AGO2 and compromised RNA interference., [RefSeq, PubMed]; Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). The 'minimal RISC' appears to include AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC-mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the mRNA specifically by AGO2. Binding of RISC to a partially complementary mRNA results in silencing through inhibition of translation, and this is independent of endonuclease activity. May inhibit translation initiation by binding to the 7-methylguanosine cap, thereby preventing the recruitment of the translation initiation factor eIF4-E. May also inhibit translation initiation via interaction with EIF6, which itself binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit. The inhibition of translational initiation leads to the accumulation of the affected mRNA in cytoplasmic processing bodies (P-bodies), where mRNA degradation may subsequently occur. In some cases RISC-mediated translational repression is also observed for miRNAs that perfectly match the 3' untranslated region (3'-UTR). Can also up-regulate the translation of specific mRNAs under certain growth conditions. Binds to the AU element of the 3'-UTR of the TNF mRNA and up-regulates translation under conditions of serum starvation. Also required for transcriptional gene silencing (TGS), in which short RNAs known as antigene RNAs or agRNAs direct the transcriptional repression of complementary promoter regions., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, HAMAP, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 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, "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 29, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8TCZ5;Q8WV58;Q96ID1", "ec_number_list": [ { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.37", "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": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "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": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.26.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0003725 double-stranded RNA binding;GO:0003727 single-stranded RNA binding;GO:0035198 miRNA binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0070922 RISC complex assembly;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045766 positive regulation of angiogenesis;GO:0042985 negative regulation of amyloid precursor protein biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 64.8, "record_id": "Q9UKV8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IF1-1", "uniprot_id": [ { "id": "AJUBA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IF1", "type": "external" } ], "mass": 56934.0, "length": 538, "protein_name": "LIM domain-containing protein ajuba", "gene_name": "AJUBA", "organism": "Human", "refseq_name": "LIM domain-containing protein ajuba isoform 3", "refseq_ac": [ { "id": "NP_001276026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276026", "type": "external" } ], "gene_names_uniprotkb": "AJUBA; JUB", "gene_names_refseq": "AJUBA; JUB", "protein_names_uniprotkb": "LIM domain-containing protein ajuba", "protein_names_refseq": "LIM domain-containing protein ajuba isoform 3; LIM domain-containing protein ajuba; jub, ajuba homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:84962); (R-HSA-1234176); (R-HSA-2565942); (R-HSA-5617472); (R-HSA-9841922)", "pathway_count": 5, "publication_count": 147, "publication_id_list": "10425206;10535940;10558993;10777502;10823831;10835357;10878807;10882139;10944113;10973499;11024059;11027271;11237011;11292861;11292862;11358837;11454738;11504942;11598268;12101228;12207013;12351678;12364337;12417594;12538644;12615973;12788921;12821933;12829629;12912907;1310260;13678582;15247232;15474027;15652751;15867264;15870274;15987702;16079151;16380219;16413547;16549775;16738327;16890155;16964243;17081983;17182618;17185360;17428788;17434750;1756725;17660710;17713478;17761849;17761950;17851529;17909014;18184961;18212344;18331720;18337469;18378770;18477460;18521620;18566290;18615013;18669648;18691976;18781158;18805794;19043829;19115252;19172745;19208626;19232136;19651622;19664994;19664995;19747919;1975088;19782034;19854132;20058876;20068231;20085832;20303269;20616046;21335549;21406692;22286099;22365832;22569366;22641346;22705304;22879880;23186163;23219899;23534758;23630040;24174538;24275569;24312487;24586203;25101834;25135475;25645385;2570724;25913784;27226586;28904123;29242379;29393594;29557506;31844290;32157095;32161166;32488085;32938616;33329381;33402344;33592498;33968037;34087483;34706234;35178446;35580925;36010968;36241641;36931700;37217939;7488013;7501971;7831296;7906964;7908827;8521497;8521498;8674428;8759021;9065481;9122164;9171241;9218805;9272954;9482740;9744270;9891082", "class_list": "", "function": "Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, mitosis, cell-cell adhesion, cell differentiation, proliferation and migration. Contributes to the linking and/or strengthening of epithelia cell-cell junctions in part by linking adhesive receptors to the actin cytoskeleton. May be involved in signal transduction from cell adhesion sites to the nucleus. Plays an important role in regulation of the kinase activity of AURKA for mitotic commitment. Also a component of the IL-1 signaling pathway modulating IL-1-induced NFKB1 activation by influencing the assembly and activity of the PRKCZ-SQSTM1-TRAF6 multiprotein signaling complex. Functions as an HDAC-dependent corepressor for a subset of GFI1 target genes. Acts as a transcriptional corepressor for SNAI1 and SNAI2/SLUG-dependent repression of E-cadherin transcription. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. Positively regulates microRNA (miRNA)-mediated gene silencing. Negatively regulates the Hippo signaling pathway and antagonizes phosphorylation of YAP1., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Ajuba Overexpression Promotes Breast Cancer Chemoresistance and Glucose Uptake through TAZ-GLUT3/Survivin Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Ajuba contributes to the bridging of the cadherin adhesive complexes to the actin cytoskeleton and as such contribute to the formation or strengthening of cadherin-mediated cell-cell adhesion., [RefSeq, PubMed]; LIM domain-containing protein Ajuba inhibits chemotherapy-induced apoptosis by negatively regulating p53 stability in colorectal cancer cells., [RefSeq, PubMed]; Mitophagy antagonism by ZIKV reveals Ajuba as a regulator of PINK1 signaling, PKR-dependent inflammation, and viral invasion of tissues., [RefSeq, 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, "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": 9, "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": "A8MX18;D3DS37", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0046872 metal ion binding;GO:0051015 actin filament binding;GO:0003714 transcription corepressor activity;GO:0030295 protein kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007155 cell adhesion;GO:0001666 response to hypoxia;GO:0006355 regulation of DNA-templated transcription;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q96IF1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14155-4", "uniprot_id": [ { "id": "ARHG7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14155", "type": "external" } ], "mass": 90012.0, "length": 803, "protein_name": "Rho guanine nucleotide exchange factor 7", "gene_name": "ARHGEF7", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 7 isoform c", "refseq_ac": [ { "id": "NP_001106983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106983", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF7; COOL1; KIAA0142; Nbla10314; P85SPR; PAK3BP; PIXB", "gene_names_refseq": "ARHGEF7; BETA-PIX; COOL-1; COOL1; Nbla10314; P50BP; P50; P85COOL1; P85SPR; P85; PAK3; PIXB", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 7; Beta-Pix; COOL-1; PAK-interacting exchange factor beta; p85", "protein_names_refseq": "PAK-interacting exchange factor beta; Rho guanine nucleotide exchange factor (GEF) 7; SH3 domain-containing proline-rich protein; rho guanine nucleotide exchange factor 7 isoform c", "tax_id": 9606, "disease": "cerebrovascular disease (Disease Ontology:DOID:6713)", "pathway": " (hsa:8874); (R-HSA-182971); (R-HSA-193648); (R-HSA-3928664); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9013420); (R-HSA-9013424)", "pathway_count": 12, "publication_count": 484, "publication_id_list": 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"class_list": "", "function": "Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade, promotes the formation of spines and synapses in hippocampal neurons., [UniProtKB, PubMed, PubMed, PubMed]; Beta-Pix-dynamin 2 complex promotes colorectal cancer progression by facilitating membrane dynamics., [RefSeq, PubMed]; SRC kinase activator CDCP1 promotes hepatocyte growth factor-induced cell migration/invasion of a subset of breast cancer cells., [RefSeq, PubMed]; This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]., [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": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B1ALK6;B1ALK8;Q3LIA4;Q5W9H0;Q6P9G3;Q6PII2;Q86W63;Q8N3M1", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0043015 gamma-tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0005938 cell cortex", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0043065 positive regulation of apoptotic process;GO:0048013 ephrin receptor signaling pathway;GO:0007266 Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 49.0, "record_id": "Q14155-4", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96L14-1", "uniprot_id": [ { "id": "C170L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96L14", "type": "external" } ], "mass": 32648.0, "length": 293, "protein_name": "Cep170-like protein", "gene_name": "CEP170P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CEP170P1; CEP170L; KIAA0470L", "gene_names_refseq": "", "protein_names_uniprotkb": "Cep170-like protein; CEP170 pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "23481700;26154972;29557506;30315122;30410026;30484775;31154438;31530632", "class_list": "", "function": "", "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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96L14-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0F1-1", "uniprot_id": [ { "id": "CEP44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0F1", "type": "external" } ], "mass": 44140.0, "length": 390, "protein_name": "Centrosomal protein of 44 kDa", "gene_name": "CEP44", "organism": "Human", "refseq_name": "centrosomal protein of 44 kDa isoform a", "refseq_ac": [ { "id": "NP_001035247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035247", "type": "external" } ], "gene_names_uniprotkb": "CEP44; KIAA1712", "gene_names_refseq": "CEP44; KIAA1712; PS1TP3", "protein_names_uniprotkb": "Centrosomal protein of 44 kDa; Cep44; HBV PreS1-transactivated protein 3; PS1TP3", "protein_names_refseq": "HBV PreS1-transactivated protein 3; centrosomal protein 44kDa; centrosomal protein of 44 kDa isoform a; centrosomal protein of 44 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:80817)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;18669648;21399614;23186163;23301498;23481700;25418920;25576301;26154972;28904123;29557506;30379171;30429286;30620550;31154438;31492838;31530632;31844290;31974111;32060285;32157095;32161166;32357974;32387766;32488085;32502341;32574038;32897882;32938616;33141586;33392160;33912179;33968037;34087483;34509645;34932366;35051231;35132862;35254053;35580925;36010968;36215666;36241641;37938771;39531497;40307207;40596516;40906019", "class_list": "", "function": "CEP44 was identified as a luminal centriolar protein that binds to A-MTs and the inner centriole protein POC1B. Publication Status: Online-Only, [RefSeq, PubMed]; Centriole-enriched microtubule-binding protein involved in centriole biogenesis. In collaboration with CEP295 and POC1B, is required for the centriole-to-centrosome conversion by ensuring the formation of bona fide centriole wall (PubMed:32060285). Functions as a linker component that maintains centrosome cohesion. Associates with CROCC and regulates its stability and localization to the centrosome (PubMed:31974111)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Cep44 functions in centrosome cohesion by stabilizing rootletin. 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, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 12, "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": "A8K8W9;A8MW11;B3KT53;D3DP42;Q8IXZ4", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005814 centriole;GO:0030496 midbody;GO:0036064 ciliary basal body", "go_biological_process": "GO:0007098 centrosome cycle;GO:0010457 centriole-centriole cohesion;GO:0007099 centriole replication", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9C0F1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99259-1", "uniprot_id": [ { "id": "DCE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99259", "type": "external" } ], "mass": 66897.0, "length": 594, "protein_name": "Glutamate decarboxylase 1", "gene_name": "GAD1", "organism": "Human", "refseq_name": "glutamate decarboxylase 1 isoform GAD67", "refseq_ac": [ { "id": "NP_000808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000808", "type": "external" } ], "gene_names_uniprotkb": "GAD1; GAD67; GAD", "gene_names_refseq": "CPSQ1; DEE89; GAD-67; GAD1; GAD; SCP", "protein_names_uniprotkb": "Glutamate decarboxylase 1; 4.1.1.15; 67 kDa glutamic acid decarboxylase; GAD-67; Glutamate decarboxylase 67 kDa isoform", "protein_names_refseq": "67 kDa glutamic acid decarboxylase; glutamate decarboxylase 1 (brain, 67kDa); glutamate decarboxylase 1 isoform GAD67", "tax_id": 9606, "disease": "spastic cerebral palsy (Disease Ontology:DOID:0050669); alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); developmental and epileptic encephalopathy 89 (Disease Ontology:DOID:0112223); alcohol use disorder (Disease Ontology:DOID:1574); drug psychosis (Disease Ontology:DOID:1742); epilepsy (Disease Ontology:DOID:1826); anxiety disorder (Disease Ontology:DOID:2030); transient cerebral ischemia (Disease Ontology:DOID:224); morphine dependence (Disease Ontology:DOID:2560); bipolar disorder (Disease Ontology:DOID:3312); schizophrenia (Disease Ontology:DOID:5419); amphetamine abuse (Disease Ontology:DOID:670); colorectal cancer (Disease Ontology:DOID:9256); diabetes mellitus (Disease Ontology:DOID:9351); heroin dependence (Disease Ontology:DOID:9976); neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (MONDO:MONDO:0033613)", "pathway": " (hsa:2571); (R-HSA-888568); (R-HSA-888590); (R-HSA-9022927)", "pathway_count": 4, "publication_count": 43, "publication_id_list": "10671565;10907121;11017172;11237011;12750892;1339255;14691540;15147202;1549570;15571623;15728483;16722236;16759710;1683462;1697032;17384644;17767149;18452278;19375301;2039509;23126365;25358241;26992070;27600516;29557506;31154438;31844290;32282878;32488085;32938616;33634263;33968037;34087483;34638827;34845648;35023669;35318648;36241641;39168087;39264832;8088791;8507202;8507203", "class_list": "", "function": "A preliminary genetic association study of GAD1 and GABAB receptor genes in patients with treatment-resistant schizophrenia., [RefSeq, PubMed]; Association of GAD1 gene polymorphism rs3749034 with the information processing and cognitive event-related potentials in schizophrenia patients and healthy subjects., [RefSeq, PubMed]; Cannabinoid Receptor Type 1 Regulates Drug Reward Behavior via Glutamate Decarboxylase 67 Transcription. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) with pyridoxal 5'-phosphate as cofactor., [UniProtKB, PubMed, PubMed]; Enzymatically inactive as glutamate decarboxylase., [UniProtKB, PubMed]; Evaluation of the Diagnostic and Predictive Value of Glutamic Acid Decarboxylase, Zinc Transporter 8 Serum Levels in Alzheimer's Disease., [RefSeq, PubMed]; GAD1 ameliorates glioma progression through regulating cuproptosis via RAS/MAPK pathway., [RefSeq, PubMed]; This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [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, "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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 18, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q49AK1;Q53TQ7;Q9BU91;Q9UHH4", "ec_number_list": [ { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "4.1.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.15", "type": "external" } ], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0042802 identical protein binding;GO:0004351 glutamate decarboxylase activity;GO:0016831 carboxy-lyase activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0043679 axon terminus", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0006538 L-glutamate catabolic process;GO:0006540 gamma-aminobutyrate shunt;GO:0009449 gamma-aminobutyric acid biosynthetic process;GO:0019752 carboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q99259-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52597-1", "uniprot_id": [ { "id": "HNRPF_HUMAN", "url": "https://www.uniprot.org/uniprot/P52597", "type": "external" } ], "mass": 45672.0, "length": 415, "protein_name": "Heterogeneous nuclear ribonucleoprotein F", "gene_name": "HNRNPF", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein F", "refseq_ac": [ { "id": "NP_001091674", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091674", "type": "external" } ], "gene_names_uniprotkb": "HNRNPF; HNRPF", "gene_names_refseq": "HNRNPF; HNRPF; OK/SW-cl.23; mcs94-1", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein F; Nucleolin-like protein mcs94-1; hnRNP F", "protein_names_refseq": "HnRNP F protein; heterogeneous nuclear ribonucleoprotein F; nucleolin-like protein mcs94-1", "tax_id": 9606, "disease": "renal glycosuria (Disease Ontology:DOID:9432)", "pathway": " (hsa:3185); (R-HSA-6803529); (R-HSA-72163); (R-HSA-72203); (R-HSA-8950505); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 276, "publication_id_list": "10669729;10882114;10938105;10982855;11014198;11054566;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12393912;12411573;12414731;12477934;1351868;14519844;14625303;14654843;14713954;14749727;14762106;15037765;15084397;15161980;15302935;15565158;15592455;15601847;16038020;16314458;16410617;16449636;16603716;16809785;16885237;17081983;17095540;17128255;17332742;17377532;17525332;17606899;17697703;17932509;17959601;18288197;18322460;18452278;18573884;18593880;18669648;18691976;1906035;19103666;19165350;19217410;19285943;19369195;19415658;19536130;19608861;19651622;20068231;20423332;20526337;20695905;20980672;21295486;21406692;21536652;2176635;21911577;22110043;22121020;22223895;22365833;22813749;22869377;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;23576270;23874216;24076191;24149845;24196718;24275569;24304693;24316715;24407421;24448447;24714562;24715725;24737827;24914973;24981863;25301780;25301781;25418920;25555158;25576301;2558966;25645385;25772364;25802875;25810538;25880248;25892735;26092250;26154972;26375851;26385511;26420826;26728094;26758079;26811146;26929215;26969736;26992070;27108190;27377154;27459055;27600516;27655845;27683217;27846572;27862975;27893789;27920218;28062851;28063628;28076346;28096519;28228285;28502770;28649982;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29331515;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29789417;29902443;30139799;30257008;30315122;30315277;30410026;30429286;30444036;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31222486;31409651;31530632;31844290;31848261;32119511;32157095;32161166;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32816001;32897882;32938616;32983136;33043033;33123756;33141586;33177556;33214551;33243851;33298915;33349959;33392160;33446560;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34229054;34301950;34357683;34433824;34561969;34725712;34822310;34932366;35051231;35083852;35132862;35138101;35177536;35215846;35251023;35318648;35385551;35561310;35580925;36010968;36241641;36284347;37217939;37399401;3757028;37938771;38195017;38665916;39531497;39534244;39990658;40596516;40914422;7499401;7512260;8352591;8566756;8608946;9016565;9242493;9271388;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9858549", "class_list": "", "function": "Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Plays a role in the regulation of alternative splicing events. Binds G-rich sequences in pre-mRNAs and keeps target RNA in an unfolded state., [UniProtKB, PubMed]; Heterogeneous nuclear ribonucleoprotein F deficiency in mouse podocyte promotes podocytopathy mediated by methyltransferase-like 14 nuclear translocation resulting in Sirtuin 1 gene inhibition., [RefSeq, PubMed]; The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells., [RefSeq, PubMed]; This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Tyrosine phosphorylation regulates hnRNPA2 granule protein partitioning and reduces neurodegeneration., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KM84;Q5T0N2;Q96AU2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003727 single-stranded RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0006396 RNA processing;GO:0043484 regulation of RNA splicing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 28.1, "record_id": "P52597-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14641-1", "uniprot_id": [ { "id": "DVL2_HUMAN", "url": "https://www.uniprot.org/uniprot/O14641", "type": "external" } ], "mass": 78948.0, "length": 736, "protein_name": "Segment polarity protein dishevelled homolog DVL-2", "gene_name": "DVL2", "organism": "Human", "refseq_name": "segment polarity protein dishevelled homolog DVL-2", "refseq_ac": [ { "id": "NP_004413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004413", "type": "external" } ], "gene_names_uniprotkb": "DVL2", "gene_names_refseq": "DVL2", "protein_names_uniprotkb": "Segment polarity protein dishevelled homolog DVL-2; DSH homolog 2; Dishevelled-2", "protein_names_refseq": "dishevelled 2 (homologous to Drosophila dsh); dishevelled, dsh homolog 2; segment polarity protein dishevelled homolog DVL-2", "tax_id": 9606, "disease": "dextro-looped transposition of the great arteries (Disease Ontology:DOID:0060770); autosomal dominant nonsyndromic deafness 69 (Disease Ontology:DOID:0110590); familial progressive hyperpigmentation with or without hypopigmentation (Disease Ontology:DOID:0111373); pigmentation disease (Disease Ontology:DOID:10123); neurodegenerative disease (Disease Ontology:DOID:1289); Waardenburg syndrome (Disease Ontology:DOID:9258)", "pathway": " (hsa:1856); (R-HSA-201681); (R-HSA-201688); (R-HSA-2028269); (R-HSA-4086400); (R-HSA-4608870); (R-HSA-4641258); (R-HSA-4641262); (R-HSA-5099900); (R-HSA-5368598); (R-HSA-5663220); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-9673324)", "pathway_count": 14, "publication_count": 482, "publication_id_list": 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"class_list": "", "function": "Dishevelled segment polarity protein 2 promotes gastric cancer progression through Wnt/beta-catenin pathway., [RefSeq, PubMed]; Dishevelled2 activates WGEF via its interaction with a unique internal peptide motif of the GEF. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibiting von Hippel-Lindau protein-mediated Dishevelled ubiquitination protects against experimental parkinsonism., [RefSeq, PubMed]; Overexpressions of RHOA, CSNK1A1, DVL2, FZD8, and LRP5 genes enhance gastric cancer development in the presence of Helicobacter pylori., [RefSeq, PubMed]; Plays a role in the signal transduction pathways mediated by multiple Wnt genes (PubMed:24616100). Participates both in canonical and non-canonical Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [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, "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": 16, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 9, "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": "D3DTN3;Q53XM0", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0019901 protein kinase binding;GO:0019904 protein domain specific binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045177 apical part of cell;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0007507 heart development;GO:0032956 regulation of actin cytoskeleton organization;GO:0042127 regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0046330 positive regulation of JNK cascade", "synthesized_glycan_count": 0, "hit_score": 48.5, "record_id": "O14641-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCG1-1", "uniprot_id": [ { "id": "CIP2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCG1", "type": "external" } ], "mass": 102185.0, "length": 905, "protein_name": "Protein CIP2A", "gene_name": "CIP2A", "organism": "Human", "refseq_name": "protein CIP2A", "refseq_ac": [ { "id": "NP_065941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065941", "type": "external" } ], "gene_names_uniprotkb": "CIP2A; KIAA1524", "gene_names_refseq": "CIP2A; KIAA1524; NOCIVA; p90", "protein_names_uniprotkb": "Protein CIP2A; Cancerous inhibitor of PP2A; p90 autoantigen", "protein_names_refseq": "cancerous inhibitor of PP2A; cancerous inhibitor of protein phosphatase 2A; cell proliferation regulating inhibitor of protein phosphatase 2A; p90 autoantigen; protein CIP2A", "tax_id": 9606, "disease": "", "pathway": " (hsa:57650)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12118381;15538718;16964243;17632056;18559589;18691976;19470954;19671842;20068231;22645359;23186163;23301498;23481700;24715725;25576301;25892735;26992070;27920218;28174209;28228285;28514659;28649982;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;30315122;30524438;30779550;30833945;31217245;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34561969;34725712;34932366;35051231;35121901;35561310;35580925;35842428;36010968;36215666;36241641;37165191;37217939;37289585;37316668;37793965;38734318;40914422", "class_list": "", "function": "Acts as an inhibitor of protein phosphatase PP2A (PubMed:17632056). Promotes anchorage-independent cell growth and tumor formation by preventing dephosphorylation of MYC, thereby stabilizing MYC in human malignancies (PubMed:17632056). Together with TOPBP1, plays an essential role in the response to genome instability generated by the presence of acentric chromosome fragments derived from shattered chromosomes within micronuclei (PubMed:35121901, PubMed:35842428, PubMed:37165191, PubMed:37316668). Micronuclei, which are frequently found in cancer cells, consist of chromatin surrounded by their own nuclear membrane: following breakdown of the micronuclear envelope, a process associated with chromothripsis, the CIP2A-TOPBP1 complex tethers chromosome fragments during mitosis to ensure clustered segregation of the fragments to a single daughter cell nucleus, facilitating re-ligation with limited chromosome scattering and loss (PubMed:37165191, PubMed:37316668)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CIP2A and MYC appear to be regulated in a positive feedback loop, wherein they promote each other's expression and gastric cancer cell proliferation., [RefSeq, PubMed]; CIP2A coordinates phosphosignaling, mitosis, and the DNA damage response. Review article, [RefSeq, PubMed]; CIP2A in tumor cells is required for sustained proliferation by preventing cell growth arrest, senescence, or differentiation., [RefSeq, PubMed]; CIP2A is associated with clinical aggressivity in human breast cancer and promotes the malignant growth of breast cancer cells., [RefSeq, PubMed]; Data show that CIP2A/KIAA1524 is a human oncoprotein that inhibits protein phosphatase 2A and stabilizes c-Myc in human malignancies., [RefSeq, PubMed]; Endogenous PP2A inhibitor CIP2A degradation by chaperone-mediated autophagy contributes to the antitumor effect of mitochondrial complex I inhibition., [RefSeq, PubMed]; Loss of function variant in CIP2A associated with female infertility with early embryonic arrest and fragmentation., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1L4J7;B9EGC3;Q6P4G6;Q8WVP8;Q96PI2;Q9H9C6;Q9P204", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0045296 cadherin binding;GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005694 chromosome", "go_biological_process": "GO:0006974 DNA damage response;GO:0051276 chromosome organization;GO:0141112 broken chromosome clustering", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q8TCG1-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GN5-1", "uniprot_id": [ { "id": "CDA7L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GN5", "type": "external" } ], "mass": 52206.0, "length": 454, "protein_name": "Cell division cycle-associated 7-like protein", "gene_name": "CDCA7L", "organism": "Human", "refseq_name": "cell division cycle-associated 7-like protein isoform 2", "refseq_ac": [ { "id": "NP_001120842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120842", "type": "external" } ], "gene_names_uniprotkb": "CDCA7L; HR1; JPO2; R1", "gene_names_refseq": "CDCA7L; JPO2; R1; RAM2", "protein_names_uniprotkb": "Cell division cycle-associated 7-like protein; Protein JPO2; Transcription factor RAM2", "protein_names_refseq": "cell division cycle-associated 7-like protein isoform 2; cell division cycle-associated 7-like protein; transcription factor RAM2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55536)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "11237011;15654081;15994933;16565220;16728402;16735438;16829576;17081983;17322306;18220336;18452278;18669648;19007248;19651622;19664995;19690332;20068231;21406692;23186163;23481700;24715725;25082813;25418920;25548167;25576301;25645385;26154972;26754738;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29632711;29769354;29786170;29961568;29997176;30315122;30410026;30429286;30484775;30524438;30620390;30779550;30833945;31154438;31173217;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33392160;33537174;33633747;33912179;33936100;33968037;34171305;34185709;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36284347", "class_list": "", "function": "CDCA7L is highly expressed in human glioma tissues and that a high CDCA7L expression predicts a poor prognosis of glioma patients. CDCA7L promotes glioma U87 cell growth through CCND1., [RefSeq, PubMed]; Monoamine oxidase A activation of glucocorticoids and androgens is regulated differently by R1 and Sp1, [RefSeq, PubMed]; Plays a role in transcriptional regulation as a repressor that inhibits monoamine oxidase A (MAOA) activity and gene expression by binding to the promoter. Plays an important oncogenic role in mediating the full transforming effect of MYC in medulloblastoma cells. Involved in apoptotic signaling pathways; May act downstream of P38-kinase and BCL-2, but upstream of CASP3/caspase-3 as well as CCND1/cyclin D1 and E2F1., [UniProtKB, PubMed, PubMed, PubMed]; Results identified and confirmed to have downregulated gene expression of SFRP5 in sporadic nonfunctioning pancreatic neuroendocrine tumors (NFPanNETs) and CDCA7L and RBM47 in MEN1-related NFPanNETs., [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": 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": 19, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 8, "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": "A4D141;A6NF50;B3KTR5;B4DUT3;C9K0Y1;Q6PIL4;Q86YT0;Q8IXN5;Q96C70;Q9H9A2;Q9NPV2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0001650 fibrillar center", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q96GN5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60506-1", "uniprot_id": [ { "id": "HNRPQ_HUMAN", "url": "https://www.uniprot.org/uniprot/O60506", "type": "external" } ], "mass": 69603.0, "length": 623, "protein_name": "Heterogeneous nuclear ribonucleoprotein Q", "gene_name": "SYNCRIP", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein Q isoform 2", "refseq_ac": [ { "id": "NP_001153145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153145", "type": "external" } ], "gene_names_uniprotkb": "SYNCRIP; HNRPQ; NSAP1", "gene_names_refseq": "GRY-RBP; GRYRBP; HNRNPQ; HNRPQ1; NSAP1; PP68; SYNCRIP; hnRNP-Q", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein Q; GRY-RBP; Glycine- and tyrosine-rich RNA-binding protein; NS1-associated protein 1; Synaptotagmin-binding, cytoplasmic RNA-interacting protein; hnRNP Q", "protein_names_refseq": "NS1-associated protein 1; glycine- and tyrosine-rich RNA-binding protein; heterogeneous nuclear ribonucleoprotein Q isoform 2; heterogeneous nuclear ribonucleoprotein Q", "tax_id": 9606, "disease": "", "pathway": " (hsa:10492)", "pathway_count": 1, "publication_count": 140, "publication_id_list": "11051545;11134005;11237011;11352648;11574476;11991638;12376575;12601080;15479637;16765914;17074750;17289661;17525332;18991276;19029303;19523114;19608861;19647514;20068231;20305658;21515746;22121020;22869377;23071094;23186163;23301498;23455924;23481700;24366607;24714562;24715725;25418920;25505266;25576301;25645385;25802875;25810538;25892735;26154972;26375851;26728094;26758079;26768311;26811146;26929215;26992070;27397612;27600516;27846572;27920218;28218747;28228285;28467828;28510447;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30315122;30379171;30397120;30410026;30429286;30484775;30524438;31020640;31217245;31844290;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34157790;34171305;34185709;34357683;34405274;34433824;34509645;34561969;34725712;34931806;34932366;35051231;35083852;35132862;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37217939;37559347;37938771;38665916;39990658;40914422;9731529;9847309", "class_list": "", "function": "Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder., [RefSeq, PubMed]; Heterogenous nuclear ribonucleoprotein (hnRNP) implicated in mRNA processing mechanisms. Component of the CRD-mediated complex that promotes MYC mRNA stability. Isoform 1, isoform 2 and isoform 3 are associated in vitro with pre-mRNA, splicing intermediates and mature mRNA protein complexes. Isoform 1 binds to apoB mRNA AU-rich sequences. Isoform 1 is part of the APOB mRNA editosome complex and may modulate the postranscriptional C to U RNA-editing of the APOB mRNA through either by binding to A1CF (APOBEC1 complementation factor), to APOBEC1 or to RNA itself. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. Interacts in vitro preferentially with poly(A) and poly(U) RNA sequences. Isoform 3 may be involved in cytoplasmic vesicle-based mRNA transport through interaction with synaptotagmins. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma activation assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation; does not seem to be essential for GAIT complex function., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Oculopharyngeal muscular dystrophy mutations link the RNA-binding protein HNRNPQ to autophagosome biogenesis., [RefSeq, PubMed]; This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011]., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E1P501;E1P502;Q53H05;Q5TCG2;Q5TCG3;Q8IW78;Q8N599;Q96LC1;Q96LC2;Q9Y583", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0048027 mRNA 5'-UTR binding", "go_cellular_component": "GO:0071204 histone pre-mRNA 3'end processing complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0070934 CRD-mediated mRNA stabilization;GO:2000767 positive regulation of cytoplasmic translation;GO:0006396 RNA processing;GO:0016556 mRNA modification;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "O60506-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGI8-1", "uniprot_id": [ { "id": "TES_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGI8", "type": "external" } ], "mass": 47996.0, "length": 421, "protein_name": "Testin", "gene_name": "TES", "organism": "Human", "refseq_name": "testin isoform 1", "refseq_ac": [ { "id": "NP_056456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456", "type": "external" } ], "gene_names_uniprotkb": "TES", "gene_names_refseq": "TESS-2; TESS; TES", "protein_names_uniprotkb": "Testin; TESS", "protein_names_refseq": "testin isoform 1; testis derived transcript (3 LIM domains)", "tax_id": 9606, "disease": "childhood acute lymphocytic leukemia (Disease Ontology:DOID:0080144); stomach cancer (Disease Ontology:DOID:10534); breast cancer (Disease Ontology:DOID:1612); endometrial carcinoma (Disease Ontology:DOID:2871); high grade glioma (Disease Ontology:DOID:3070); lung non-small cell carcinoma (Disease Ontology:DOID:3908); uterine corpus sarcoma (Disease Ontology:DOID:5165); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:26136)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "10950921;11237011;11420696;12571287;12695497;18083107;18158903;20068231;21278383;23145062;23301498;23481700;25645385;26154972;26375851;26992070;27600516;27846572;28228285;28832583;28834231;28904123;29242379;29314611;29393594;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30755730;30779550;30833945;31154438;31222486;31844290;31848261;32157095;32170669;32350084;32357974;32387766;32938616;32983136;33141586;33214551;33298915;33717175;33968037;33981976;34038160;34171305;34185709;34229054;35051231;35318648;35580925;36215666;36241641;36284347;37938771;38627776;38665916;40914422", "class_list": "", "function": "Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a common fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. This protein is a negative regulator of cell growth and may act as a tumor suppressor. This scaffold protein may also play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Multiple protein isoforms are encoded by transcript variants of this gene.[provided by RefSeq, Aug 2023]., [RefSeq]; Chitinase 3-Like 1, Nestin, and Testin Proteins as Novel Biomarkers of Potential Clinical Use in Colorectal Cancer: A Review. Review article, [RefSeq, PubMed]; Scaffold protein that may play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Plays a role in the regulation of cell proliferation. May act as a tumor suppressor. Inhibits tumor cell growth., [UniProtKB, PubMed, PubMed, PubMed]; Stress fiber strain recognition by the LIM protein testin is cryptic and mediated by RhoA., [RefSeq, PubMed]; TES-mediated upregulation of the transcription factor DDIT3 is involved in CFP suppression of breast cancer cell growth, [RefSeq, PubMed]; The value of lung function assessment and Testin expression detection in clinicopathological features and prognosis of NSCLC patients. 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, "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": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D0U6;Q9GZQ1;Q9HAJ9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0045296 cadherin binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0032991 protein-containing complex", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9UGI8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPC3-1", "uniprot_id": [ { "id": "CIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPC3", "type": "external" } ], "mass": 31544.0, "length": 277, "protein_name": "E3 ubiquitin-protein ligase CCNB1IP1", "gene_name": "CCNB1IP1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase CCNB1IP1", "refseq_ac": [ { "id": "NP_067001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067001", "type": "external" } ], "gene_names_uniprotkb": "CCNB1IP1; C14orf18; HEI10", "gene_names_refseq": "C14orf18; CCNB1IP1; HEI10", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase CCNB1IP1; 2.3.2.27; Cyclin-B1-interacting protein 1; Human enhancer of invasion 10; RING-type E3 ubiquitin transferase CCNB1IP1", "protein_names_refseq": "E3 ubiquitin-protein ligase CCNB1IP1; RING-type E3 ubiquitin transferase CCNB1IP1; cyclin B1 interacting protein 1, E3 ubiquitin protein ligase; epididymis secretory sperm binding protein; human enhancer of invasion 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:57820)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12612082;16532029;17297447;17322306;18767875;26992070;28904123;29485866;31844290;32938616;33981976;37461251", "class_list": "", "function": "CCNB1IP1 prevents ubiquitination-mediated destabilization of MYCN and potentiates tumourigenesis of MYCN-amplificated neuroblastoma., [RefSeq, PubMed]; HEI10 defines a divergent class of E3 ubiquitin ligase, functioning in progression through G(2)/M., [RefSeq, PubMed]; HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004]., [RefSeq]; The cyclin B-binding protein and cell cycle regulator HEI10 is identified as a novel merlin-binding partner; interaction with merlin affects HEI10 protein levels., [RefSeq, PubMed]; Ubiquitin E3 ligase that acts as a limiting factor for crossing-over during meiosis: required during zygonema to limit the colocalization of RNF212 with MutS-gamma-associated recombination sites and thereby establish early differentiation of crossover and non-crossover sites. Later, it is directed by MutL-gamma to stably accumulate at designated crossover sites. Probably promotes the dissociation of RNF212 and MutS-gamma to allow the progression of recombination and the implementation of the final steps of crossing over (By similarity). Modulates cyclin-B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis., [UniProtKB, PubMed, 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": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 3, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0000795 synaptonemal complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0007131 reciprocal meiotic recombination;GO:0051026 chiasma assembly", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9NPC3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L5N1-1", "uniprot_id": [ { "id": "CSN6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L5N1", "type": "external" } ], "mass": 36163.0, "length": 327, "protein_name": "COP9 signalosome complex subunit 6", "gene_name": "COPS6", "organism": "Human", "refseq_name": "COP9 signalosome complex subunit 6", "refseq_ac": [ { "id": "NP_006824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006824", "type": "external" } ], "gene_names_uniprotkb": "COPS6; CSN6; HVIP", "gene_names_refseq": "COPS6; CSN6; MOV34-34KD", "protein_names_uniprotkb": "COP9 signalosome complex subunit 6; JAB1-containing signalosome subunit 6; MOV34 homolog; SGN6; Signalosome subunit 6; Vpr-interacting protein; hVIP", "protein_names_refseq": "COP9 constitutive photomorphogenic homolog subunit 6; COP9 signalosome complex subunit 6; H_NH0506M12.12; JAB1-containing signalosome subunit 6; MOV34 homolog, 34 kD; SGN6; hVIP; vpr-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10980); (R-HSA-5696394); (R-HSA-6781823); (R-HSA-8856825); (R-HSA-8951664)", "pathway_count": 5, "publication_count": 333, "publication_id_list": "10097102;10391953;10436022;10513815;10535940;10567358;10597293;10613896;10769163;10811609;10878807;10944529;10973499;10983987;11069780;11071885;11076969;11237011;11247302;11259415;11279143;11285227;11292861;11292862;11337588;11454738;11454741;11585840;11588219;11733065;11904382;11919637;11927540;11961546;11988742;12042320;12086608;12101228;12186903;12208738;12220626;12221107;12234931;12237292;12429842;12451172;12464600;12504025;12504026;12526791;12538644;12609982;12628923;12660172;12682069;12717448;12732143;12759363;12815074;12816948;12944386;12944396;12958364;1317852;14662753;14690597;14726597;14742321;14757770;15134832;15282312;1535555;15361859;15367669;15473838;15537541;15572695;15574592;15601839;15652483;15671180;15688063;15694336;15728179;15799966;15811629;15882621;15964821;16159959;16171779;16223728;16401342;16459302;16460808;16473935;16516836;16547496;16647857;16678110;16707496;16723738;16751180;16790436;16903783;16943200;17081101;17132228;17183367;17220875;17267500;17290000;17332328;17360967;17456551;17497243;17522231;17713526;17785452;17882165;17981804;18032517;18093314;18166656;18199683;18206966;18614043;18775313;18775314;18776931;18805092;18819912;18826954;18850735;18851830;18926707;19109893;19140243;19250909;19321346;19609301;19617556;1968060;19696798;19732400;19748355;19853559;20068231;20231386;20351096;20855601;21070792;21102408;21135142;21388382;21447816;21463634;21625211;21778237;21863050;21940857;21995445;22118460;22118466;22306028;22357968;22466610;22466611;22466612;22466964;22484487;22537386;2257624;22902626;22942912;22959436;23045548;23095642;23201271;23301498;23319653;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24029068;24076655;24127601;24186068;24366543;24366607;24384571;24636985;24680432;24714562;24715725;24746795;24793695;24793696;25154395;25314029;25349211;25355947;25435140;25469497;25531226;25576301;25645385;25880248;25892735;26030138;26154972;26267535;26318036;26344709;26403691;26456823;26460955;26632597;26811146;26829388;26906416;26929215;26992070;27030794;27222660;27397612;27565346;27600516;27846572;27920218;28115426;28218747;28228285;28514659;28832583;28834231;28860189;28904123;2890644;29153394;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30484775;30610225;30779550;30833945;31020640;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32005965;32157095;32161166;32284348;32350084;32355176;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33101846;33123756;33179082;33298915;33444648;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;3417785;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36512632;37938771;38308184;40914422;7569928;7822302;8078911;8168482;8195203;8553074;8837779;8876179;9169477;9303539;9326587;9341143;9520381;9535219;9723620;9790970;9812899;9887101;9891082", "class_list": "", "function": "CSN6 Mediates Nucleotide Metabolism to Promote Tumor Development and Chemoresistance in Colorectal Cancer., [RefSeq, PubMed]; CSN6-SPOP-HMGCS1 Axis Promotes Hepatocellular Carcinoma Progression via YAP1 Activation., [RefSeq, PubMed]; CUL4A regulates endometrial cancer cell proliferation, invasion and migration by interacting with CSN6., [RefSeq, PubMed]; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Has some glucocorticoid receptor-responsive activity. Stabilizes COP1 through reducing COP1 auto-ubiquitination and decelerating COP1 turnover rate, hence regulates the ubiquitination of COP1 targets., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [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, "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": 0, "reported_glycation": 0, "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": "A4D2A3;O15387", "ec_number_list": [], "go_molecular_function": "GO:0008237 metallopeptidase 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:0045116 protein neddylation;GO:0000338 protein deneddylation;GO:2000434 regulation of protein neddylation", "synthesized_glycan_count": 0, "hit_score": 33.6, "record_id": "Q7L5N1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HA8-1", "uniprot_id": [ { "id": "NTAQ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HA8", "type": "external" } ], "mass": 23680.0, "length": 205, "protein_name": "Protein N-terminal glutamine amidohydrolase", "gene_name": "NTAQ1", "organism": "Human", "refseq_name": "protein N-terminal glutamine amidohydrolase isoform 2", "refseq_ac": [ { "id": "NP_001269953", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269953", "type": "external" } ], "gene_names_uniprotkb": "NTAQ1; C8orf32; WDYHV1", "gene_names_refseq": "C8orf32; NTAQ1; WDYHV1", "protein_names_uniprotkb": "Protein N-terminal glutamine amidohydrolase; 3.5.1.122; N-terminal Gln amidase; Nt(Q)-amidase; Protein NH2-terminal glutamine deamidase; WDYHV motif-containing protein 1", "protein_names_refseq": "N-terminal Gln amidase; WDYHV motif containing 1; WDYHV motif-containing protein 1; nt(Q)-amidase; protein N-terminal glutamine amidohydrolase isoform 2; protein N-terminal glutamine amidohydrolase; protein NH2-terminal glutamine deamidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:55093)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;25356641;26992070;28228285;30315122;30379171;30410026;31844290;32157095", "class_list": "", "function": "Mediates the side-chain deamidation of N-terminal glutamine residues to glutamate, an important step in N-end rule pathway of protein degradation. Conversion of the resulting N-terminal glutamine to glutamate renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. Does not act on substrates with internal or C-terminal glutamine and does not act on non-glutamine residues in any position. Does not deaminate acetylated N-terminal glutamine. With the exception of proline, all tested second-position residues on substrate peptides do not greatly influence the activity. In contrast, a proline at position 2, virtually abolishes deamidation of N-terminal glutamine., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The peptide backbone recognition patch of hNtaq1 forms nonspecific interactions with N-terminal peptides of substrate proteins 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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "B4DE68;Q9NW95", "ec_number_list": [ { "id": "3.5.1.122", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.122", "type": "external" } ], "go_molecular_function": "GO:0008418 protein-N-terminal asparagine amidohydrolase activity;GO:0070773 protein-N-terminal glutamine amidohydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0036211 protein modification process", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96HA8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15927-1", "uniprot_id": [ { "id": "RFA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P15927", "type": "external" } ], "mass": 29247.0, "length": 270, "protein_name": "Replication protein A 32 kDa subunit", "gene_name": "RPA2", "organism": "Human", "refseq_name": "replication protein A 32 kDa subunit isoform 2", "refseq_ac": [ { "id": "NP_001273005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273005", "type": "external" } ], "gene_names_uniprotkb": "RPA2; REPA2; RPA32; RPA34", "gene_names_refseq": "REPA2; RP-A p32; RP-A p34; RPA2; RPA32", "protein_names_uniprotkb": "Replication protein A 32 kDa subunit; RF-A protein 2; RP-A p32; RP-A p34; Replication factor A protein 2; Replication protein A 34 kDa subunit", "protein_names_refseq": "RF-A protein 2; replication factor A protein 2; replication protein A 32 kDa subunit isoform 2; replication protein A 32 kDa subunit; replication protein A 34 kDa subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:6118); (R-HSA-110312); (R-HSA-110314); (R-HSA-110320); (R-HSA-174437); (R-HSA-176187); (R-HSA-3371453); (R-HSA-3371511); (R-HSA-5358565); (R-HSA-5358606); (R-HSA-5651801); (R-HSA-5655862); (R-HSA-5656121); (R-HSA-5656169); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-5696395); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6783310); (R-HSA-6804756); (R-HSA-68962); (R-HSA-69166); (R-HSA-69473); (R-HSA-912446); (R-HSA-9709570)", "pathway_count": 31, "publication_count": 636, "publication_id_list": 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"class_list": "", "function": "As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP activates the ATR kinase a master regulator of the DNA damage response. It is required for the recruitment of the DNA double-strand break repair factors RAD51 and RAD52 to chromatin in response to DNA damage. Also recruits to sites of DNA damage proteins like XPA and XPG that are involved in nucleotide excision repair and is required for this mechanism of DNA repair. Also plays a role in base excision repair (BER) probably through interaction with UNG. Also recruits SMARCAL1/HARP, which is involved in replication fork restart, to sites of DNA damage. May also play a role in telomere maintenance. RPA stimulates 5'-3' helicase activity of BRIP1/FANCJ (PubMed:17596542)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Phosphorylation of the RPA2 subunit is observed after exposure of cells to ionizing radiation (IR) and other DNA-damaging agents, which implicates the modified protein in the regulation of DNA replication after DNA damage or in DNA repair., [RefSeq, PubMed]; This gene encodes a subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The RPA complex protects single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which oligonucleotide/oligosaccharide-binding (OB) domains of the complex are utilized, and differing in the length of DNA bound. This subunit contains a single OB domain that participates in high-affinity DNA binding and also contains a winged helix domain at its carboxy terminus, which interacts with many genome maintenance protein. Post-translational modifications of the RPA complex also plays a role in co-ordinating different damage response pathways. [provided by RefSeq, Sep 2017]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 26, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q52II0;Q5TEI9;Q5TEJ5", "ec_number_list": [], "go_molecular_function": "GO:0098505 G-rich strand telomeric DNA binding;GO:0019899 enzyme binding;GO:0003684 damaged DNA binding;GO:0031625 ubiquitin protein ligase binding;GO:0042162 telomeric DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0016605 PML body;GO:0000785 chromatin", "go_biological_process": "GO:2000001 regulation of DNA damage checkpoint;GO:0006284 base-excision repair;GO:0000723 telomere maintenance;GO:0006260 DNA replication;GO:0006298 mismatch repair", "synthesized_glycan_count": 0, "hit_score": 64.0, "record_id": "P15927-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50402-1", "uniprot_id": [ { "id": "EMD_HUMAN", "url": "https://www.uniprot.org/uniprot/P50402", "type": "external" } ], "mass": 28994.0, "length": 254, "protein_name": "Emerin", "gene_name": "EMD", "organism": "Human", "refseq_name": "emerin", "refseq_ac": [ { "id": "NP_000108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000108", "type": "external" } ], "gene_names_uniprotkb": "EMD; EDMD; STA", "gene_names_refseq": "CMD3C; EDMD; EMD; LEMD5; STA", "protein_names_uniprotkb": "Emerin", "protein_names_refseq": "LEM domain containing 5; emerin", "tax_id": 9606, "disease": "Arts syndrome (Disease Ontology:DOID:0050647); dilated cardiomyopathy 3C (Disease Ontology:DOID:0051073); X-linked Emery-Dreifuss muscular dystrophy 1 (Disease Ontology:DOID:0070246); anterior segment dysgenesis 4 (Disease Ontology:DOID:0080609); Axenfeld-Rieger syndrome type 1 (Disease Ontology:DOID:0110120); ring dermoid of cornea (Disease Ontology:DOID:0111548); Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726); dilated cardiomyopathy (Disease Ontology:DOID:12930); hypothyroidism (Disease Ontology:DOID:1459); Axenfeld-Rieger syndrome (Disease Ontology:DOID:14686); glaucoma (Disease Ontology:DOID:1686); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:2010); (R-HSA-2980766); (R-HSA-2995383); (R-HSA-4419969); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013408); (R-HSA-9013423); (R-HSA-9609523)", "pathway_count": 10, "publication_count": 466, "publication_id_list": "10.1101/2023.09.13.557529;10232922;10323252;10382909;10393813;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10652265;10699171;10699464;10847683;10873802;10908652;10958683;11007481;11058585;11085924;11145705;11149925;11237011;11285238;11373293;11396949;11431473;11432776;11435115;11470279;11584276;11587540;11672528;11689693;11704860;11707441;11756552;11773441;11784792;11792822;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11919634;11956649;11961559;11967128;12071859;12093360;12096337;12177196;12195014;12221096;12351724;12376551;12432077;12493765;12531887;12546821;12547822;12577064;12650940;12665586;12665801;12755701;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;15009215;15023524;15033976;15064355;15107133;15133129;15144186;15147912;15169870;15302923;15328537;15339924;15342493;15485661;15507211;15542837;15546916;15579468;15592455;15601624;15611138;15681850;15708368;15728722;15814684;15850391;15858067;15889145;15897194;16002401;16081809;16094384;16112081;16116428;16184169;16212419;16243035;16243036;16339170;16339967;16371512;16473593;16492808;16495336;16507994;16519628;1660188;16636067;16680152;16702231;16704422;16762923;16777091;16777452;16777849;16858403;16861033;16862148;16896804;16914516;16968698;16972941;17027967;17060455;17064668;17077126;17081983;17145773;17158099;17158234;17170708;17196961;17214551;17244649;17269730;17382883;17420445;17583407;17599059;17698854;17702745;17765681;17785515;17804252;17916560;17976533;18006505;18045877;18056264;18191593;18218625;18220336;18249095;18266676;18347018;18396277;18426980;18477612;18491316;18628300;18653540;18662984;18669648;18691976;18694939;18697831;18707149;18838382;19167377;19269969;19323649;19494125;19494126;19494238;19534724;19581409;19605563;19620630;19651622;19673492;19690332;19691289;19713215;19789182;19934221;20068231;20166139;20230923;20375064;20400958;20460433;20576617;20676083;20679435;20711181;20810653;20876142;21081492;21148482;21151158;21378159;21413788;21444755;21466504;21542010;21565175;21610090;21613211;21621533;21636303;21730051;21743475;21795390;21865595;2188730;2188731;21989057;22004470;22096251;22134922;22223895;22298643;22407364;22475431;22608513;22665057;22734669;22770216;22970203;22986494;23041287;23087206;23096567;23129660;23142665;23186163;23209303;23246001;23255595;23288169;23434736;2344612;23481700;23533635;23572525;23707487;23718289;23757206;23870057;23940355;24014020;24086303;24102721;24259668;24275569;24335996;24352656;24392163;24623723;24659802;24714562;24859002;24933155;24960694;24997722;25024229;25179605;25211221;25415308;25428919;25535373;25704760;25713138;25721503;25746724;25795300;25810538;25862245;25880248;25892735;26016997;26129894;26154972;26375851;26529257;26628301;26675233;26728094;26887924;26992070;27117132;27145964;27193484;27216196;27226539;27458190;27481945;27543614;27555588;27566826;27713499;27806292;27846572;27852748;27875273;28104892;28114311;28196833;28356423;28486133;28514659;28832583;28834231;28904123;28947137;29089502;29237092;29242231;29242379;29314611;29331515;29351928;29358323;29382922;29393594;29493099;29508533;29557506;29632711;29684168;29769354;29776664;29786170;30059200;30429286;30484775;30620550;30779550;30853411;31154438;31185657;31217245;31389670;31492838;31844290;31848261;31871319;32119511;32157095;32161166;32162841;32203420;32357974;32488085;32549231;32755394;32923640;32938616;32983136;33141586;33214551;33298915;33691108;33717175;33912179;33968037;34019948;34171305;34561969;34725712;35051231;35132862;35254053;35289036;35318648;35513511;35580925;35705054;36010968;36241641;36284347;37340703;37541260;37938771;38665916;39218980;39302247;39531497;39534244;40065010;40307207;40596516;40914422;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7894480;7937898;8021274;8034666;8107774;8463284;8537347;8543060;8595407;8643598;8645157;8655156;8662891;8733135;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8945468;8990121;8994827;9013646;9099726;9113980;9252344;9305890;9438849;9465049;9472006;9490638;9497316;9582072;9659915;9670022;9673989;9705280;9792683;9822598;9822605;9843499;9988689", "class_list": "", "function": "Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Emerin mislocalization during chromatin bridge resolution can drive prostate cancer cell invasiveness in a collagen-rich microenvironment., [RefSeq, PubMed]; Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments (PubMed:15328537). Inhibits beta-catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1-dependent export pathway (PubMed:16858403). Links centrosomes to the nuclear envelope via a microtubule association (PubMed:17785515). Required for proper localization of non-farnesylated prelamin-A/C (PubMed:19323649). Together with NEMP1, contributes to nuclear envelope stiffness in germ cells (PubMed:32923640). EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 1, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 43, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 12, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "Q6FI02", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0045296 cadherin binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005819 spindle", "go_biological_process": "GO:0006936 muscle contraction;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:1990000 amyloid fibril formation;GO:0046827 positive regulation of protein export from nucleus;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 48.4, "record_id": "P50402-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13643-1", "uniprot_id": [ { "id": "FHL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13643", "type": "external" } ], "mass": 31192.0, "length": 280, "protein_name": "Four and a half LIM domains protein 3", "gene_name": "FHL3", "organism": "Human", "refseq_name": "four and a half LIM domains protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001230807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230807", "type": "external" } ], "gene_names_uniprotkb": "FHL3; SLIM2", "gene_names_refseq": "FHL3; SLIM2", "protein_names_uniprotkb": "Four and a half LIM domains protein 3; FHL-3; SLIM-2; Skeletal muscle LIM-protein 2", "protein_names_refseq": "FHL-3; LIM-only protein FHL3; SLIM-2; four and a half LIM domains protein 3 isoform 2; four and a half LIM domains protein 3; skeletal muscle LIM-protein 2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); myelomeningocele (Disease Ontology:DOID:0060326); glucose transporter type 1 deficiency syndrome (Disease Ontology:DOID:0070560); glucose transporter type 1 deficiency syndrome 1 (Disease Ontology:DOID:0070561); dystonia 9 (Disease Ontology:DOID:0090044); glucose transporter type 1 deficiency syndrome 2 (Disease Ontology:DOID:0090045); Hirschsprung's disease (Disease Ontology:DOID:10487); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); hypothyroidism (Disease Ontology:DOID:1459); childhood absence epilepsy (Disease Ontology:DOID:1825); nephroblastoma (Disease Ontology:DOID:2154); hemangioma (Disease Ontology:DOID:255); middle cerebral artery infarction (Disease Ontology:DOID:3525); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2275)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10049693;26992070;29437277;29485866;29557506;30315122;30379171;30410026;31844290;32157095;32897882;33123756;33912179;35051231;35249471;35318648;38665916;8753811", "class_list": "", "function": "Recruited by SOX15 to FOXK1 promoters where it acts as a transcriptional coactivator of FOXK1., [UniProtKB, UniProtKB]; The protein encoded by this gene is a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; Upregulation of FHL1, SPNS3, and MPZL2 predicts poor prognosis in pediatric acute myeloid leukemia patients with FLT3-ITD mutation., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 18, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DPT6;Q6I9T0;Q9BVA2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008270 zinc ion binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005925 focal adhesion;GO:0001725 stress fiber;GO:0030018 Z disc", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030036 actin cytoskeleton organization;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q13643-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92569-1", "uniprot_id": [ { "id": "P55G_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92569", "type": "external" } ], "mass": 54448.0, "length": 461, "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit gamma", "gene_name": "PIK3R3", "organism": "Human", "refseq_name": "phosphatidylinositol 3-kinase regulatory subunit gamma isoform 1", "refseq_ac": [ { "id": "NP_001107644", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107644", "type": "external" } ], "gene_names_uniprotkb": "PIK3R3", "gene_names_refseq": "PIK3R3; p55-GAMMA; p55PIK; p55", "protein_names_uniprotkb": "Phosphatidylinositol 3-kinase regulatory subunit gamma; PI3-kinase regulatory subunit gamma; PI3-kinase subunit p55-gamma; PI3K regulatory subunit gamma; Phosphatidylinositol 3-kinase 55 kDa regulatory subunit gamma; PtdIns-3-kinase regulatory subunit gamma; PtdIns-3-kinase regulatory subunit p55-gamma; p55PIK", "protein_names_refseq": "PI3-kinase regulatory subunit gamma; PI3-kinase subunit p55-gamma; PI3K regulatory subunit gamma; phosphatidylinositol 3-kinase 55 kDa regulatory subunit gamma; phosphatidylinositol 3-kinase regulatory subunit gamma isoform 1; phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 3 (p55, gamma); phosphoinositide-3-kinase, regulatory subunit 3 (gamma); ptdIns-3-kinase regulatory subunit p55-gamma", "tax_id": 9606, "disease": "colon adenocarcinoma (Disease Ontology:DOID:234); high grade glioma (Disease Ontology:DOID:3070); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:8503); (R-HSA-114604); (R-HSA-1257604); (R-HSA-1266695); (R-HSA-1433557); (R-HSA-1660499); (R-HSA-2219530); (R-HSA-389357); (R-HSA-416476); (R-HSA-512988); (R-HSA-6811558); (R-HSA-8853659); (R-HSA-9009391); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-912526); (R-HSA-912631); (R-HSA-9670439); (R-HSA-9927354)", "pathway_count": 19, "publication_count": 714, "publication_id_list": 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"class_list": "", "function": "Binds to activated (phosphorylated) protein-tyrosine kinases through its SH2 domain and regulates their kinase activity. During insulin stimulation, it also binds to IRS-1., [UniProtKB]; Circ_0044235 regulates the development of osteoarthritis by the modulation of miR-375/PIK3R3 axis. Publication Status: Online-Only, [RefSeq, PubMed]; P55gamma degrades RIP3 via MG53 to suppress ischaemia-induced myocardial necroptosis and mediates cardioprotection of preconditioning., [RefSeq, PubMed]; PIK3R3 is upregulated in liver cancer and activates Akt signaling to control cancer growth by regulation of CDKN1C and SMC1A., [RefSeq, PubMed]; Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]., [RefSeq]; VHL governs m6A modification and PIK3R3 mRNA stability in clear cell renal cell carcinomas. 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, "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": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R9C1;D3DQ12;O60482;Q5T4P1;Q5T4P2", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0046935 1-phosphatidylinositol-3-kinase regulator activity;GO:0016303 1-phosphatidylinositol-3-kinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005943 phosphatidylinositol 3-kinase complex, class IA", "go_biological_process": "GO:0006955 immune response;GO:0010628 positive regulation of gene expression;GO:0030335 positive regulation of cell migration;GO:0030183 B cell differentiation;GO:0008286 insulin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 71.7, "record_id": "Q92569-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53041-1", "uniprot_id": [ { "id": "PPP5_HUMAN", "url": "https://www.uniprot.org/uniprot/P53041", "type": "external" } ], "mass": 56879.0, "length": 499, "protein_name": "Serine/threonine-protein phosphatase 5", "gene_name": "PPP5C", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 5 isoform 1", "refseq_ac": [ { "id": "NP_006238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006238", "type": "external" } ], "gene_names_uniprotkb": "PPP5C; PPP5", "gene_names_refseq": "PP5; PPP5C; PPP5; PPT", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 5; 3.1.3.16; PP-T; PP5; PPT; Protein phosphatase T", "protein_names_refseq": "PP-T; protein phosphatase T; serine/threonine-protein phosphatase 5 isoform 1; serine/threonine-protein phosphatase 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:5536); (R-HSA-5675221); (R-HSA-5693565); (R-HSA-8939211)", "pathway_count": 4, "publication_count": 233, "publication_id_list": "10206983;10207098;10415025;10485477;10490027;10550055;10588810;10702794;10724175;10757792;10766245;10802669;10822011;10866324;10959836;10973490;11025670;11114888;11150164;11162936;11237011;11250728;11390408;11478682;11571274;11573085;11795466;11893489;11927591;11934988;12118371;12364621;12447390;12485996;12583813;12607003;12607005;12672240;12697768;12773400;12792649;12832489;12890688;12943986;14560035;14605097;14724641;14734805;14764652;14871926;15064416;15094156;15155720;15201865;15279782;15383005;15546861;15577939;15664191;15851477;16150728;16260606;16377563;16427009;16531226;16651405;16790549;16809759;16892053;17097642;1720327;1730655;17525332;17525340;17553757;17615152;17724343;17848578;17873880;18001824;18001825;18006705;18077395;18294816;18332145;18443292;18451092;18515281;18547165;18644861;19001859;19091743;19092802;19117993;19158341;19176521;19203578;19203579;19234442;19261749;19274700;19351884;19601647;19608861;19782031;19948726;20016603;20023648;20332238;20351172;20353944;20379036;21144835;21282113;21293379;21779496;22234877;22299025;22373579;22393957;22399290;22508508;22589545;22730326;22781750;22908299;22980979;23102700;23105109;23301498;23375374;23403292;23481700;23684889;23719902;23850489;24071518;24288332;24667604;24714562;25303530;25314968;25500870;25597358;25597633;25645385;26153859;26610607;26992070;27353360;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29127155;29141220;29242379;29314611;29557506;29632046;29786170;30315122;30379171;30410026;30524438;30699359;30826056;31020640;3167974;31844290;32157095;32350084;32357974;32387766;32488085;32703456;32897882;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34357683;34509645;34725712;34932366;35051231;35138101;35154160;35251023;35561310;35580925;36010968;36241641;36284347;38665916;6201744;7689695;7784095;7892243;7906860;7925273;7984152;8180109;8221895;8232319;8327492;8561788;8641283;8666404;8944023;9000529;9048584;9115298;9168116;9183567;9295332;9346945;9405394;9482716;9488723;9707442;9817749", "class_list": "", "function": "Over-expression of human PP5 gene in mice induces corneal hyperplasia and leads to ocular surface squamous neoplasia., [RefSeq, PubMed]; Serine/threonine-protein phosphatase that dephosphorylates a myriad of proteins involved in different signaling pathways including the kinases CSNK1E, ASK1/MAP3K5, PRKDC and RAF1, the nuclear receptors NR3C1, PPARG, ESR1 and ESR2, SMAD proteins and TAU/MAPT (PubMed:14734805, PubMed:14764652, PubMed:14871926, PubMed:15383005, PubMed:15546861, PubMed:16260606, PubMed:16790549, PubMed:16892053, PubMed:19176521, PubMed:19948726, PubMed:21144835, PubMed:22399290, PubMed:22781750, PubMed:23102700, PubMed:30699359, PubMed:9000529). Implicated in wide ranging cellular processes, including apoptosis, differentiation, DNA damage response, cell survival, regulation of ion channels or circadian rhythms, in response to steroid and thyroid hormones, calcium, fatty acids, TGF-beta as well as oxidative and genotoxic stresses (PubMed:14734805, PubMed:14764652, PubMed:14871926, PubMed:15383005, PubMed:15546861, PubMed:16260606, PubMed:16790549, PubMed:16892053, PubMed:19176521, PubMed:19948726, PubMed:21144835, PubMed:22399290, PubMed:22781750, PubMed:23102700, PubMed:30699359, PubMed:9000529). Participates in the control of DNA damage response mechanisms such as checkpoint activation and DNA damage repair through, for instance, the regulation ATM/ATR-signaling and dephosphorylation of PRKDC and TP53BP1 (PubMed:14871926, PubMed:16260606, PubMed:21144835). Inhibits ASK1/MAP3K5-mediated apoptosis induced by oxidative stress (PubMed:23102700). Plays a positive role in adipogenesis, mainly through the dephosphorylation and activation of PPARG transactivation function (By similarity). Also dephosphorylates and inhibits the anti-adipogenic effect of NR3C1 (By similarity). Regulates the circadian rhythms, through the dephosphorylation and activation of CSNK1E (PubMed:16790549). May modulate TGF-beta signaling pathway by the regulation of SMAD3 phosphorylation and protein expression levels (PubMed:22781750). Dephosphorylates and may play a role in the regulation of TAU/MAPT (PubMed:15546861). Through their dephosphorylation, may play a role in the regulation of ions channels such as KCNH2 (By similarity). Dephosphorylate FNIP1, disrupting interaction with HSP90AA1/Hsp90 (PubMed:30699359)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The role of the catalytic Mn(2+) ions in regulating the binding of PP5 with its substrate was investigated through MD simulations. Results reveal that the different states of Mn(2+) ions can alter the structure of the active site and the conformations of the residues coordinating the Mn(2+) ions or the substrate., [RefSeq, PubMed]; This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]., [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": 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": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 6, "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": "Q16722;Q53XV2", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.357", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "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.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0043204 perikaryon", "go_biological_process": "GO:1904550 response to arachidonate;GO:0000278 mitotic cell cycle;GO:0006351 DNA-templated transcription;GO:0010288 response to lead ion;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 23.6, "record_id": "P53041-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JUK2-1", "uniprot_id": [ { "id": "SOLH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JUK2", "type": "external" } ], "mass": 34526.0, "length": 328, "protein_name": "Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1", "gene_name": "SOHLH1", "organism": "Human", "refseq_name": "spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform b", "refseq_ac": [ { "id": "NP_001012415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012415", "type": "external" } ], "gene_names_uniprotkb": "SOHLH1; C9orf157; NOHLH; TEB2", "gene_names_refseq": "C9orf157; NOHLH; ODG5; SOHLH1; SPATA27; SPGF32; TEB2; bA100C15.3; bHLHe80", "protein_names_uniprotkb": "Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1", "protein_names_refseq": "newborn ovary helix loop helix; spermatogenesis associated 27; spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform b; spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1", "tax_id": 9606, "disease": "ovarian dysgenesis 5 (Disease Ontology:DOID:0080497); spermatogenic failure 32 (Disease Ontology:DOID:0111925)", "pathway": " (hsa:402381)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;16564520;16690745;20506135;25774885;28718531;29240260;33236849;33691108;34448846;35051231;38448741", "class_list": "", "function": "Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis., [RefSeq, PubMed]; Findings indicate that a splice-acceptor site mutation that probably causes a nonfunctional SOHLH1 protein results in nonobstructive azoospermia by the lack of normal spermatogenesis. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; In glioblastoma (GBM) cell lines, cellular proliferation, migration, and invasion were significantly enhanced after Spermatogenesis- and oogenesis- specific basic helix-loop-helix transcription factor1 (Sohlh1) knockdown, but significantly inhibited after Sohlh1 overexpression., [RefSeq, PubMed]; Sohlh1 and Lhx8 are two germ cell-specific, critical regulators of oogenesis, [RefSeq, PubMed]; Stimulated by retinoic acid gene 8 (STRA8) interacts with the germ cell specific bHLH factor SOHLH1 and represses c-KIT expression in vitro., [RefSeq, PubMed]; The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition., [RefSeq, PubMed]; This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]., [RefSeq]; Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "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": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JG81;Q5EE14;Q5EGC2;Q8NEE3", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0000976 transcription cis-regulatory region binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0009994 oocyte differentiation;GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q5JUK2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13515-1", "uniprot_id": [ { "id": "BFSP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13515", "type": "external" } ], "mass": 45880.0, "length": 415, "protein_name": "Phakinin", "gene_name": "BFSP2", "organism": "Human", "refseq_name": "phakinin", "refseq_ac": [ { "id": "NP_003562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003562", "type": "external" } ], "gene_names_uniprotkb": "BFSP2", "gene_names_refseq": "BFSP2; CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN", "protein_names_uniprotkb": "Phakinin; 49 kDa cytoskeletal protein; Beaded filament structural protein 2; CP47; CP49; LIFL-L; Lens fiber cell beaded filament protein CP 47; Lens fiber cell beaded filament protein CP 49; Lens intermediate filament-like light", "protein_names_refseq": "49 kDa cytoskeletal protein; beaded filament protein CP49; beaded filament structural protein 2, phakinin; bfps2, Cytoskeletal protein, 49-kD; lens fiber cell beaded filament protein CP 47; lens fiber cell beaded filament protein CP 49; lens intermediate filament-like light; phakinin", "tax_id": 9606, "disease": "cataract 12 multiple types (Disease Ontology:DOID:0110239); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:8419)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10729115;10739768;15570218;17200662;17982427;24714562;26375851;28832583;28839118;28904123;28935373;29914532;30379171;31844290;35051231;8636093", "class_list": "", "function": "More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]., [RefSeq]; Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Plays a role in maintenance of retinal lens optical clarity (By similarity)., [UniProtKB, UniProtKB, 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "Q14D32;Q9HBW5", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005212 structural constituent of eye lens", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0005882 intermediate filament", "go_biological_process": "GO:0007601 visual perception;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q13515-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60981-1", "uniprot_id": [ { "id": "DEST_HUMAN", "url": "https://www.uniprot.org/uniprot/P60981", "type": "external" } ], "mass": 18506.0, "length": 165, "protein_name": "Destrin", "gene_name": "DSTN", "organism": "Human", "refseq_name": "destrin isoform b", "refseq_ac": [ { "id": "NP_001011546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011546", "type": "external" } ], "gene_names_uniprotkb": "DSTN; ACTDP; DSN", "gene_names_refseq": "ACTDP; ADF; DSTN; HEL32; bA462D18.2", "protein_names_uniprotkb": "Destrin; ADF; Actin-depolymerizing factor", "protein_names_refseq": "actin-depolymerizing factor; bA462D18.2 (destrin (actin depolymerizing factor ADF) (ACTDP)); destrin isoform b; epididymis luminal protein 32; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); nemaline myopathy 7 (Disease Ontology:DOID:0110934); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:11034)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "11237011;11418599;11812157;12665801;15300782;15660133;16815975;16959974;17081983;19369195;19413330;19608861;19651622;20068231;21406692;22223895;23153585;23186163;23301498;25576301;25645385;26375851;26992070;27452731;27600516;27862975;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29786170;30315122;30379171;31154438;31217245;31844290;31848261;31998317;32161166;32488085;32870666;32938616;33141586;33214551;33592498;33968037;33981976;34019948;34087483;34169836;34171305;34357683;34559579;34725712;35051231;35580925;36010968;36241641;36284347;37019366;37217939;37938771;38665916;7615564;8399167", "class_list": "", "function": "ADF and cofilin-1 collaborate to promote cortical actin flow and the leader bleb-based migration of confined cells. Publication Status: Online-Only, [RefSeq, PubMed]; Actin-depolymerizing protein. Severs actin filaments (F-actin) and binds to actin monomers (G-actin). Acts in a pH-independent manner., [UniProtKB, PubMed]; DSTN Hypomethylation Promotes Radiotherapy Resistance of Rectal Cancer by Activating the Wnt/beta-Catenin Signaling Pathway., [RefSeq, PubMed]; The actin depolymerizing factor destrin serves as a negative feedback inhibitor of smooth muscle cell differentiation., [RefSeq, PubMed]; The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [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, "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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6N2;B4DYA6;P18282;Q5W166;Q6IAW2", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0003779 actin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome;GO:0098794 postsynapse", "go_biological_process": "GO:0008154 actin polymerization or depolymerization;GO:0051014 actin filament severing;GO:0030042 actin filament depolymerization;GO:0030043 actin filament fragmentation", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "P60981-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13612-1", "uniprot_id": [ { "id": "ITA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P13612", "type": "external" } ], "mass": 114900.0, "length": 1032, "protein_name": "Integrin alpha-4", "gene_name": "ITGA4", "organism": "Human", "refseq_name": "integrin alpha-4 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_000876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000876", "type": "external" } ], "gene_names_uniprotkb": "ITGA4; CD49D", "gene_names_refseq": "CD49D; IA4; ITGA4", "protein_names_uniprotkb": "Integrin alpha-4; CD49 antigen-like family member D; Integrin alpha-IV; VLA-4 subunit alpha", "protein_names_refseq": "269C wild type; CD49 antigen-like family member D; VLA-4 subunit alpha; alpha 4 subunit of VLA-4 receptor; antigen CD49D, alpha-4 subunit of VLA-4 receptor; integrin alpha-4 isoform 1 preproprotein; integrin alpha-IV; very late activation protein 4 receptor, alpha 4 subunit", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); intellectual disability (Disease Ontology:DOID:1059); pre-eclampsia (Disease Ontology:DOID:10591); nephritis (Disease Ontology:DOID:10952); pancreatic cancer (Disease Ontology:DOID:1793); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); pneumonia (Disease Ontology:DOID:552); diabetic retinopathy (Disease Ontology:DOID:8947)", "pathway": " (hsa:3676); (R-HSA-198933); (R-HSA-202733); (R-HSA-216083); (R-HSA-8949275); (R-HSA-9679191)", "pathway_count": 6, "publication_count": 335, "publication_id_list": "10.1101/2023.09.13.557529;10087012;10209034;10366422;10438935;10499918;10543983;10593924;10604475;10605720;10606205;10640428;10673366;10713152;10746781;10764623;10811134;10982388;11158588;11207550;11237011;11256994;11265639;11489943;11513152;11518510;11533025;11556966;11564780;11572855;11713259;11779189;11807247;11812992;11857637;11858820;11861603;11955593;11955595;11955599;11980922;12070135;12208882;12213321;12469115;12483297;12496264;12585966;12588680;12682293;12782713;12807887;12855590;14529530;14615387;14719373;14970179;15000751;15034010;15136729;15155468;15187158;15240572;15304001;15330449;15345499;15383545;15466886;1551405;15528364;15534202;15541655;15580655;15607800;15681301;15713743;15721307;15778510;15781451;15800062;15851719;15864273;1588291;15899827;1591491;16002701;16014749;16051604;16091383;16115318;16129954;16164020;16239428;16258728;16297198;16339513;16380601;16522641;16551255;16585556;16691243;16731529;16737824;16737840;16754661;16754721;16783819;16893496;16904340;16928187;16933105;17045824;17057721;17064312;17099249;17116209;17158232;17167768;17172599;17237375;1730718;17322099;17337780;17339034;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;17662961;17697703;17968485;18031695;18037897;18055229;18209062;18234675;18578522;18593354;18635536;18707149;18710925;18775695;19064666;19149696;19279206;19349973;19359216;19502598;19592130;19690332;20033473;2010551;20166139;20223979;2034655;20705068;20730098;21193412;21241660;21659548;21800138;21841309;21877119;22396535;22401777;22539938;22552008;22814904;22884367;23125415;23374253;23481700;23641311;23695528;23719902;23929856;23945545;24043627;24190977;24272870;24275569;24305946;24584101;24714562;24715725;24764293;2538457;25398877;25418920;25502872;25576301;25645385;25703557;25716998;25801024;25892735;26002965;26004068;26154972;26284469;26300885;26375851;26414766;26728094;26811146;26929215;26992070;27600516;27846572;27862975;2788572;27893789;27920218;28063628;28159928;28218747;28228285;28425720;28467828;28649982;28832583;28834231;28871256;28904123;29242379;29314611;29393594;29437277;29493099;29557506;29632046;29769354;29945920;30201761;30315122;3033641;30410026;30429286;30524438;30573663;30626607;31020640;31048504;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;34357683;34433824;34509645;34932366;35051231;35154160;35561310;35580925;35802072;36010968;36284347;36581221;37074911;37330909;37938771;38154529;38311553;40307207;40914422;468991;7505120;7509040;7521878;7525578;7531291;7541634;7542249;7542404;7559467;7685013;8118028;8163559;8166770;8178173;8314844;8344274;8560266;8643114;8798654;8838667;8910476;8995416;9052782;9169774;9242610;9251239;9285412;9295288;9314561;9382878;9443892;9488735;9565552;9693095;9700512;9730896;9763524;9858236", "class_list": "", "function": "Cancer-Associated Fibroblast Induces Acinar-to-Ductal Cell Transdifferentiation and Pancreatic Cancer Initiation Via LAMA5/ITGA4 Axis., [RefSeq, PubMed]; Integrins alpha-4/beta-1 (VLA-4) and alpha-4/beta-7 are receptors for fibronectin. They recognize one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. They are also receptors for VCAM1. Integrin alpha-4/beta-1 recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha-4/beta-7 is also a receptor for MADCAM1. It recognizes the sequence L-D-T in MADCAM1. On activated endothelial cells integrin VLA-4 triggers homotypic aggregation for most VLA-4-positive leukocyte cell lines. It may also participate in cytolytic T-cell interactions with target cells. ITGA4:ITGB1 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGA4:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). Integrin ITGA4:ITGB1 represses PRKCA-mediated L-type voltage-gated channel Ca(2+) influx and ROCK-mediated calcium sensitivity in vascular smooth muscle cells via its interaction with SVEP1, thereby inhibiting vasocontraction (PubMed:35802072)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; LRP12 is an endogenous transmembrane inactivator of alpha4 integrins., [RefSeq, PubMed]; The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]., [RefSeq]; [Association of ITGA4 and ICAM-1 gene polymorphisms with the risk and clinicopathological characteristics of Crohn's disease]., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "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": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 69, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 27, "disease_count": 8, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "D3DPG4;Q7Z4L6", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0015026 coreceptor activity;GO:0046872 metal ion binding;GO:0050839 cell adhesion molecule binding;GO:1990405 protein antigen binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane;GO:0030426 growth cone", "go_biological_process": "GO:1905564 positive regulation of vascular endothelial cell proliferation;GO:1903238 positive regulation of leukocyte tethering or rolling;GO:0007229 integrin-mediated signaling pathway;GO:1904646 cellular response to amyloid-beta;GO:2000406 positive regulation of T cell migration", "synthesized_glycan_count": 0, "hit_score": 37.4, "record_id": "P13612-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42345-1", "uniprot_id": [ { "id": "MTOR_HUMAN", "url": "https://www.uniprot.org/uniprot/P42345", "type": "external" } ], "mass": 288892.0, "length": 2549, "protein_name": "Serine/threonine-protein kinase mTOR", "gene_name": "MTOR", "organism": "Human", "refseq_name": "serine/threonine-protein kinase mTOR isoform 1", "refseq_ac": [ { "id": "NP_004949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004949", "type": "external" } ], "gene_names_uniprotkb": "MTOR; FRAP1; FRAP2; FRAP; RAFT1; RAPT1", "gene_names_refseq": "FRAP1; FRAP2; FRAP; MTOR; RAFT1; RAPT1; SKS", "protein_names_uniprotkb": "Serine/threonine-protein kinase mTOR; 2.7.10.2; 2.7.11.1; FK506-binding protein 12-rapamycin complex-associated protein 1; FKBP12-rapamycin complex-associated protein; Mammalian target of rapamycin; Mechanistic target of rapamycin; Rapamycin and FKBP12 target 1; Rapamycin target protein 1; Tyrosine-protein kinase mTOR; mTOR", "protein_names_refseq": "FK506 binding protein 12-rapamycin associated protein 2; FK506-binding protein 12-rapamycin complex-associated protein 1; FKBP-rapamycin associated protein; FKBP12-rapamycin complex-associated protein 1; mammalian target of rapamycin; mechanistic target of rapamycin (serine/threonine kinase); rapamycin and FKBP12 target 1; rapamycin associated protein FRAP2; rapamycin target protein 1; serine/threonine-protein kinase mTOR isoform 1; serine/threonine-protein kinase mTOR; tyrosine-protein kinase mTOR", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); polycystic kidney disease (Disease Ontology:DOID:0080322); cone-rod dystrophy 24 (Disease Ontology:DOID:0081449); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); immunodeficiency 13 (Disease Ontology:DOID:0111987); prostate cancer (Disease Ontology:DOID:10283); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); crescentic glomerulonephritis (Disease Ontology:DOID:13139); interstitial cystitis (Disease Ontology:DOID:13949); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); colon cancer (Disease Ontology:DOID:219); transient cerebral ischemia (Disease Ontology:DOID:224); idiopathic interstitial pneumonia (Disease Ontology:DOID:2797); acute kidney failure (Disease Ontology:DOID:3021); high grade glioma (Disease Ontology:DOID:3070); temporal lobe epilepsy (Disease Ontology:DOID:3328); chondrosarcoma (Disease Ontology:DOID:3371); middle cerebral artery infarction (Disease Ontology:DOID:3525); renal cell carcinoma (Disease Ontology:DOID:4450); ureteral obstruction (Disease Ontology:DOID:5199); lung small cell carcinoma (Disease Ontology:DOID:5409); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); muscular atrophy (Disease Ontology:DOID:767); end stage renal disease (Disease Ontology:DOID:783); kidney angiomyolipoma (Disease Ontology:DOID:8411); vascular dementia (Disease Ontology:DOID:8725); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); isolated focal cortical dysplasia type II (MONDO:MONDO:0011818); macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MONDO:MONDO:0014716)", "pathway": " (hsa:2475); (R-HSA-1257604); (R-HSA-1632852); (R-HSA-165159); (R-HSA-166208); (R-HSA-3371571); (R-HSA-380972); (R-HSA-389357); (R-HSA-5218920); (R-HSA-5628897); (R-HSA-5674400); (R-HSA-6804757); (R-HSA-8943724); (R-HSA-9639288); (R-HSA-9856530); (R-HSA-9920951)", "pathway_count": 16, "publication_count": 947, "publication_id_list": 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"class_list": "", "function": "Assembly of mTORC3 Involves Binding of ETV7 to Two Separate Sequences in the mTOR Kinase Domain. Publication Status: Online-Only, [RefSeq, PubMed]; Brain insulin resistance in Down syndrome: Involvement of PI3K-Akt/mTOR axis in early-onset of Alzheimer's disease and its potential as a therapeutic target. Review article, [RefSeq, PubMed]; Homocysteine metabolites impair the PHF8/H4K20me1/mTOR/autophagy pathway by upregulating the expression of histone demethylase PHF8-targeting microRNAs in human vascular endothelial cells and mice., [RefSeq, PubMed]; Hypoxic glioma-derived exosomal miR-25-3p promotes macrophage M2 polarization by activating the PI3K-AKT-mTOR signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:12231510, PubMed:12718876, PubMed:14651849, PubMed:15268862, PubMed:15467718, PubMed:15545625, PubMed:15718470, PubMed:18497260, PubMed:18762023, PubMed:18925875, PubMed:20516213, PubMed:20537536, PubMed:21659604, PubMed:23429703, PubMed:23429704, PubMed:25799227, PubMed:26018084, PubMed:29150432, PubMed:29236692, PubMed:31112131, PubMed:31601708, PubMed:32561715, PubMed:34519269, PubMed:37751742). MTOR directly or indirectly regulates the phosphorylation of at least 800 proteins (PubMed:15268862, PubMed:15467718, PubMed:17517883, PubMed:18372248, PubMed:18497260, PubMed:18925875, PubMed:20516213, PubMed:21576368, PubMed:21659604, PubMed:23429704, PubMed:30171069, PubMed:29236692, PubMed:37751742). Functions as part of 2 structurally and functionally distinct signaling complexes mTORC1 and mTORC2 (mTOR complex 1 and 2) (PubMed:15268862, PubMed:15467718, PubMed:18497260, PubMed:18925875, PubMed:20516213, PubMed:21576368, PubMed:21659604, PubMed:23429704, PubMed:29424687, PubMed:29567957, PubMed:35926713). In response to nutrients, growth factors or amino acids, mTORC1 is recruited to the lysosome membrane and promotes protein, lipid and nucleotide synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:12231510, PubMed:12718876, PubMed:14651849, PubMed:15268862, PubMed:15467718, PubMed:15545625, PubMed:15718470, PubMed:18497260, PubMed:18762023, PubMed:18925875, PubMed:20516213, PubMed:20537536, PubMed:21659604, PubMed:23429703, PubMed:23429704, PubMed:25799227, PubMed:26018084, PubMed:29150432, PubMed:29236692, PubMed:31112131, PubMed:34519269). This includes phosphorylation of EIF4EBP1 and release of its inhibition toward the elongation initiation factor 4E (eiF4E) (PubMed:24403073, PubMed:29236692). Moreover, phosphorylates and activates RPS6KB1 and RPS6KB2 that promote protein synthesis by modulating the activity of their downstream targets including ribosomal protein S6, eukaryotic translation initiation factor EIF4B, and the inhibitor of translation initiation PDCD4 (PubMed:12087098, PubMed:12150925, PubMed:18925875, PubMed:29150432, PubMed:29236692). Stimulates the pyrimidine biosynthesis pathway, both by acute regulation through RPS6KB1-mediated phosphorylation of the biosynthetic enzyme CAD, and delayed regulation, through transcriptional enhancement of the pentose phosphate pathway which produces 5-phosphoribosyl-1-pyrophosphate (PRPP), an allosteric activator of CAD at a later step in synthesis, this function is dependent on the mTORC1 complex (PubMed:23429703, PubMed:23429704). Regulates ribosome synthesis by activating RNA polymerase III-dependent transcription through phosphorylation and inhibition of MAF1 an RNA polymerase III-repressor (PubMed:20516213). Activates dormant ribosomes by mediating phosphorylation of SERBP1, leading to SERBP1 inactivation and reactivation of translation (PubMed:36691768). In parallel to protein synthesis, also regulates lipid synthesis through SREBF1/SREBP1 and LPIN1 (PubMed:23426360). To maintain energy homeostasis mTORC1 may also regulate mitochondrial biogenesis through regulation of PPARGC1A (By similarity). In the same time, mTORC1 inhibits catabolic pathways: negatively regulates autophagy through phosphorylation of ULK1 (PubMed:32561715). Under nutrient sufficiency, phosphorylates ULK1 at 'Ser-758', disrupting the interaction with AMPK and preventing activation of ULK1 (PubMed:32561715). Also prevents autophagy through phosphorylation of the autophagy inhibitor DAP (PubMed:20537536). Also prevents autophagy by phosphorylating RUBCNL/Pacer under nutrient-rich conditions (PubMed:30704899). Prevents autophagy by mediating phosphorylation of AMBRA1, thereby inhibiting AMBRA1 ability to mediate ubiquitination of ULK1 and interaction between AMBRA1 and PPP2CA (PubMed:23524951, PubMed:25438055). mTORC1 exerts a feedback control on upstream growth factor signaling that includes phosphorylation and activation of GRB10 a INSR-dependent signaling suppressor (PubMed:21659604). Among other potential targets mTORC1 may phosphorylate CLIP1 and regulate microtubules (PubMed:12231510). The mTORC1 complex is inhibited in response to starvation and amino acid depletion (PubMed:12150925, PubMed:12150926, PubMed:24403073, PubMed:31695197). The non-canonical mTORC1 complex, which acts independently of RHEB, specifically mediates phosphorylation of MiT/TFE factors MITF, TFEB and TFE3 in the presence of nutrients, promoting their cytosolic retention and inactivation (PubMed:22343943, PubMed:22576015, PubMed:22692423, PubMed:24448649, PubMed:32612235, PubMed:36608670, PubMed:36697823). Upon starvation or lysosomal stress, inhibition of mTORC1 induces dephosphorylation and nuclear translocation of TFEB and TFE3, promoting their transcription factor activity (PubMed:22343943, PubMed:22576015, PubMed:22692423, PubMed:24448649, PubMed:32612235, PubMed:36608670). The mTORC1 complex regulates pyroptosis in macrophages by promoting GSDMD oligomerization (PubMed:34289345). MTOR phosphorylates RPTOR which in turn inhibits mTORC1 (By similarity). As part of the mTORC2 complex, MTOR transduces signals from growth factors to pathways involved in proliferation, cytoskeletal organization, lipogenesis and anabolic output (PubMed:15268862, PubMed:15467718, PubMed:24670654, PubMed:29424687, PubMed:29567957, PubMed:35926713). In response to growth factors, mTORC2 phosphorylates and activates AGC protein kinase family members, including AKT (AKT1, AKT2 and AKT3), PKC (PRKCA, PRKCB and PRKCE) and SGK1 (PubMed:15268862, PubMed:15467718, PubMed:21376236, PubMed:24670654, PubMed:29424687, PubMed:29567957, PubMed:35926713). In contrast to mTORC1, mTORC2 is nutrient-insensitive (PubMed:15467718). mTORC2 plays a critical role in AKT1 activation by mediating phosphorylation of different sites depending on the context, such as 'Thr-450', 'Ser-473', 'Ser-477' or 'Thr-479', facilitating the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDPK1/PDK1 which is a prerequisite for full activation (PubMed:15718470, PubMed:21376236, PubMed:24670654, PubMed:29424687, PubMed:29567957). mTORC2 also regulates the phosphorylation of SGK1 at 'Ser-422' (PubMed:18925875). mTORC2 may regulate the actin cytoskeleton, through phosphorylation of PRKCA, PXN and activation of the Rho-type guanine nucleotide exchange factors RHOA and RAC1A or RAC1B (PubMed:15268862). The mTORC2 complex also phosphorylates various proteins involved in insulin signaling, such as FBXW8 and IGF2BP1 (By similarity). May also regulate insulin signaling by acting as a tyrosine protein kinase that catalyzes phosphorylation of IGF1R and INSR; additional evidence are however required to confirm this result in vivo (PubMed:26584640). Regulates osteoclastogenesis by adjusting the expression of CEBPB isoforms (By similarity). Plays an important regulatory role in the circadian clock function; regulates period length and rhythm amplitude of the suprachiasmatic nucleus (SCN) and liver clocks (By similarity)., [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, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]., [RefSeq]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 29, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 178, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 39, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q4LE76;Q5TER1;Q6LE87;Q96QG3;Q9Y4I3", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "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": "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": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "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": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "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:0001002 RNA polymerase III type 1 promoter sequence-specific DNA binding;GO:0001003 RNA polymerase III type 2 promoter sequence-specific DNA binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:1904059 regulation of locomotor rhythm;GO:0055006 cardiac cell development;GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0031670 cellular response to nutrient;GO:0002296 T-helper 1 cell lineage commitment", "synthesized_glycan_count": 0, "hit_score": 95.4, "record_id": "P42345-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y605-1", "uniprot_id": [ { "id": "MOFA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y605", "type": "external" } ], "mass": 14650.0, "length": 127, "protein_name": "MORF4 family-associated protein 1", "gene_name": "MRFAP1", "organism": "Human", "refseq_name": "MORF4 family-associated protein 1 isoform a", "refseq_ac": [ { "id": "NP_001258982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258982", "type": "external" } ], "gene_names_uniprotkb": "MRFAP1; PAM14; PGR1", "gene_names_refseq": "MRFAP1; PAM14; PGR1", "protein_names_uniprotkb": "MORF4 family-associated protein 1; Protein PGR1; Protein associated with MRG of 14 kDa", "protein_names_refseq": "MORF4 family-associated protein 1 isoform a; MORF4 family-associated protein 1; Mof4 family associated protein 1; T-cell activation protein; protein associated with MRG of 14 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:93621)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11500496;12397079;14506250;17008723;18991276;22424782;24366607;25576301;25810538;26154972;26992070;28904123;29393594;29493099;29557506;30779550;31154438;31530632;31844290;31848261;31998317;32157095;32488085;32502341;32938616;32983136;33392160;33912179;33936100;34087483;34171305;34405274;38010586", "class_list": "", "function": "Blood DNA methylation and liver cancer in American Indians: evidence from the Strong Heart Study., [RefSeq, PubMed]; Identify MRG15 residues that form a shallow hydrophobic pocket to interact with the N-terminal 50 residues of PAM14 through primarily hydrophobic interactions., [RefSeq, PubMed]; This gene encodes an intracellular protein that interacts with members of the MORF4/MRG (mortality factor on chromosome 4/MORF4 related gene) family and the tumor suppressor Rb (retinoblastoma protein.) The protein may play a role in senescence, cell growth and immortalization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]., [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": 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": "B3KVT2;D3DVT3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9Y605-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXW4-1", "uniprot_id": [ { "id": "MLP3C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXW4", "type": "external" } ], "mass": 16852.0, "length": 147, "protein_name": "Microtubule-associated protein 1 light chain 3 gamma", "gene_name": "MAP1LC3C", "organism": "Human", "refseq_name": "microtubule-associated protein 1 light chain 3 gamma", "refseq_ac": [ { "id": "NP_001004343", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004343", "type": "external" } ], "gene_names_uniprotkb": "MAP1LC3C", "gene_names_refseq": "ATG8J; LC3C; MAP1LC3C", "protein_names_uniprotkb": "Microtubule-associated protein 1 light chain 3 gamma; Autophagy-related protein LC3 C; Autophagy-related ubiquitin-like modifier LC3 C; MAP1 light chain 3-like protein 3; MAP1A/MAP1B LC3 C; MAP1A/MAP1B light chain 3 C; Microtubule-associated proteins 1A/1B light chain 3C", "protein_names_refseq": "LC3-like protein 2; MAP1 light chain 3-like protein 2; MAP1 light chain 3-like protein 3; MAP1A/MAP1B LC3 C; MAP1A/MAP1B light chain 3 C; autophagy-related protein LC3 C; autophagy-related ubiquitin-like modifier LC3 C; microtubule-associated protein 1 light chain 3 gamma; microtubule-associated proteins 1A/1B light chain 3C", "tax_id": 9606, "disease": "", "pathway": " (hsa:440738); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "11096062;11825910;12740394;15187094;16963840;17618624;18321988;18439900;19211835;19322194;19590496;19855179;19898463;20059746;20529957;20562859;20713597;20818167;20921139;21177865;21205641;21258367;21383122;21460621;21819378;22170151;22354992;22470510;22682742;23022382;23112293;23202584;23459205;23685627;23727157;23884233;24290141;24747438;24954904;25127057;25484072;25568151;26347139;26451915;28404643;29420192;30661429;31709703;31722778;33783314;33909989;34338405;35051231;36215666;37155854;37443287;38348842;39284914;7628435", "class_list": "", "function": "ATG5 selectively engages virus-tethered BST2/tetherin in an LC3C-associated pathway., [RefSeq, PubMed]; Autophagy is a highly regulated bulk degradation process that plays an important role in cellular maintenance and development. MAP1LC3C is an ortholog of the yeast autophagosome protein Atg8 (He et al., 2003 [PubMed 12740394]).[supplied by OMIM, Nov 2010]., [RefSeq]; Reticulophagy mediated by the V-ATPase-ATG16L1-LC3C axis., [RefSeq, PubMed]; Ubiquitin-like modifier that plays a crucial role in antibacterial autophagy (xenophagy) through the selective binding of CALCOCO2 (PubMed:23022382). Recruits all ATG8 family members to infecting bacteria such as S.typhimurium (PubMed:23022382). May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated and aggregated proteins (PubMed:28404643)., [UniProtKB, PubMed, 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": 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": 3, "reported_glycation": 0, "reported_snv": 1, "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": "A0PJY8;A2RUP0", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0008429 phosphatidylethanolamine binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005829 cytosol;GO:0005874 microtubule;GO:0012505 endomembrane system;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0000045 autophagosome assembly;GO:0016236 macroautophagy;GO:0009267 cellular response to starvation;GO:0000423 mitophagy", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9BXW4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57060-1", "uniprot_id": [ { "id": "RWD2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P57060", "type": "external" } ], "mass": 36332.0, "length": 319, "protein_name": "RWD domain-containing protein 2B", "gene_name": "RWDD2B", "organism": "Human", "refseq_name": "RWD domain-containing protein 2B isoform 1", "refseq_ac": [ { "id": "NP_058636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058636", "type": "external" } ], "gene_names_uniprotkb": "RWDD2B; C21orf6; GL011", "gene_names_refseq": "C21orf6; GL011; RWDD2B", "protein_names_uniprotkb": "RWD domain-containing protein 2B", "protein_names_refseq": "RWD domain-containing protein 2B isoform 1; RWD domain-containing protein 2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:10069)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10729227;18669648;20068231;24275569;24715725;25505266;25576301;26154972;27862975;28218747;28904123;29393594;30315122;30429286;31844290;31937595;32157095;32161166;32357974;32755071;33141586;33298915;33592498;34171305;35051231", "class_list": "", "function": "Multi-Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility., [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": 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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P57060-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y281-1", "uniprot_id": [ { "id": "COF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y281", "type": "external" } ], "mass": 18737.0, "length": 166, "protein_name": "Cofilin-2", "gene_name": "CFL2", "organism": "Human", "refseq_name": "cofilin-2 isoform 2", "refseq_ac": [ { "id": "NP_001230574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230574", "type": "external" } ], "gene_names_uniprotkb": "CFL2", "gene_names_refseq": "CFL2; NEM7", "protein_names_uniprotkb": "Cofilin-2; Cofilin, muscle isoform", "protein_names_refseq": "cofilin 2 (muscle); cofilin-2 isoform 2; nemaline myopathy type 7", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); nemaline myopathy 7 (Disease Ontology:DOID:0110934); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:1073)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;11418599;11422377;12684437;15592455;16959974;17016520;17081983;17160903;19413330;19651622;19752190;20068231;22223895;22560515;23186163;25576301;26992070;27600516;28218747;29437277;29557506;30410026;30429286;30484775;31447667;32157095;32161166;32488085;32863228;32938616;33592498;34019948;34087483;34229054;34324029;35051231;35318648;35440100;35580925;36215666;36241641;37316325;37938771;38003645;38665916;8824278;9655398", "class_list": "", "function": "Circ_0008673 regulates breast cancer malignancy by miR-153-3p/CFL2 axis., [RefSeq, PubMed]; Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3 (PubMed:19752190). It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity)., [UniProtKB, UniProtKB, PubMed]; Magic angle spinning NMR structure of human cofilin-2 assembled on actin filaments reveals isoform-specific conformation and binding mode. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]., [RefSeq]; Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization. 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, "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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "G3V5P4", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome;GO:0016363 nuclear matrix", "go_biological_process": "GO:0051014 actin filament severing;GO:0007519 skeletal muscle tissue development;GO:0030042 actin filament depolymerization;GO:0030043 actin filament fragmentation;GO:0030836 positive regulation of actin filament depolymerization", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9Y281-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZQ8-1", "uniprot_id": [ { "id": "MLP3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZQ8", "type": "external" } ], "mass": 14688.0, "length": 125, "protein_name": "Microtubule-associated protein 1 light chain 3 beta", "gene_name": "MAP1LC3B", "organism": "Human", "refseq_name": "microtubule-associated protein 1 light chain 3 beta", "refseq_ac": [ { "id": "NP_073729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073729", "type": "external" } ], "gene_names_uniprotkb": "MAP1LC3B; MAP1ALC3", "gene_names_refseq": "ATG8F; LC3B; MAP1A/1BLC3; MAP1LC3B-a; MAP1LC3B", "protein_names_uniprotkb": "Microtubule-associated protein 1 light chain 3 beta; Autophagy-related protein LC3 B; Autophagy-related ubiquitin-like modifier LC3 B; MAP1 light chain 3-like protein 2; MAP1A/MAP1B LC3 B; MAP1A/MAP1B light chain 3 B; Microtubule-associated proteins 1A/1B light chain 3B", "protein_names_refseq": "MAP1 light chain 3-like protein 2; MAP1A/MAP1B LC3 B; MAP1A/MAP1B light chain 3 B; autophagy-related ubiquitin-like modifier LC3 B; microtubule-associated protein 1 light chain 3 beta; microtubule-associated proteins 1A/1B light chain 3B", "tax_id": 9606, "disease": "", "pathway": " (hsa:81631); (R-HSA-1632852); (R-HSA-5205685); (R-HSA-8854214); (R-HSA-8934903); (R-HSA-9664873); (R-HSA-9679504); (R-HSA-9694676); (R-HSA-9754560); (R-HSA-9755511); (R-HSA-9918487)", "pathway_count": 11, "publication_count": 223, "publication_id_list": "10202141;11096062;11237011;11825910;12198130;12700136;12740394;12932674;14517290;14585973;14688281;14713272;14764894;15095872;15187094;15325588;15331731;15355958;15857831;15983046;16055087;16286508;16359182;16395330;16962933;16963840;17512459;17580304;17618624;17658474;17901050;17979524;18199687;18238777;18273910;18319245;18321988;18439900;18466115;18524774;19211835;19250911;19322194;19398892;19432818;19590496;19855179;19898463;20059746;20095038;20100911;20116244;20126261;20363736;20378532;20404108;20418806;20452972;20495340;20529957;20562859;20712405;20713597;20818167;20921139;20966255;21115803;21177865;21194381;21205641;21220506;21258367;21383079;21383122;21391649;21458671;21460621;21617041;21734707;21799305;21819378;22170151;22219378;22267086;22311637;22354992;22470510;22613832;22682742;22762500;22789539;22795129;22854040;22872865;22922758;22948227;23019362;23112293;23202584;23209295;23274085;23459205;23562278;23685627;23721406;23727157;23884233;24011591;24089205;24290141;24298019;24660806;24668264;24671035;24746696;24747438;24751536;24784582;24954904;25040165;25135833;25215947;25440060;25474007;25484072;25527497;25568151;25645385;25684205;25793262;25921531;26040720;26116755;26117325;26344566;26365381;26451915;26583321;26735137;26942676;27035970;27068951;27247382;28017329;28380357;28395732;28668392;28904123;29117567;29233872;29242379;29314611;29394115;29420192;29450944;29458288;29526543;29557506;29632711;29995846;30420355;30429286;30484775;30610225;30661429;30700497;31006537;31006538;31091447;31131315;31231549;31315929;31356149;31546975;31722778;31844290;32157095;32161166;32284348;32293500;32296703;32315611;32640524;32672401;32890404;32897882;32938616;32983136;33009401;33043033;33298915;33422265;33499712;33592498;33783314;33791708;33859744;33909989;33936100;33947832;33966045;33968037;34338405;34357683;34386498;34433824;34696522;35051231;35154160;35251023;35561310;35580925;35585045;36215666;36241641;36758105;38177122;38287189;38388661;38412240;38527804;39284914;7628435", "class_list": "", "function": "Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the conjugation of hApg12p to hApg5p, [RefSeq, PubMed]; Identifying CTH and MAP1LC3B as ferroptosis biomarkers for prognostic indication in gastric cancer decoding. Publication Status: Online-Only, [RefSeq, PubMed]; LC3B drives transcription-associated homologous recombination via direct interaction with R-loops., [RefSeq, PubMed]; Linc00673-V3 positively regulates autophagy by promoting Smad3-mediated LC3B transcription in NSCLC. Publication Status: Online-Only, [RefSeq, PubMed]; The essential site for the distinct post-translation modification of microtubule-associated protein 1 light chain 3B is Lys-122 rather than the conserved Gly-120, [RefSeq, PubMed]; The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. [provided by RefSeq, Jul 2008]., [RefSeq]; Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes) (PubMed:20418806, PubMed:23209295, PubMed:28017329). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production (PubMed:23209295, PubMed:28017329). In response to cellular stress and upon mitochondria fission, binds C-18 ceramides and anchors autophagolysosomes to outer mitochondrial membranes to eliminate damaged mitochondria (PubMed:22922758). While LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:20418806, PubMed:23209295, PubMed:28017329). Promotes primary ciliogenesis by removing OFD1 from centriolar satellites via the autophagic pathway (PubMed:24089205). Through its interaction with the reticulophagy receptor TEX264, participates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006537, PubMed:31006538). Upon nutrient stress, directly recruits cofactor JMY to the phagophore membrane surfaces and promotes JMY's actin nucleation activity and autophagosome biogenesis during autophagy (PubMed:30420355)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 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": 14, "reported_glycation": 0, "reported_snv": 2, "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": "Q6NW02", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0031625 ubiquitin protein ligase binding;GO:0008429 phosphatidylethanolamine binding;GO:0097001 ceramide binding;GO:0005543 phospholipid binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005874 microtubule;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0000045 autophagosome assembly;GO:0016236 macroautophagy;GO:0006914 autophagy;GO:0009267 cellular response to starvation", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "Q9GZQ8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2U5-1", "uniprot_id": [ { "id": "M3K2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2U5", "type": "external" } ], "mass": 69741.0, "length": 619, "protein_name": "Mitogen-activated protein kinase kinase kinase 2", "gene_name": "MAP3K2", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 2", "refseq_ac": [ { "id": "NP_006600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006600", "type": "external" } ], "gene_names_uniprotkb": "MAP3K2; MAPKKK2; MEKK2", "gene_names_refseq": "MAP3K2; MEKK2B; MEKK2", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 2; 2.7.11.25; MAPK/ERK kinase kinase 2; MEK kinase 2; MEKK 2", "protein_names_refseq": "MAP/ERK kinase kinase 2; MAPK/ERK kinase kinase 2; MEK kinase 2; MEKK 2; mitogen-activated protein kinase kinase kinase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10746)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10713157;15075238;16001074;17081983;17322306;17344846;17906693;18088087;18212344;18220336;18669648;18691976;18707149;18761086;18767875;19369195;19651622;19690332;20068231;20166139;23186163;23963453;24275569;25892735;26992070;28228285;28514659;28832583;28855257;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29769354;30315122;30410026;30429286;31530632;31844290;31848261;32157095;32161166;32265295;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33537174;33691108;33912179;33968037;34087483;34171305;34509645;35051231;35352818;35580925;35929837;36010968;36284347;36810972;37258120", "class_list": "", "function": "CircHSPG2 knockdown attenuates hypoxia-induced apoptosis, inflammation, and oxidative stress in human AC16 cardiomyocytes by regulating the miR-1184/MAP3K2 axis., [RefSeq, PubMed]; CircRNA circBACH1 facilitates hepatitis B virus replication and hepatoma development by regulating the miR-200a-3p/MAP3K2 axis., [RefSeq, PubMed]; Component of a protein kinase signal transduction cascade. Regulates the JNK and ERK5 pathways by phosphorylating and activating MAP2K5 and MAP2K7 (By similarity). Plays a role in caveolae kiss-and-run dynamics., [UniProtKB, PubMed, PubMed]; MiRNA-338-3p inhibits the migration, invasion and proliferation of human lung adenocarcinoma cells by targeting MAP3K2., [RefSeq, PubMed]; Regulation of a Novel CircTRRAP/miR-761/MAP3K2 CeRNA Cascade in Inflammation, Apoptosis, and Oxidative Stress in Human AC16 Cardiomyocytes under Hypoxia Conditions., [RefSeq, PubMed]; The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. [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, "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": 18, "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": "B9EG87;Q53QL9;Q53S75;Q59GZ6;Q8NC32;Q9NYK3", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "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:0019901 protein kinase binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0000165 MAPK cascade;GO:0071260 cellular response to mechanical stimulus", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9Y2U5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98177-1", "uniprot_id": [ { "id": "FOXO4_HUMAN", "url": "https://www.uniprot.org/uniprot/P98177", "type": "external" } ], "mass": 53684.0, "length": 505, "protein_name": "Forkhead box protein O4", "gene_name": "FOXO4", "organism": "Human", "refseq_name": "forkhead box protein O4 isoform 2", "refseq_ac": [ { "id": "NP_001164402", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164402", "type": "external" } ], "gene_names_uniprotkb": "FOXO4; AFX1; AFX; MLLT7", "gene_names_refseq": "AFX1; AFX; FOXO4; MLLT7", "protein_names_uniprotkb": "Forkhead box protein O4; Fork head domain transcription factor AFX1", "protein_names_refseq": "fork head domain transcription factor AFX1; forkhead box protein O4 isoform 2; forkhead box protein O4; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7", "tax_id": 9606, "disease": "gastric ulcer (Disease Ontology:DOID:10808); Parkinson's disease (Disease Ontology:DOID:14330); alcohol-induced mental disorder (Disease Ontology:DOID:251); paraplegia (Disease Ontology:DOID:607)", "pathway": " (hsa:4303); (R-HSA-198693); (R-HSA-5674400); (R-HSA-5689880); (R-HSA-9614399); (R-HSA-9614657); (R-HSA-9615017); (R-HSA-9617629); (R-HSA-9617828); (R-HSA-9733709)", "pathway_count": 10, "publication_count": 173, "publication_id_list": "10.1101/2023.09.13.557529;10102273;10217147;10358014;10358075;10444327;10480625;10485710;10490848;10518537;10783894;10913147;10921784;10982817;11237865;11274386;11313479;11352721;11566882;11689711;11715018;11777915;11779849;11884591;11923872;11964479;12150915;12172553;12239572;12244303;12524439;12668767;12761217;12767043;12857750;12917689;12917691;14576824;14617782;14661020;14701673;14976264;15053880;15084259;15095414;15126506;15169778;15220471;15458387;15509806;15527798;15538382;15688030;15916963;15987244;16054032;16114898;16214042;16272144;16783365;16840535;16901786;16943287;16964248;17244620;17290220;17443180;17611497;17873522;17980597;17981138;18158893;18172164;18256540;18444242;18467330;18632802;18636086;18954143;19015242;19135894;19188362;19363159;19398555;19416966;19424180;19479054;19644473;19664994;19838211;19874889;19910467;19932102;20096447;20228808;20368735;20440266;20489726;20501646;20874444;20959475;20978166;21239494;21362556;21536589;21571647;21596315;21659512;21849505;21962518;22025163;22029577;22085928;22128162;22216260;22412893;22972301;23159851;23395819;23486064;23580232;23665396;23707940;23824326;23825189;23918930;24028821;24040102;24047697;24056413;24260525;24493797;24896179;24984152;25187301;25197364;25305019;25578727;25843800;26715362;26783251;27547294;27561725;27893789;28904123;28945225;29533771;29636455;30192525;30429286;31154438;31844290;32157095;32488085;32938616;33054971;33103284;33968037;35051231;35580925;36010968;36700213;37861000;38037460;7529552;7578059;9010221;9341872;9381178;9478990;9812896;9829964;9895304", "class_list": "", "function": "AFX zeta is a downstream target of both the phosphatidylinositol 3-kinase/PKB insulin signaling pathway and an AMP-activated protein kinase-dependent pathway., [RefSeq, PubMed]; CBP-mediated FOXO4 acetylation facilitates postmenopausal osteoporosis (PMO) progression through the inhibition of the Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; Smurf2-Mediated Ubiquitination of FOXO4 Regulates Oxygen-glucose Deprivation/Reperfusion-induced Pyroptosis of Cortical Neurons., [RefSeq, PubMed]; The role of FOXO4/NFAT2 signaling pathway in dysfunction of human coronary endothelial cells and inflammatory infiltration of vasculitis in Kawasaki disease. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the O class of winged helix/forkhead transcription factor family. Proteins encoded by this class are regulated by factors involved in growth and differentiation indicating they play a role in these processes. A translocation involving this gene on chromosome X and the homolog of the Drosophila trithorax gene, encoding a DNA binding protein, located on chromosome 11 is associated with leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]., [RefSeq]; Transcription factor involved in the regulation of the insulin signaling pathway. Binds to insulin-response elements (IREs) and can activate transcription of IGFBP1. Down-regulates expression of HIF1A and suppresses hypoxia-induced transcriptional activation of HIF1A-modulated genes. Also involved in negative regulation of the cell cycle. Involved in increased proteasome activity in embryonic stem cells (ESCs) by activating expression of PSMD11 in ESCs, leading to enhanced assembly of the 26S proteasome, followed by higher proteasome activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7WPJ7;O43821;Q13720;Q3KPF1;Q8TDK9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006979 response to oxidative stress;GO:0008285 negative regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "P98177-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100010001001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43365-1", "uniprot_id": [ { "id": "MAGAC_HUMAN", "url": "https://www.uniprot.org/uniprot/P43365", "type": "external" } ], "mass": 34836.0, "length": 314, "protein_name": "Melanoma-associated antigen 12", "gene_name": "MAGEA12", "organism": "Human", "refseq_name": "melanoma-associated antigen 12", "refseq_ac": [ { "id": "NP_001159858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159858", "type": "external" } ], "gene_names_uniprotkb": "MAGEA12; MAGE12", "gene_names_refseq": "CT1.12; MAGE12; MAGEA12", "protein_names_uniprotkb": "Melanoma-associated antigen 12; CT1.12; Cancer/testis antigen 1.12; MAGE-12 antigen; MAGE12F antigen", "protein_names_refseq": "MAGE12F antigen; cancer/testis antigen 1.12; cancer/testis antigen family 1, member 12; melanoma antigen family A, 12; melanoma antigen family A12; melanoma-associated antigen 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:4111)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10854409;11560998;17942928;23481700;24715725;25576301;25645385;25892735;26154972;27600516;27869121;27920218;28043151;28228285;30410026;30952725;32488085;32897882;32938616;33141586;33298915;33592498;33912179;34085601;34211107;34290406;36010968;36215666;38253038;39394480;8037761;8276455", "class_list": "", "function": "MAGEA12-mediated down-regulation of p21 may be involved in cutaneous squamous cell carcinoma pathogenesis and MAGEA12 may serve as a molecular biomarker in cSCC., [RefSeq, PubMed]; Not known, though may play a role tumor transformation or progression. In vitro promotes cell viability in melanoma cell lines., [UniProtKB, PubMed]; Over-expression of MAGEA12 in a subset of gastric cancers was associated with later stage and reduced survival, [RefSeq, PubMed]; Resveratrol acts via melanoma-associated antigen A12 (MAGEA12)/protein kinase B (Akt) signaling to inhibit the proliferation of oral squamous cell carcinoma cells., [RefSeq, PubMed]; This gene is closely related to several other genes clustered on chromosome X. These genes may be overexpressed in tumors. Multiple alternatively spliced variants encoding the same protein have been identified. [provided by RefSeq, Jun 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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "Q6FHH8;Q9NSD3", "ec_number_list": [], "go_molecular_function": "GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "P43365-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05639-1", "uniprot_id": [ { "id": "EF1A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05639", "type": "external" } ], "mass": 50470.0, "length": 463, "protein_name": "Elongation factor 1-alpha 2", "gene_name": "EEF1A2", "organism": "Human", "refseq_name": "elongation factor 1-alpha 2", "refseq_ac": [ { "id": "NP_001949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001949", "type": "external" } ], "gene_names_uniprotkb": "EEF1A2; EEF1AL; STN", "gene_names_refseq": "DEE33; EEF1A2; EEF1AL; EF-1-alpha-2; EF1A; EIEE33; HS1; MRD38; STNL; STN", "protein_names_uniprotkb": "Elongation factor 1-alpha 2; 3.6.5.-; EF-1-alpha-2; Eukaryotic elongation factor 1 A-2; Statin-S1; eEF1A-2", "protein_names_refseq": "elongation factor 1-alpha 2; eukaryotic elongation factor 1 A-2; statin-S1", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); autosomal dominant intellectual developmental disorder 38 (Disease Ontology:DOID:0070068); developmental and epileptic encephalopathy 33 (Disease Ontology:DOID:0080463); Alzheimer's disease (Disease Ontology:DOID:10652); dilated cardiomyopathy (Disease Ontology:DOID:12930); epilepsy (Disease Ontology:DOID:1826); ovarian cancer (Disease Ontology:DOID:2394); primary ovarian insufficiency (Disease Ontology:DOID:5426); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:1917); (R-HSA-156842)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10368288;10950927;11237011;15592455;18697946;19054851;19608861;19636410;19901323;20643906;20923971;20964681;21081667;23033978;23481700;23647072;24129315;24697219;24715725;25326326;26740508;26811146;27920218;28108655;28510447;28520920;28904123;29493099;29557506;29632711;30143613;30192525;30397120;30573663;30612740;31154438;31844290;32157095;32161166;32387766;32488085;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33592498;33912179;33968037;34019948;34087483;34171305;34211107;34229054;34357683;34509645;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35526384;35561310;35580925;36010968;36240223;36241641;36581221;36697828;37217939;37695913;37852428;37938771;38220433;39154122;39990658;40596516;41350704;7878657;7945283;8354261", "class_list": "", "function": "Ac4C modification of lncRNA SIMALR promotes nasopharyngeal carcinoma progression through activating eEF1A2 to facilitate ITGB4/ITGA6 translation., [RefSeq, PubMed]; Autism- and epilepsy-associated EEF1A2 mutations lead to translational dysfunction and altered actin bundling., [RefSeq, PubMed]; Hypoxia-induced circ-CDYL-EEF1A2 transcriptional complex drives lung metastasis of cancer stem cells from hepatocellular carcinoma., [RefSeq, PubMed]; This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]., [RefSeq]; This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis., [UniProtKB, UniProtKB]; Translation elongation factor that catalyzes the GTP-dependent binding of aminoacyl-tRNA (aa-tRNA) to the A-site of ribosomes during the elongation phase of protein synthesis. Base pairing between the mRNA codon and the aa-tRNA anticodon promotes GTP hydrolysis, releasing the aa-tRNA from EEF1A1 and allowing its accommodation into the ribosome (By similarity). The growing protein chain is subsequently transferred from the P-site peptidyl tRNA to the A-site aa-tRNA, extending it by one amino acid through ribosome-catalyzed peptide bond formation (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Understanding functions of eEF1 translation elongation factors beyond translation. A proteomic approach., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B5BUF3;E1P5J1;P54266;Q0VGC7", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "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.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0003746 translation elongation factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0045202 synapse;GO:0005789 endoplasmic reticulum membrane;GO:0098574 cytoplasmic side of lysosomal membrane;GO:0005853 eukaryotic translation elongation factor 1 complex", "go_biological_process": "GO:0006412 translation;GO:1904714 regulation of chaperone-mediated autophagy;GO:0006414 translational elongation;GO:0090218 positive regulation of lipid kinase activity", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q05639-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53816-1", "uniprot_id": [ { "id": "PLAT3_HUMAN", "url": "https://www.uniprot.org/uniprot/P53816", "type": "external" } ], "mass": 17937.0, "length": 162, "protein_name": "Phospholipase A and acyltransferase 3", "gene_name": "PLAAT3", "organism": "Human", "refseq_name": "phospholipase A and acyltransferase 3", "refseq_ac": [ { "id": "NP_001121675", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121675", "type": "external" } ], "gene_names_uniprotkb": "PLAAT3; HRASLS3; HREV107; PLA2G16", "gene_names_refseq": "AdPLA; FPLD9; H-REV107-1; H-REV107; HRASLS3; HREV107-1; HREV107-3; HREV107; HRSL3; PLA2G16; PLAAT-3; PLAAT3", "protein_names_uniprotkb": "Phospholipase A and acyltransferase 3; 2.3.1.-; 3.1.1.32; 3.1.1.4; AdPLA; Adipose-specific phospholipase A2; Group XVI phospholipase A1/A2; H-REV107; H-rev 107 protein homolog; HRAS-like suppressor 1; HRAS-like suppressor 3; HREV107-1; HREV107-3; HRSL3; Renal carcinoma antigen NY-REN-65", "protein_names_refseq": "Ca-independent phospholipase A1/2; H-rev 107 protein homolog; HRAS-like suppressor 1; HRAS-like suppressor 3; adipose-specific PLA2; adipose-specific phospholipase A2; group XVI phospholipase A1/A2; group XVI phospholipase A2; phospholipase A and acyltransferase 3; phospholipase A/acyltransferase-3; phospholipase A2 group XVI; renal carcinoma antigen NY-REN-65", "tax_id": 9606, "disease": "seminoma (Disease Ontology:DOID:4440); lipodystrophy, familial partial, type 9 (MONDO:MONDO:0958034)", "pathway": " (hsa:11145); (R-HSA-1482788); (R-HSA-1482801); (R-HSA-1482839); (R-HSA-1482922)", "pathway_count": 5, "publication_count": 95, "publication_id_list": "10085124;10092647;10196188;10336645;10358058;10455175;10508479;10681567;11031251;11112443;11237011;11526504;11830583;11973642;12150957;12161451;12359733;12522102;14709560;15695510;15863501;15944408;1618844;16243729;16617059;16704971;16818490;16864775;17101204;17182612;17374643;18094042;18195019;18287005;18458083;18614531;18772128;18781350;19019078;1904318;19047760;19136964;19351971;19501189;19554302;19615464;20705608;20837014;21220512;21515882;22605381;22825852;22906437;22923616;23934110;25383759;26206935;26463208;26503625;28077878;2925608;2925633;29557506;30343388;30833945;31154438;31233548;31844290;31848261;31998317;32157095;32350084;32357974;32488085;32853041;32938616;32983136;32985124;33298915;33592498;33912179;33968037;34171305;34561969;34932366;35051231;35580925;37919452;7060561;8083230;8300559;9188469;9417066;9705332;9771974", "class_list": "", "function": "(Microbial infection) Acts as a host factor for picornaviruses: required during early infection to promote viral genome release into the cytoplasm (PubMed:28077878). May act as a cellular sensor of membrane damage at sites of virus entry, which relocalizes to sites of membrane rupture upon virus unfection (PubMed:28077878). Facilitates safe passage of the RNA away from LGALS8, enabling viral genome translation by host ribosome (PubMed:28077878). May also be involved in initiating pore formation, increasing pore size or in maintaining pores for genome delivery (PubMed:28077878). The lipid-modifying enzyme activity is required for this process (PubMed:28077878)., [UniProtKB, PubMed]; Exhibits both phospholipase A1/2 and acyltransferase activities (PubMed:19047760, PubMed:19615464, PubMed:22605381, PubMed:22825852, PubMed:26503625). Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (PubMed:19047760, PubMed:19615464, PubMed:22605381, PubMed:22825852, PubMed:22923616). For most substrates, PLA1 activity is much higher than PLA2 activity (PubMed:19615464). Shows O-acyltransferase activity,catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid (PubMed:19615464). Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophospholipids to the primary amine of phosphatidylethanolamine (PE), forming N-acylphosphatidylethanolamine (NAPE), which serves as precursor for N-acylethanolamines (NAEs) (PubMed:19047760, PubMed:19615464, PubMed:22605381, PubMed:22825852). Exhibits high N-acyltransferase activity and low phospholipase A1/2 activity (PubMed:22825852). Required for complete organelle rupture and degradation that occur during eye lens terminal differentiation, when fiber cells that compose the lens degrade all membrane-bound organelles in order to provide lens with transparency to allow the passage of light. Organelle membrane degradation is probably catalyzed by the phospholipase activity (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PLA2G16 SNPs are associated with the colorectal cancer risk in the Chinese population., [RefSeq, PubMed]; PLA2G16 is a mutant p53/KLF5 transcriptional target and promotes glycolysis of pancreatic cancer., [RefSeq, PubMed]; PLA2G16 methylation defines an extensive field defect in histologically normal prostate tissue associated with PC. Publication Status: Online-Only, [RefSeq, PubMed]; Skeletal muscle expression of adipose-specific phospholipase in peripheral artery disease., [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": 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": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7Q4;B7XAK5;Q3SYI3;Q9HDD1", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "2.3.1.43", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.43", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.34", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.4.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.-", "type": "external" }, { "id": "3.1.1.111", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.111", "type": "external" }, { "id": "3.1.1.118", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.118", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0008289 lipid binding;GO:0004623 phospholipase A2 activity;GO:0008970 phospholipase A1 activity;GO:0016746 acyltransferase activity;GO:0016410 N-acyltransferase activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane", "go_biological_process": "GO:1903008 organelle disassembly;GO:0006641 triglyceride metabolic process;GO:0007031 peroxisome organization;GO:0016042 lipid catabolic process;GO:0036152 phosphatidylethanolamine acyl-chain remodeling", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P53816-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4E7-1", "uniprot_id": [ { "id": "DEFI6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4E7", "type": "external" } ], "mass": 73910.0, "length": 631, "protein_name": "Differentially expressed in FDCP 6 homolog", "gene_name": "DEF6", "organism": "Human", "refseq_name": "differentially expressed in FDCP 6 homolog", "refseq_ac": [ { "id": "NP_071330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071330", "type": "external" } ], "gene_names_uniprotkb": "DEF6; IBP", "gene_names_refseq": "DEF6; IBP; IMD87; SLAT; SWAP70L", "protein_names_uniprotkb": "Differentially expressed in FDCP 6 homolog; DEF-6; IRF4-binding protein", "protein_names_refseq": "DEF-6; IRF4-binding protein; SWAP-70-like adaptor protein of T cells; differentially expressed in FDCP 6 homolog", "tax_id": 9606, "disease": "immunodeficiency 87 (Disease Ontology:DOID:0061057); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:50619); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404)", "pathway_count": 5, "publication_count": 357, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10847683;10873388;10873802;10958683;11007481;11058585;11085924;11145705;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11919634;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221077;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12650940;12651066;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15169870;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15542837;15579468;15601624;15611138;15728722;15814684;15850391;15858067;15866170;15897194;16002401;16081809;16112081;16116428;16184169;16217026;16243035;16243036;16467373;16473593;16492808;16507994;16519628;1660188;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17060455;17064668;17077126;17121847;17145773;17158234;17196961;17214551;17244649;17269730;17562871;17583407;17599059;17698854;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18191593;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18662984;18786931;18829452;18835169;18838382;18929667;18976935;19269969;19494238;19605563;19608861;19635168;19673492;19690332;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21151158;21351730;21378159;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22829599;22911862;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23757206;23870057;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24623723;24859002;24933155;24960694;24996924;25024229;25211221;25418920;25428919;25704760;25721503;25795300;25862245;25963737;26016997;26129894;26299518;26371245;26529257;26598554;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27986909;28028151;28112683;28114311;28196833;28584191;28825699;28860633;28993769;29089502;29146911;29242379;29358323;29382922;29557506;30061681;30429286;30853411;31105010;31308374;31389670;31844290;31871319;32203420;32350084;32387766;32502341;32562707;32938616;32983136;33000227;33633747;33968037;34357683;34509645;34561969;35051231;35580925;40914422;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9705280;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity., [RefSeq, PubMed]; DEF6 not only activates Rho-family GTPases but also cooperates with activated Rac1 to exert its cellular function, [RefSeq, PubMed]; DEF6, a novel PH-DH-like domain protein, is an upstream activator of the Rho GTPases Rac1, Cdc42, and RhoA., [RefSeq, PubMed]; DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]., [RefSeq]; High expression levels of DEF6 predicts a poor prognosis for patients with clear cell renal cell carcinoma., [RefSeq, PubMed]; IBP is a novel guanine nucleotide exchange factor and is recruited to the immunological synapse by T cell receptor engagement, [RefSeq, PubMed]; Molecular cloning of IBP, a guanine nucleotide exchange factor, which is highly expressed in the immune system., [RefSeq, PubMed]; Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42 (PubMed:12651066, PubMed:15023524). Can regulate cell morphology in cooperation with activated RAC1 (By similarity). Involved in immune homeostasis by ensuring proper trafficking and availability of T-cell regulator CTLA-4 at T-cell surface (PubMed:31308374). Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, 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": 10, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 6, "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": "Q86VF4", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0098876 vesicle-mediated transport to the plasma membrane", "synthesized_glycan_count": 0, "hit_score": 36.0, "record_id": "Q9H4E7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWZ5-1", "uniprot_id": [ { "id": "TRI42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWZ5", "type": "external" } ], "mass": 82745.0, "length": 723, "protein_name": "Tripartite motif-containing protein 42", "gene_name": "TRIM42", "organism": "Human", "refseq_name": "tripartite motif-containing protein 42", "refseq_ac": [ { "id": "NP_689829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689829", "type": "external" } ], "gene_names_uniprotkb": "TRIM42", "gene_names_refseq": "PPP1R40; T4A1; TRIM42", "protein_names_uniprotkb": "Tripartite motif-containing protein 42", "protein_names_refseq": "protein phosphatase 1, regulatory subunit 40; tripartite motif-containing protein 42", "tax_id": 9606, "disease": "", "pathway": " (hsa:287015)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "27600516;29242379;35051231", "class_list": "", "function": "This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]., [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": 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": 38, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1L4B4;A1L4B6;Q8N832;Q8NDL3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8IWZ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40222-1", "uniprot_id": [ { "id": "TXLNA_HUMAN", "url": "https://www.uniprot.org/uniprot/P40222", "type": "external" } ], "mass": 61891.0, "length": 546, "protein_name": "Alpha-taxilin", "gene_name": "TXLNA", "organism": "Human", "refseq_name": "alpha-taxilin isoform 1", "refseq_ac": [ { "id": "NP_787048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_787048", "type": "external" } ], "gene_names_uniprotkb": "TXLNA; TXLN", "gene_names_refseq": "IL-14; IL14; TXLNA; TXLN", "protein_names_uniprotkb": "Alpha-taxilin", "protein_names_refseq": "alpha-taxilin isoform 1; alpha-taxilin; interleukin 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:200081); (R-HSA-449836)", "pathway_count": 2, "publication_count": 153, "publication_id_list": "10395686;10438516;12469119;12558796;14623251;16488976;16492764;17081983;17287340;17322306;18220336;18452278;18467591;18669648;18691976;18767875;19413330;19415658;19651622;19664995;19690332;20068230;20068231;20166139;21136679;21406692;2147944;21716315;22544926;22869377;23186163;23291588;23301498;23481700;23744080;24275569;24366607;24714562;24715725;25418920;25502872;25505266;25576301;25645385;25662098;25802875;26024233;26095744;26154972;26375851;26728094;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30484775;30524438;30779550;31092671;31154438;31217245;31222486;31492838;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34509645;34932366;35051231;35119360;35132862;35154160;35251023;35254053;35318648;35561310;35580925;35705054;36010968;36215666;36241641;36284347;37217939;37340703;37541260;37938771;38665916;38838015;40307207;40596516;7615501;7805849;8327514;9422780", "class_list": "", "function": "Alpha-/gamma-Taxilin are required for centriolar subdistal appendage assembly and microtubule organization. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in intracellular vesicle traffic and potentially in calcium-dependent exocytosis in neuroendocrine cells., [UniProtKB]", "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": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "D3DPP6;Q5TFJ6;Q66K62;Q86T54;Q86T85;Q86T86;Q86Y86;Q86YW3;Q8N2Y3", "ec_number_list": [], "go_molecular_function": "GO:0019905 syntaxin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "P40222-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42768-1", "uniprot_id": [ { "id": "WASP_HUMAN", "url": "https://www.uniprot.org/uniprot/P42768", "type": "external" } ], "mass": 52913.0, "length": 502, "protein_name": "Actin nucleation-promoting factor WAS", "gene_name": "WAS", "organism": "Human", "refseq_name": "actin nucleation-promoting factor WAS isoform 1", "refseq_ac": [ { "id": "NP_000368", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000368", "type": "external" } ], "gene_names_uniprotkb": "WAS; IMD2", "gene_names_refseq": "IMD2; SCNX; THC1; THC; WASPA; WASP; WAS", "protein_names_uniprotkb": "Actin nucleation-promoting factor WAS; WASp; Wiskott-Aldrich syndrome protein", "protein_names_refseq": "actin nucleation-promoting factor WAS isoform 1; actin nucleation-promoting factor WAS; eczema-thrombocytopenia; thrombocytopenia 1 (X-linked); wiskott-Aldrich syndrome protein", "tax_id": 9606, "disease": "X-linked severe congenital neutropenia (Disease Ontology:DOID:0112128); thrombocytopenia (Disease Ontology:DOID:1588); IgA glomerulonephritis (Disease Ontology:DOID:2986); Wiskott-Aldrich syndrome (Disease Ontology:DOID:9169)", "pathway": " (hsa:7454); (R-HSA-202433); (R-HSA-2029482); (R-HSA-5663213); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013409); (R-HSA-9664422)", "pathway_count": 8, "publication_count": 451, "publication_id_list": 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"class_list": "", "function": "Association of Wiskott-Aldrich syndrome protein (WASp) in epigenetic regulation of B cell differentiation in non-small-cell lung cancer (NSCLC). Publication Status: Online-Only, [RefSeq, PubMed]; Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex (PubMed:12235133, PubMed:12769847, PubMed:16275905). Important for efficient actin polymerization (PubMed:12235133, PubMed:16275905, PubMed:8625410). Possible regulator of lymphocyte and platelet function (PubMed:9405671). Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria (PubMed:18650809). In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:20574068). Promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Pan-Cancer Proteomics Analysis Reveals Wiskott-Aldrich Syndrome Protein as a Potential Regulator of Programmed Death-Ligand 1., [RefSeq, PubMed]; Role of Wiskott Aldrich syndrome protein in haematological malignancies: genetics, molecular mechanisms and therapeutic strategies. Review article, [RefSeq, PubMed]; Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome., [RefSeq, PubMed]; The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]., [RefSeq]; Wiskott-Aldrich syndrome protein interacts and inhibits diacylglycerol kinase alpha promoting IL-2 induction. Publication Status: Online-Only, [RefSeq, 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": 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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9BU11;Q9UNJ9", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0017124 SH3 domain binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005884 actin filament;GO:0005911 cell-cell junction;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0008064 regulation of actin polymerization or depolymerization;GO:0006952 defense response;GO:0006955 immune response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 45.4, "record_id": "P42768-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63167-1", "uniprot_id": [ { "id": "DYL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P63167", "type": "external" } ], "mass": 10366.0, "length": 89, "protein_name": "Dynein light chain 1, cytoplasmic", "gene_name": "DYNLL1", "organism": "Human", "refseq_name": "dynein light chain 1, cytoplasmic", "refseq_ac": [ { "id": "NP_001032583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032583", "type": "external" } ], "gene_names_uniprotkb": "DYNLL1; DLC1; DNCL1; DNCLC1; HDLC1", "gene_names_refseq": "DLC1; DLC8; DNCL1; DNCLC1; DYNLL1; LC8a; LC8; PIN; hdlc1", "protein_names_uniprotkb": "Dynein light chain 1, cytoplasmic; 8 kDa dynein light chain; DLC8; Dynein light chain LC8-type 1; PIN; Protein inhibitor of neuronal nitric oxide synthase", "protein_names_refseq": "8 kDa dynein light chain; cytoplasmic dynein light polypeptide; dynein light chain 1, cytoplasmic; dynein, cytoplasmic, light polypeptide 1; protein inhibitor of neuronal nitric oxide synthase", "tax_id": 9606, "disease": "cardiac arrest (Disease Ontology:DOID:0060319); hypertension (Disease Ontology:DOID:10763); impotence (Disease Ontology:DOID:1875); middle cerebral artery infarction (Disease Ontology:DOID:3525); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:8655); (R-HSA-111446); (R-HSA-141430); (R-HSA-141444); (R-HSA-1632852); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-2565942); (R-HSA-3371497); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-5620924); (R-HSA-5663220); (R-HSA-6798695); (R-HSA-6807878); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8854518); (R-HSA-9609690); (R-HSA-9646399); (R-HSA-9648025)", "pathway_count": 25, "publication_count": 586, "publication_id_list": 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"class_list": "", "function": "Component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Required for structural and functional integrity of cilia (By similarity). Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function (By similarity). Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules (By similarity). May play a role in changing or maintaining the spatial distribution of cytoskeletal structures (By similarity). In addition to its role in cytoskeleton and transport, acts as a protein-protein adapter, which inhibits and/or sequesters target proteins (PubMed:10198631, PubMed:15193260, PubMed:15891768, PubMed:16684779, PubMed:30464262, PubMed:37696958). Involved in the response to DNA damage by acting as a key regulator of DNA end resection: when phosphorylated at Ser-88, recruited to DNA double-strand breaks (DSBs) by TP53BP1 and acts by disrupting MRE11 dimerization, thereby inhibiting DNA end resection (PubMed:30464262, PubMed:37696958). In a subset of DSBs, DYNLL1 remains unphosphorylated and promotes the recruitment of the Shieldin complex (PubMed:37696958). Binds and inhibits the catalytic activity of neuronal nitric oxide synthase/NOS1 (By similarity). Promotes transactivation functions of ESR1 and plays a role in the nuclear localization of ESR1 (PubMed:15891768, PubMed:16684779). Regulates apoptotic activities of BCL2L11 by sequestering it to microtubules (PubMed:10198631, PubMed:15193260). Upon apoptotic stimuli the BCL2L11-DYNLL1 complex dissociates from cytoplasmic dynein and translocates to mitochondria and sequesters BCL2 thus neutralizing its antiapoptotic activity (PubMed:10198631, PubMed:15193260)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Dimerization of hub protein DYNLL1 and bZIP transcription factor CREB3L1 enhances transcriptional activation of CREB3L1 target genes like arginine vasopressin., [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": 3, "reported_glycation": 0, "reported_snv": 0, "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": "Q15701", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0097110 scaffold protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005813 centrosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006915 apoptotic process;GO:0021762 substantia nigra development;GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 58.9, "record_id": "P63167-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63279-1", "uniprot_id": [ { "id": "UBC9_HUMAN", "url": "https://www.uniprot.org/uniprot/P63279", "type": "external" } ], "mass": 18007.0, "length": 158, "protein_name": "SUMO-conjugating enzyme UBC9", "gene_name": "UBE2I", "organism": "Human", "refseq_name": "SUMO-conjugating enzyme UBC9", "refseq_ac": [ { "id": "NP_003336", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003336", "type": "external" } ], "gene_names_uniprotkb": "UBE2I; UBC9; UBCE9", "gene_names_refseq": "C358B7.1; P18; UBC9; UBE2I", "protein_names_uniprotkb": "SUMO-conjugating enzyme UBC9; 2.3.2.-; RING-type E3 SUMO transferase UBC9; SUMO-protein ligase; Ubiquitin carrier protein 9; Ubiquitin carrier protein I; Ubiquitin-conjugating enzyme E2 I; Ubiquitin-protein ligase I; p18", "protein_names_refseq": "RING-type E3 SUMO transferase UBC9; SUMO-1-protein ligase; SUMO-conjugating enzyme UBC9; SUMO-protein ligase; ubiquitin carrier protein 9; ubiquitin carrier protein I; ubiquitin conjugating enzyme 9; ubiquitin conjugating enzyme E2I; ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast); ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9); ubiquitin-conjugating enzyme UbcE2A; ubiquitin-like protein SUMO-1 conjugating enzyme; ubiquitin-protein ligase E2I; ubiquitin-protein ligase I", "tax_id": 9606, "disease": "urinary bladder cancer (Disease Ontology:DOID:11054); dilated cardiomyopathy (Disease Ontology:DOID:12930); cancer (Disease Ontology:DOID:162); ovarian cancer (Disease Ontology:DOID:2394); hematologic cancer (Disease Ontology:DOID:2531)", "pathway": " (hsa:7329); (R-HSA-1221632); (R-HSA-196791); (R-HSA-3065678); (R-HSA-3108214); (R-HSA-3232118); (R-HSA-3232142); (R-HSA-3899300); (R-HSA-4085377); (R-HSA-4090294); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-4655427); (R-HSA-4755510); (R-HSA-5693565); (R-HSA-5693607); (R-HSA-5696395); (R-HSA-8866904); (R-HSA-9615933); (R-HSA-9683610); (R-HSA-9694631); (R-HSA-9735871); (R-HSA-9793242); (R-HSA-9833482); (R-HSA-9843940); (R-HSA-9856649); (R-HSA-9918432); (R-HSA-9918481); (R-HSA-9937850)", "pathway_count": 30, "publication_count": 762, "publication_id_list": 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"class_list": "", "function": "Accepts the ubiquitin-like proteins SUMO1, SUMO2, SUMO3, SUMO4 and SUMO1P1/SUMO5 from the UBLE1A-UBLE1B E1 complex and catalyzes their covalent attachment to other proteins with the help of an E3 ligase such as RANBP2, CBX4 and ZNF451. Can catalyze the formation of poly-SUMO chains. Necessary for sumoylation of FOXL2 and KAT5. Essential for nuclear architecture and chromosome segregation. Sumoylates p53/TP53 at 'Lys-386'. Mediates sumoylation of ERCC6 which is essential for its transcription-coupled nucleotide excision repair activity (PubMed:26620705). Sumoylates SHMT1 at 'Lys-38' or 'Lys-39' leading to RAN-dependent nuclear import of SHMT1 (PubMed:17446168). Also sumoylates TYMS and DHFR (PubMed:18067453)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Knockdown of UBE2I inhibits tumorigenesis and enhances chemosensitivity of cholangiocarcinoma via modulating p27kip1 nuclear export., [RefSeq, PubMed]; Repression of the SUMO-conjugating enzyme UBC9 is associated with lowered double minutes and reduced tumor progression., [RefSeq, PubMed]; Stabilization of Pin1 by USP34 promotes Ubc9 isomerization and protein sumoylation in glioma stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; The Interaction between SARS-CoV-2 Nucleocapsid Protein and UBC9 Inhibits MAVS Ubiquitination by Enhancing Its SUMOylation. Publication Status: Online-Only, [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. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of miRNA-10a-5p promotes tumor progression in cervical cancer by suppressing UBE2I signaling., [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": 3, "reported_mutagensis": 17, "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": "D3DU69;P50550;Q15698;Q59GX1;Q86VB3", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.14.11.69", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.69", "type": "external" }, { "id": "1.14.11.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.66", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.357", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "type": "external" }, { "id": "5.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.2", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.37", "type": "external" }, { "id": "3.4.19.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.2.2.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.29", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.5.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.124", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0008134 transcription factor binding;GO:0019789 SUMO transferase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:1990234 transferase complex;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm", "go_biological_process": "GO:0036211 protein modification process;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007059 chromosome segregation;GO:0016925 protein sumoylation;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 76.5, "record_id": "P63279-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969G3-1", "uniprot_id": [ { "id": "SMCE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969G3", "type": "external" } ], "mass": 46649.0, "length": 411, "protein_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1", "gene_name": "SMARCE1", "organism": "Human", "refseq_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1", "refseq_ac": [ { "id": "NP_003070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003070", "type": "external" } ], "gene_names_uniprotkb": "SMARCE1; BAF57", "gene_names_refseq": "BAF57; CSS5; SMARCE1", "protein_names_uniprotkb": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1; BAF57; BRG1-associated factor 57", "protein_names_refseq": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1; chromatin remodeling complex BRG1-associated factor 57", "tax_id": 9606, "disease": "Coffin-Siris syndrome 5 (Disease Ontology:DOID:0112368); candidiasis (Disease Ontology:DOID:1508); meningioma (Disease Ontology:DOID:3565); familial meningioma (Disease Ontology:DOID:4586)", "pathway": " (hsa:6605); (R-HSA-3214858); (R-HSA-8939243); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9933939); (R-HSA-9933946); (R-HSA-9934037)", "pathway_count": 9, "publication_count": 159, "publication_id_list": 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"class_list": "", "function": "Assembly and interaction of core subunits of BAF complexes and crystal study of the SMARCC1/SMARCE1 binary complex., [RefSeq, PubMed]; BAF57 Is a Potential Determinant of Colorectal Cancer Malignancy., [RefSeq, PubMed]; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Required for the coactivation of estrogen responsive promoters by SWI/SNF complexes and the SRC/p160 family of histone acetyltransferases (HATs). Also specifically interacts with the CoREST corepressor resulting in repression of neuronal specific gene promoters in non-neuronal cells., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; SMARCE1 promotes neuroblastoma tumorigenesis through assisting MYCN-mediated transcriptional activation., [RefSeq, PubMed]; The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KMC1;B4DFR4;C0IMW4;C0IMW5;C0IMW7;H7C3F6;O43539", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0016922 nuclear receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016514 SWI/SNF complex;GO:0071564 npBAF complex;GO:0016363 nuclear matrix", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:2000819 regulation of nucleotide-excision repair;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "Q969G3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01844-1", "uniprot_id": [ { "id": "EWS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01844", "type": "external" } ], "mass": 68478.0, "length": 656, "protein_name": "RNA-binding protein EWS", "gene_name": "EWSR1", "organism": "Human", "refseq_name": "RNA-binding protein EWS isoform 3", "refseq_ac": [ { "id": "NP_001156757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156757", "type": "external" } ], "gene_names_uniprotkb": "EWSR1; EWS", "gene_names_refseq": "EWS-FLI1; EWSR1; EWS", "protein_names_uniprotkb": "RNA-binding protein EWS; EWS oncogene; Ewing sarcoma breakpoint region 1 protein", "protein_names_refseq": "Ewing sarcoma breakpoint region 1; Ewings sarcoma EWS-Fli1 (type 1) oncogene; RNA-binding protein EWS isoform 3; RNA-binding protein EWS", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 6 (Disease Ontology:DOID:0060198); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); Ewing sarcoma (Disease Ontology:DOID:3369); frontotemporal dementia (Disease Ontology:DOID:9255); histiocytoma, Angiomatoid fibrous (MONDO:MONDO:0012809)", "pathway": " (hsa:2130)", "pathway_count": 1, "publication_count": 146, "publication_id_list": "10.1101/2023.09.13.557529;10767297;10949935;11237011;11278906;11313922;15044653;1522903;15884099;16965792;17081983;17172842;17724745;18320585;18477386;18632687;19076070;20068231;20305658;21256132;21647358;23301498;23481700;23555621;24129315;24715725;25576301;25645385;25880248;25892735;26154972;26375851;26768311;26992070;27600516;27655845;27846572;27893789;27903134;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29557506;29632046;29632711;29769354;29786170;30059200;30315122;30397120;30429286;30444036;30484775;30524438;30620550;30779550;30833945;31154438;31217245;31222486;31373491;31492838;31611695;31844290;31848261;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32574038;32870666;32897882;32983136;33091337;33141586;33214551;33293370;33298915;33392160;33465208;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34405274;34509645;34725712;34932366;35008409;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36736606;36963488;37217939;37938771;38639853;38665916;38866368;39198430;39228008;39531497;39990658;40596516;40914422;41018975;7539287;7542907;7700648;7862627;8084618;8307570;8401579;8975699;9121764;9341188;9660765", "class_list": "", "function": "Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Might normally function as a transcriptional repressor (PubMed:10767297). EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes., [UniProtKB, PubMed, PubMed]; Central nervous system embryonal tumors with EWSR1-PLAGL1 rearrangements reclassified as INI-1 deficient tumors at relapse., [RefSeq, PubMed]; Concurrent ependymal and ganglionic differentiation in a subset of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement. Publication Status: Online-Only, [RefSeq, PubMed]; EWS-WT1 fusion isoforms establish oncogenic programs and therapeutic vulnerabilities in desmoplastic small round cell tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Regions in the N-terminal transcriptional activation domain guide the subnuclear partition of EWS protein and contain another but different nuclear localization/retention signal that allows nucleocytoplasmic shuttling of the N-terminal domain., [RefSeq, PubMed]; Superficial Neurocristic EWSR1::FLI1 Fusion Tumor: A Distinctive, Clinically Indolent, S100 Protein/SOX10-Positive Neoplasm., [RefSeq, PubMed]; This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 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, "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": 53, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 53, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 53, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 61, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 5, "glyco_site_count": 53, "binding_glycan_count": 0, "secondary_ac_list": "B0QYK1;Q5THL0;Q92635;Q96FE8;Q96MN4;Q96MX4;Q9BWA2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005516 calmodulin binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "Q01844-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9B4-1", "uniprot_id": [ { "id": "ANR42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9B4", "type": "external" } ], "mass": 43052.0, "length": 389, "protein_name": "Ankyrin repeat domain-containing protein 42", "gene_name": "ANKRD42", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 42 isoform 3", "refseq_ac": [ { "id": "NP_001287901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287901", "type": "external" } ], "gene_names_uniprotkb": "ANKRD42", "gene_names_refseq": "ANKRD42; PPP1R79; SARP", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 42", "protein_names_refseq": "ankyrin repeat domain-containing protein 42 isoform 3; ankyrin repeat domain-containing protein 42; protein phosphatase 1, regulatory subunit 79; several ankyrin repeat protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:338699)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;17123353;27862975;30524438;31154438;31844290;32357974;33592498;38822625", "class_list": "", "function": "Genome-wide CRISPR screening identifies the pivotal role of ANKRD42 in colorectal cancer metastasis through EMT regulation., [RefSeq, PubMed]; The cloning and characterization of a new protein, termed SARP (several ankyrin repeat protein), which is shown to interact with all isoforms of PP1 by a variety of techniques., [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": 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": 5, "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": "Q49A49", "ec_number_list": [], "go_molecular_function": "GO:0051059 NF-kappaB binding;GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8N9B4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61244-1", "uniprot_id": [ { "id": "MAX_HUMAN", "url": "https://www.uniprot.org/uniprot/P61244", "type": "external" } ], "mass": 18275.0, "length": 160, "protein_name": "Protein max", "gene_name": "MAX", "organism": "Human", "refseq_name": "protein max isoform g", "refseq_ac": [ { "id": "NP_001257997", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257997", "type": "external" } ], "gene_names_uniprotkb": "MAX; BHLHD4", "gene_names_refseq": "MAX; PDMCS; bHLHd4", "protein_names_uniprotkb": "Protein max; Class D basic helix-loop-helix protein 4; Myc-associated factor X; bHLHd4", "protein_names_refseq": "MYC associated factor X; class D basic helix-loop-helix protein 4; protein max isoform g", "tax_id": 9606, "disease": "pheochromocytoma (Disease Ontology:DOID:0050771); lung small cell carcinoma (Disease Ontology:DOID:5409); diabetes mellitus (Disease Ontology:DOID:9351); polydactyly-macrocephaly syndrome (MONDO:MONDO:0958227)", "pathway": " (hsa:4149); (R-HSA-1362277); (R-HSA-69202); (R-HSA-69656); (R-HSA-8953750)", "pathway_count": 5, "publication_count": 102, "publication_id_list": "10323868;10375532;10454565;10454584;11171983;11231585;11237011;11535131;11585773;11907280;11959842;12004135;12553908;12730199;12782299;12909625;1312467;1396589;14759258;15014447;15536069;15592455;1566084;15960975;16582612;17001316;17081983;17217336;17531812;17600109;18452278;18562691;18691976;19413330;19651622;2006410;20068231;21406692;21498570;21596310;21685915;22452945;23186163;23954429;24627085;24714562;25576301;25880248;26070438;26992070;27862975;28904123;29493099;29557506;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32983136;33298915;33691108;33912179;33968037;33981976;34171305;34509645;34932366;35051231;35318648;35561310;35580925;36284347;38141607;7479834;7623816;7629134;7735324;7743995;7799941;8018564;8050359;8247525;8426752;8479534;8700224;9115440;9482921;9501179;9520412;9632134;9689056;9704927;9778043;9891042", "class_list": "", "function": "The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]., [RefSeq]; Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MYC or MAD which recognizes the core sequence 5'-CAC[GA]TG-3'. The MYC:MAX complex is a transcriptional activator, whereas the MAD:MAX complex is a repressor. May repress transcription via the recruitment of a chromatin remodeling complex containing H3 'Lys-9' histone methyltransferase activity. Represses MYC transcriptional activity from E-box elements., [UniProtKB, PubMed]; X-ray structures of Myc-Max and Mad-Max recognizing DNA. Molecular bases of regulation by proto-oncogenic transcription factors., [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": 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": 14, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 8, "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": "A6NH73;A8K265;A8K4G4;A8K824;P25912;P52163;Q14803;Q96CY8", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0046983 protein dimerization activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0030425 dendrite;GO:0000785 chromatin;GO:0032993 protein-DNA 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:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "P61244-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27695-1", "uniprot_id": [ { "id": "APEX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P27695", "type": "external" } ], "mass": 35555.0, "length": 318, "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "organism": "Human", "refseq_name": "DNA repair nuclease/redox regulator APEX1", "refseq_ac": [ { "id": "NP_001231178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231178", "type": "external" } ], "gene_names_uniprotkb": "APEX1; APE1; APEX; APE; APX; HAP1; REF1", "gene_names_refseq": "APE1; APEN; APEX1; APEX; APE; APX; HAP1; REF1", "protein_names_uniprotkb": "DNA repair nuclease/redox regulator APEX1; 3.1.11.2; 3.1.21.-; AP endonuclease 1; APE-1; APEN; APEX nuclease; Apurinic-apyrimidinic endonuclease 1; DNA-(apurinic or apyrimidinic site) endonuclease; REF-1; Redox factor-1", "protein_names_refseq": "AP endonuclease class I; AP lyase; APEX nuclease (multifunctional DNA repair enzyme) 1; DNA repair nuclease/redox regulator APEX1; DNA-(apurinic or apyrimidinic site) endonuclease; DNA-(apurinic or apyrimidinic site) lyase; apurinic-apyrimidinic endonuclease 1; apurinic/apyrimidinic (abasic) endonuclease; deoxyribonuclease (apurinic or apyrimidinic); protein REF-1; redox factor-1", "tax_id": 9606, "disease": "spina bifida (Disease Ontology:DOID:0080016); urinary bladder cancer (Disease Ontology:DOID:11054); severe pre-eclampsia (Disease Ontology:DOID:13129); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); status epilepticus (Disease Ontology:DOID:1824); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); cervix carcinoma (Disease Ontology:DOID:2893); breast carcinoma (Disease Ontology:DOID:3459); cervical cancer (Disease Ontology:DOID:4362); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); lung disease (Disease Ontology:DOID:850); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:328); (R-HSA-110357); (R-HSA-110362); (R-HSA-110373); (R-HSA-5651801); (R-HSA-73930); (R-HSA-73933)", "pathway_count": 7, "publication_count": 233, "publication_id_list": "10023679;10364231;10460157;10559261;10667800;10744741;10959839;11118054;11139613;11160897;11237011;11250913;11286553;11340072;11440997;11452037;11465542;11554294;11601988;11687589;11698410;11809897;11832948;11889051;11909973;12200445;12519758;12524539;12727891;1284593;1371347;1380454;1380694;1383925;14633989;15113441;15135726;15193131;15380100;15479784;15561706;15592455;15607977;15713479;15731342;15823533;15831793;15942031;16195237;1627644;16278211;16464020;16617147;17148573;1719477;1722334;17403694;17531525;17537817;17548475;17991898;18160138;18179823;18439621;18505345;18579163;18701435;18805789;18809583;19123919;19188445;19219073;19223468;19329425;19401441;19608861;19778542;19934257;20068230;20112406;20231292;20473298;20573551;20699270;21183466;21198260;21398629;21496894;21561390;21727086;21762700;22433848;22952233;23038158;23065211;23143180;23186163;23272074;23301498;23430444;23479135;24076439;24079850;24254302;24349526;24414702;24714562;24715725;24729390;24893568;25023401;25024628;25086253;25234162;25268610;25292033;25384510;25418920;25576301;25645385;25880248;25945024;26146106;26154972;26257461;26375851;26760506;26811146;26929215;26992070;27022219;27042118;27230458;27248666;27539671;27600516;27846572;27862975;27920218;28063628;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30524438;30779550;30833945;31217245;31844290;31848261;31998317;32119511;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34509645;34725712;34931806;35051231;35083852;35138101;35318648;35561310;35580925;36010968;36284347;37938771;38236479;38418695;38436697;38554110;38665916;38791183;40596516;6278323;7516064;7608159;7915006;8003475;8086453;8264597;8355688;8621488;8663274;8932375;8995436;9108029;9200707;9207062;9214649;9351835;9560228;9649448;9685411;9724657;9780000;9804757;9804798;9804799", "class_list": "", "function": "APE1 inhibition enhances ferroptotic cell death and contributes to hepatocellular carcinoma therapy., [RefSeq, PubMed]; Apurinic/apyrimidinic endodeoxyribonuclease 1 (APE1) promotes stress granule formation via YBX1 phosphorylation in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Investigation of APE1 and OGG1 expression in chronic hemodialysis patients. Publication Status: Online-Only, [RefSeq, PubMed]; Live-cell imaging of human apurinic/apyrimidinic endonuclease 1 in the nucleus and nucleolus using a chaperone@DNA probe., [RefSeq, PubMed]; Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 are DNA repair and redox regulation of transcriptional factors (PubMed:11118054, PubMed:11452037, PubMed:15831793, PubMed:18439621, PubMed:18579163, PubMed:21762700, PubMed:24079850, PubMed:8355688, PubMed:9108029, PubMed:9560228). Functions as an apurinic/apyrimidinic (AP) endodeoxyribonuclease in the base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends. Also incises at AP sites in the DNA strand of DNA/RNA hybrids, single-stranded DNA regions of R-loop structures, and single-stranded RNA molecules (PubMed:15380100, PubMed:16617147, PubMed:18439621, PubMed:19123919, PubMed:19188445, PubMed:19934257, PubMed:20699270, PubMed:21762700, PubMed:24079850, PubMed:8932375, PubMed:8995436, PubMed:9804799). Operates at switch sites of immunoglobulin (Ig) constant regions where it mediates Ig isotype class switch recombination. Processes AP sites induced by successive action of AICDA and UNG. Generates staggered nicks in opposite DNA strands resulting in the formation of double-strand DNA breaks that are finally resolved via non-homologous end joining repair pathway (By similarity). Has 3'-5' exodeoxyribonuclease activity on mismatched deoxyribonucleotides at the 3' termini of nicked or gapped DNA molecules during short-patch BER (PubMed:11832948, PubMed:1719477). Possesses DNA 3' phosphodiesterase activity capable of removing lesions (such as phosphoglycolate and 8-oxoguanine) blocking the 3' side of DNA strand breaks (PubMed:15831793, PubMed:7516064). Also acts as an endoribonuclease involved in the control of single-stranded RNA metabolism. Plays a role in regulating MYC mRNA turnover by preferentially cleaving in between UA and CA dinucleotides of the MYC coding region determinant (CRD). In association with NMD1, plays a role in the rRNA quality control process during cell cycle progression (PubMed:19188445, PubMed:19401441, PubMed:21762700). Acts as a loading factor for POLB onto non-incised AP sites in DNA and stimulates the 5'-terminal deoxyribose 5'-phosphate (dRp) excision activity of POLB (PubMed:9207062). Exerts reversible nuclear redox activity to regulate DNA binding affinity and transcriptional activity of transcriptional factors by controlling the redox status of their DNA-binding domain, such as the FOS/JUN AP-1 complex after exposure to IR (PubMed:10023679, PubMed:11118054, PubMed:11452037, PubMed:18579163, PubMed:8355688, PubMed:9108029). Involved in calcium-dependent down-regulation of parathyroid hormone (PTH) expression by binding to negative calcium response elements (nCaREs). Together with HNRNPL or the dimer XRCC5/XRCC6, associates with nCaRE, acting as an activator of transcriptional repression (PubMed:11809897, PubMed:14633989, PubMed:8621488). May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation (PubMed:21496894). Stimulates the YBX1-mediated MDR1 promoter activity, when acetylated at Lys-6 and Lys-7, leading to drug resistance (PubMed:18809583). Plays a role in protection from granzyme-mediated cellular repair leading to cell death (PubMed:18179823). Binds DNA and RNA. Associates, together with YBX1, on the MDR1 promoter. Together with NPM1, associates with rRNA (PubMed:19188445, PubMed:19401441, PubMed:20699270)., [UniProtKB, 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]; Nanoscale Interaction of Endonuclease APE1 with DNA. Publication Status: Online-Only, [RefSeq, PubMed]; The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019]., [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": 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": 7, "reported_mutagensis": 38, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 15, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q969L5;Q99775", "ec_number_list": [ { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.2.2.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.21", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.2.2.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.29", "type": "external" }, { "id": "3.2.1.143", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.143", "type": "external" } ], "go_molecular_function": "GO:0008296 3'-5'-DNA exonuclease activity;GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0006287 base-excision repair, gap-filling;GO:0044029 positive regulation of gene expression via chromosomal CpG island demethylation;GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "P27695-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19021-1", "uniprot_id": [ { "id": "AMD_HUMAN", "url": "https://www.uniprot.org/uniprot/P19021", "type": "external" } ], "mass": 108332.0, "length": 973, "protein_name": "Peptidyl-glycine alpha-amidating monooxygenase", "gene_name": "PAM", "organism": "Human", "refseq_name": "peptidyl-glycine alpha-amidating monooxygenase isoform a precursor", "refseq_ac": [ { "id": "NP_000910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000910", "type": "external" } ], "gene_names_uniprotkb": "PAM", "gene_names_refseq": "PAL; PAM-1; PAM; PHM", "protein_names_uniprotkb": "Peptidyl-glycine alpha-amidating monooxygenase; PAL; PAM; Peptidylamidoglycolate lyase", "protein_names_refseq": "pancreatic peptidylglycine alpha-amidating monooxygenase; peptidyl alpha-amidating enzyme; peptidyl-alpha-hydroxyglycine alpha-amidating lyase; peptidyl-glycine alpha-amidating monooxygenase isoform a precursor; peptidylamidoglycolate lyase; peptidylglycine 2-hydroxylase; peptidylglycine alpha-hydroxylating monooxygenase", "tax_id": 9606, "disease": "hypothyroidism (Disease Ontology:DOID:1459); prostate adenocarcinoma (Disease Ontology:DOID:2526)", "pathway": " (hsa:5066)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10574929;11237011;12699694;1575450;17081983;18669648;21406692;21654843;2207077;23186163;23481700;2357221;23584533;25502872;25563370;25576301;25813380;26992070;27600516;27846572;27920218;28218747;28228285;28467828;28649982;28832583;28904123;29242379;29317506;29393594;29437277;29557506;29774024;29786170;30315122;30429286;30459171;31020640;31217245;31844290;32157095;32265295;32350084;32488085;32938616;32983136;33197464;33592498;33912179;33968037;34171305;34357683;34433824;34561969;34932366;35051231;35154160;35251023;35394266;35561310;35580925;36010968;36215666;36241641;36284347;37812053;37938771;38075079;7999037;8144680", "class_list": "", "function": "Bifunctional enzyme that catalyzes amidation of the C-terminus of proteins (PubMed:12699694, PubMed:2357221). Alpha-amidation is present at the C-terminus of many endocrine hormones and neuropeptides and is required for their activity (PubMed:1575450). C-terminal amidation also takes place in response to protein fragmentation triggered by oxidative stress, promoting degradation of amidated protein fragments by the proteasome (PubMed:2207077). Alpha-amidation involves two sequential reactions, both of which are catalyzed by separate catalytic domains of the enzyme (PubMed:12699694). The first step, catalyzed by peptidyl alpha-hydroxylating monooxygenase (PHM) domain, is the copper-, ascorbate-, and O2- dependent stereospecific hydroxylation (with S stereochemistry) at the alpha-carbon (C-alpha) of the C-terminal glycine of the peptidylglycine substrate (PubMed:12699694). The second step, catalyzed by the peptidylglycine amidoglycolate lyase (PAL) domain, is the zinc-dependent cleavage of the N-C-alpha bond, producing the alpha-amidated peptide and glyoxylate (PubMed:12699694). Similarly, catalyzes the two-step conversion of an N-fatty acylglycine to a primary fatty acid amide and glyoxylate (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mitochondrial Oxidative Stress Induces Rapid Intermembrane Space/Matrix Translocation of Apurinic/Apyrimidinic Endonuclease 1 Protein through TIM23 Complex., [RefSeq, PubMed]; PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas. Publication Status: Online-Only, [RefSeq, PubMed]; PAM variants were associated with type 2 diabetes mellitus risk in the Chinese population., [RefSeq, PubMed]; Peptidylglycine alpha-amidating monooxygenase and adrenomedullin measurement in patients with hepatic cirrhosis., [RefSeq, PubMed]; This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]., [RefSeq]", "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": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A6NMR0;A8K293;O43211;O95080;Q16252;Q16253;Q54A45;Q86U53;Q8WVC7;Q9UCG0", "ec_number_list": [ { "id": "1.14.17.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.17.3", "type": "external" }, { "id": "4.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:4.3.2.5", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0004504 peptidylglycine monooxygenase activity;GO:0004598 peptidylamidoglycolate lyase activity;GO:0005507 copper ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0030658 transport vesicle membrane;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0010043 response to zinc ion;GO:0034599 cellular response to oxidative stress;GO:0001519 peptide amidation;GO:0062112 fatty acid primary amide biosynthetic process;GO:0006518 peptide metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P19021-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10827-1", "uniprot_id": [ { "id": "THA_HUMAN", "url": "https://www.uniprot.org/uniprot/P10827", "type": "external" } ], "mass": 54816.0, "length": 490, "protein_name": "Thyroid hormone receptor alpha", "gene_name": "THRA", "organism": "Human", "refseq_name": "thyroid hormone receptor alpha isoform 3", "refseq_ac": [ { "id": "NP_001177847", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177847", "type": "external" } ], "gene_names_uniprotkb": "THRA; EAR7; ERBA1; NR1A1; THRA1; THRA2", "gene_names_refseq": "AR7; CHNG6; EAR7; ERB-T-1; ERBA1; ERBA; NR1A1; THRA1; THRA2; THRA; THRalpha1; THRalpha2; THRalpha; TRalpha1; TRalpha2; TRalpha; c-ERBA-1; c-erbA", "protein_names_uniprotkb": "Thyroid hormone receptor alpha; EAR-7; Nuclear receptor subfamily 1 group A member 1; V-erbA-related protein 7; c-erbA-1; c-erbA-alpha", "protein_names_refseq": "EAR-7; ERBA-related 7; V-erbA-related protein 7; c-erbA protooncogene; c-erbA-alpha; nuclear receptor subfamily 1 group A member 1; thyroid hormone receptor alpha 1; thyroid hormone receptor alpha isoform 3; thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian); triiodothyronine receptor", "tax_id": 9606, "disease": "congenital nongoitrous hypothyroidism 6 (Disease Ontology:DOID:0070128); thyroid hormone resistance syndrome (Disease Ontology:DOID:11633); hypothyroidism (Disease Ontology:DOID:1459); breast cancer (Disease Ontology:DOID:1612); renal cell carcinoma (Disease Ontology:DOID:4450)", "pathway": " (hsa:7067); (R-HSA-383280)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10235266;10542397;10567404;11237011;11865025;12699376;14673100;15175151;15896744;16751179;16781732;18030323;18237438;1850510;19926848;20078863;22168587;2464749;24969835;2539258;25670821;26037512;29493099;30429286;31154438;31844290;32157095;32488085;3357890;34930399;36217307;3672126;3684612;37217939;37634007;38654093;39337374;8910441;9267036;9627117;9653119", "class_list": "", "function": "Does not bind thyroid hormone and functions as a weak dominant negative inhibitor of thyroid hormone action., [UniProtKB, PubMed]; Low thyroid hormone receptor alpha-2 (THRalpha-2) tumor expression is associated with unfavorable tumor characteristics and high breast cancer mortality. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; RNA Sequencing Reveals a Strong Predominance of THRA Splicing Isoform 2 in the Developing and Adult Human Brain. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of the THRA gene, encoding the thyroid hormone nuclear receptor TRalpha1, in intestinal lesions., [RefSeq, PubMed]; Spatiotemporal expression of thyroid hormone transporter MCT8 and THRA mRNA in human cerebral organoids recapitulating first trimester cortex development. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; Thyroid hormone receptor alpha1: a novel regulator of thyroid cancer cell differentiation., [RefSeq, 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, "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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K3B5;P21205;Q8N6A1;Q96H73", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0044877 protein-containing complex binding;GO:0070324 thyroid hormone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0017055 negative regulation of RNA polymerase II transcription preinitiation complex assembly;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P10827-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96R06-1", "uniprot_id": [ { "id": "SPAG5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96R06", "type": "external" } ], "mass": 134422.0, "length": 1193, "protein_name": "Sperm-associated antigen 5", "gene_name": "SPAG5", "organism": "Human", "refseq_name": "sperm-associated antigen 5", "refseq_ac": [ { "id": "NP_006452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006452", "type": "external" } ], "gene_names_uniprotkb": "SPAG5", "gene_names_refseq": "DEEPEST; MAP126; SPAG5; hMAP126", "protein_names_uniprotkb": "Sperm-associated antigen 5; Astrin; Deepest; MAP126; Mitotic spindle-associated protein p126", "protein_names_refseq": "astrin; mitotic spindle associated protein p126; mitotic spindle coiled-coil related protein; sperm-associated antigen 5", "tax_id": 9606, "disease": "cervical cancer (Disease Ontology:DOID:4362)", "pathway": " (hsa:10615)", "pathway_count": 1, "publication_count": 105, "publication_id_list": "11237011;11549262;11724960;12356910;16546135;16565220;16964243;17525332;17664331;18055457;18361916;18669648;18691976;19007248;19197158;19691289;20068231;20934997;21402792;22965910;23186163;23301498;23481700;23953116;24366607;24424245;24714562;24715725;25009111;25418920;25576301;25880248;26154972;26297806;26375851;26728094;26811146;26929215;26992070;27325694;27462074;27600516;27846572;27920218;28228285;28411811;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;30315122;30410026;30484775;30833945;31217245;31530632;31844290;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33288550;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34509645;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36580660;37539742;37929348;38807081;39276045;39302247;40307207;40914422", "class_list": "", "function": "Essential component of the mitotic spindle required for normal chromosome segregation and progression into anaphase (PubMed:11724960, PubMed:12356910, PubMed:27462074). Required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:17664331, PubMed:27462074). In complex with SKAP, promotes stable microtubule-kinetochore attachments. May contribute to the regulation of separase activity. May regulate AURKA localization to mitotic spindle, but not to centrosomes and CCNB1 localization to both mitotic spindle and centrosomes (PubMed:18361916, PubMed:21402792). Involved in centriole duplication. Required for CDK5RAP2, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806). In non-mitotic cells, upon stress induction, inhibits mammalian target of rapamycin complex 1 (mTORC1) association and recruits the mTORC1 component RPTOR to stress granules (SGs), thereby preventing mTORC1 hyperactivation-induced apoptosis (PubMed:23953116). May enhance GSK3B-mediated phosphorylation of other substrates, such as MAPT/TAU (PubMed:18055457)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HMap126 is abundantly expressed in testis and localized in mitotic spindle and may be involved in the functional and dynamic regulation of mitotic spindles., [RefSeq, PubMed]; SPAG5 deficiency activates autophagy to reduce atherosclerotic plaque formation in ApoE[-/-] mice. Publication Status: Online-Only, [RefSeq, PubMed]; SPAG5 promotes the proliferation, migration, invasion, and epithelial-mesenchymal transformation of colorectal cancer cells by activating the PI3K/AKT signaling pathway., [RefSeq, PubMed]; SPAG5, the upstream protein of Wnt and the target of curcumin, inhibits hepatocellular carcinoma., [RefSeq, PubMed]; These findings suggest that the silencing of astrin induce a p53-dependent apoptosis and has an additive effect on paclitaxel treatment., [RefSeq, PubMed]; This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008]., [RefSeq]; [Biological role of SPAG5 in the malignant proliferation of gastric cancer cells]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 43, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O95213;Q9BWE8;Q9NT17;Q9UFE6", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0035253 ciliary rootlet;GO:0016604 nuclear body;GO:0000776 kinetochore", "go_biological_process": "GO:0090235 regulation of metaphase plate congression;GO:1905832 positive regulation of spindle assembly;GO:0007059 chromosome segregation;GO:0051301 cell division;GO:0051988 regulation of attachment of spindle microtubules to kinetochore", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q96R06-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16763-1", "uniprot_id": [ { "id": "UBE2S_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16763", "type": "external" } ], "mass": 23845.0, "length": 222, "protein_name": "Ubiquitin-conjugating enzyme E2 S", "gene_name": "UBE2S", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 S", "refseq_ac": [ { "id": "NP_055316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055316", "type": "external" } ], "gene_names_uniprotkb": "UBE2S; E2EPF; SW-cl.73", "gene_names_refseq": "E2-EPF; E2EPF; EPF5; UBE2S", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 S; 2.3.2.23; E2 ubiquitin-conjugating enzyme S; E2-EPF; Ubiquitin carrier protein S; Ubiquitin-conjugating enzyme E2-24 kDa; Ubiquitin-conjugating enzyme E2-EPF5; Ubiquitin-protein ligase S", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme S; E2-EPF5; ubiquitin carrier protein S; ubiquitin conjugating enzyme E2S; ubiquitin-conjugating enzyme E2 S; ubiquitin-conjugating enzyme E2-24 kDa; ubiquitin-conjugating enzyme E2-EPF5; ubiquitin-protein ligase S", "tax_id": 9606, "disease": "", "pathway": " (hsa:27338); (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-8866652); (R-HSA-9687136); (R-HSA-983168)", "pathway_count": 20, "publication_count": 190, "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;1379239;14657031;14672932;14679213;14734113;14743218;15014503;15029244;15224091;15224092;15469821;15571818;15678131;15737063;15774718;16142244;16413484;16595681;16626623;16648845;16819549;16824194;16849449;16954532;17187060;17234884;17485488;17580310;17597759;18267069;18353650;18411265;18485873;18555777;18555778;18662542;18669648;18780286;19028597;19083192;19352404;19452197;19489725;19805069;19820702;19822757;19851334;19874575;19896182;19940261;20028861;20061386;20068231;20351173;20452968;20622874;21325273;21670496;2183031;21979375;22084091;22178396;22424782;22496338;2261476;22634325;22885700;23186163;23603117;23846687;23851460;2405250;24706756;24714562;24715725;25231993;25418920;25576301;26154972;26222030;26235645;26828794;26929215;26992070;27249176;27259151;27593939;27910872;28063628;28228285;28832583;28904123;29242379;29493099;29557506;29786170;31092671;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;34171305;34211107;34405274;34509645;34932366;35051231;35561310;35580925;35658829;35863455;36010968;36241641;37422473;37791471;38597436;6277905;6305978;7851534;8010951;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9029102;9380723;9521656;9635433;9668046;9892021", "class_list": "", "function": "Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:19820702, PubMed:19822757, PubMed:22496338, PubMed:27259151). Catalyzes 'Lys-11'-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis (PubMed:19820702, PubMed:19822757, PubMed:27259151, PubMed:27910872). Acts by specifically elongating 'Lys-11'-linked polyubiquitin chains initiated by the E2 enzyme UBE2C/UBCH10 on APC/C substrates, enhancing the degradation of APC/C substrates by the proteasome and promoting mitotic exit (PubMed:19820702, PubMed:19822757, PubMed:27259151). Also acts by elongating ubiquitin chains initiated by the E2 enzyme UBE2D1/UBCH5 in vitro; it is however unclear whether UBE2D1/UBCH5 acts as an E2 enzyme for the APC/C in vivo. Also involved in ubiquitination and subsequent degradation of VHL, resulting in an accumulation of HIF1A (PubMed:16819549). In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, except 'Lys-48'-linked polyubiquitination (PubMed:20061386, PubMed:20622874)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; As a potential predictor of pan-cancer, UBE2S is related to tumor-associated macrophage infiltration., [RefSeq, PubMed]; E2-EPF UCP expression induced by growth factors or serum increased HIF-1alpha protein level under non-hypoxic conditions, suggesting that the Egr-1/SRF-UCP-VHL pathway is in part responsible for the increased HIF-1alpha protein level, [RefSeq, PubMed]; Knockout of UBE2S inhibits the proliferation of gastric cancer cells and induces apoptosis by FAS-mediated death receptor pathway., [RefSeq, PubMed]; Results suggest that UCP was significantly associated with poor prognosis of esophageal cancer and may be a new molecular target for therapeutic intervention for esophageal squamous cell carcinoma., [RefSeq, PubMed]; This gene encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein is able to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme-dependent manner, a characteristic property of ubiquitin carrier proteins. [provided by RefSeq, Jul 2008]., [RefSeq]; UBE2S functions with the APC/C in a two-step mechanism to control substrate ubiquitylation that is essential for mitotic exit after prolonged SAC activation, providing a new model for APC/C function in human cells, [RefSeq, PubMed]; UBE2S interacting with TRIM21 mediates the K11-linked ubiquitination of LPP to promote the lymphatic metastasis of bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; UBE2S promotes the development of ovarian cancer by promoting PI3K/AKT/mTOR signaling pathway to regulate cell cycle and apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; [High expression of UBE2S promotes progression of hepatocellular carcinoma by increasing cancer cell stemness]., [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": 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": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "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": "Q9BTC1", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "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": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.3.2.34", "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": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004842 ubiquitin-protein transferase activity;GO:0061631 ubiquitin conjugating enzyme activity;GO:0010997 anaphase-promoting complex binding;GO:0019787 ubiquitin-like protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005680 anaphase-promoting complex", "go_biological_process": "GO:0036211 protein modification process;GO:0051301 cell division;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010458 exit from mitosis;GO:0031145 anaphase-promoting complex-dependent catabolic process", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "Q16763-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03405-1", "uniprot_id": [ { "id": "UPAR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03405", "type": "external" } ], "mass": 36978.0, "length": 335, "protein_name": "Urokinase plasminogen activator surface receptor", "gene_name": "PLAUR", "organism": "Human", "refseq_name": "urokinase plasminogen activator surface receptor isoform 4 precursor", "refseq_ac": [ { "id": "NP_001287966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287966", "type": "external" } ], "gene_names_uniprotkb": "PLAUR; MO3; UPAR", "gene_names_refseq": "CD87; PLAUR; U-PAR; UPAR; URKR", "protein_names_uniprotkb": "Urokinase plasminogen activator surface receptor; Monocyte activation antigen Mo3; U-PAR; uPAR", "protein_names_refseq": "monocyte activation antigen Mo3; u-plasminogen activator receptor form 2; urokinase plasminogen activator surface receptor isoform 4 precursor; urokinase plasminogen activator surface receptor; urokinase-type plasminogen activator (uPA) receptor", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); alcohol-associated liver disease (Disease Ontology:DOID:0070658); pre-eclampsia (Disease Ontology:DOID:10591); Lyme disease (Disease Ontology:DOID:11729); cardiovascular system disease (Disease Ontology:DOID:1287); disease of cellular proliferation (Disease Ontology:DOID:14566); status epilepticus (Disease Ontology:DOID:1824); hepatitis B (Disease Ontology:DOID:2043); pulmonary tuberculosis (Disease Ontology:DOID:2957); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); melioidosis (Disease Ontology:DOID:5052); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); myocardial infarction (Disease Ontology:DOID:5844); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); Crohn's disease (Disease Ontology:DOID:8778); type 2 diabetes mellitus (Disease Ontology:DOID:9352); meningitis (Disease Ontology:DOID:9471); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5329); (R-HSA-162791); (R-HSA-6798695); (R-HSA-75205); (R-HSA-9855719); (R-HSA-9970672)", "pathway_count": 6, "publication_count": 117, "publication_id_list": "10.1101/2023.09.13.557529;10636902;1066663;11051819;11204562;11237011;11483512;11830581;11986212;12007600;12376466;12802054;12944405;1316922;134998;14691562;14764453;15053742;15677461;15861141;16456079;1689240;17548516;17666018;1829461;1846368;18718938;21304106;21544310;2156852;2166055;21683246;22285761;23090970;2318848;23193360;23483454;23486467;23650620;24190977;2440681;24900876;2496749;2503541;25168639;2521625;2544876;2578463;2579948;26992070;28832583;28849762;29242379;2935528;29519898;2962641;3011081;3023326;3090045;3099750;31154438;31844290;31848261;32354367;32387766;32488085;32613288;32897882;32938616;32983136;33298915;33392160;33592498;33968037;34405274;34509645;3484703;35051231;35289036;35494241;35580925;3756141;38042098;38073374;38200448;38396677;38665916;38669542;3877053;3886654;4054110;40596516;4178758;4703226;500690;6203908;6433976;6448849;6604055;7199524;7391081;7539799;7605992;8049431;8131971;8195709;8392005;8394346;8692836;8710908;874082;9030717;9356492;9414276;9427705;9581823;9886297", "class_list": "glycogene", "function": "Acts as a receptor for urokinase plasminogen activator. Plays a role in localizing and promoting plasmin formation. Mediates the proteolysis-independent signal transduction activation effects of U-PA. It is subject to negative-feedback regulation by U-PA which cleaves it into an inactive form., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Circulating miR-10b, soluble urokinase-type plasminogen activator receptor, and plasminogen activator inhibitor-1 as predictors of non-small cell lung cancer progression and treatment response., [RefSeq, PubMed]; GPI-anchored receptor that recruits and activates the urokinase-type plasminogen activator (uPA) at the cell surface. Activated uPA converts plasminogen into plasmin, initiating extracellular matrix degradation and remodeling (PubMed:1689240, PubMed:15677461). Also binds the extracellular matrix protein vitronectin, promoting cell-matrix adhesion and indirectly integrin signaling (PubMed:17548516, PubMed:25168639, PubMed:28849762). This dual interaction coordinates dynamic changes in cell migration, proliferation, and tissue remodeling (PubMed:28849762)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Gene Association Study of the Urokinase Plasminogen Activator and Its Receptor Gene in Alzheimer's Disease., [RefSeq, PubMed]; Soluble urokinase plasminogen activator receptor in vaginally collected amniotic fluid predicting fetal inflammatory response syndrome: a prospective cohort study. Publication Status: Online-Only, [RefSeq, PubMed]; Soluble urokinase plasminogen activator receptor, platelet aggregation, and carotid plaque thickness in diabetes: A cross-sectional analysis., [RefSeq, PubMed]; This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]., [RefSeq]; UPAR (PLAUR) Marks Two Intra-Tumoral Subtypes of Glioblastoma: Insights from Single-Cell RNA Sequencing. 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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 442, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring; prognostic", "glycan_count": 4, "disease_count": 21, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K409;Q12876;Q15845;Q16887;Q6IB52;Q9BWT0;Q9NYC8;Q9UD69;Q9UEA6;Q9UM92;Q9UMV0", "ec_number_list": [], "go_molecular_function": "GO:0030377 urokinase plasminogen activator receptor activity;GO:0005102 signaling receptor binding;GO:0019899 enzyme binding;GO:0019904 protein domain specific binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface", "go_biological_process": "GO:0038195 urokinase plasminogen activator signaling pathway;GO:0001934 positive regulation of protein phosphorylation;GO:0006935 chemotaxis;GO:0007165 signal transduction;GO:0030155 regulation of cell adhesion", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q03405-1", "record_type": "protein", "filter_code": "0101000.1000111.100000.000000000001000000.1100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12906-1", "uniprot_id": [ { "id": "ILF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12906", "type": "external" } ], "mass": 95338.0, "length": 894, "protein_name": "Interleukin enhancer-binding factor 3", "gene_name": "ILF3", "organism": "Human", "refseq_name": "interleukin enhancer-binding factor 3 isoform e", "refseq_ac": [ { "id": "NP_001131145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131145", "type": "external" } ], "gene_names_uniprotkb": "ILF3; DRBF; MPHOSPH4; NF90", "gene_names_refseq": "CBTF; DRBF; DRBP76; ILF3; MMP4; MPHOSPH4; MPP4110; MPP4; NF-AT-90; NF110b; NF110; NF90a; NF90b; NF90ctv; NF90c; NF90; NFAR-1; NFAR-2; NFAR110; NFAR2; NFAR90; NFAR; TCP110; TCP80", "protein_names_uniprotkb": "Interleukin enhancer-binding factor 3; DRBP76; Double-stranded RNA-binding protein 76; M-phase phosphoprotein 4; MPP4; NF-AT-90; NFAR; Nuclear factor associated with dsRNA; Nuclear factor of activated T-cells 90 kDa; TCP80; Translational control protein 80", "protein_names_refseq": "M phase phosphoprotein 4, nuclear factor associated with DS RNA; M-phase phosphoprotein 4; double-stranded RNA-binding protein, 76 kD; dsRNA binding protein NFAR-2/MPP4; interleukin enhancer binding factor 3, 90kDa; interleukin enhancer binding factor 3, 90kD; interleukin enhancer-binding factor 3 isoform e; nuclear factor associated with dsRNA; nuclear factor of activated T-cells 110 kDa; nuclear factor of activated T-cells 90 kDa; nuclear factor of activated T-cells, 90 kD; translational control protein 80", "tax_id": 9606, "disease": "", "pathway": " (hsa:3609); (R-HSA-9762293); (R-HSA-9833482)", "pathway_count": 3, "publication_count": 304, "publication_id_list": "10082513;10348343;10400669;10574923;10607473;10620360;10626894;10648614;10749851;10848580;10866685;11096080;11134010;11152499;11156368;11161820;11167023;11237011;11238103;11238927;11278865;11313968;11337501;11350938;11438536;11438540;11500375;11739746;11777942;11781817;11909525;11939789;11985496;12231563;12397061;12429849;12882984;1373135;14570900;14585331;14731398;15229216;15254228;15299030;15302935;15699330;15737233;15752359;15907845;16094384;16179258;16179259;16373505;16431927;16600570;16717090;16793922;1695551;16964243;16982605;17079286;17081983;17196820;17287340;17289661;17890166;17924679;17932509;18077418;18096616;18097023;18452278;18669648;18707149;18767875;18802091;18835251;18957415;19029303;19229320;19413330;19415658;19416861;19608861;19651622;19664994;19664995;19690332;19710021;19733181;19804757;19838063;20058876;20068230;20068231;20305658;20395957;20519500;20685959;20870937;21072047;21123651;21294215;21401756;21406692;21518807;21636578;21740066;21937648;21978664;21994559;22121020;22214662;22227038;2247437;22986343;23084476;23186163;23229543;23301498;23481700;23555621;23732991;24130169;24275569;24347309;24366607;24623135;24659800;24715725;24753571;24810778;25114211;25576301;25645385;25653431;25810538;25848059;25892735;26154972;26240280;26375851;26432638;26446704;26488609;26716879;26768311;26817845;26891316;26992070;27208315;27269119;27423063;27543614;27600516;27846572;27862975;27893789;27920218;27974558;28069888;28167698;28218747;28228285;28281686;28446606;28510447;28514659;28625552;28765891;28832583;28834231;28904123;29170442;29175459;29231267;29242379;29269046;29296180;29348664;29394925;29395325;29437277;29440070;29493099;29501855;29508533;29557506;29632711;29642003;29769354;29786170;29930882;30174290;30192525;30315122;30379171;30397120;30410026;30429286;30444036;30484775;30524438;30770398;30779550;31031002;31092671;31154438;31217245;31530632;31772275;31844290;31848261;31937595;31998317;32093270;32119511;32123579;32157095;32161166;32350084;32357974;32387766;32463580;32488085;32502341;32522876;32716602;32801355;32897882;32938616;32983136;33141586;33214551;33298915;33465208;33537174;33592498;33691108;33717175;33808629;33911136;33912179;33936100;33968037;33981976;34019948;34087483;34110282;34171305;34174402;34211107;34229054;34509645;34561969;34725712;34974812;35051231;35083852;35251023;35318648;35561310;35580925;35685460;35947956;36010968;36215666;36241641;36284347;36581221;36712380;37127961;37132584;37217939;37337223;37938771;38395749;38583797;38665916;40596516;40914422;7491766;7515177;7519613;7545299;7565688;7693978;7737357;7903669;8576172;8576179;8661426;8810342;8885239;8910500;9034343;9079663;9442054;9521856;9528799;9687506;9737981;9819388;9920933", "class_list": "", "function": "(Microbial infection) Plays a positive role in HIV-1 virus production by binding to and thereby stabilizing HIV-1 RNA, together with ILF3., [UniProtKB, PubMed]; Astragaloside IV promotes keratinocyte proliferation and migration through upregulating lncRNA H19 recruited ILF3 to enhance the stability of CDK4 mRNA., [RefSeq, PubMed]; Deficiency of smooth muscle cell ILF3 alleviates intimal hyperplasia via HMGB1 mRNA degradation-mediated regulation of the STAT3/DUSP16 axis., [RefSeq, PubMed]; PSMD3-ILF3 signaling cascade drives lung cancer cell proliferation and migration. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein that plays an essential role in the biogenesis of circular RNAs (circRNAs) which are produced by back-splicing circularization of pre-mRNAs. Within the nucleus, promotes circRNAs processing by stabilizing the regulatory elements residing in the flanking introns of the circularized exons. Plays thereby a role in the back-splicing of a subset of circRNAs (PubMed:28625552). As a consequence, participates in a wide range of transcriptional and post-transcriptional processes. Binds to poly-U elements and AU-rich elements (AREs) in the 3'-UTR of target mRNAs (PubMed:14731398). Upon viral infection, ILF3 accumulates in the cytoplasm and participates in the innate antiviral response (PubMed:21123651, PubMed:34110282). Mechanistically, ILF3 becomes phosphorylated and activated by the double-stranded RNA-activated protein kinase/PKR which releases ILF3 from cellular mature circRNAs. In turn, unbound ILF3 molecules are able to interact with and thus inhibit viral mRNAs (PubMed:21123651, PubMed:28625552)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Role of ATF3 triggering M2 macrophage polarization to protect against the inflammatory injury of sepsis through ILF3/NEAT1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein (NF90, ILF3) forms a heterodimer with a 45 kDa transcription factor (NF45, ILF2) required for T-cell expression of interleukin 2. This complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 43, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K6F2;G5E9M5;O43409;Q6P1X1;Q86XY7;Q99544;Q99545;Q9BZH4;Q9BZH5;Q9NQ95;Q9NQ96;Q9NQ97;Q9NQ98;Q9NQ99;Q9NQA0;Q9NQA1;Q9NQA2;Q9NRN2;Q9NRN3;Q9NRN4;Q9UMZ9;Q9UN00;Q9UN84;Q9UNA2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0001618 virus receptor activity;GO:0003725 double-stranded RNA binding;GO:0003727 single-stranded RNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation;GO:0051607 defense response to virus;GO:0045071 negative regulation of viral genome replication;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 30.9, "record_id": "Q12906-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZS5-1", "uniprot_id": [ { "id": "OFCC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZS5", "type": "external" } ], "mass": 26754.0, "length": 231, "protein_name": "Orofacial cleft 1 candidate gene 1 protein", "gene_name": "OFCC1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OFCC1; MRDS1", "gene_names_refseq": "", "protein_names_uniprotkb": "Orofacial cleft 1 candidate gene 1 protein; Orofacial clefting chromosomal breakpoint region candidate 1 protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "15218257;23455924;29557506", "class_list": "", "function": "", "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": 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": "Q7Z2X5;Q8IUL6;Q8IUM1;Q8IZR9;Q8IZS1;Q8IZS3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8IZS5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15257-1", "uniprot_id": [ { "id": "PTPA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15257", "type": "external" } ], "mass": 40668.0, "length": 358, "protein_name": "Serine/threonine-protein phosphatase 2A activator", "gene_name": "PTPA", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A activator isoform f", "refseq_ac": [ { "id": "NP_001258761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258761", "type": "external" } ], "gene_names_uniprotkb": "PTPA; PPP2R4", "gene_names_refseq": "PARK25; PP2A; PPP2R4; PR53; PTPA", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A activator; 5.2.1.8; PP2A, subunit B', PR53 isoform; PTPA; Phosphotyrosyl phosphatase activator; Serine/threonine-protein phosphatase 2A regulatory subunit 4; Serine/threonine-protein phosphatase 2A regulatory subunit B'", "protein_names_refseq": "PP2A phosphatase activator; phosphotyrosyl phosphatase activator; protein phosphatase 2 regulatory subunit 4; protein phosphatase 2A activator, regulatory subunit 4; protein phosphatase 2A regulatory subunit 4; protein phosphatase 2A, regulatory subunit B' (PR 53); serine/threonine-protein phosphatase 2A activator isoform f; serine/threonine-protein phosphatase 2A regulatory subunit B'", "tax_id": 9606, "disease": "Parkinson's disease 25 (Disease Ontology:DOID:0070486)", "pathway": " (hsa:5524)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "10880964;11237011;16782712;16885030;16916641;17333320;19608861;20068231;23481700;24715725;25003389;25418920;25576301;26929215;26992070;27600516;28218747;28228285;28446606;28514659;28613156;28657654;28832583;28834231;28904123;29242379;29371260;29493099;29557506;30315122;30410026;30779550;30833945;31154438;31222486;31844290;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34509645;35051231;35251023;35580925;36010968;36073231;36241641;36284347;37938771;38582449;38588804;38982062;39025841;39534244;40596516;40914422;8195217;8530035", "class_list": "", "function": "FAM122A ensures cell cycle interphase progression and checkpoint control by inhibiting B55alpha/PP2A through helical motifs. Publication Status: Online-Only, [RefSeq, PubMed]; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B' family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Structural characterization of methylation-independent PP2A assembly guides alphafold2Multimer prediction of family-wide PP2A complexes., [RefSeq, PubMed]; The PP2A regulator IER5L supports prostate cancer progression. Erratum:[Cell Death Dis. 2025 Jul 22;16(1):545. doi: 10.1038/s41419-025-07802-x. PMID: 40695780] Publication Status: Online-Only, [RefSeq, PubMed]; The luciferase-based in vivo protein-protein interaction assay revealed that CHK1 promotes PP2A and PME-1 interaction., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2A347;A9IZU4;B4DXM4;Q15258;Q53GZ3;Q5TZQ2;Q9BUK1;Q9NNZ7;Q9NNZ8;Q9NNZ9", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0019888 protein phosphatase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0007052 mitotic spindle organization", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q15257-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35221-1", "uniprot_id": [ { "id": "CTNA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P35221", "type": "external" } ], "mass": 100071.0, "length": 906, "protein_name": "Catenin alpha-1", "gene_name": "CTNNA1", "organism": "Human", "refseq_name": "catenin alpha-1 isoform 2", "refseq_ac": [ { "id": "NP_001277236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277236", "type": "external" } ], "gene_names_uniprotkb": "CTNNA1", "gene_names_refseq": "CAP102; CTNNA1; MDBS2; MDPT2", "protein_names_uniprotkb": "Catenin alpha-1; Alpha E-catenin; Cadherin-associated protein; Renal carcinoma antigen NY-REN-13", "protein_names_refseq": "alpha-E-catenin; catenin (cadherin-associated protein), alpha 1, 102kDa; catenin alpha-1 isoform 2; epididymis secretory sperm binding protein; renal carcinoma antigen NY-REN-13", "tax_id": 9606, "disease": "patterned macular dystrophy 2 (Disease Ontology:DOID:0060864); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); transitional cell carcinoma (Disease Ontology:DOID:2671); invasive lobular carcinoma (Disease Ontology:DOID:3457); lung carcinoma (Disease Ontology:DOID:3905); renal cell carcinoma (Disease Ontology:DOID:4450); esophageal cancer (Disease Ontology:DOID:5041); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991)", "pathway": " (hsa:1495); (R-HSA-418990); (R-HSA-5218920); (R-HSA-525793); (R-HSA-5626467); (R-HSA-9762292); (R-HSA-9764302); (R-HSA-9764561); (R-HSA-9766229); (R-HSA-9833576); (R-HSA-9958810); (R-HSA-9958825)", "pathway_count": 12, "publication_count": 213, "publication_id_list": "10.1101/2023.09.13.557529;10075701;10225955;10320525;10330143;10473551;10508479;10601328;10805738;10861224;11237011;11278486;11447106;11782431;11804587;11875071;11948177;12050160;12110184;12417594;12634428;14517306;15104674;15302935;15345747;15561718;16184169;16467305;16807684;16964243;17060906;17081983;17244649;17487921;17686471;17967169;18083107;18093941;18220336;18237546;18318008;18364357;18452278;18491316;18555777;18578522;18653540;18669648;18991276;19079338;19354288;19369195;19413330;19415658;19564926;19651622;19664994;19664995;19690332;19737400;19941816;20058876;20068230;20068231;20112406;20160094;20166139;20371349;21299499;21406692;21708131;21730051;2183031;22036506;22117219;22323579;22424782;22544926;22645359;22944912;23186163;23208944;23481700;24008336;2405250;24275569;24714562;25253721;25372031;25466890;25576301;25645385;25653389;25810538;25892735;26024233;26154972;26182300;26280083;26375851;26691986;26728094;26768311;26992070;27397612;27726376;27862975;28051089;28278510;28317937;28740178;28904123;29110486;29356040;29437277;29493099;29557506;30315122;30379171;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33465208;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34215617;34357683;34405274;34433824;34509645;34561969;34725712;34932366;35051231;35251023;35318648;35561310;35580925;35988963;36010968;36038258;36215666;36241641;36284347;36581221;36928388;37938771;38665916;40596516;40983751;7510216;7512451;7806582;7945318;7982500;8140422;8188230;8234276;8323564;8404069;8626374;8662591;8662795;8756646;8798539;9069290;9152027;9199170;9219219;9341178;9368021;9418854;9694656;9705280;9786951;9845526;9858528;9988769", "class_list": "", "function": "Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties (PubMed:40983751). Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical actin was found to be much more dynamic than E-cadherin/catenin complexes and CTNNA1 was shown not to bind to F-actin when assembled in the complex suggesting a different linkage between actin and adherens junctions components. The homodimeric form may regulate actin filament assembly and inhibit actin branching by competing with the Arp2/3 complex for binding to actin filaments. Involved in the regulation of WWTR1/TAZ, YAP1 and TGFB1-dependent SMAD2 and SMAD3 nuclear accumulation (By similarity). May play a crucial role in cell differentiation., [UniProtKB, UniProtKB, PubMed, PubMed]; Distinct inter-domain interactions of dimeric versus monomeric alpha-catenin link cell junctions to filaments. Publication Status: Online-Only, [RefSeq, PubMed]; Familial and hereditary gastric cancer, an overview. Review article, [RefSeq, PubMed]; First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants., [RefSeq, PubMed]; This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q12795;Q8N1C0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0051015 actin filament binding;GO:0005198 structural molecule activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005912 adherens junction", "go_biological_process": "GO:0043297 apical junction assembly;GO:0007155 cell adhesion;GO:0016477 cell migration;GO:1900181 negative regulation of protein localization to nucleus;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 21.8, "record_id": "P35221-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13489-1", "uniprot_id": [ { "id": "RINI_HUMAN", "url": "https://www.uniprot.org/uniprot/P13489", "type": "external" } ], "mass": 49973.0, "length": 461, "protein_name": "Ribonuclease inhibitor", "gene_name": "RNH1", "organism": "Human", "refseq_name": "ribonuclease inhibitor", "refseq_ac": [ { "id": "NP_002930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002930", "type": "external" } ], "gene_names_uniprotkb": "RNH1; PRI; RNH", "gene_names_refseq": "IIAE12; RAI; RNH1; RNH", "protein_names_uniprotkb": "Ribonuclease inhibitor; Placental RNase inhibitor; Placental ribonuclease inhibitor; RAI; Ribonuclease/angiogenin inhibitor 1", "protein_names_refseq": "placental RNase inhibitor; placental ribonuclease inhibitor; ribonuclease inhibitor; testicular tissue protein Li 164", "tax_id": 9606, "disease": "encephalitis, acute, infection-induced, susceptibility to, 12 (MONDO:MONDO:0957561)", "pathway": " (hsa:6050)", "pathway_count": 1, "publication_count": 92, "publication_id_list": "10413501;11237011;12578357;14515218;15755456;1633192;17292889;17350650;18669648;19690332;20068231;22223895;23301498;23481700;23843625;24366607;24714562;24715725;25576301;25645385;25880248;25892735;26154972;26375851;26853435;27090790;27726376;27846572;27862975;27920218;28510447;28649982;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30833945;31217245;31530632;31844290;31848261;32157095;3219362;32350084;32387766;3243277;32502341;32510170;32938616;32983136;33123756;33214551;33298915;33592498;33936100;33968037;34019948;34171305;34211107;3470787;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36935417;37191094;37537337;38665916;38783241;40914422;40930100;8037455;9050852;9311977", "class_list": "", "function": "Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy., [RefSeq, PubMed]; Functional status analysis of RNH1 in bladder cancer for predicting immunotherapy response. Publication Status: Online-Only, [RefSeq, PubMed]; New link between RNH1 and E2F1: regulates the development of lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010]., [RefSeq]; Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia., [RefSeq, PubMed]; Ribonuclease inhibitor which inhibits RNASE1, RNASE2 and angiogenin (ANG) (PubMed:12578357, PubMed:14515218, PubMed:3219362, PubMed:3243277, PubMed:3470787, PubMed:9050852). May play a role in redox homeostasis (PubMed:17292889). Required to inhibit the cytotoxic tRNA ribonuclease activity of ANG in the cytoplasm in absence of stress (PubMed:23843625, PubMed:32510170). Relocates to the nucleus in response to stress, relieving inhibition of ANG in the cytoplasm, and inhibiting the angiogenic activity of ANG in the nucleus (PubMed:23843625)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Ribonuclease inhibitor which inhibits RNASE1, RNASE2 and angiogenin (ANG). May play a role in redox homeostasis. Required to inhibit the cytotoxic tRNA ribonuclease activity of ANG in the cytoplasm in absence of stress. Relocates to the nucleus in response to stress, relieving inhibition of ANG in the cytoplasm, and inhibiting the angiogenic activity of ANG in the nucleus., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 4, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 3, "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": "Q8IZK8;Q96FD7;Q9BQ80;Q9UDK6", "ec_number_list": [], "go_molecular_function": "GO:0008428 ribonuclease inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0016477 cell migration;GO:0034315 regulation of Arp2/3 complex-mediated actin nucleation;GO:0045765 regulation of angiogenesis;GO:0006402 mRNA catabolic process;GO:0036416 tRNA stabilization", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P13489-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LR9-1", "uniprot_id": [ { "id": "APLD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LR9", "type": "external" } ], "mass": 30546.0, "length": 279, "protein_name": "Apolipoprotein L domain-containing protein 1", "gene_name": "APOLD1", "organism": "Human", "refseq_name": "apolipoprotein L domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001123887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123887", "type": "external" } ], "gene_names_uniprotkb": "APOLD1; VERGE", "gene_names_refseq": "APOLD1; BDVAS; VERGE", "protein_names_uniprotkb": "Apolipoprotein L domain-containing protein 1; Vascular early response gene protein", "protein_names_refseq": "apolipoprotein L domain-containing protein 1 isoform 1; apolipoprotein L domain-containing protein 1; vascular early response gene protein", "tax_id": 9606, "disease": "kidney disease (Disease Ontology:DOID:557); bleeding disorder, vascular-type (MONDO:MONDO:0958229)", "pathway": " (hsa:81575)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11230166;11237011;15102925;19913121;20628086;25576301;26598643;29557506;30429286;31154438;31844290;32157095;32387766;32938616;35580925;35638551", "class_list": "", "function": "APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008]., [RefSeq]; APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Is a modulator of endothelial barrier permeability, required for proper organization of endothelial cell-cell junctions and cytoskeleton (PubMed:35638551). It also plays a role in the modulation of secretory autophagy (PubMed:35638551). May affect blood-brain barrier permeability., [UniProtKB, PubMed, 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]", "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8IVR2;Q9H0I5", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0030133 transport vesicle", "go_biological_process": "GO:0090559 regulation of membrane permeability;GO:0001525 angiogenesis;GO:0006869 lipid transport;GO:0042157 lipoprotein metabolic process;GO:0045601 regulation of endothelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q96LR9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68EM7-1", "uniprot_id": [ { "id": "RHG17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68EM7", "type": "external" } ], "mass": 95437.0, "length": 881, "protein_name": "Rho GTPase-activating protein 17", "gene_name": "ARHGAP17", "organism": "Human", "refseq_name": "rho GTPase-activating protein 17 isoform 1", "refseq_ac": [ { "id": "NP_001006635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006635", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP17; MSTP066; MSTP110; RICH1", "gene_names_refseq": "ARHGAP17; MST066; MST110; MSTP038; MSTP066; MSTP110; NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15", "protein_names_uniprotkb": "Rho GTPase-activating protein 17; RICH-1; Rho-type GTPase-activating protein 17; RhoGAP interacting with CIP4 homologs protein 1", "protein_names_refseq": "RhoGAP interacting with CIP4 homologs 1; neuron-associated developmentally regulated protein; rho GTPase-activating protein 17 isoform 1; rho-type GTPase-activating protein 17", "tax_id": 9606, "disease": "acute myocardial infarction (Disease Ontology:DOID:9408)", "pathway": " (hsa:55114); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013406); (R-HSA-9013423)", "pathway_count": 7, "publication_count": 402, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10699171;10699464;10724160;10847683;10873802;10958683;10967094;11007481;11058585;11085924;11145705;11149925;11185749;11237011;11285285;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11784792;11803464;11804587;11804589;11804590;11884391;11912491;11919634;11948177;11956649;11961559;12071859;12093360;12096337;12172552;12195014;12221096;12242347;12351724;12432077;12456725;12464619;12531887;12546821;12547822;12577064;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15169870;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15542837;15546864;15579468;15601624;15611138;15728722;15814684;15850391;15858067;15897194;16002401;16081809;16112081;16116428;16184169;16217026;16243035;16243036;16473593;16492808;16507994;16519628;1660188;16630611;16636067;16678097;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17060455;17064668;17077126;17081983;17145773;17158234;17196961;17214551;17244649;17269730;17583407;17599059;17698854;17702745;17765681;17804252;17916560;17932950;17976533;18006505;18045877;18056264;18191593;18218625;18249095;18347018;18363964;18396277;18426980;18452278;18491316;18653540;18662984;18669648;18697831;18786931;18835169;18838382;18929667;19258391;19269969;19494238;19534724;19605563;19651622;19673492;19690332;19713215;19934221;20058876;20068231;20166139;20230923;20400958;20460433;20679435;20810653;21148482;21151158;21378159;21406692;21454492;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22424782;22461490;22475431;22571869;22608513;22665057;22734669;22970203;23087206;23096567;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23757206;23870057;23940355;24086303;24102721;24259668;24275569;24297911;24335996;24352656;24355937;24584464;24623723;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25678704;25704760;25721503;25746724;25795300;25862245;25963737;26016997;26129894;26154972;26299518;26375851;26507661;26529257;26598554;26628301;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27846572;27852748;27862975;27920218;28028151;28114311;28196833;28228285;28356423;28446606;28486133;28649982;28825699;28832583;28834231;28860633;28904123;28947137;29089502;29242379;29358323;29382922;29393594;29485866;29493099;29508533;29557506;29632711;29776664;29786170;29789417;30061681;30379171;30429286;30484775;30524438;30853411;31217245;31373491;31389670;31492838;31530632;31844290;31871319;32157095;32203420;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32938750;32983136;33043033;33141586;33298915;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34171305;34357683;34509645;34932366;35051231;35251023;35254053;35293764;35318648;35580925;36010968;36241641;36571786;37217939;37938771;38665916;40914422;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8945468;8990121;8994827;9013646;9099726;9113980;9252344;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9659915;9670022;9705280;9792683;9822598;9829970;9843499;9846874;9857026;9988689", "class_list": "", "function": "ARHGAP17 enhances 5-Fluorouracil-induced apoptosis in colon cancer cells by suppressing Rac1., [RefSeq, PubMed]; ARHGAP17 regulates the spatiotemporal activity of Cdc42 at invadopodia., [RefSeq, PubMed]; RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]., [RefSeq]; Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase activator for the CDC42 GTPase by converting it to an inactive GDP-bound state. The complex formed with AMOT acts by regulating the uptake of polarity proteins at tight junctions, possibly by deciding whether tight junction transmembrane proteins are recycled back to the plasma membrane or sent elsewhere. Participates in the Ca(2+)-dependent regulation of exocytosis, possibly by catalyzing GTPase activity of Rho family proteins and by inducing the reorganization of the cortical actin filaments. Acts as a GTPase activator in vitro for RAC1., [UniProtKB, PubMed, PubMed]; We propose that Rich1 and Amot maintain TJ integrity by the coordinate regulation of Cdc42 and by linking specific components of the TJ to intracellular protein trafficking., [RefSeq, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K6M6;Q6ZUS4;Q7Z2F2;Q8NDG2;Q96KS2;Q96KS3;Q96SS8;Q9BVF6;Q9H8U5;Q9NW54", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0032956 regulation of actin cytoskeleton organization;GO:0051058 negative regulation of small GTPase mediated signal transduction;GO:0035020 regulation of Rac protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 40.8, "record_id": "Q68EM7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07355-1", "uniprot_id": [ { "id": "ANXA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P07355", "type": "external" } ], "mass": 38604.0, "length": 339, "protein_name": "Annexin A2", "gene_name": "ANXA2", "organism": "Human", "refseq_name": "annexin A2 isoform 2", "refseq_ac": [ { "id": "NP_001002857", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002857", "type": "external" } ], "gene_names_uniprotkb": "ANXA2; ANX2L4; ANX2; CAL1H; LPC2D", "gene_names_refseq": "ANX2L4; ANX2; ANXA2; CAL1H; HEL-S-270; LIP2; LPC2D; LPC2; P36; PAP-IV", "protein_names_uniprotkb": "Annexin A2; Annexin II; Annexin-2; Calpactin I heavy chain; Calpactin-1 heavy chain; Chromobindin-8; Lipocortin II; PAP-IV; Placental anticoagulant protein IV; Protein I; p36", "protein_names_refseq": "annexin A2 isoform 2; annexin II; annexin-2; calpactin I heavy chain; calpactin I heavy polypeptide; calpactin-1 heavy chain; chromobindin 8; epididymis secretory protein Li 270; epididymis secretory sperm binding protein; lipocortin II; placental anticoagulant protein IV", "tax_id": 9606, "disease": "osteonecrosis (Disease Ontology:DOID:10159); paranasal sinus benign neoplasm (Disease Ontology:DOID:1350); hypothyroidism (Disease Ontology:DOID:1459); invasive ductal carcinoma (Disease Ontology:DOID:3008); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); renal cell carcinoma (Disease Ontology:DOID:4450); cholangiocarcinoma (Disease Ontology:DOID:4947); hepatocellular carcinoma (Disease Ontology:DOID:684); hyperthyroidism (Disease Ontology:DOID:7998)", "pathway": " (hsa:302); (R-HSA-445355); (R-HSA-6798695); (R-HSA-75205); (R-HSA-8950505); (R-HSA-9860927); (R-HSA-9925563)", "pathway_count": 7, "publication_count": 244, "publication_id_list": "10991994;11237011;11242081;11457814;11532985;11889009;12007600;12048254;134998;14506282;14522961;14627618;14654843;15104674;15302870;15377279;156362;15951569;16038020;16139798;16408927;16497976;16565220;17016520;17055381;17081065;17081983;17287340;17377532;17389395;17666018;17924679;18083107;1825830;18280240;1829461;18369606;18412141;18452278;1846368;18491316;18507432;18566446;18578522;18669648;18691976;18707149;18799458;18974361;18991276;19117535;1930128;19380584;19415658;19615748;19651622;19748539;20068230;20068231;20112406;20166139;21081667;21136679;2156852;2166055;2174397;21872626;21886777;21993680;22421042;22645359;22778174;22848640;23186163;2318848;23193360;23301498;23481700;23483454;23512564;23650620;23783831;23834404;2440681;2456953;24714562;24715725;24808179;24872348;24900876;2496749;2503541;25114211;25139904;2521625;2526655;25418920;2544876;25469497;25502872;25505266;25576301;25645385;25880248;26154972;26362469;26374642;26375851;26728094;26758079;26811146;26992070;27090790;27121050;27452731;27600516;2764880;27679490;27726376;27846572;27862975;27920218;28063628;28228285;28467828;28669632;28741090;28832583;28860189;28904123;29242379;29314611;29351928;2935528;29393594;29437277;2946940;29493099;29508533;29557506;2962641;29632046;29786170;29789417;3011081;3013422;3023326;30315122;30397120;30429286;30444036;30484775;30779550;30833945;3090045;31092671;31154438;31217245;31222486;31408443;31492838;31530632;31844290;31848261;31998317;32037480;32157095;32161166;32162841;32265295;32357974;32373127;32387766;32488085;32502341;32629869;32673515;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34725712;34932366;35008409;35051231;35083852;35138101;35154160;35251023;35257889;35318648;35561310;35580925;36010968;36241641;36284347;37217939;3780718;37938771;38386231;38480477;38605477;38665916;38697447;39990658;40596516;40914422;41018975;6433976;6448849;7199524;8110754;8117306;8449982;8636985;8692836;8858389;8898866;9414276;9481611;9598563;9600334;9855623;9886297", "class_list": "", "function": "(Microbial infection) Binds M.pneumoniae CARDS toxin, probably serves as one receptor for this pathogen. When ANXA2 is down-regulated by siRNA, less toxin binds to human cells and less vacuolization (a symptom of M.pneumoniae infection) is seen., [UniProtKB, PubMed]; Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response. Inhibits PCSK9-enhanced LDLR degradation, probably reduces PCSK9 protein levels via a translational mechanism but also competes with LDLR for binding with PCSK9 (PubMed:18799458, PubMed:22848640, PubMed:24808179). Binds to endosomes damaged by phagocytosis of particulate wear debris and participates in endosomal membrane stabilization, thereby limiting NLRP3 inflammasome activation (By similarity). Required for endothelial cell surface plasmin generation and may support fibrinolytic surveillance and neoangiogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; FAXC interacts with ANXA2 and SRC in mitochondria and promotes tumorigenesis in cholangiocarcinoma., [RefSeq, PubMed]; Nuclear autoantigenic sperm protein facilitates glioblastoma progression and radioresistance by regulating the ANXA2/STAT3 axis., [RefSeq, PubMed]; PIN1 promotes the metastasis of cholangiocarcinoma cells by RACK1-mediated phosphorylation of ANXA2., [RefSeq, PubMed]; The novel DNA methylation marker FIBIN suppresses non-small cell lung cancer metastasis by negatively regulating ANXA2., [RefSeq, PubMed]; This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Annexin A2 expression has been found to correlate with resistance to treatment against various cancer forms. [provided by RefSeq, Dec 2019]., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 25, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q567R4;Q6N0B3;Q8TBV2;Q96DD5;Q9UDH8", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0003723 RNA binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005768 endosome", "go_biological_process": "GO:0010756 positive regulation of plasminogen activation;GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0001765 membrane raft assembly", "synthesized_glycan_count": 0, "hit_score": 25.0, "record_id": "P07355-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48448-1", "uniprot_id": [ { "id": "AL3B2_HUMAN", "url": "https://www.uniprot.org/uniprot/P48448", "type": "external" } ], "mass": 42635.0, "length": 385, "protein_name": "Aldehyde dehydrogenase family 3 member B2", "gene_name": "ALDH3B2", "organism": "Human", "refseq_name": "aldehyde dehydrogenase family 3 member B2 isoform a", "refseq_ac": [ { "id": "NP_001026786", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026786", "type": "external" } ], "gene_names_uniprotkb": "ALDH3B2; ALDH8", "gene_names_refseq": "ALDH3B2; ALDH8", "protein_names_uniprotkb": "Aldehyde dehydrogenase family 3 member B2; 1.2.1.3; 1.2.1.48; ALDH3B2; Aldehyde dehydrogenase 8; Long-chain fatty aldehyde dehydrogenase", "protein_names_refseq": "acetaldehyde dehydrogenase 8; aldehyde dehydrogenase 8; aldehyde dehydrogenase family 3 member B2 isoform a; aldehyde dehydrogenase family 3 member B2; long-chain fatty aldehyde dehydrogenase", "tax_id": 9606, "disease": "Sjogren-Larsson syndrome (Disease Ontology:DOID:14501)", "pathway": " (hsa:222); (R-HSA-9845614)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "11018465;11237011;11356846;12411432;12815058;16782891;16940153;17379599;17382292;17713573;18558101;18619555;19343046;20068046;20089856;20237496;20699116;23721920;25286108;25892735;27126290;28063628;29229990;29786170;30090628;30575723;30635364;31847104;33592498;34907179;41018975;7484374;8890755;9705349", "class_list": "", "function": "Aldehyde dehydrogenase 3B2 promotes the proliferation and invasion of cholangiocarcinoma by increasing Integrin Beta 1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Despite premature stop codon in DNA and mRNA sequences, full-length ALDH3B2 was found. It can be formed as a result of premature stop codon readthrough, complex phenomenon enabling stop codon circumvention. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Oxidizes medium and long chain fatty aldehydes in lipid droplets into non-toxic fatty acids., [UniProtKB, UniProtKB]; This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017]., [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": 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": 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": "Q53Y98;Q8NAL5;Q96IB2", "ec_number_list": [ { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.2.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.19", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "1.2.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.47", "type": "external" }, { "id": "1.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.46", "type": "external" }, { "id": "1.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.31", "type": "external" }, { "id": "1.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.8", "type": "external" }, { "id": "1.2.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.94", "type": "external" } ], "go_molecular_function": "GO:0004028 3-chloroallyl aldehyde dehydrogenase activity;GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity;GO:0050061 long-chain fatty aldehyde dehydrogenase (NAD+) activity;GO:0052814 medium-chain fatty aldehyde dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005886 plasma membrane", "go_biological_process": "GO:0030149 sphingolipid catabolic process;GO:0006629 lipid metabolic process;GO:0006066 alcohol metabolic process;GO:0006068 ethanol catabolic process;GO:0006081 aldehyde metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P48448-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NXT1-1", "uniprot_id": [ { "id": "ANR54_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NXT1", "type": "external" } ], "mass": 32505.0, "length": 300, "protein_name": "Ankyrin repeat domain-containing protein 54", "gene_name": "ANKRD54", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 54 isoform 1", "refseq_ac": [ { "id": "NP_620152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620152", "type": "external" } ], "gene_names_uniprotkb": "ANKRD54; LIAR", "gene_names_refseq": "ANKRD54; LIAR", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 54; Lyn-interacting ankyrin repeat protein", "protein_names_refseq": "ankyrin repeat domain-containing protein 54 isoform 1; ankyrin repeat domain-containing protein 54; lyn-interacting ankyrin repeat protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:129138)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;16964243;17081983;18477386;18691976;19369195;20068231;20166139;21406692;22527282;23301498;24275569;24715725;25576301;26154972;26992070;27600516;27920218;28369144;28832583;28834231;28904123;28924458;29242379;29557506;30524438;31844290;32157095;32357974;32387766;32488085;32897882;32938616;33141586;33392160;34171305;34509645;34932366;35318648;35580925;36010968;39894887;40307207", "class_list": "", "function": "Liar is the first protein identified that specifically influences the nucleocytoplasmic shuttling of Btk and Txk and belongs to a rare group of known proteins carrying out this activity in a Crm1-dependent manner., [RefSeq, PubMed]; Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The results show that the interaction between BTK and ANKRD54 is highly selective, since it was also identified in a screen using human SH3-domainome. A novel finding is that BTK not only binds to ANKRD54, but stands out as the preferred interactor, being highly dominant over all other human SH3-domains. 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, "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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "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": "Q6ZSB1;Q9UGV1", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0019887 protein kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0030496 midbody", "go_biological_process": "GO:0045648 positive regulation of erythrocyte differentiation;GO:1902531 regulation of intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q6NXT1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01433-1", "uniprot_id": [ { "id": "AMPD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01433", "type": "external" } ], "mass": 94890.0, "length": 825, "protein_name": "AMP deaminase 2", "gene_name": "AMPD2", "organism": "Human", "refseq_name": "AMP deaminase 2 isoform 4", "refseq_ac": [ { "id": "NP_001244290", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244290", "type": "external" } ], "gene_names_uniprotkb": "AMPD2", "gene_names_refseq": "AMPD2; AMPD; PCH9; SPG63", "protein_names_uniprotkb": "AMP deaminase 2; 3.5.4.6; AMP deaminase isoform L", "protein_names_refseq": "AMP deaminase 2 isoform 4; AMP deaminase 2; adenosine monophosphate deaminase 2 (isoform L)", "tax_id": 9606, "disease": "pontocerebellar hypoplasia (Disease Ontology:DOID:0060264); pontocerebellar hypoplasia type 9 (Disease Ontology:DOID:0060278); hereditary spastic paraplegia 63 (Disease Ontology:DOID:0110814)", "pathway": " (hsa:271); (R-HSA-74217)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "11237011;11427893;12009299;1429593;16359702;17081983;18088087;18399692;18669648;19690332;20068231;2104852;21406692;21755941;218932;227870;23186163;23481700;23911318;24275569;24482476;2539852;25418920;25576301;25645385;25892735;26728094;26929215;27600516;27920218;28063628;2844225;2845866;28514659;28832583;28834231;29242379;29393594;29508533;29632046;29769354;29786170;2999129;3029074;30315122;30429286;31154438;31530632;3182793;31848261;32144205;32161166;32265295;32387766;36445597;39075237;457664;6281270;6300847;6771276;8526848;8692979;8764830;9804782;9843365;9857047", "class_list": "", "function": "AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia., [RefSeq, PubMed]; IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency., [RefSeq, PubMed]; The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 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, "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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "A0A5F9UK94;B4DK50;B4DZI5;E9PNG0;Q14856;Q14857;Q16686;Q16687;Q16688;Q16729;Q5T693;Q5T695;Q96IA1;Q9UDX8;Q9UDX9;Q9UMU4", "ec_number_list": [ { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0003876 AMP deaminase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0046033 AMP metabolic process;GO:0097009 energy homeostasis;GO:0006188 IMP biosynthetic process;GO:0032264 IMP salvage;GO:0052652 cyclic purine nucleotide metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q01433-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P37235-1", "uniprot_id": [ { "id": "HPCL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P37235", "type": "external" } ], "mass": 22313.0, "length": 193, "protein_name": "Hippocalcin-like protein 1", "gene_name": "HPCAL1", "organism": "Human", "refseq_name": "hippocalcin-like protein 1", "refseq_ac": [ { "id": "NP_001245286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245286", "type": "external" } ], "gene_names_uniprotkb": "HPCAL1; BDR1", "gene_names_refseq": "BDR1; HLP2; HPCAL1; VILIP-3", "protein_names_uniprotkb": "Hippocalcin-like protein 1; Calcium-binding protein BDR-1; HLP2; VILIP-3; Visinin-like protein 3", "protein_names_refseq": "calcium-binding protein BDR-1; hippocalcin-like protein 1; visinin-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:3241)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11173883;11237011;20068231;25255805;28467828;28832583;28904123;29314611;29493099;30429286;31154438;31844290;31848261;32157095;32161166;32350084;32387766;32502341;32938616;32983136;33592498;33717175;33968037;33981976;34171305;34357683;35051231;35102488;35645147;36241641;36438486;37938771;40307207;8038222", "class_list": "", "function": "Expressional and prognostic value of HPCAL1 in cholangiocarcinoma via integrated bioinformatics analyses and experiments., [RefSeq, PubMed]; Hippocalcin-Like 1 blunts liver lipid metabolism to suppress tumorigenesis via directly targeting RUVBL1-mTOR signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Hippocalcin-like 1 is a key regulator of LDHA activation that promotes the growth of non-small cell lung carcinoma., [RefSeq, PubMed]; May be involved in the calcium-dependent regulation of rhodopsin phosphorylation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]; VILIP-3 immunostaining was found to be reduced in Alzheimer brains; immunoreactive material was detected in close association with amyloid plaques and neurofibrillar tangles, typical pathologic hallmarks of AD, [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "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": "Q969S5", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P37235-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25054-1", "uniprot_id": [ { "id": "APC_HUMAN", "url": "https://www.uniprot.org/uniprot/P25054", "type": "external" } ], "mass": 311646.0, "length": 2843, "protein_name": "Adenomatous polyposis coli protein", "gene_name": "APC", "organism": "Human", "refseq_name": "adenomatous polyposis coli protein isoform b", "refseq_ac": [ { "id": "NP_000029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000029", "type": "external" } ], "gene_names_uniprotkb": "APC; DP2.5", "gene_names_refseq": "APC; BTPS2; DESMD; DP2.5; DP2; DP3; GS; PPP1R46", "protein_names_uniprotkb": "Adenomatous polyposis coli protein; Deleted in polyposis 2.5; Protein APC", "protein_names_refseq": "APC, WNT signaling pathway regulator; WNT signaling pathway regulator; adenomatosis polyposis coli tumor suppressor; adenomatous polyposis coli (APC); adenomatous polyposis coli protein isoform b; adenomatous polyposis coli protein; deleted in polyposis 2.5; epididymis secretory sperm binding protein; protein phosphatase 1, regulatory subunit 46", "tax_id": 9606, "disease": "familial adenomatous polyposis (Disease Ontology:DOID:0050424); medulloblastoma (Disease Ontology:DOID:0050902); familial adenomatous polyposis 1 (Disease Ontology:DOID:0080409); hereditary desmoid disease (Disease Ontology:DOID:0111349); intestinal cancer (Disease Ontology:DOID:10155); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); colon adenocarcinoma (Disease Ontology:DOID:234); anemia (Disease Ontology:DOID:2355); ovarian cancer (Disease Ontology:DOID:2394); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial carcinoma (Disease Ontology:DOID:2871); adenocarcinoma (Disease Ontology:DOID:299); acinar cell carcinoma (Disease Ontology:DOID:3025); gallbladder cancer (Disease Ontology:DOID:3121); renal cell carcinoma (Disease Ontology:DOID:4450); cholangiocarcinoma (Disease Ontology:DOID:4947); adenoma (Disease Ontology:DOID:657); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); gastric adenocarcinoma and proximal polyposis of the stomach (MONDO:MONDO:0017790)", "pathway": " (hsa:324); (R-HSA-111465); (R-HSA-195253); (R-HSA-196299); (R-HSA-3769402); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467333); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5689896)", "pathway_count": 16, "publication_count": 301, "publication_id_list": "10.1101/2023.09.13.557529;10023660;10092233;10196136;10200466;10385526;10421629;10428961;10453075;10470088;10481074;10487827;10490026;10549281;10581160;10666372;10684251;10698523;10700176;10749138;10782927;10811618;10862053;10898789;10921899;10921920;10926498;10938175;10944533;10947987;11050185;11106668;11237011;11278797;11313965;11336703;11375957;11463333;11463840;11487578;11522655;11691822;11691915;11707392;11707456;11738041;11741893;11746989;11861647;11955436;12000790;12067995;12101426;12107159;12408824;12408825;12439748;12474228;12533826;12554650;12668660;12712206;12820959;1310068;1316610;1338691;1338764;1338904;14514668;14600025;14661020;14685266;14731402;15073180;15084453;15132997;15258597;15306667;15327768;15327769;15334086;15355978;15525529;15639864;15681612;15735151;16082208;16123041;16341016;16341017;16510874;1651562;1651563;16611247;16753179;1678319;16890161;16959974;16964243;16983089;17081983;17143292;17183061;17204608;17218525;17293347;17297457;17318175;17322306;17412698;17510365;17529994;17569865;17599059;17698607;17875931;17910481;18077588;18220336;18281465;18311776;18339531;18362152;18378692;18452278;18456656;18573912;18598779;18606139;18632848;18669648;18757411;18819930;19047045;19061640;19107203;19151759;19237556;19364920;19383985;19413330;19464428;19527921;19590513;19619488;19632184;19651622;19691289;19703905;19760609;19802005;19818707;19893577;19928349;19940019;19996094;20027139;20068231;20166139;20227366;20509626;20553488;20937854;21183070;21183076;21248786;21252990;21406692;21498506;21643010;21871439;22000517;22101459;22124327;22128170;22304967;22438566;22761442;23074275;23186163;23256519;23481700;23576677;23579495;23827681;24275569;24291232;24556848;24610782;24714562;24715725;25169422;25576301;25645385;25880248;25892735;25904330;26154972;26280536;26728094;26768311;26791533;26992070;27087319;27217144;27343414;27600516;27622074;27846572;27862975;27920218;28218747;28510447;28514659;28657654;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29753700;29786170;30059200;30429286;30524438;30620550;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33242120;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34211107;34357683;34405274;34509645;35051231;35254053;35494241;35580925;36010968;36241641;36284347;37938771;39056778;39328595;40307207;7661930;7833149;7833931;8111410;8259518;8259519;8638125;8638126;8757136;8764128;8940264;8976194;8990002;9034327;9065402;9188857;9230313;9252332;9325343;9419979;9431985;9482734;9556553;9601641;9635432;9724771;9731522;9731533;9869603;9950360;9973276;9973322;9990852", "class_list": "", "function": "APC and ZBTB2 May Mediate M2 Macrophage Infiltration to Promote the Development of Renal Fibrosis: A Bioinformatics Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma-Derived Extracellular Vesicles and Non-Extracellular Vesicle Components from APC[Min/+] Mice Promote Pro-Tumorigenic Activities and Activate Human Colonic Fibroblasts via the NF-kappaB Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Mutations in the APC gene have been found to occur in most colorectal cancers, where disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jun 2022]., [RefSeq]; Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Associates with both microtubules and actin filaments, components of the cytoskeleton (PubMed:17293347). Plays a role in mediating the organization of F-actin into ordered bundles (PubMed:17293347). Functions downstream of Rho GTPases and DIAPH1 to selectively stabilize microtubules (By similarity). Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 3, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 81, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 471, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 26, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B7Z2B6;D3DT03;Q15162;Q15163;Q93042", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0019901 protein kinase binding;GO:0031625 ubiquitin protein ligase binding;GO:0008013 beta-catenin binding;GO:0019887 protein kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0001708 cell fate specification;GO:0003170 heart valve development;GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 31.5, "record_id": "P25054-1", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTA9-1", "uniprot_id": [ { "id": "WAC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTA9", "type": "external" } ], "mass": 70724.0, "length": 647, "protein_name": "WW domain-containing adapter protein with coiled-coil", "gene_name": "WAC", "organism": "Human", "refseq_name": "WW domain-containing adapter protein with coiled-coil isoform 1", "refseq_ac": [ { "id": "NP_057712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057712", "type": "external" } ], "gene_names_uniprotkb": "WAC; KIAA1844", "gene_names_refseq": "BM-016; DESSH; PRO1741; WAC; Wwp4", "protein_names_uniprotkb": "WW domain-containing adapter protein with coiled-coil", "protein_names_refseq": "WW domain-containing adapter protein with coiled-coil isoform 1; WW domain-containing adapter protein with coiled-coil", "tax_id": 9606, "disease": "DeSanto-Shinawi syndrome (Disease Ontology:DOID:0081126)", "pathway": " (hsa:51322); (R-HSA-8866654)", "pathway_count": 2, "publication_count": 123, "publication_id_list": "10562279;11237011;11740563;15215855;15215856;16307923;16868077;16959974;16964243;17081983;17108083;17130289;17726030;18316726;18359941;18452278;18669648;18719106;19208625;19410543;19413330;19608861;19651622;19690332;19723507;20068231;21203937;21329877;21396873;21554508;21872626;21993680;22021426;22354037;23033978;23186163;23301498;23481700;24275569;24662292;24714562;24807418;24979766;25030448;25170678;25356899;25576301;25936802;26086376;26210183;26216882;26264232;26344566;26350214;26711259;26757981;26812014;26992070;27569044;27597759;27600516;27798111;27846572;27920218;28228285;28649982;28832583;28834231;28904123;29237092;29242379;29508533;29557506;29786170;30021153;30059200;30429286;30524438;31324691;31492838;31844290;32157095;32357974;32387766;32574038;32897882;32938616;32938750;32983136;33214551;33298915;33387902;33592498;33857290;33912179;33936100;33968037;33981976;34019948;34087483;34509645;34581882;34932366;35018708;35051231;35132862;35138101;35254053;35289036;35513511;35580925;35705054;36010968;36215666;36241641;37217939;38665916;39302247;39531497;39534244;40307207;8625414;8991089", "class_list": "", "function": "Acts as a linker between gene transcription and histone H2B monoubiquitination at 'Lys-120' (H2BK120ub1) (PubMed:21329877). Interacts with the RNA polymerase II transcriptional machinery via its WW domain and with RNF20-RNF40 via its coiled coil region, thereby linking and regulating H2BK120ub1 and gene transcription (PubMed:21329877). Regulates the cell-cycle checkpoint activation in response to DNA damage (PubMed:21329877). Positive regulator of amino acid starvation-induced autophagy (PubMed:22354037). Also acts as a negative regulator of basal autophagy (PubMed:26812014). Positively regulates MTOR activity by promoting, in an energy-dependent manner, the assembly of the TTT complex composed of TELO2, TTI1 and TTI2 and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex. This leads to the dimerization of the mTORC1 complex and its subsequent activation (PubMed:26812014). May negatively regulate the ubiquitin proteasome pathway (PubMed:21329877)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant., [RefSeq, PubMed]; Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript., [RefSeq, PubMed]; Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants., [RefSeq, PubMed]; The identification of SCOC and WAC as novel regulatory proteins with diverse functions in autophagy contributes towards a fuller understanding of autophagosome formation., [RefSeq, PubMed]; The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]., [RefSeq]; WAC, a novel GBM tumor suppressor, induces GBM cell apoptosis and promotes autophagy. 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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 32, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "A8K2A9;C9JBT9;D3DRW5;D3DRW6;D3DRW7;Q53EN9;Q5JU75;Q5JU77;Q5VXK0;Q5VXK2;Q8TCK1;Q96DP3;Q96FW6;Q96JI3", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0000993 RNA polymerase II complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0010506 regulation of autophagy;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "Q9BTA9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14923-1", "uniprot_id": [ { "id": "PLAK_HUMAN", "url": "https://www.uniprot.org/uniprot/P14923", "type": "external" } ], "mass": 81745.0, "length": 745, "protein_name": "Junction plakoglobin", "gene_name": "JUP", "organism": "Human", "refseq_name": "junction plakoglobin", "refseq_ac": [ { "id": "NP_002221", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002221", "type": "external" } ], "gene_names_uniprotkb": "JUP; CTNNG; DP3", "gene_names_refseq": "CTNNG; DP3; DPIII; JUP; PDGB; PG; PKGB", "protein_names_uniprotkb": "Junction plakoglobin; Catenin gamma; Desmoplakin III; Desmoplakin-3", "protein_names_refseq": "catenin (cadherin-associated protein), gamma 80kDa; desmoplakin III; desmoplakin-3; desmosomal protein 3; junction plakoglobin", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); cardiomyopathy (Disease Ontology:DOID:0050700); endometrial hyperplasia (Disease Ontology:DOID:0080365); Naxos disease (Disease Ontology:DOID:0080551); arrhythmogenic right ventricular dysplasia 12 (Disease Ontology:DOID:0110083); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); endometrial cancer (Disease Ontology:DOID:1380); cancer (Disease Ontology:DOID:162); nephroblastoma (Disease Ontology:DOID:2154); ovarian cancer (Disease Ontology:DOID:2394); invasive ductal carcinoma (Disease Ontology:DOID:3008); carcinoma (Disease Ontology:DOID:305); palmoplantar keratosis (Disease Ontology:DOID:3390); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); epidermolytic hyperkeratosis (Disease Ontology:DOID:4603); neuropathy (Disease Ontology:DOID:870); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3728); (R-HSA-418990); (R-HSA-5218920); (R-HSA-6798695); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013406); (R-HSA-9013407); (R-HSA-9013409); (R-HSA-9762292); (R-HSA-9764302); (R-HSA-9764561); (R-HSA-9766229); (R-HSA-9768727); (R-HSA-9833576); (R-HSA-9958810); (R-HSA-9958825)", "pathway_count": 21, "publication_count": 508, "publication_id_list": 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"class_list": "", "function": "Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity). May promote axon outgrowth and motor fiber repair via DSP-mediated recruitment to outgrowth tips (By similarity)., [UniProtKB, UniProtKB]; Plakoglobin regulates adipocyte differentiation independently of the Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; TRIM50 Inhibits Gastric Cancer Progression by Regulating the Ubiquitination and Nuclear Translocation of JUP., [RefSeq, PubMed]; This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]., [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": 1, "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": 1, "reported_phosphosites": 13, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 19, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q15093;Q15151;Q7L3S5;Q86W21;Q9BWC4;Q9HCX9", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0005198 structural molecule activity;GO:0045296 cadherin binding;GO:0050839 cell adhesion molecule binding;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0071603 endothelial cell-cell adhesion;GO:0016477 cell migration;GO:0042127 regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 52.7, "record_id": "P14923-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VTR2-1", "uniprot_id": [ { "id": "BRE1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VTR2", "type": "external" } ], "mass": 113662.0, "length": 975, "protein_name": "E3 ubiquitin-protein ligase BRE1A", "gene_name": "RNF20", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase BRE1A", "refseq_ac": [ { "id": "NP_062538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_062538", "type": "external" } ], "gene_names_uniprotkb": "RNF20; BRE1A", "gene_names_refseq": "BRE1A; BRE1; RNF20; hBRE1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase BRE1A; 2.3.2.27; BRE1-A; RING finger protein 20; RING-type E3 ubiquitin transferase BRE1A; hBRE1", "protein_names_refseq": "BRE1 E3 ubiquitin ligase homolog; E3 ubiquitin-protein ligase BRE1A; RING-type E3 ubiquitin transferase BRE1A; homolog of S. cerevisiae BRE1", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:56254); (R-HSA-8866654); (R-HSA-9013422)", "pathway_count": 3, "publication_count": 160, "publication_id_list": "10562279;11237011;11740563;12535538;15215855;15215856;16307923;16337599;16868077;17081983;17108083;17130289;17322306;17525332;17726030;18212344;18316726;18359941;18452278;18491316;18669648;18719106;18767875;18835386;18991276;19037095;19208625;19410543;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19723507;20058876;20068231;20112406;20230923;21136679;21203937;21329877;21396873;21406692;21554508;22021426;22424782;22544926;23186163;23301498;23481700;24275569;24608665;24662292;24715725;24807418;24979766;25030448;25170678;25418920;25505266;25576301;25645385;25892735;25936802;26086376;26154972;26210183;26216882;26344566;26350214;26375851;26711259;26768311;26992070;27314390;27569044;27597759;27600516;27798111;27862975;28228285;28510447;28649982;28832583;28834231;28860189;28904123;29242379;29331515;29493099;29508533;29557506;29786170;30315122;30379171;30429286;30524438;30779550;30833945;30896450;31092671;31154438;31217245;31222486;31431478;31530632;31844290;31848261;31871319;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33465208;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35154160;35318648;35580925;36010968;36215666;36241641;36284347;37217939;37888983;37938771;38315842;38517892;38519511;38608146;40596516;8625414;8991089", "class_list": "", "function": "(Microbial infection) Promotes the human herpesvirus 8 (KSHV) lytic cycle by inducing the expression of lytic viral genes including the latency switch gene RTA/ORF50., [UniProtKB, PubMed]; Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role inb histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradictory. Required for transcriptional activation of Hox genes. Recruited to the MDM2 promoter, probably by being recruited by p53/TP53, and thereby acts as a transcriptional coactivator. Mediates the polyubiquitination of isoform 2 of PA2G4 in cancer cells leading to its proteasome-mediated degradation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Functional analysis of the yeast counterpart, [RefSeq, PubMed]; Hypoxia-inducible factor 1 recruits FACT and RNF20/40 to mediate histone ubiquitination and transcriptional activation of target genes., [RefSeq, PubMed]; RNF20 Reduces Cell Proliferation and Warburg Effect by Promoting NLRP3 Ubiquitination in Liver Cancer., [RefSeq, PubMed]; RNF20 contributes to epigenetic immunosuppression through CDK9-dependent LSD1 stabilization., [RefSeq, PubMed]; Structure of the human Bre1 complex bound to the nucleosome. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This protein acts as a putative tumor suppressor and positively regulates the p53 tumor suppressor as well as numerous histone H2A and H2B genes. In contrast, this protein also suppresses the expression of several protooncogenes and growth-related genes, including many genes that are induced by epidermal growth factor. This gene selectively suppresses the expression of some genes by interfering with chromatin recruitment of transcription elongation factor SII (TFIIS). [provided by RefSeq, Feb 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, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A7MCT5;Q2TB34;Q69YL5;Q6P527;Q8N3J4;Q96JD3;Q9H9Y7;Q9HA51;Q9NUR4;Q9NWQ3;Q9NX83", "ec_number_list": [ { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "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:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000151 ubiquitin ligase complex;GO:0033503 HULC complex", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0030336 negative regulation of cell migration;GO:0045893 positive regulation of DNA-templated transcription;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "Q5VTR2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UB99-1", "uniprot_id": [ { "id": "ANR11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UB99", "type": "external" } ], "mass": 297913.0, "length": 2663, "protein_name": "Ankyrin repeat domain-containing protein 11", "gene_name": "ANKRD11", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 11", "refseq_ac": [ { "id": "NP_001243111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243111", "type": "external" } ], "gene_names_uniprotkb": "ANKRD11; ANCO1", "gene_names_refseq": "ANCO-1; ANCO1; ANKRD11; LZ16; T13", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 11; Ankyrin repeat-containing cofactor 1", "protein_names_refseq": "ankyrin repeat domain containing 11; ankyrin repeat domain-containing protein 11; ankyrin repeat-containing cofactor 1; ankyrin repeats containing cofactor 1; nasopharyngeal carcinoma susceptibility protein", "tax_id": 9606, "disease": "KBG syndrome (Disease Ontology:DOID:14780)", "pathway": " (hsa:29123)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "11237011;15184363;17081983;17322306;17521611;18452278;18491316;18669648;18840648;19413330;19615748;19651622;19690332;19920853;20068231;21406692;21782149;23186163;23481700;24397554;24715725;25413698;25556659;25576301;25645385;25892735;26154972;26768311;26811146;26929215;26992070;27846572;27862975;27920218;28218747;28514659;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29557506;29632711;29769354;29786170;30315122;30379171;30429286;30620550;30779550;31154438;31217245;31222486;31530632;31566922;31844290;31848261;31998317;32157095;32161166;32357974;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33968037;34211107;34561969;35051231;35318648;35580925;36215666;36284347;36584991;36628575;37290286;37511268;37938771;38253038;39135054", "class_list": "", "function": "ANKRD11 has a role as a p53 coactivator and may be involved in a regulatory feedback loop with p53, [RefSeq, PubMed]; ANKRD11 is a candidate gene for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome., [RefSeq, PubMed]; Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation (PubMed:15184363). Has a role in proliferation and development of cortical neural precursors (PubMed:25556659). May also regulate bone homeostasis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome. Review article, [RefSeq, PubMed]; Identification and functional characterization of a bipartite nuclear localization signal in ANKRD11., [RefSeq, PubMed]; Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Loss of ANCO1 Expression Regulates Chromatin Accessibility and Drives Progression of Early-Stage Triple-Negative Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]., [RefSeq]; Together, these results indicate that the transcriptional potential of ANCO-1 may be modulated by a combination of repression and activation signals., [RefSeq, PubMed]; [Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene]., [RefSeq, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 29, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 123, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q6NTG1;Q6QMF8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0042475 odontogenesis of dentin-containing tooth;GO:0048705 skeletal system morphogenesis;GO:0060325 face morphogenesis", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q6UB99-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75150-1", "uniprot_id": [ { "id": "BRE1B_HUMAN", "url": "https://www.uniprot.org/uniprot/O75150", "type": "external" } ], "mass": 113678.0, "length": 1001, "protein_name": "E3 ubiquitin-protein ligase BRE1B", "gene_name": "RNF40", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase BRE1B isoform 2", "refseq_ac": [ { "id": "NP_001193962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193962", "type": "external" } ], "gene_names_uniprotkb": "RNF40; BRE1B; KIAA0661", "gene_names_refseq": "BRE1B; RBP95; RNF40; STARING", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase BRE1B; 2.3.2.27; 95 kDa retinoblastoma-associated protein; BRE1-B; RBP95; RING finger protein 40; RING-type E3 ubiquitin transferase BRE1B", "protein_names_refseq": "95 kDa retinoblastoma protein binding protein; 95 kDa retinoblastoma-associated protein; BRE1 E3 ubiquitin ligase homolog B; BRE1-B; E3 ubiquitin-protein ligase BRE1B isoform 2; E3 ubiquitin-protein ligase BRE1B; RING-type E3 ubiquitin transferase BRE1B; Rb-associated protein; ring finger protein 40, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "nephrogenic diabetes insipidus (Disease Ontology:DOID:12387); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:9810); (R-HSA-8866654)", "pathway_count": 2, "publication_count": 126, "publication_id_list": "10562279;10944455;11237011;11740563;12121982;15215855;15215856;16307923;16868077;17081983;17108083;17130289;17726030;18077418;18316726;18359941;18719106;19208625;19410543;19723507;20068231;21203937;21329877;21396873;21554508;21872626;21993680;22021426;22706990;23301498;23481700;24662292;24807418;24979766;25030448;25170678;25418920;25645385;25892735;25936802;26086376;26210183;26216882;26344566;26350214;26375851;26711259;26728094;27569044;27597759;27600516;27798111;27862975;27920218;28063628;28228285;28510447;28514659;28649982;28832583;28834231;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30429286;30484775;30524438;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33199825;33298915;33392160;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34405274;34509645;34561969;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36241641;36284347;37217939;37770435;37888983;37938771;38517892;40307207;8625414;8991089", "class_list": "", "function": "(Microbial infection) Promotes the human herpesvirus 8 (KSHV) lytic cycle by inducing the expression of lytic viral genes including the latency switch gene RTA/ORF50., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role in histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradictory. Required for transcriptional activation of Hox genes., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Epigenetic modification and a role for the E3 ligase RNF40 in cancer development and metastasis. Review article, [RefSeq, PubMed]; Formation of trimeric complex UbcH6 and RNF20/40 with PAF stimulates histone 2B monoubiquitination activity in vitro, [RefSeq, PubMed]; Functional Analysis of the rat counterpart, [RefSeq, PubMed]; Hypoxia-inducible factor 1 recruits FACT and RNF20/40 to mediate histone ubiquitination and transcriptional activation of target genes., [RefSeq, PubMed]; RNF40 epigenetically modulates glycolysis to support the aggressiveness of basal-like breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0A024QZG0;Q6AHZ6;Q6N005;Q7L3T6;Q8N615;Q96T18;Q9BSV9;Q9HC82", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0031625 ubiquitin protein ligase binding;GO:0061630 ubiquitin protein ligase activity;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0000151 ubiquitin ligase complex;GO:0033503 HULC complex", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0016567 protein ubiquitination;GO:0006325 chromatin organization;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "O75150-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92734-1", "uniprot_id": [ { "id": "TFG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92734", "type": "external" } ], "mass": 43448.0, "length": 400, "protein_name": "Protein TFG", "gene_name": "TFG", "organism": "Human", "refseq_name": "protein TFG isoform 1", "refseq_ac": [ { "id": "NP_001007566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007566", "type": "external" } ], "gene_names_uniprotkb": "TFG", "gene_names_refseq": "HMSNP; SPG57; TF6; TFG; TRKT3", "protein_names_uniprotkb": "Protein TFG; TRK-fused gene protein", "protein_names_refseq": "TRK-fused gene protein; TRKT3 oncogene; protein TFG isoform 1; protein TFG", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 2 (Disease Ontology:DOID:0050539); hereditary spastic paraplegia 57 (Disease Ontology:DOID:0110809)", "pathway": " (hsa:10342); (R-HSA-204005); (R-HSA-9725370)", "pathway_count": 3, "publication_count": 255, "publication_id_list": "10216106;10445031;10556217;10559959;10679020;10702393;10706082;10706887;10747087;10788476;10825291;10903204;10934142;10982397;11035026;11110708;11237011;11280786;11285137;11306556;11310834;11504915;11751994;11850821;11927603;11943732;11988758;12070132;12112524;12185581;12235121;12424201;12750159;12800156;12920229;12934099;14962911;15037235;15169778;15208656;15374880;15588951;15895073;16153455;16161041;16170336;16303754;16495487;16624868;16825495;16871283;16912714;16939498;16959974;17005010;17038314;17086210;17192411;17287728;17316621;17353907;17416736;17483340;17562788;17625570;17684057;18097461;18452557;18593892;18594010;18669648;18701132;18724359;18843296;18923523;18923524;18923525;19164740;19456272;19459784;19638414;19656848;19690332;20058876;20068231;20166139;20230923;20305658;20454865;20545907;20679433;20966969;21134980;21164297;21213368;21415216;21478858;21494621;21532587;21596819;21656749;21689688;21740066;21838707;21847362;22013193;22121020;22157747;22223895;22249260;22327622;22347464;22570254;22658521;22675024;22883144;23104988;23139213;23186163;23201355;23239810;23301498;23378591;23479643;23481700;23661334;23698585;23719902;23864707;23957430;24060861;24119662;24129315;24275569;24445538;24475247;24496003;24518094;24613930;24715725;24736082;24917561;25202031;25342631;25393796;25406594;25418920;25421750;25492864;25502872;25576301;25586378;25619252;25813404;25892735;25921060;26001147;26062823;26301689;26375851;27245569;27492651;27573755;27813252;27846572;27874193;27893789;28063628;28404650;28411811;28467828;28510447;28659337;28741662;28832583;28904123;29242379;29314611;29351928;29393594;29455642;29508533;29557506;29786170;29789417;29873274;30131584;30237576;30397120;30429286;30573663;30626607;30692217;31154438;31217245;31222486;31366041;31373491;31611695;31844290;31848261;32119511;32157095;32350084;32488085;32870666;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33912179;33968037;34019948;34357683;34433824;34532545;34561969;34725712;34932366;35008409;35051231;35138101;35254053;35318648;35379963;35580925;36215666;36284347;36464850;37217939;37890998;37938771;38533668;38665916;38837630;39531497;39534244;40596516;40914422;7565764;7824924;8221884;8620540;8633037;8663406;9094723;9150144;9169129;9177194;9307973;9647643;9819383", "class_list": "", "function": "Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia., [RefSeq, PubMed]; Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture., [RefSeq, PubMed]; Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:21478858)., [UniProtKB, PubMed, PubMed, PubMed]; TFG::MET-rearranged soft tissue tumor: A rare infantile neoplasm with a distinct low-grade triphasic morphology., [RefSeq, PubMed]; There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]., [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": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "D3DN49;G5E9V1;K0J5S8;K0J6K2;Q15656;Q969I2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070971 endoplasmic reticulum exit site", "go_biological_process": "GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0048208 COPII vesicle coating", "synthesized_glycan_count": 0, "hit_score": 26.9, "record_id": "Q92734-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15025-1", "uniprot_id": [ { "id": "TNIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15025", "type": "external" } ], "mass": 71864.0, "length": 636, "protein_name": "TNFAIP3-interacting protein 1", "gene_name": "TNIP1", "organism": "Human", "refseq_name": "TNFAIP3-interacting protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001239314", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239314", "type": "external" } ], "gene_names_uniprotkb": "TNIP1; KIAA0113; NAF1", "gene_names_refseq": "ABIN-1; NAF1; TNIP1; VAN; nip40-1", "protein_names_uniprotkb": "TNFAIP3-interacting protein 1; A20-binding inhibitor of NF-kappa-B activation 1; ABIN-1; HIV-1 Nef-interacting protein; Naf1; Nef-associated factor 1; Nip40-1; VAN; Virion-associated nuclear shuttling protein; hVAN", "protein_names_refseq": "A20-binding inhibitor of NF-kappa-B activation 1; HIV-1 Nef-interacting protein; Nef-associated factor 1 SNP; TNFAIP3-interacting protein 1 isoform 1; virion-associated nuclear shuttling protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10318); (R-HSA-5689896)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10385526;11090181;11237011;11463333;12220502;14661020;15258597;15334086;16684768;16964243;17016622;17632516;18292551;18669648;19383985;19413330;19464428;19664994;19690332;19818707;19996094;20010814;20068231;20553488;21266526;21606507;21654843;21885437;22124327;23186163;23827681;24129315;24275569;24610782;25502872;25576301;25904330;26280536;26811146;26992070;27090790;27726376;27846572;27920218;28063628;28467828;28832583;28904123;29242379;29314611;29317506;29393594;29557506;29774024;30315122;30524438;30626607;31217245;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32938616;32983136;33043033;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34357683;34433824;34509645;34561969;34932366;35051231;35154160;35251023;35494241;35561310;36010968;36215666;36847414;36898370;37751795;38809917;8681136;9923610", "class_list": "", "function": "Inhibits NF-kappa-B activation and TNF-induced NF-kappa-B-dependent gene expression by regulating TAX1BP1 and A20/TNFAIP3-mediated deubiquitination of IKBKG; proposed to link A20/TNFAIP3 to ubiquitinated IKBKG (PubMed:21885437). Involved in regulation of EGF-induced ERK1/ERK2 signaling pathway; blocks MAPK3/MAPK1 nuclear translocation and MAPK1-dependent transcription. Increases cell surface CD4(T4) antigen expression. Involved in the anti-inflammatory response of macrophages and positively regulates TLR-induced activation of CEBPB. Involved in the prevention of autoimmunity; this function implicates binding to polyubiquitin. Involved in leukocyte integrin activation during inflammation; this function is mediated by association with SELPLG and dependent on phosphorylation by SRC-family kinases. Interacts with HIV-1 matrix protein and is packaged into virions and overexpression can inhibit viral replication. May regulate matrix nuclear localization, both nuclear import of PIC (Preintegration complex) and export of GAG polyprotein and viral genomic RNA during virion production. In case of infection, promotes association of IKBKG with Shigella flexneri E3 ubiquitin-protein ligase ipah9.8 p which in turn promotes polyubiquitination of IKBKG leading to its proteasome-dependent degradation and thus is perturbing NF-kappa-B activation during bacterial infection., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Post-GWAS multiomic functional investigation of the TNIP1 locus in Alzheimer's disease highlights a potential role for GPX3., [RefSeq, PubMed]; TNFAIP3-interacting protein 1 polymorphisms and their association with symptomatic human respiratory syncytial virus infection and bronchiolitis in infants younger than one year from South Africa: A case-control study., [RefSeq, PubMed]; TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1., [RefSeq, PubMed]; The inflammation repressor TNIP1/ABIN-1 is degraded by autophagy following TBK1 phosphorylation of its LIR., [RefSeq, PubMed]; This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [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": 14, "reported_mutagensis": 2, "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": "A4F1W8;A4F1W9;A4F1X2;A4F1X4;A4F1X5;A4F1X6;A4F1X7;A4F1X9;B7Z699;E7EPY1;E7ET96;O76008;Q05KP3;Q05KP4;Q6N077;Q96EL9;Q99833;Q9H1J3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0051019 mitogen-activated protein kinase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006952 defense response;GO:0006954 inflammatory response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0009101 glycoprotein biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q15025-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51857-1", "uniprot_id": [ { "id": "AK1D1_HUMAN", "url": "https://www.uniprot.org/uniprot/P51857", "type": "external" } ], "mass": 37377.0, "length": 326, "protein_name": "Aldo-keto reductase family 1 member D1", "gene_name": "AKR1D1", "organism": "Human", "refseq_name": "aldo-keto reductase family 1 member D1 isoform 2", "refseq_ac": [ { "id": "NP_001177835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177835", "type": "external" } ], "gene_names_uniprotkb": "AKR1D1; SRD5B1", "gene_names_refseq": "3o5bred; AKR1D1; CBAS2; SRD5B1", "protein_names_uniprotkb": "Aldo-keto reductase family 1 member D1; 1.3.1.3; 3-oxo-5-beta-steroid 4-dehydrogenase; Delta(4)-3-ketosteroid 5-beta-reductase; Delta(4)-3-oxosteroid 5-beta-reductase", "protein_names_refseq": "aldo-keto reductase family 1 member D1 isoform 2; delta(4)-3-ketosteroid 5-beta-reductase; delta(4)-3-oxosteroid 5-beta-reductase; steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1)", "tax_id": 9606, "disease": "congenital bile acid synthesis defect 2 (Disease Ontology:DOID:0111069)", "pathway": " (hsa:6718); (R-HSA-193368); (R-HSA-193775); (R-HSA-193807)", "pathway_count": 4, "publication_count": 48, "publication_id_list": "10051404;10092594;10377398;10479480;10588945;10655068;10748047;10749848;11060344;11067870;11158055;11237011;11342103;11673457;11980911;12679481;12970144;1400444;14640697;15030995;1708392;18407998;18624455;18848863;19075558;19175828;19515843;2019602;20522910;21255593;22437839;2384150;29557506;31154438;31337596;31844290;33493134;33502336;35051231;35580925;36739965;7508385;7649182;8034703;8387517;8902629;8943006;9660774", "class_list": "", "function": "AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases., [RefSeq, PubMed]; Catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure to yield an A/B cis-ring junction. This cis-configuration is crucial for bile acid biosynthesis and plays important roles in steroid metabolism. Capable of reducing a broad range of delta-(4)-3-ketosteroids from C18 (such as, 17beta-hydroxyestr-4-en-3-one) to C27 (such as, 7alpha-hydroxycholest-4-en-3-one)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Diagnostic and prognostic values of AKR1C3 and AKR1D1 in hepatocellular carcinoma., [RefSeq, PubMed]; Differential activity and expression of human 5beta-reductase (AKR1D1) splice variants., [RefSeq, PubMed]; Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Delta[4]-3-Oxosteroid-5beta-Reductase Deficiency., [RefSeq, PubMed]; The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]., [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": 2, "reported_glycation": 0, "reported_snv": 4, "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": "A1L4P6;A8K060;B4DPN3;B4DPN8", "ec_number_list": [ { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.357", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.3.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.3", "type": "external" }, { "id": "1.1.1.270", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.270", "type": "external" } ], "go_molecular_function": "GO:0016229 steroid dehydrogenase activity;GO:0004032 aldose reductase (NADPH) activity;GO:0005496 steroid binding;GO:0047787 Delta4-3-oxosteroid 5beta-reductase activity;GO:0008106 alcohol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006699 bile acid biosynthetic process;GO:0007586 digestion;GO:0006707 cholesterol catabolic process;GO:0008207 C21-steroid hormone metabolic process;GO:0008209 androgen metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "P51857-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19961-1", "uniprot_id": [ { "id": "AMY2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P19961", "type": "external" } ], "mass": 57710.0, "length": 511, "protein_name": "Alpha-amylase 2B", "gene_name": "AMY2B", "organism": "Human", "refseq_name": "alpha-amylase 2B precursor", "refseq_ac": [ { "id": "NP_066188", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066188", "type": "external" } ], "gene_names_uniprotkb": "AMY2B", "gene_names_refseq": "AMY2B; AMY2; AMY3; HXA", "protein_names_uniprotkb": "Alpha-amylase 2B; 1,4-alpha-D-glucan glucanohydrolase 2B; 3.2.1.1; Carcinoid alpha-amylase", "protein_names_refseq": "1,4-alpha-D-glucan glucanohydrolase 2B; alpha-amylase 2B precursor; alpha-amylase 2B; amylase alpha 2B (pancreatic); carcinoid alpha-amylase; glycogenase", "tax_id": 9606, "disease": "", "pathway": " (hsa:280); (R-HSA-189085)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10769135;11085997;11237011;12547908;12692040;14616060;15299664;16584180;1697585;18824549;19241384;19435888;19955176;20356844;2401405;2452973;2701942;28659346;30938472;31478242;3227291;3260028;34357683;3800897;3897250;39894887;4737205;5104075;6466686;7487100;7836450;7906143;807575;8268204;8951031;9427547;9446624", "class_list": "glycogene;glycosylhydrolase", "function": "A significant link between serum amylase activity and ABO blood type in Chinese subjects., [RefSeq, PubMed]; Alpha-Amylase expressed in human small intestinal epithelial cells is essential for cell proliferation and differentiation., [RefSeq, PubMed]; Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013]., [RefSeq]; It was concluded that the genetic variant determining starch metabolism influences the response to weight-loss dietary intervention. Overweight and obese individuals carrying the AMY1-AMY2 rs11185098 genotype associated with higher amylase activity may have greater loss of adiposity during low-calorie diet interventions., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 881, "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": "B3KTI1;B3KXB7;D3DT76;Q9UBH3", "ec_number_list": [ { "id": "3.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.1", "type": "external" } ], "go_molecular_function": "GO:0031404 chloride ion binding;GO:0005509 calcium ion binding;GO:0004556 alpha-amylase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P19961-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14524-1", "uniprot_id": [ { "id": "SCN5A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14524", "type": "external" } ], "mass": 226940.0, "length": 2016, "protein_name": "Sodium channel protein type 5 subunit alpha", "gene_name": "SCN5A", "organism": "Human", "refseq_name": "sodium channel protein type 5 subunit alpha isoform e", "refseq_ac": [ { "id": "NP_001153632", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153632", "type": "external" } ], "gene_names_uniprotkb": "SCN5A", "gene_names_refseq": "CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1; ICCD; IVF; LQT3; Nav1.5; PFHB1; SCN5A; SSS1; VF1", "protein_names_uniprotkb": "Sodium channel protein type 5 subunit alpha; Sodium channel protein cardiac muscle subunit alpha; Sodium channel protein type V subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.5; hH1", "protein_names_refseq": "cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit; sodium channel protein cardiac muscle subunit alpha; sodium channel protein type 5 subunit alpha isoform e; sodium channel protein type 5 subunit alpha; sodium channel, voltage-gated, type V, alpha subunit; voltage-gated sodium channel subunit alpha Nav1.5", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); Brugada syndrome (Disease Ontology:DOID:0050451); familial atrial fibrillation (Disease Ontology:DOID:0050650); generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); Dravet syndrome (Disease Ontology:DOID:0080422); atrial standstill 1 (Disease Ontology:DOID:0080662); Brugada syndrome 1 (Disease Ontology:DOID:0110218); dilated cardiomyopathy 1E (Disease Ontology:DOID:0110433); long QT syndrome 3 (Disease Ontology:DOID:0110646); progressive familial heart block (Disease Ontology:DOID:0111073); progressive familial heart block type IA (Disease Ontology:DOID:0111074); generalized epilepsy with febrile seizures plus 2 (Disease Ontology:DOID:0111294); sick sinus syndrome (Disease Ontology:DOID:13884); epilepsy (Disease Ontology:DOID:1826); brain ischemia (Disease Ontology:DOID:2316); long QT syndrome (Disease Ontology:DOID:2843); congestive heart failure (Disease Ontology:DOID:6000); sudden infant death syndrome (Disease Ontology:DOID:9007); ventricular fibrillation, paroxysmal familial, type 1 (MONDO:MONDO:0011376)", "pathway": " (hsa:6331); (R-HSA-445095); (R-HSA-5576892)", "pathway_count": 3, "publication_count": 154, "publication_id_list": "10.1101/2023.09.13.557529;10377081;10471492;10508990;10532948;10590249;10618304;10627139;10690282;10911008;10940383;10973849;11222639;11234013;11237011;11290418;11304498;11410597;11535573;11710892;11748104;11804990;11823453;11889015;11901046;11997281;12051963;12106943;12193783;12209021;12358675;12454206;12471205;12522116;12569159;12574143;12673799;1309946;14500339;14523039;15000524;15023552;15217910;15338453;15466643;15548568;15579534;15831816;15840476;15851320;16054936;16115203;16266370;16325048;16414944;16597699;16616735;16904324;16922724;17075016;17081365;17198989;17223356;18060054;18088563;18184654;18252757;18341814;18368697;18378609;18451998;18456723;18596570;18599870;18616619;18708744;18848812;18929244;18929331;19027780;19056759;19074138;19251209;19272188;19302788;19376164;19406745;19666841;19716085;20129283;20398673;21109022;21127204;21167176;21447824;21566136;21726068;21817159;21994374;22054663;22514276;22705208;22795782;23085483;23092124;23420830;23804213;24167619;24715725;24812278;24898004;25370050;25645385;26279430;26392562;26721415;26776555;28121444;28904123;29242379;29351928;29393594;29530619;29557506;29734505;30192525;30429286;31217245;32357974;32387766;32850980;32938616;33712541;33828490;33968037;35051231;35348702;35580925;36241641;37117223;37217939;38253038;38309503;38750908;38758505;39068398;40768348;7651517;7889574;8107964;8541846;9506831;9521325;9686753", "class_list": "", "function": "14-3-3epsilon/YWHAE regulates the transcriptional expression of cardiac sodium channel NaV1.5., [RefSeq, PubMed]; Genomic analysis of an Ecuadorian individual carrying an SCN5A rare variant. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of SCN5A alters metabolic-associated genes and aggravates hypertrophy in the cardiomyoblast. Erratum:[Mol Biol Rep. 2024 Jul 26;51(1):852. doi: 10.1007/s11033-024-09742-9. PMID: 39060789] Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; NEDD4L intramolecular interactions regulate its auto and substrate NaV1.5 ubiquitination., [RefSeq, PubMed]; Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes (PubMed:33712541, PubMed:40768348). Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient (PubMed:33712541, PubMed:40768348). The influx of Na(+) ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:1309946, PubMed:21447824, PubMed:23085483, PubMed:23420830, PubMed:25370050, PubMed:26279430, PubMed:26392562, PubMed:26776555). Nav1.5 is the predominant sodium channel expressed in myocardial cells and it is responsible for the initial upstroke of the action potential in cardiac myocytes, thereby initiating the heartbeat (PubMed:11234013, PubMed:11804990, PubMed:12569159, PubMed:1309946). Required for normal electrical conduction including formation of the infranodal ventricular conduction system and normal action potential configuration, as a result of its interaction with XIRP2 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 5, "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": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 126, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 19, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "A5H1P8;A6N922;A6N923;B2RTU0;E7ET19;E9PEF3;E9PEK2;E9PFW7;Q59H93;Q75RX9;Q75RY0;Q86UR3;Q8IZC9;Q96J69", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0086060 voltage-gated sodium channel activity involved in AV node cell action potential;GO:0086061 voltage-gated sodium channel activity involved in bundle of His cell action potential;GO:0086063 voltage-gated sodium channel activity involved in SA node cell action potential;GO:0005516 calmodulin binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization;GO:0086048 membrane depolarization during bundle of His cell action potential;GO:0003360 brainstem development;GO:0003231 cardiac ventricle development;GO:0051899 membrane depolarization", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "Q14524-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WYJ6-1", "uniprot_id": [ { "id": "SEPT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WYJ6", "type": "external" } ], "mass": 42386.0, "length": 372, "protein_name": "Septin-1", "gene_name": "SEPTIN1", "organism": "Human", "refseq_name": "septin-1", "refseq_ac": [ { "id": "NP_001352906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001352906", "type": "external" } ], "gene_names_uniprotkb": "SEPTIN1; DIFF6; PNUTL3; SEPT1", "gene_names_refseq": "DIFF6; LARP; PNUTL3; SEP1; SEPT1; SEPTIN1; Septin-1", "protein_names_uniprotkb": "Septin-1; LARP; Peanut-like protein 3; Serologically defined breast cancer antigen NY-BR-24", "protein_names_refseq": "differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase); peanut-like protein 3; septin-1; serologically defined breast cancer antigen NY-BR-24", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:1731)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;12747765;15915442;16179162;18991276;19690332;19799413;23783831;24275569;25418920;26375851;27920218;28063628;28228285;28514659;28832583;29242379;29393594;29632046;29632711;29786170;29789417;30315122;30709970;31530632;32157095;32897882;33968037;34357683;35051231;35561310;35580925;40914422", "class_list": "", "function": "Aurora-B binds and phosphorylates Septin1., [RefSeq, PubMed]; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential)., [UniProtKB]; Filament-forming cytoskeletal GTPase. May play a role in cytokinesis., [UniProtKB, UniProtKB]; SEPT1 function depends on the Golgi matrix protein GOLGA2 and on centrosomal proteins, including CEP170 and components of gamma-tubulin ring complex, to facilitate the perinuclear concentration of Golgi membranes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 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, "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": 5, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 0, "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": "B4DVE6;Q658T1;Q8NEZ1;Q96EL4;Q9H285", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005940 septin ring;GO:0005813 centrosome;GO:0015630 microtubule cytoskeleton;GO:0030496 midbody;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0008104 intracellular protein localization;GO:0061640 cytoskeleton-dependent cytokinesis;GO:0017157 regulation of exocytosis;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q8WYJ6-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5XXA6-1", "uniprot_id": [ { "id": "ANO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5XXA6", "type": "external" } ], "mass": 114078.0, "length": 986, "protein_name": "Anoctamin-1", "gene_name": "ANO1", "organism": "Human", "refseq_name": "anoctamin-1 isoform a", "refseq_ac": [ { "id": "NP_060513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060513", "type": "external" } ], "gene_names_uniprotkb": "ANO1; DOG1; ORAOV2; TAOS2; TMEM16A", "gene_names_refseq": "ANO1; DOG1; INDMS; MYMY7; ORAOV2; TAOS2; TMEM16A", "protein_names_uniprotkb": "Anoctamin-1; Discovered on gastrointestinal stromal tumors protein 1; Oral cancer overexpressed protein 2; Transmembrane protein 16A; Tumor-amplified and overexpressed sequence 2", "protein_names_refseq": "Ca2+-activated Cl- channel; anoctamin 1, calcium activated chloride channel; anoctamin-1 isoform a; calcium activated chloride channel; discovered on gastrointestinal stromal tumors protein 1; oral cancer overexpressed 2; transmembrane protein 16A (eight membrane-spanning domains); tumor-amplified and overexpressed sequence 2", "tax_id": 9606, "disease": "Moyamoya disease (Disease Ontology:DOID:13099); intestinal dysmotility syndrome (MONDO:MONDO:0859289); moyamoya disease 7 (MONDO:MONDO:0958202)", "pathway": " (hsa:55107); (R-HSA-2672351); (R-HSA-9733458)", "pathway_count": 3, "publication_count": 148, "publication_id_list": "10.1101/2023.09.13.557529;10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12739008;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15215166;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;16906560;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18648740;18662336;18724360;18772398;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20056604;20388639;20466723;20525693;20538786;21040849;21056985;21527911;21984732;22002868;22178883;22773952;22946059;2298749;23112050;2321095;23616951;24275569;24913262;25220078;2536303;25576301;26359375;26562072;27212225;27600516;28071645;28154142;28228285;28514659;28559167;28790369;28904123;28963502;29557506;29786170;29789417;30192525;31732694;31844290;32125455;32362314;32487539;32512386;32532959;32703818;32721790;32942285;33026825;33051876;33310888;33493182;33494095;33581114;33827113;33890572;33981976;34213849;34504087;34528721;34561887;34613786;34732583;34929169;35051231;35318648;35343766;36241641;37074911;37253099;38336104;38352864;38470063;38773164;39046409;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Ano1 regulates embryo transport by modulating intracellular calcium levels in oviduct smooth muscle., [RefSeq, PubMed]; Based on four cases, the DOG1 gene was found not to be mutated in gastrointestinal stromal tumors., [RefSeq, PubMed]; Calcium-activated chloride channel (CaCC) (PubMed:20056604, PubMed:22178883, PubMed:22946059, PubMed:32487539). Plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage development. Required for CFTR activation by enhancing endoplasmic reticulum Ca(2+) store release and is also required for CFTR membrane expression (PubMed:28963502). Required for basal and ATP-dependent mucus secretion in airways and intestine, probably by controlling exocytosis of mucus-filled granules by providing Ca(2+) to an apical signaling compartment (By similarity). Contributes to airway mucus expression induced by interleukins IL3 and IL8 and by the asthma-associated protein CLCA1 and is required for expression of mucin MUC5AC (PubMed:33026825). However, was shown in another study not to be required for MUC5AC expression (PubMed:31732694). Plays a role in the propagation of Ca(2+) waves in Kolliker's organ in the cochlea and contributes to the refinement of auditory brainstem circuitries prior to hearing onset (By similarity). In vomeronasal sensory neurons, modulates spontaneous firing patterns in the absence of stimuli as well as the firing pattern of pheromone-evoked activity (By similarity). Responsible for calcium-activated chloride channel activity in type I taste cells of the vallate papillae (By similarity). Acts as a heat sensor in nociceptive neurons (By similarity). In dorsal root ganglion neurons, plays a role in mediating non-histaminergic Mas-related G protein-coupled receptor (MRGPR)-dependent itching, acting as a downstream effector of MRGPRs (By similarity). In the developing brain, required for the Ca(2+)-dependent process extension of radial glial cells (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Calcium-activated chloride channel (CaCC). Contributes to calcium-activated chloride secretion in human sweat gland epithelial cells. Shows increased basal chloride permeability and decreased Ca(2+)-induced chloride permeability., [UniProtKB, PubMed]; Calcium-activated chloride channel (CaCC). Shows increased sensitivity to intracellular Ca(2+)., [UniProtKB, PubMed]; High ANO1 expression is a prognostic factor and correlated with an immunosuppressive tumor microenvironment in pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Promoter hypermethylation as a novel regulator of ANO1 expression and function in prostate cancer bone metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Results indicate that TMEM16A is an intrinsic constituent of the calcium-dependent chloride channel, [RefSeq, PubMed]; TMEM16A inhibits autophagy and promotes the invasion of hypopharyngeal squamous cell carcinoma through mTOR pathway., [RefSeq, PubMed]; This gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products and is amplified in various cancers, [RefSeq, PubMed]; [Expressions of zinc homeostasis proteins, GPR39 and ANO1 mRNA in the sperm of asthenozoospermia patients and their 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": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0A2H4Y9B2;A8KAM3;E9PNA7;Q8IYY8;Q8N7V3", "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:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0005227 calcium-activated cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0034707 chloride channel complex;GO:0098793 presynapse", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:0034605 cellular response to heat;GO:0050965 detection of temperature stimulus involved in sensory perception of pain;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0070254 mucus secretion", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q5XXA6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05090-1", "uniprot_id": [ { "id": "APOD_HUMAN", "url": "https://www.uniprot.org/uniprot/P05090", "type": "external" } ], "mass": 21276.0, "length": 189, "protein_name": "Apolipoprotein D", "gene_name": "APOD", "organism": "Human", "refseq_name": "apolipoprotein D precursor", "refseq_ac": [ { "id": "NP_001638", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001638", "type": "external" } ], "gene_names_uniprotkb": "APOD", "gene_names_refseq": "APOD", "protein_names_uniprotkb": "Apolipoprotein D; Apo-D; ApoD", "protein_names_refseq": "apo-D; apolipoprotein D precursor", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); Alzheimer's disease (Disease Ontology:DOID:10652); gestational diabetes (Disease Ontology:DOID:11714); status epilepticus (Disease Ontology:DOID:1824); vasculogenic impotence (Disease Ontology:DOID:4762); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:347); (R-HSA-804914); (R-HSA-9029569)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "37268159;10.1101/2023.09.13.557529;10391209;10518211;10858438;11149950;11237011;11500512;11604492;11875109;12032151;12150943;12235169;12454263;12556534;12612088;14703507;14760718;14764426;15147902;15240697;16335952;16504339;17186944;18782758;19139490;19159218;19481530;19531498;19838169;19946382;20124557;20466882;20466885;20494359;20566875;2083249;20855588;21081667;21187453;21310851;21507939;22171320;2244881;22541735;22673513;23496987;23519696;23790976;24190977;2439269;24530628;26375851;26984517;27452731;27600516;28082258;28657654;28842423;28869506;29242379;29391424;29557506;29671580;29741879;29772548;30237853;30429286;31844290;32125861;32157095;32162841;32350084;32921312;32983136;33514021;33592498;3453108;34932366;35051231;35154160;35561310;36241641;36571249;37074911;37728985;38665916;40596516;7613477;7684291;7918467;8549691;9878842", "class_list": "", "function": "APOD acts on fibroblast-like synoviocyte and chondrocyte to alleviate the process of osteoarthritis in vitro., [RefSeq, PubMed]; APOD occurs in the macromolecular complex with lecithin-cholesterol acyltransferase. It is probably involved in the transport and binding of bilin. Appears to be able to transport a variety of ligands in a number of different contexts., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Enrichment of apolipoprotein A-IV and apolipoprotein D in the HDL proteome is associated with HDL functions in diabetic kidney disease without dialysis. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of Apolipoprotein D as a Dermal Fibroblast Marker of Human Aging for Development of Skin Rejuvenation Therapy., [RefSeq, PubMed]; Neuroprotective Effect of Apolipoprotein D in Cuprizone-Induced Cell Line Models: A Potential Therapeutic Approach for Multiple Sclerosis and Demyelinating Diseases. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 216, "disease_count": 7, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R579;D3DNW6;Q6IBG6", "ec_number_list": [], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0015485 cholesterol binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0001525 angiogenesis;GO:0006629 lipid metabolic process;GO:0007420 brain development;GO:0006006 glucose metabolic process;GO:0051895 negative regulation of focal adhesion assembly", "synthesized_glycan_count": 0, "hit_score": 31.3, "record_id": "P05090-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8J025-1", "uniprot_id": [ { "id": "APCD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8J025", "type": "external" } ], "mass": 58797.0, "length": 514, "protein_name": "Protein APCDD1", "gene_name": "APCDD1", "organism": "Human", "refseq_name": "protein APCDD1 precursor", "refseq_ac": [ { "id": "NP_694545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694545", "type": "external" } ], "gene_names_uniprotkb": "APCDD1; DRAPC1; FP7019", "gene_names_refseq": "APCDD1; B7323; DRAPC1; FP7019; HHS; HTS; HYPT1", "protein_names_uniprotkb": "Protein APCDD1; Adenomatosis polyposis coli down-regulated 1 protein", "protein_names_refseq": "adenomatosis polyposis coli down-regulated 1 protein; hypoptrichosis simplex; protein APCDD1 precursor; protein APCDD1", "tax_id": 9606, "disease": "hypotrichosis 1 (Disease Ontology:DOID:0110698); hypotrichosis (Disease Ontology:DOID:4535)", "pathway": " (hsa:147495)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12384519;15498874;20393562;21152411;22512811;28218747;28242765;28698141;30496486;31848261;32157095;33673279;36241641", "class_list": "", "function": "APCDD1 is a novel inhibitor of the Wnt signalling pathway with an essential role in human hair growth, [RefSeq, PubMed]; Data show that the methylated VAPA-APCDD1 DNA in maternal plasma is predominantly derived from the fetus, and this novel fetal epigenetic marker in maternal plasma is useful for the noninvasive detection of fetal trisomy 18. Publication Status: Online-Only, [RefSeq, PubMed]; Mutation in the APCDD1 gene is responsible for hereditary hypotrichosis simplex in a large Chinese family., [RefSeq, PubMed]; Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. May play a role in colorectal tumorigenesis., [UniProtKB, PubMed, PubMed]; These novel findings suggest that APCDD1 positively regulates adipogenic differentiation and that its down-regulation by miR-130 during diet-induced obesity may contribute to impaired adipogenic differentiation and obesity-related metabolic disease., [RefSeq, PubMed]; This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]., [RefSeq]; Through integrative analysis, we identify MEIS1 as a super-enhancer-driven oncogene, which co-operates with EWS-FLI1 in transcriptional regulation, and plays a key pro-survival role in Ewing sarcoma. Moreover, APCDD1, another super-enhancer-associated gene, acting as a downstream target of both MEIS1 and EWS-FLI1, is also characterized as a novel tumor-promoting factor in this malignancy, [RefSeq, PubMed]; Thus, we have provided the first evidence that APCDD1 expression is epigenetically silenced in OS, which may facilitate invasion and metastasis of OS cells., [RefSeq, PubMed]; Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer. 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DUQ0;B4DZT0;Q71M25", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0016055 Wnt signaling pathway;GO:0001942 hair follicle development;GO:0030178 negative regulation of Wnt signaling pathway;GO:0042487 regulation of odontogenesis of dentin-containing tooth", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8J025-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53EZ4-1", "uniprot_id": [ { "id": "CEP55_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53EZ4", "type": "external" } ], "mass": 54178.0, "length": 464, "protein_name": "Centrosomal protein of 55 kDa", "gene_name": "CEP55", "organism": "Human", "refseq_name": "centrosomal protein of 55 kDa", "refseq_ac": [ { "id": "NP_001120654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120654", "type": "external" } ], "gene_names_uniprotkb": "CEP55; C10orf3; URCC6", "gene_names_refseq": "C10orf3; CEP55; CT111; MARCH; URCC6", "protein_names_uniprotkb": "Centrosomal protein of 55 kDa; Cep55; Up-regulated in colon cancer 6", "protein_names_refseq": "cancer/testis antigen 111; centrosomal protein 55kDa; centrosomal protein of 55 kDa; up-regulated in colon cancer 6", "tax_id": 9606, "disease": "Meckel syndrome (Disease Ontology:DOID:0050778); multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly (Disease Ontology:DOID:0080327); hydranencephaly (Disease Ontology:DOID:4626)", "pathway": " (hsa:55165)", "pathway_count": 1, "publication_count": 96, "publication_id_list": "11237011;16198290;16385451;16406728;16790497;16964243;17081983;17237822;17556548;17853893;18452278;18641129;18669648;18691976;18767875;18948538;19413330;19415658;19664994;19691289;20068231;21079244;21310966;23186163;23481700;24366607;24715725;25418920;25576301;25659891;25892735;26154972;26992070;27600516;27846572;27862975;27920218;28228285;28264986;28295209;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29743530;29769354;29786170;29789417;30315122;30484775;30833945;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34932366;35051231;35318648;35580925;36010968;36215666;36284347;36825683;37217939;39197215;41361016", "class_list": "", "function": "By forming a complex with phosphatidylinositol 3'-kinase, FLJ10540 activates the PI3-kinase/AKT proto-oncogene protein pathways, providing a mechanistic basis for FLJ10540-mediated oncogenesis., [RefSeq, PubMed]; Data suggest a possible involvement of CEP55 in centrosome-dependent cellular functions, such as centrosome duplication and/or cell cycle progression, or in the regulation of cytokinesis, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in mitotic exit and cytokinesis (PubMed:16198290, PubMed:17853893). Recruits PDCD6IP and TSG101 to midbody during cytokinesis. Required for successful completion of cytokinesis (PubMed:17853893). Not required for microtubule nucleation (PubMed:16198290). Plays a role in the development of the brain and kidney (PubMed:28264986)., [UniProtKB, PubMed, PubMed, PubMed]; Plays a role in mitotic exit and cytokinesis. Recruits PDCD6IP and TSG101 to midbody during cytokinesis. Required for successful completion of cytokinesis. Not required for microtubule nucleation. Plays a role in the development of the brain and kidney., [UniProtKB, UniProtKB]; SPI1-mediated transcriptional activation of CEP55 promotes the malignant growth of triple-negative breast cancer and M2 macrophage polarization., [RefSeq, PubMed]; This study defines a cellular mechanism that links centralspindlin to Cep55, which, in turn, controls the midbody structure and membrane fusion at the terminal stage of cytokinesis., [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": 10, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDG8;D3DR37;Q32WF5;Q3MV20;Q5VY28;Q6N034;Q96H32;Q9NVS7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0016020 membrane;GO:0045171 intercellular bridge;GO:0032154 cleavage furrow", "go_biological_process": "GO:0051896 regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:1904888 cranial skeletal system development;GO:0045184 establishment of protein localization;GO:0000281 mitotic cytokinesis;GO:0061952 midbody abscission", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q53EZ4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40337-1", "uniprot_id": [ { "id": "VHL_HUMAN", "url": "https://www.uniprot.org/uniprot/P40337", "type": "external" } ], "mass": 24153.0, "length": 213, "protein_name": "von Hippel-Lindau disease tumor suppressor", "gene_name": "VHL", "organism": "Human", "refseq_name": "von Hippel-Lindau disease tumor suppressor isoform 1", "refseq_ac": [ { "id": "NP_000542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000542", "type": "external" } ], "gene_names_uniprotkb": "VHL", "gene_names_refseq": "HRCA1; RCA1; VHL1; VHL; pVHL", "protein_names_uniprotkb": "von Hippel-Lindau disease tumor suppressor; Protein G7; pVHL", "protein_names_refseq": "elongin binding protein; protein G7; von Hippel-Lindau disease tumor suppressor isoform 1; von Hippel-Lindau disease tumor suppressor; von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "nonpapillary renal cell carcinoma (Disease Ontology:DOID:0050387); pheochromocytoma (Disease Ontology:DOID:0050771); familial erythrocytosis 2 (Disease Ontology:DOID:0060474); Parkinsonism (Disease Ontology:DOID:0080855); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); von Hippel-Lindau disease (Disease Ontology:DOID:14175); pancreatic cancer (Disease Ontology:DOID:1793); nephroblastoma (Disease Ontology:DOID:2154); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); renal cell carcinoma (Disease Ontology:DOID:4450); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); hepatocellular carcinoma (Disease Ontology:DOID:684); polycythemia (Disease Ontology:DOID:8432); sudden infant death syndrome (Disease Ontology:DOID:9007); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7428); (R-HSA-1234176); (R-HSA-3232142); (R-HSA-8951664); (R-HSA-9682706); (R-HSA-9694686); (R-HSA-9706019); (R-HSA-983168)", "pathway_count": 8, "publication_count": 263, "publication_id_list": "10205047;10408776;10533030;10535940;10597293;10627136;10635329;10811609;10823831;10878807;10944113;10973499;11024059;11062501;11069780;11237011;11259415;11292861;11292862;11331612;11350924;11358837;11384984;11454738;11504942;11585840;11598268;11641274;11733065;11739384;11961546;11986208;12000816;12004076;12032852;12050673;12101228;12169691;12186903;12202531;12351678;12393546;12393906;12504025;12504026;12510195;12526791;12538644;12609982;12615973;12646216;12682069;12759363;12788921;12807974;12816948;12821933;12844285;12912907;14500403;14690597;14734113;14757770;15224091;15224092;15247232;15282312;15361859;15367669;15474027;15537541;15571818;15572695;15574592;15601839;15652483;15652751;15688063;15694336;15799966;15987702;16171779;16234850;16401342;16502427;16547496;16595681;16647857;16707496;16738327;16790436;16847331;16849449;16943200;16954532;17081101;17132228;17182618;17183367;17220875;17332328;17344846;17434750;17497243;17785452;17981124;18093314;18184961;18206966;18337469;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19019082;19028597;19208626;19224332;19250909;19321346;19352404;19452197;19489725;19490898;19584355;19617556;19748355;19851334;19874575;19940261;20300531;20637892;20972456;21212839;21335549;21447816;21463634;21778237;21863050;21940857;22071692;22245496;22286099;22301153;22306028;22362731;22466964;22537386;2261476;22645359;22709582;22959436;23201271;23255108;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23785518;23912815;23986495;24002598;24076655;24145166;24366543;24636985;24714562;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25576301;25732088;26215701;26344709;26460955;26632597;26811146;26906416;26929215;26992070;27030794;27222660;27565346;27846572;27920218;28063628;28115426;28218747;28832583;28834231;28904123;29153394;29242379;29393594;29437277;29493099;29508533;29632046;29769354;29786170;30315122;30410026;30429286;30610225;30943211;31530632;31844290;32005965;32157095;32265295;32284348;32387766;32983136;33298915;33444648;33936100;33968037;33981976;34290272;34357683;34932366;35580925;36241641;39047034;39362887;39382421;7660130;7728151;7977367;7987306;8069849;8183553;8493574;8592333;8707293;8730290;8733131;8825918;8956040;9122164;9380723;9452032;9452106;9663592;9668046;9671762;9681856;9751722;9790970;9829911;9829912;9887101;9891082", "class_list": "", "function": "Clinical implications of activation of the LIMD1-VHL-HIF1alpha pathway during head-&-neck squamous cell carcinoma development., [RefSeq, PubMed]; Induction of the Mdm2 gene and protein by kinase signaling pathways is repressed by the pVHL tumor suppressor., [RefSeq, PubMed]; Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex (PubMed:10944113, PubMed:17981124, PubMed:19584355). Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions (PubMed:10944113, PubMed:17981124). Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases (PubMed:10944113, PubMed:17981124). Ubiquitinates, in an oxygen-responsive manner, ADRB2 (PubMed:19584355). Acts as a negative regulator of mTORC1 by promoting ubiquitination and degradation of RPTOR (PubMed:34290272)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Network modeling links kidney developmental programs and the cancer type-specificity of VHL mutations. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. In addition to oxygen-related gene expression, this protein plays a role in many other cellular processes including cilia formation, cytokine signaling, regulation of senescence, and formation of the extracellular matrix. Variants of this gene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022]., [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": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 16, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RE45;Q13599;Q6PDA9", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019899 enzyme binding;GO:0003714 transcription corepressor activity;GO:0004842 ubiquitin-protein transferase activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006508 proteolysis;GO:0008285 negative regulation of cell population proliferation;GO:0010629 negative regulation of gene expression;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 26.4, "record_id": "P40337-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TAQ9-1", "uniprot_id": [ { "id": "DCAF8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TAQ9", "type": "external" } ], "mass": 66852.0, "length": 597, "protein_name": "DDB1- and CUL4-associated factor 8", "gene_name": "DCAF8", "organism": "Human", "refseq_name": "DDB1- and CUL4-associated factor 8", "refseq_ac": [ { "id": "NP_056541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056541", "type": "external" } ], "gene_names_uniprotkb": "DCAF8; H326; WDR42A", "gene_names_refseq": "DCAF8; GAN2; H326; WDR42A", "protein_names_uniprotkb": "DDB1- and CUL4-associated factor 8; WD repeat-containing protein 42A", "protein_names_refseq": "DDB1- and CUL4-associated factor 8; WD repeat domain 42A; WD repeat-containing protein 42A", "tax_id": 9606, "disease": "giant axonal neuropathy 2 (Disease Ontology:DOID:0090069)", "pathway": " (hsa:50717); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 186, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16115862;16171779;16401342;16547496;16647857;16707496;16790436;16943200;16949367;16964240;17081101;17081983;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18491316;18669648;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19651622;19748355;20068231;20166139;21424732;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22500989;22537386;22959436;23201271;23333871;23401859;23453757;23455924;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24500646;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25645385;25802875;25880248;26154972;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27846572;27920218;28063628;28115426;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28904123;29153394;29242379;29331515;29393594;29437277;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30610225;31154438;31217245;31530632;31844290;31848261;32005965;32157095;32161166;32284348;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33444648;33537174;33592498;33912179;33968037;34087483;34171305;34185709;34509645;34561969;34932366;35051231;35251023;35280675;35318648;35580925;36010968;36284347;37938771;9790970;9887101;9891082", "class_list": "", "function": "CRL4-DCAF8L1 Regulates BRCA1 and BARD1 Protein Stability. Publication Status: Online-Only, [RefSeq, PubMed]; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex., [UniProtKB, PubMed, PubMed]; This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]., [RefSeq]; While RNF10 and WDR42A or VP22 alone showed distinct subcellular localization patterns, RNF10 and WDR42A were relocated when co-expressed with VP22 or its homologues; these potential host cell factors of VP22 might expand the list of host targets of VP22, [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": 6, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 3, "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": "D3DVE6;Q12839;Q4QQI6;Q53F14;Q66K50;Q68CS7;Q96E00", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0080008 Cul4-RING E3 ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0040029 epigenetic regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "Q5TAQ9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08211-1", "uniprot_id": [ { "id": "DHX9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08211", "type": "external" } ], "mass": 140958.0, "length": 1270, "protein_name": "ATP-dependent RNA helicase A", "gene_name": "DHX9", "organism": "Human", "refseq_name": "ATP-dependent RNA helicase A", "refseq_ac": [ { "id": "NP_001348", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001348", "type": "external" } ], "gene_names_uniprotkb": "DHX9; DDX9; LKP; NDH2", "gene_names_refseq": "DDX9; DHX9; LKP; MRD75; NDH2; NDHII; RHA", "protein_names_uniprotkb": "ATP-dependent RNA helicase A; 3.6.4.13; DEAH box protein 9; DExH-box helicase 9; LKP; Leukophysin; NDH II; Nuclear DNA helicase II; RNA helicase A", "protein_names_refseq": "ATP-dependent RNA helicase A; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9; DEAH (Asp-Glu-Ala-His) box helicase 9; DEAH (Asp-Glu-Ala-His) box polypeptide 9; DEAH box protein 9; DEAH-box helicase 9; RNA helicase A; leukophysin; nuclear DNA helicase II", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 75 (Disease Ontology:DOID:0061048); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:1660); (R-HSA-1810476); (R-HSA-3134963); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9833482); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 464, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Plays a role in HIV-1 replication and virion infectivity (PubMed:11096080, PubMed:19229320, PubMed:25149208, PubMed:27107641). Enhances HIV-1 transcription by facilitating the binding of RNA polymerase II holoenzyme to the proviral DNA (PubMed:11096080, PubMed:25149208). Binds (via DRBM domain 2) to the HIV-1 TAR RNA and stimulates HIV-1 transcription of transactivation response element (TAR)-containing mRNAs (PubMed:11096080, PubMed:9892698). Involved also in HIV-1 mRNA splicing and transport (PubMed:25149208). Positively regulates HIV-1 gag mRNA translation, through its binding to post-transcriptional control element (PCE) in the 5'-untranslated region (UTR) (PubMed:16680162). Binds (via DRBM domains) to a HIV-1 double-stranded RNA region of the primer binding site (PBS)-segment of the 5'-UTR, and hence stimulates DHX9 incorporation into virions and virion infectivity (PubMed:27107641). Also plays a role as a cytosolic viral MyD88-dependent DNA and RNA sensors in plasmacytoid dendritic cells (pDCs), and hence induce antiviral innate immune responses (PubMed:20696886, PubMed:21957149). Binds (via the OB-fold region) to viral single-stranded DNA unmethylated C-phosphate-G (CpG) oligonucleotide (PubMed:20696886)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; AURKB targets DHX9 to promote hepatocellular carcinoma progression via PI3K/AKT/mTOR pathway., [RefSeq, PubMed]; Cooperation between SIX1 and DHX9 transcriptionally regulates integrin-focal adhesion signaling mediated metastasis and sunitinib resistance in KIRC., [RefSeq, PubMed]; DHX9 maintains epithelial homeostasis by restraining R-loop-mediated genomic instability in intestinal stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Induction of Viral Mimicry Upon Loss of DHX9 and ADAR1 in Breast Cancer Cells., [RefSeq, PubMed]; Multifunctional ATP-dependent nucleic acid helicase that unwinds DNA and RNA in a 3' to 5' direction and that plays important roles in many processes, such as DNA replication, transcriptional activation, post-transcriptional RNA regulation, mRNA translation and RNA-mediated gene silencing (PubMed:11416126, PubMed:12711669, PubMed:15355351, PubMed:16680162, PubMed:17531811, PubMed:20669935, PubMed:21561811, PubMed:24049074, PubMed:24990949, PubMed:25062910, PubMed:28221134, PubMed:9111062, PubMed:37467750). Requires a 3'-single-stranded tail as entry site for acid nuclei unwinding activities as well as the binding and hydrolyzing of any of the four ribo- or deoxyribo-nucleotide triphosphates (NTPs) (PubMed:1537828). Unwinds numerous nucleic acid substrates such as double-stranded (ds) DNA and RNA, DNA:RNA hybrids, DNA and RNA forks composed of either partially complementary DNA duplexes or DNA:RNA hybrids, respectively, and also DNA and RNA displacement loops (D- and R-loops), triplex-helical DNA (H-DNA) structure and DNA and RNA-based G-quadruplexes (PubMed:20669935, PubMed:21561811, PubMed:24049074). Binds dsDNA, single-stranded DNA (ssDNA), dsRNA, ssRNA and poly(A)-containing RNA (PubMed:10198287, PubMed:9111062). Also binds to circular dsDNA or dsRNA of either linear and/or circular forms and stimulates the relaxation of supercoiled DNAs catalyzed by topoisomerase TOP2A (PubMed:12711669). Plays a role in DNA replication at origins of replication and cell cycle progression (PubMed:24990949). Plays a role as a transcriptional coactivator acting as a bridging factor between polymerase II holoenzyme and transcription factors or cofactors, such as BRCA1, CREBBP, RELA and SMN1 (PubMed:11038348, PubMed:11149922, PubMed:11416126, PubMed:15355351, PubMed:28221134, PubMed:9323138, PubMed:9662397). Binds to the CDKN2A promoter (PubMed:11038348). Plays several roles in post-transcriptional regulation of gene expression (PubMed:28221134, PubMed:28355180). In cooperation with NUP98, promotes pre-mRNA alternative splicing activities of a subset of genes (PubMed:11402034, PubMed:16680162, PubMed:28221134, PubMed:28355180). As component of a large PER complex, is involved in the negative regulation of 3' transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms (By similarity). Also acts as a nuclear resolvase that is able to bind and neutralize harmful massive secondary double-stranded RNA structures formed by inverted-repeat Alu retrotransposon elements that are inserted and transcribed as parts of genes during the process of gene transposition (PubMed:28355180). Involved in the positive regulation of nuclear export of constitutive transport element (CTE)-containing unspliced mRNA (PubMed:10924507, PubMed:11402034, PubMed:9162007). Component of the coding region determinant (CRD)-mediated complex that promotes cytoplasmic MYC mRNA stability (PubMed:19029303). Plays a role in mRNA translation (PubMed:28355180). Positively regulates translation of selected mRNAs through its binding to post-transcriptional control element (PCE) in the 5'-untranslated region (UTR) (PubMed:16680162). Involved with LARP6 in the translation stimulation of type I collagen mRNAs for CO1A1 and CO1A2 through binding of a specific stem-loop structure in their 5'-UTRs (PubMed:22190748). Stimulates LIN28A-dependent mRNA translation probably by facilitating ribonucleoprotein remodeling during the process of translation (PubMed:21247876). Plays also a role as a small interfering (siRNA)-loading factor involved in the RNA-induced silencing complex (RISC) loading complex (RLC) assembly, and hence functions in the RISC-mediated gene silencing process (PubMed:17531811). Binds preferentially to short double-stranded RNA, such as those produced during rotavirus intestinal infection (PubMed:28636595). This interaction may mediate NLRP9 inflammasome activation and trigger inflammatory response, including IL18 release and pyroptosis (PubMed:28636595). Finally, mediates the attachment of heterogeneous nuclear ribonucleoproteins (hnRNPs) to actin filaments in the nucleus (PubMed:11687588)., [UniProtKB, 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]; The pseudogene GBP1P1 suppresses influenza A virus replication by acting as a protein decoy for DHX9., [RefSeq, PubMed]; This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010]., [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": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 30, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RNV4;Q05CI5;Q12803;Q32Q22;Q5VY62;Q6PD69;Q99556", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "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": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003688 DNA replication origin binding;GO:0043138 3'-5' DNA helicase activity;GO:0001069 regulatory region RNA binding;GO:0045142 triplex DNA binding;GO:0061676 importin-alpha family protein binding", "go_cellular_component": "GO:0005726 perichromatin fibrils;GO:0097165 nuclear stress granule;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0071360 cellular response to exogenous dsRNA;GO:0032727 positive regulation of interferon-alpha production;GO:1903608 protein localization to cytoplasmic stress granule;GO:0032741 positive regulation of interleukin-18 production;GO:0039695 DNA-templated viral transcription", "synthesized_glycan_count": 0, "hit_score": 47.2, "record_id": "Q08211-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13426-1", "uniprot_id": [ { "id": "XRCC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13426", "type": "external" } ], "mass": 38287.0, "length": 336, "protein_name": "DNA repair protein XRCC4", "gene_name": "XRCC4", "organism": "Human", "refseq_name": "DNA repair protein XRCC4 isoform 2", "refseq_ac": [ { "id": "NP_001304941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304941", "type": "external" } ], "gene_names_uniprotkb": "XRCC4", "gene_names_refseq": "SSMED; XRCC4; hXRCC4", "protein_names_uniprotkb": "DNA repair protein XRCC4; X-ray repair cross-complementing protein 4; hXRCC4", "protein_names_refseq": "DNA repair protein XRCC4 isoform 2; DNA repair protein XRCC4; X-ray repair complementing defective repair in Chinese hamster cells 4", "tax_id": 9606, "disease": "salivary gland carcinoma (Disease Ontology:DOID:0050904); salivary gland adenoid cystic carcinoma (Disease Ontology:DOID:4866); multiple myeloma (Disease Ontology:DOID:9538); short stature, microcephaly, and endocrine dysfunction (MONDO:MONDO:0014686)", "pathway": " (hsa:7518); (R-HSA-164843); (R-HSA-3108214); (R-HSA-5693571)", "pathway_count": 4, "publication_count": 187, "publication_id_list": "10572166;10574707;10757784;10854421;10922471;11080143;11493912;11604075;11702069;11792325;11889051;11955432;12023295;12077346;12186630;12218164;12231622;12509254;12517771;12547193;12897153;12947387;14561766;14599745;14607114;15175327;15177042;15355988;15380105;15385968;15451442;15468306;15574327;15608651;15723659;15823533;15829507;15940266;15959518;16030353;16061182;16093244;16291214;16412978;16439204;16439205;16478998;16600297;16608850;16626738;16688858;16810316;16874298;16914548;17081983;17124166;17290226;17353262;17396150;17470781;17567543;17693435;18046455;18077224;18158905;18397950;18452278;18625722;18669648;18691969;18708356;19287951;19332554;19505854;19596686;19622798;19690332;19706679;19779455;19837014;19956565;20016594;20016603;20068231;20190268;20558749;20705237;20811692;20852255;21098080;21147198;21284855;21550342;21768349;21775435;21936820;21982441;22102241;22179609;22228831;22287571;22508508;22529269;22635276;22658747;22661230;22751501;23186163;23306437;23333306;23505375;23727112;23750026;23871147;24027577;24236237;24275569;24389050;24782567;24984242;25114211;25218447;25512557;25574025;25576301;25597996;25670504;25728776;25742519;25818648;25839420;25841101;25872942;25880248;25934149;25941166;26100018;26255102;26666690;26758079;26774286;27437582;28453785;28500754;28832583;29059378;29242379;29557506;29632046;29789417;30247612;30250067;30315122;30429286;30779550;31548606;31844290;32157095;32161166;32357974;32502341;32524007;32938616;33725486;33854234;33981976;34352203;34932366;35051231;35580925;36241641;36284347;37938771;39151475;39408734;40914422;8422676;8548796;9242410;9259561;9412458;9430729;9452416;9512523;9756909;9826654;9885291", "class_list": "", "function": "Acts as an activator of the phospholipid scramblase activity of XKR4 (PubMed:33725486). This form, which is generated upon caspase-3 (CASP3) cleavage, translocates into the cytoplasm and interacts with XKR4, thereby promoting phosphatidylserine scramblase activity of XKR4 and leading to phosphatidylserine exposure on apoptotic cell surface (PubMed:33725486)., [UniProtKB, PubMed]; Critical residues in the Ku70 von Willebrand A domain mediate Ku interaction with the LigIV-XRCC4 complex in non-homologous end-joining., [RefSeq, PubMed]; Crosstalk between BER and NHEJ in XRCC4-Deficient Cells Depending on hTERT Overexpression. Publication Status: Online-Only, [RefSeq, PubMed]; DNA non-homologous end joining (NHEJ) core factor, required for double-strand break repair and V(D)J recombination (PubMed:10757784, PubMed:10854421, PubMed:12517771, PubMed:16412978, PubMed:17124166, PubMed:17290226, PubMed:22228831, PubMed:25597996, PubMed:25742519, PubMed:25934149, PubMed:26100018, PubMed:26774286, PubMed:8548796). Acts as a scaffold protein that regulates recruitment of other proteins to DNA double-strand breaks (DSBs) (PubMed:15385968, PubMed:20852255, PubMed:26774286, PubMed:27437582). Associates with NHEJ1/XLF to form alternating helical filaments that bridge DNA and act like a bandage, holding together the broken DNA until it is repaired (PubMed:21768349, PubMed:21775435, PubMed:22287571, PubMed:26100018, PubMed:27437582, PubMed:28500754). The XRCC4-NHEJ1/XLF subcomplex binds to the DNA fragments of a DSB in a highly diffusive manner and robustly bridges two independent DNA molecules, holding the broken DNA fragments in close proximity to one other (PubMed:27437582). The mobility of the bridges ensures that the ends remain accessible for further processing by other repair factors (PubMed:27437582). Plays a key role in the NHEJ ligation step of the broken DNA during DSB repair via direct interaction with DNA ligase IV (LIG4): the LIG4-XRCC4 subcomplex reseals the DNA breaks after the gap filling is completed (PubMed:10757784, PubMed:10854421, PubMed:12517771, PubMed:17290226, PubMed:19837014, PubMed:9242410). XRCC4 stabilizes LIG4, regulates its subcellular localization and enhances LIG4's joining activity (PubMed:10757784, PubMed:10854421, PubMed:12517771, PubMed:17290226, PubMed:21982441, PubMed:22228831, PubMed:9242410). Binding of the LIG4-XRCC4 subcomplex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends (PubMed:10757784, PubMed:10854421). Promotes displacement of PNKP from processed strand break termini (PubMed:20852255, PubMed:28453785)., [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]; The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]., [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": 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": 15, "reported_mutagensis": 60, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K3X4;Q9BS72;Q9UP94", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0019899 enzyme binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0070975 FHA domain binding", "go_cellular_component": "GO:0070419 nonhomologous end joining complex;GO:0032807 DNA ligase IV complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:0006284 base-excision repair;GO:0006302 double-strand break repair;GO:0006303 double-strand break repair via nonhomologous end joining;GO:0010165 response to X-ray", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "Q13426-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Y13-1", "uniprot_id": [ { "id": "DZIP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Y13", "type": "external" } ], "mass": 138604.0, "length": 1208, "protein_name": "E3 ubiquitin-protein ligase DZIP3", "gene_name": "DZIP3", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase DZIP3", "refseq_ac": [ { "id": "NP_055463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055463", "type": "external" } ], "gene_names_uniprotkb": "DZIP3; KIAA0675", "gene_names_refseq": "DZIP3; PPP1R66; UURF2; hRUL138", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase DZIP3; 2.3.2.27; DAZ-interacting protein 3; RING-type E3 ubiquitin transferase DZIP3; RNA-binding ubiquitin ligase of 138 kDa; hRUL138", "protein_names_refseq": "DAZ interacting protein 3, zinc finger; DAZ-interacting protein 3; E3 ubiquitin-protein ligase DZIP3; RING-type E3 ubiquitin transferase DZIP3; RNA-binding RING-H2 protein-ubiquitin ligase; UURF2 ubiquitin ligase; human RNA-binding ubiquitin ligase of 138 kDa; protein phosphatase 1, regulatory subunit 66; zinc finger DAZ interacting protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9666); (R-HSA-983168)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "11062501;11237011;11350924;12511597;12538761;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18206970;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2261476;23481700;24714562;25418920;25576301;25645385;25880248;26154972;26811146;26929215;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29557506;29632046;29786170;30192525;30315122;30410026;30429286;30779550;31154438;31217245;31530632;31844290;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32897882;32938616;33067265;33229627;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34211107;34405274;34932366;35051231;35580925;36010968;36241641;36841324;37938771;39894887;40307207;9380723;9668046", "class_list": "", "function": "By monoubiquitination of H2A at lysine 119, 2A-HUB mediates a selective repression of a specific set of chemokine genes in macrophages, critically modulating migratory responses to TLR activation., [RefSeq, PubMed]; DZIP3 is a key factor to stratify IDH1 wild-type lower-grade gliomas., [RefSeq, PubMed]; E3 Ubiquitin ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Able to specifically bind RNA., [UniProtKB, PubMed]; Proteomic analysis of DZIP3 interactome and its role in proliferation and metastasis in gastric cancer cells., [RefSeq, PubMed]; RNA-Binding RING E3-Ligase DZIP3/hRUL138 Stabilizes Cyclin D1 to Drive Cell-Cycle and Cancer Progression., [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": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 25, "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": "B3KN01;O75162;Q6P3R9;Q6PH82;Q86Y14;Q86Y15;Q86Y16;Q8IWI0;Q96RS9", "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:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0000209 protein polyubiquitination;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q86Y13-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYY4-1", "uniprot_id": [ { "id": "DZI1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYY4", "type": "external" } ], "mass": 86848.0, "length": 767, "protein_name": "Cilium assembly protein DZIP1L", "gene_name": "DZIP1L", "organism": "Human", "refseq_name": "cilium assembly protein DZIP1L isoform 2", "refseq_ac": [ { "id": "NP_001164009", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164009", "type": "external" } ], "gene_names_uniprotkb": "DZIP1L", "gene_names_refseq": "DZIP1L; DZIP2; PKD5", "protein_names_uniprotkb": "Cilium assembly protein DZIP1L; DAZ-interacting zinc finger protein 1-like", "protein_names_refseq": "DAZ interacting protein 1-like; DAZ-interacting protein 1-like protein; cilium assembly protein DZIP1L isoform 2; cilium assembly protein DZIP1L; zinc finger protein DZIP1L", "tax_id": 9606, "disease": "polycystic kidney disease 5 (Disease Ontology:DOID:0080273); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861)", "pathway": " (hsa:199221)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;19852954;28530676;28736432;29393594;29557506;31844290;32157095;32475690;32938616;35051231;35211789;36010968;36284347;39894887", "class_list": "", "function": "Cilia and polycystic kidney disease. Review article, [RefSeq, PubMed]; DZIP1L plays a role in the pathogenesis of autosomal recessive polycystic kidney disease through impact on the ciliary transition zone., [RefSeq, PubMed]; Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease., [RefSeq, PubMed]; Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:28530676)., [UniProtKB, PubMed, PubMed]; Mutations in DZIP1L were characterized in patients with ARPKD. The ciliary-membrane translocation of the PKD proteins polycystin-1 and polycystin-2 is compromised in DZIP1L-mutant cells. This is the first conclusive evidence that ARPKD is not a homogeneous disorder and further establishes DZIP1L as a second gene involved in ARPKD pathogenesis., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "C9JUG5;Q96M38", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005814 centriole;GO:0005930 axoneme;GO:0036064 ciliary basal body", "go_biological_process": "GO:0032880 regulation of protein localization;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8IYY4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63218-1", "uniprot_id": [ { "id": "GBG5_HUMAN", "url": "https://www.uniprot.org/uniprot/P63218", "type": "external" } ], "mass": 7318.0, "length": 68, "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5", "gene_name": "GNG5", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5", "refseq_ac": [ { "id": "NP_005265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005265", "type": "external" } ], "gene_names_uniprotkb": "GNG5; GNGT5", "gene_names_refseq": "GNG5", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5", "protein_names_refseq": "guanine nucleotide binding protein (G protein), gamma 5; guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2787); (R-HSA-1296041); (R-HSA-163359); (R-HSA-202040); (R-HSA-381676); (R-HSA-392170); (R-HSA-392451); (R-HSA-392851); (R-HSA-400042); (R-HSA-4086398); (R-HSA-416476); (R-HSA-416482); (R-HSA-418217); (R-HSA-418555); (R-HSA-418592); (R-HSA-418594); (R-HSA-418597); (R-HSA-420092); (R-HSA-428930); (R-HSA-432040); (R-HSA-456926); (R-HSA-500657); (R-HSA-6814122); (R-HSA-8964315); (R-HSA-8964616); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9856530); (R-HSA-997272)", "pathway_count": 30, "publication_count": 518, "publication_id_list": 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"class_list": "", "function": "Exosomes derived from M1 macrophages inhibit the proliferation of the A549 and H1299 lung cancer cell lines via the miRNA-let-7b-5p-GNG5 axis. Publication Status: Online-Only, [RefSeq, PubMed]; G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987 [PubMed 3113327]; summary by Ahmad et al., 1995) [PubMed 7606925].[supplied by OMIM, Nov 2010]., [RefSeq]; GNG5 is an unfavourable independent prognostic indicator of gliomas., [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction., [UniProtKB]; Transcription factor YY1-activated GNG5 facilitates glioblastoma cell growth, invasion, stemness and glycolysis through Wnt/beta-catenin pathway. 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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "B2R5A0;P30670;Q5VX54;Q61015", "ec_number_list": [], "go_molecular_function": "GO:0031681 G-protein beta-subunit binding;GO:0003924 GTPase activity;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005834 heterotrimeric G-protein complex", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 52.1, "record_id": "P63218-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VD86-1", "uniprot_id": [ { "id": "INCA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VD86", "type": "external" } ], "mass": 26817.0, "length": 236, "protein_name": "Protein INCA1", "gene_name": "INCA1", "organism": "Human", "refseq_name": "protein INCA1 isoform 2", "refseq_ac": [ { "id": "NP_001161457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161457", "type": "external" } ], "gene_names_uniprotkb": "INCA1; HSD45", "gene_names_refseq": "HSD45; INCA1", "protein_names_uniprotkb": "Protein INCA1; Inhibitor of CDK interacting with cyclin A1", "protein_names_refseq": "protein INCA1 isoform 2; protein INCA1", "tax_id": 9606, "disease": "", "pathway": " (hsa:388324)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "15159402;18756329;21540187;21750715;21874239;31844290;38665916;39894887", "class_list": "", "function": "Binds to CDK2-bound cyclins and inhibits the kinase activity of CDK2; binding to cyclins is critical for its function as CDK inhibitor (PubMed:21540187). Inhibits cell growth and cell proliferation and may play a role in cell cycle control (By similarity). Required for ING5-mediated regulation of S-phase progression, enhancement of Fas-induced apoptosis and inhibition of cell growth (By similarity)., [UniProtKB, UniProtKB, PubMed]; Inhibitor of cyclin-dependent kinase (CDK) interacting with cyclin A1 (INCA1) regulates proliferation and is repressed by oncogenic signaling, [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": 4, "reported_mutagensis": 4, "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": "Q6J273;Q6PKN9", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity;GO:0030332 cyclin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q0VD86-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07666-1", "uniprot_id": [ { "id": "KHDR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07666", "type": "external" } ], "mass": 48227.0, "length": 443, "protein_name": "KH domain-containing, RNA-binding, signal transduction-associated protein 1", "gene_name": "KHDRBS1", "organism": "Human", "refseq_name": "KH domain-containing, RNA-binding, signal transduction-associated protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001258807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258807", "type": "external" } ], "gene_names_uniprotkb": "KHDRBS1; SAM68", "gene_names_refseq": "KHDRBS1; Sam68; p62; p68", "protein_names_uniprotkb": "KH domain-containing, RNA-binding, signal transduction-associated protein 1; GAP-associated tyrosine phosphoprotein p62; Sam68; Src-associated in mitosis 68 kDa protein; p21 Ras GTPase-activating protein-associated p62; p68", "protein_names_refseq": "GAP-associated tyrosine phosphoprotein p62 (Sam68); KH domain containing, RNA binding, signal transduction associated 1; KH domain-containing, RNA-binding, signal transduction-associated protein 1 isoform 2; p21 Ras GTPase-activating protein-associated p62; src-associated in mitosis 68 kDa protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10657); (R-HSA-8849468)", "pathway_count": 2, "publication_count": 152, "publication_id_list": "10332027;10913193;11585385;12478298;12482964;12529443;1374686;15021911;15471878;15782174;16083285;16179349;16408927;17081983;17287340;17371836;17890166;17924679;18220336;18452278;18669648;18691976;18707149;19304789;19415658;19439179;19608861;19664995;20068230;20068231;20166139;20186123;20610388;21613532;21740066;22000517;22121020;22253824;22424782;22706990;22869377;23186163;23301498;23481700;24029068;24129315;24275569;24514149;24715725;25114211;25218447;25576301;25645385;25755297;25772364;25880248;25892735;26080397;26154972;26375851;26758068;26992070;27397612;27600516;27846572;27920218;28063628;28218747;28228285;28446606;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29496907;29508533;29557506;29632046;29632711;29786170;29789417;30192525;30315122;30379171;30397120;30429286;30524438;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34211107;34509645;34561969;34725712;34932366;35008409;35051231;35083852;35251023;35580925;36010968;36215666;36284347;36537190;36580660;37217939;37792222;37938771;38660302;38665916;39990658;40596516;40914422;9013542;9045636;9315091", "class_list": "", "function": "Cdk1-mediated threonine phosphorylation of Sam68 modulates its RNA binding, alternative splicing activity and cellular functions., [RefSeq, PubMed]; Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase., [UniProtKB, PubMed]; KHDRBS1 as a novel prognostic signaling biomarker influencing hepatocellular carcinoma cell proliferation, migration, immune microenvironment, and drug sensitivity. Publication Status: Online-Only, [RefSeq, PubMed]; Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain-containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediates mRNA nuclear export. Positively regulates the association of constitutive transport element (CTE)-containing mRNA with large polyribosomes and translation initiation. According to some authors, is not involved in the nucleocytoplasmic export of unspliced (CTE)-containing RNA species according to (PubMed:22253824). RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds to RNA containing 5'-[AU]UAA-3' as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). Can regulate CD44 alternative splicing in a Ras pathway-dependent manner (PubMed:26080397). In cooperation with HNRNPA1 modulates alternative splicing of BCL2L1 by promoting splicing toward isoform Bcl-X(S), and of SMN1 (PubMed:17371836, PubMed:20186123). Can regulate alternative splicing of NRXN1 and NRXN3 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. In a neuronal activity-dependent manner cooperates synergistically with KHDRBS2/SLIM-1 in regulation of NRXN1 exon skipping at AS4. The cooperation with KHDRBS2/SLIM-1 is antagonistic for regulation of NXRN3 alternative splicing at AS4 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Sam68 is a druggable vulnerability point in cancer stem cells. Review article, [RefSeq, PubMed]; This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]., [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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 32, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "D3DPP3;Q6PJX7;Q8NB97;Q99760", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0017124 SH3 domain binding;GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0070618 Grb2-Sos complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046833 positive regulation of RNA export from nucleus;GO:0046831 regulation of RNA export from nucleus;GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q07666-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BD6-1", "uniprot_id": [ { "id": "SPSB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BD6", "type": "external" } ], "mass": 30942.0, "length": 273, "protein_name": "SPRY domain-containing SOCS box protein 1", "gene_name": "SPSB1", "organism": "Human", "refseq_name": "SPRY domain-containing SOCS box protein 1", "refseq_ac": [ { "id": "NP_079382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079382", "type": "external" } ], "gene_names_uniprotkb": "SPSB1; SSB1", "gene_names_refseq": "SPSB1; SSB-1; SSB1", "protein_names_uniprotkb": "SPRY domain-containing SOCS box protein 1; SSB-1", "protein_names_refseq": "SPRY domain-containing SOCS box protein 1; SPRY domain-containing SOCS box protein SSB-1; novel SPRY domain containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:80176); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 149, "publication_id_list": "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;15537541;15571818;15572695;15574592;15601820;15601839;15652483;15688063;15694336;15713673;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17189197;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19683501;19748355;19851334;19874575;19940261;20561531;21199876;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25645385;26344709;26460955;26632597;26906416;27030794;27222660;27397612;27565346;27600516;28115426;28931592;29153394;30484775;30610225;31848261;32005965;32038638;32157095;32284348;32576812;32938616;33444648;33968037;35051231;35580925;36241641;37217939;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Cullin-5 Adaptor SPSB1 Controls NF-kappaB Activation Downstream of Multiple Signaling Pathways. Publication Status: Online-Only, [RefSeq, PubMed]; SSB1/2 is part of an ssDNA-binding heterotrimeric complex, SOSS which is involved in the maintenance of genome stability., [RefSeq, PubMed]; SUMOylation stabilizes hSSB1 and enhances the recruitment of NBS1 to DNA damage sites. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820, PubMed:21199876). Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2 (PubMed:21199876). Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5 (PubMed:21199876)., [UniProtKB, PubMed, 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": 1, "reported_mutagensis": 2, "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": "A2A275;Q59FA1;Q5TIH9;Q9BRY9;Q9H6C5", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q96BD6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15772-5", "uniprot_id": [ { "id": "SPEG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15772", "type": "external" } ], "mass": 354289.0, "length": 3267, "protein_name": "Striated muscle preferentially expressed protein kinase", "gene_name": "SPEG", "organism": "Human", "refseq_name": "striated muscle preferentially expressed protein kinase isoform 4", "refseq_ac": [ { "id": "NP_001166947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166947", "type": "external" } ], "gene_names_uniprotkb": "SPEG; APEG1; KIAA1297", "gene_names_refseq": "APEG-1; APEG1; BPEG; CNM5; MYLK6; SPEGalpha; SPEGbeta; SPEG", "protein_names_uniprotkb": "Striated muscle preferentially expressed protein kinase; 2.7.11.1; APEG-1; Aortic preferentially expressed protein 1", "protein_names_refseq": "SPEG complex locus; aortic preferentially expressed gene 1; aortic preferentially expressed protein 1; nuclear protein, marker for differentiated aortic smooth muscle and down-regulated with vascular injury; striated muscle preferentially expressed protein kinase isoform 4; striated muscle preferentially expressed protein kinase", "tax_id": 9606, "disease": "centronuclear myopathy 5 (Disease Ontology:DOID:0111222)", "pathway": " (hsa:10290)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "15185077;16354304;16545539;17344846;23186163;24714562;25087613;27846572;28904123;29242379;29351928;29393594;29557506;31217245;31844290;32161166;32387766;32488085;32683896;32925938;32938616;33141586;33592498;33794647;34185709;34357683;34561969;34742623;35051231;36010968;8663449", "class_list": "", "function": "A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation., [RefSeq, PubMed]; Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy., [RefSeq, PubMed]; Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells., [UniProtKB]; Loss of SPEG Inhibitory Phosphorylation of Ryanodine Receptor Type-2 Promotes Atrial Fibrillation., [RefSeq, PubMed]; SPEG is present in cardiac muscle, where it plays a critical role; therefore, individuals with SPEG mutations additionally present with dilated cardiomyopathy., [RefSeq, PubMed]; This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 7, "predicted_n_glycosites": 0, "predicted_o_glycosites": 7, "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": 36, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 66, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K0G6;A8MRU0;Q27J74;Q695L1;Q6FGA6;Q6ZQW1;Q6ZTL8;Q9P2P9", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "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_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0007517 muscle organ development;GO:0042692 muscle cell differentiation", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q15772-5", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N96-1", "uniprot_id": [ { "id": "SPT13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N96", "type": "external" } ], "mass": 74820.0, "length": 652, "protein_name": "Spermatogenesis-associated protein 13", "gene_name": "SPATA13", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 13 isoform 1", "refseq_ac": [ { "id": "NP_001159743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159743", "type": "external" } ], "gene_names_uniprotkb": "SPATA13", "gene_names_refseq": "ARHGEF29; ASEF2; SPATA13", "protein_names_uniprotkb": "Spermatogenesis-associated protein 13; APC-stimulated guanine nucleotide exchange factor 2; Asef2", "protein_names_refseq": "APC-stimulated guanine nucleotide exchange factor 2; adenomatous polyposis coli stimulated exchange factor 2; spermatogenesis-associated protein 13 isoform 1; spermatogenesis-associated protein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:221178); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 3, "publication_count": 301, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18786931;18835169;18838382;18929667;19151759;19269969;19494238;19605563;19673492;19713215;19893577;19934221;20400958;20460433;20679435;20810653;21148482;21454492;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22424782;22461490;22475431;22571869;22608513;22734669;22970203;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24584464;24859002;24874604;24933155;24960694;24996924;25024229;25211221;25428919;25505266;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26375851;26529257;26598554;26887924;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;27862975;27869121;27920218;28028151;28114311;28196833;28397838;28825699;28832583;28860633;29089502;29242379;29331515;29358323;29382922;29493099;29508533;29557506;29786170;29789417;30061681;30315122;30833945;30853411;31154438;31217245;31844290;31848261;31871319;31998317;32203420;32339198;32502341;32983136;33298915;33912179;34171305;34185709;34932366;35051231;35580925;36215666;36284347;39894887;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9829970;9843499;9846874;9988689", "class_list": "", "function": "Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Regulates cell migration and adhesion assembly and disassembly through a RAC1, PI3K, RHOA and AKT1-dependent mechanism. Increases both RAC1 and CDC42 activity, but decreases the amount of active RHOA. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Asef2 activates Rac1 to modulate adhesion and actin dynamics and thereby regulate cell migration., [RefSeq, PubMed]; Asef2, Neurabin2 and APC cooperatively regulate actin cytoskeletal organization and are required for HGF-induced cell migration., [RefSeq, PubMed]; Mutations in SPATA13 cause primary angle closure glaucoma. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylation of S106 modulates Asef2 guanine nucleotide exchange factor activity and Asef2-mediated cell migration and adhesion turnover., [RefSeq, PubMed]; These results suggest that similar to Asef, Asef2 plays an important role in cell migration, and that Asef2 activated by truncated mutant APC is required for aberrant migration of colorectal tumor cells., [RefSeq, 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, "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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "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": "A2VEA9;A6NF85;B4DQB1;B4DSZ0;B4DVM8;J3KPJ7;J3KQH2;Q5VX68;Q6ZML1;Q8N873;Q8TEK6", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030027 lamellipodium;GO:0002102 podosome", "go_biological_process": "GO:0016477 cell migration;GO:0046847 filopodium assembly;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030032 lamellipodium assembly;GO:0030334 regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 30.4, "record_id": "Q96N96-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75340-1", "uniprot_id": [ { "id": "PDCD6_HUMAN", "url": "https://www.uniprot.org/uniprot/O75340", "type": "external" } ], "mass": 21868.0, "length": 191, "protein_name": "Programmed cell death protein 6", "gene_name": "PDCD6", "organism": "Human", "refseq_name": "programmed cell death protein 6 isoform 2", "refseq_ac": [ { "id": "NP_001254485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485", "type": "external" } ], "gene_names_uniprotkb": "PDCD6; ALG2", "gene_names_refseq": "ALG-2; ALG2; PDCD6; PEF1B", "protein_names_uniprotkb": "Programmed cell death protein 6; ALG-2; Apoptosis-linked gene 2 protein homolog", "protein_names_refseq": "apoptosis-linked gene 2 protein homolog; probable calcium-binding protein ALG-2; programmed cell death protein 6 isoform 2; programmed cell death protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:10016)", "pathway_count": 1, "publication_count": 104, "publication_id_list": "11237011;11278427;11883899;11883939;16132846;16957052;16959974;17045351;17889823;18256029;18940611;18991276;18997320;19520058;19864416;20068231;20691033;21122810;21893193;22223895;24714562;24715725;25502872;25576301;25645385;25667979;25880248;26768311;26992070;27600516;27716508;27784779;27813252;27846572;27920218;28063628;28218747;28228285;28467828;28832583;28834231;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30484775;30626607;30779550;30833945;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32901835;32938616;32983136;33214551;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34433824;34787301;34932366;35051231;35154160;35251023;35318648;35580925;35732318;36010968;36215666;36241641;36284347;37938771", "class_list": "", "function": "ALG2 regulates type I interferon responses by inhibiting STING trafficking., [RefSeq, PubMed]; Calcium sensor that plays a key role in processes such as endoplasmic reticulum (ER)-Golgi vesicular transport, endosomal biogenesis or membrane repair. Acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium: calcium-binding triggers exposure of apolar surface, promoting interaction with different sets of proteins thanks to 3 different hydrophobic pockets, leading to translocation to membranes (PubMed:20691033, PubMed:25667979). Involved in ER-Golgi transport by promoting the association between PDCD6IP and TSG101, thereby bridging together the ESCRT-III and ESCRT-I complexes (PubMed:19520058). Together with PEF1, acts as a calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in ER-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PEF1 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Involved in the regulation of the distribution and function of MCOLN1 in the endosomal pathway (PubMed:19864416). Promotes localization and polymerization of TFG at endoplasmic reticulum exit site (PubMed:27813252). Required for T-cell receptor-, Fas-, and glucocorticoid-induced apoptosis (By similarity). May mediate Ca(2+)-regulated signals along the death pathway: interaction with DAPK1 can accelerate apoptotic cell death by increasing caspase-3 activity (PubMed:16132846). Its role in apoptosis may however be indirect, as suggested by knockout experiments (By similarity). May inhibit KDR/VEGFR2-dependent angiogenesis; the function involves inhibition of VEGF-induced phosphorylation of the Akt signaling pathway (PubMed:21893193). In case of infection by HIV-1 virus, indirectly inhibits HIV-1 production by affecting viral Gag expression and distribution (PubMed:27784779)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Expression level of NEAT1 differentiates benign and malignant thyroid nodules by regulating NEAT1/miR9/PTEN and NEAT1/miR124/PDCD6 signalling., [RefSeq, PubMed]; Has a lower Ca(2+) affinity than isoform 1 (By similarity)., [UniProtKB, UniProtKB]; The Contribution of PDCD6 Polymorphisms to Oral Cancer Risk., [RefSeq, PubMed]; This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 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, "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": 1, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 3, "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": "B2RD16;E7ESR3;Q2YDC2;Q5TZS0", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0014029 neural crest formation;GO:0001525 angiogenesis;GO:0006886 intracellular protein transport;GO:0043065 positive regulation of apoptotic process;GO:0051592 response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "O75340-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75581-1", "uniprot_id": [ { "id": "LRP6_HUMAN", "url": "https://www.uniprot.org/uniprot/O75581", "type": "external" } ], "mass": 180429.0, "length": 1613, "protein_name": "Low-density lipoprotein receptor-related protein 6", "gene_name": "LRP6", "organism": "Human", "refseq_name": "low-density lipoprotein receptor-related protein 6 isoform b precursor", "refseq_ac": [ { "id": "NP_002327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002327", "type": "external" } ], "gene_names_uniprotkb": "LRP6", "gene_names_refseq": "ADCAD2; EVR8; LRP6; OPTA4; STHAG7", "protein_names_uniprotkb": "Low-density lipoprotein receptor-related protein 6; LRP-6", "protein_names_refseq": "LRP-6; low-density lipoprotein receptor-related protein 6 isoform b precursor; low-density lipoprotein receptor-related protein 6", "tax_id": 9606, "disease": "tooth agenesis (Disease Ontology:DOID:0050591); neural tube defect (Disease Ontology:DOID:0080074); coronary artery disease (Disease Ontology:DOID:3393); steatotic liver disease (Disease Ontology:DOID:9452); tooth agenesis, selective, 7 (MONDO:MONDO:0014749); exudative vitreoretinopathy 8 (MONDO:MONDO:0979571); osteopetrosis, autosomal dominant 4 (MONDO:MONDO:0980938)", "pathway": " (hsa:4040); (R-HSA-201681); (R-HSA-3772470); (R-HSA-4641262); (R-HSA-4641263); (R-HSA-5340588)", "pathway_count": 6, "publication_count": 203, "publication_id_list": "10.1101/2023.09.13.557529;10198061;10201374;10347172;10421629;10428961;10481074;10581160;10684251;10698523;11029007;11137016;11237011;11336703;11357136;11433302;11448771;11493532;11707456;11738041;11742004;11861647;12050670;12167704;12205098;12223464;12527209;12554650;12775774;12857724;12897152;14636582;14731402;14981260;15073180;15084453;15208637;15256437;15454084;15459103;15492824;15681612;15778503;15908424;16082208;16109882;16116452;16172602;16280981;16341016;16341017;16357527;16365045;16427602;16513652;16554443;16723543;16815997;16890161;16971168;17086209;17143291;17143292;17234765;17318175;17320548;17326769;17332414;17400545;17462603;17529994;17569865;17698587;17804805;18077588;18322270;18339531;18362152;18378904;18423204;18502762;18606139;18762581;18772438;19000841;19061640;19107203;19174556;19208630;19293931;19307728;19619488;19755491;19801552;19802005;20004982;20053636;20059949;20093360;20230923;20495530;21183070;21183076;21252990;21375506;21383061;21406690;21536646;21693646;21727895;21743455;21875946;21909076;21944579;21984209;22000855;22000856;22014570;22246988;22357953;22411803;22491013;22558232;22575959;22653731;22773843;22895187;22951645;22986341;23074275;23186163;23256519;23400998;23572575;23638027;23703864;23791946;23847203;23987510;24265322;25331957;25500543;25502872;26387593;27203244;27524201;27530555;27821587;28341812;28674183;28904123;29444668;29557506;29983323;30069874;30109182;30484775;30664649;31020640;31085352;31217245;31844290;32157095;32350084;32387766;32488085;32527265;32730923;32897882;32973331;33141586;33164649;33200460;33287247;33592498;33717175;33912179;33936100;33968037;34171305;34357683;34896607;35051231;35154160;35251023;35483665;35637196;36215666;36228153;36241641;36694134;36925229;37065631;37202775;38250152;38385987;9034327;9135132;9391096;9482734;9501980;9635432;9704021", "class_list": "", "function": "Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; LRP5-/6 gene polymorphisms and its association with risk of abnormal bone mass in postmenopausal women. Publication Status: Online-Only, [RefSeq, PubMed]; LRP6/filamentous-actin signaling facilitates osteogenic commitment in mechanically induced periodontal ligament stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of circRNAs LRP6 in gestational diabetes mellitus predicts foetal malformation and intrauterine death., [RefSeq, PubMed]; The inhibition of YTHDF3/m[6]A/LRP6 reprograms fatty acid metabolism and suppresses lymph node metastasis in cervical cancer. Erratum:[Int J Biol Sci. 2025 Jun 5;21(8):3825-3826. doi: 10.7150/ijbs.115928. PMID: 40520018] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 30, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 57, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 7, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q17RZ2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005109 frizzled binding;GO:0015026 coreceptor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043025 neuronal cell body", "go_biological_process": "GO:0014029 neural crest formation;GO:0006897 endocytosis;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007399 nervous system development;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "O75581-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95273-1", "uniprot_id": [ { "id": "CCDB1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95273", "type": "external" } ], "mass": 40262.0, "length": 360, "protein_name": "Cyclin-D1-binding protein 1", "gene_name": "CCNDBP1", "organism": "Human", "refseq_name": "cyclin-D1-binding protein 1", "refseq_ac": [ { "id": "NP_036274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036274", "type": "external" } ], "gene_names_uniprotkb": "CCNDBP1; DIP1; GCIP; HHM", "gene_names_refseq": "CCNDBP1; DIP1; GCIP; HHM", "protein_names_uniprotkb": "Cyclin-D1-binding protein 1; Grap2 and cyclin-D-interacting protein; Human homolog of Maid", "protein_names_refseq": "D-type cyclin-interacting protein 1; cyclin D-type binding-protein 1; cyclin-D1-binding protein 1; grap2 and cyclin-D-interacting protein; human homolog of Maid", "tax_id": 9606, "disease": "", "pathway": " (hsa:23582)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "10801854;10854051;10915743;10931946;11118353;11237011;15887118;16303743;17131381;17621266;21993680;22424782;22544926;23481700;24366607;24715725;25418920;25576301;25645385;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28514659;28832583;28834231;28860189;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;31217245;31844290;31848261;31937595;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34509645;34561969;35051231;35561310;35580925;36010968;36284347;37058478;37938771", "class_list": "", "function": "May negatively regulate cell cycle progression. May act at least in part via inhibition of the cyclin-D1/CDK4 complex, thereby preventing phosphorylation of RB1 and blocking E2F-dependent transcription., [UniProtKB, PubMed]; Rs66651343 and rs12909095 confer lung cancer risk by regulating CCNDBP1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009]., [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": 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": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K3Q0;A8K3U2;Q6ZQN9;Q7Z519;Q8NBS7;Q8NBY2;Q9NS19;Q9NYH3;Q9UHX9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "O95273-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75771-1", "uniprot_id": [ { "id": "RA51D_HUMAN", "url": "https://www.uniprot.org/uniprot/O75771", "type": "external" } ], "mass": 35049.0, "length": 328, "protein_name": "DNA repair protein RAD51 homolog 4", "gene_name": "RAD51D", "organism": "Human", "refseq_name": "DNA repair protein RAD51 homolog 4 isoform 6", "refseq_ac": [ { "id": "NP_001136043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136043", "type": "external" } ], "gene_names_uniprotkb": "RAD51D; RAD51L3", "gene_names_refseq": "BROVCA4; R51H3; RAD51D; RAD51L3; TRAD", "protein_names_uniprotkb": "DNA repair protein RAD51 homolog 4; R51H3; RAD51 homolog D; RAD51-like protein 3; TRAD", "protein_names_refseq": "DNA repair protein RAD51 homolog 4 isoform 6; DNA repair protein RAD51 homolog 4; RAD51 homolog D; RAD51-like protein 3; recombination repair protein", "tax_id": 9606, "disease": "hereditary breast ovarian cancer syndrome (Disease Ontology:DOID:5683); breast-ovarian cancer, familial, susceptibility to, 4 (MONDO:MONDO:0013669)", "pathway": " (hsa:5892); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579); (R-HSA-5693616); (R-HSA-6796648); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709603)", "pathway_count": 12, "publication_count": 145, "publication_id_list": "10092526;10373512;10570174;10733923;10801132;10856253;10871607;10984493;11006276;11237011;11350971;11459987;11744692;11751635;11832208;11834724;11842112;11842113;11971958;11988847;12228710;12686547;12721304;12912992;12975363;14527420;14716019;14759258;15109494;15170666;15359272;15665856;15703751;15781865;15916957;16337601;16710300;16793542;17114795;17200668;17200671;17200672;17289582;17420451;17996710;17996711;18058226;18317453;18957201;19074197;19268590;19347880;19369211;19584259;19596236;19609323;19941829;20054644;20207730;20729832;20729858;20729859;20871615;20871616;20965415;21111057;21276791;21520333;21822267;21965664;22012619;22194698;22593209;22645308;22988298;23149936;23509288;23686288;23731732;23754376;23810717;24013206;24076221;24141787;24371268;24485656;24509834;24554720;24662513;24715725;24831703;25418920;25429106;25561469;25576301;25712099;25880248;26145171;27846572;27899578;27920218;27932480;28063628;28089683;28158555;28228285;28240985;28319063;28646019;29165669;29242379;29393594;29608566;29786170;30289697;30311374;30315122;30524438;31154438;31586400;31636395;31757951;31844290;31848261;32157095;32387766;32732220;33141586;33195396;33592498;33936100;33978741;33981976;34171305;34440403;34561969;35051231;36010968;36215666;38661557;39117461;39445568;9063748;9512535;9570954", "class_list": "", "function": "Endometrial Cancer in a Family With RAD51D Gene Mutation., [RefSeq, PubMed]; Four cancer cases with pathological germline variant RAD51D c.270_271dup., [RefSeq, PubMed]; Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants., [RefSeq, PubMed]; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Bind to single-stranded DNA (ssDNA) and has DNA-dependent ATPase activity. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. Involved in telomere maintenance. The BCDX2 subcomplex XRCC2:RAD51D can stimulate Holliday junction resolution by BLM., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011]., [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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DJU7;E1P637;O43537;O60355;O75196;O75847;O75848;O76073;O76085;O94908;Q9UFU5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0003697 single-stranded DNA binding;GO:0008094 ATP-dependent activity, acting on DNA;GO:0043015 gamma-tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005815 microtubule organizing center;GO:0005657 replication fork", "go_biological_process": "GO:0006281 DNA repair;GO:0000723 telomere maintenance;GO:0000724 double-strand break repair via homologous recombination;GO:0007131 reciprocal meiotic recombination;GO:0042148 DNA strand invasion", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "O75771-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N720-1", "uniprot_id": [ { "id": "ZN655_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N720", "type": "external" } ], "mass": 57407.0, "length": 491, "protein_name": "Zinc finger protein 655", "gene_name": "ZNF655", "organism": "Human", "refseq_name": "zinc finger protein 655 isoform c", "refseq_ac": [ { "id": "NP_001009958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009958", "type": "external" } ], "gene_names_uniprotkb": "ZNF655; VIK", "gene_names_refseq": "VIK-1; VIK; ZNF655", "protein_names_uniprotkb": "Zinc finger protein 655; Vav-interacting Krueppel-like protein", "protein_names_refseq": "Vav-interacting Kruppel-like protein 1; vav-1 interacting Kruppel-like protein; zinc finger protein 655 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:79027); (R-HSA-212436)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15558030;15896744;16606702;16719718;18691976;19413330;19651622;20068231;2163759;23481700;24715725;25576301;25645385;26154972;26375851;27600516;27846572;27862975;27920218;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;30315122;30429286;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32502341;32897882;32938616;33141586;33298915;33912179;33936100;33968037;33981976;34144060;34171305;34211107;34561969;34932366;35051231;35561310;35580925;36010968;37272200;38823386;38906142;8183939;8769649;9637681;9653119", "class_list": "", "function": "Probable transcription factor., [UniProtKB]; This gene encodes a zinc finger protein. The zinc finger proteins are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; ZNF655 is involved in development and progression of non-small-cell lung cancer., [RefSeq, PubMed]; ZNF655 promotes the progression of hepatocellular carcinoma through PSMB8., [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": 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": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 2, "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": "A4D291;A6NGD3;B4E3M4;B7Z9Q9;D6W5T4;Q8IV00;Q8TA89;Q96EZ3;Q9BQ85", "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:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:2000134 negative regulation of G1/S transition of mitotic cell cycle;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q8N720-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13432-1", "uniprot_id": [ { "id": "U119A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13432", "type": "external" } ], "mass": 26962.0, "length": 240, "protein_name": "Protein unc-119 homolog A", "gene_name": "UNC119", "organism": "Human", "refseq_name": "protein unc-119 homolog A isoform c", "refseq_ac": [ { "id": "NP_001317095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317095", "type": "external" } ], "gene_names_uniprotkb": "UNC119; RG4", "gene_names_refseq": "CORD24; HRG4; IMD13; POC7A; POC7; UNC119", "protein_names_uniprotkb": "Protein unc-119 homolog A; Retinal protein 4; hRG4", "protein_names_refseq": "POC7 centriolar protein homolog A; protein unc-119 homolog A isoform c; protein unc-119 homolog A; retinal protein 4; unc-119 homolog", "tax_id": 9606, "disease": "cone-rod dystrophy 24 (Disease Ontology:DOID:0081449); immunodeficiency 13 (Disease Ontology:DOID:0111987)", "pathway": " (hsa:9094)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "10329014;11006213;11237011;11303027;12496276;14757743;18588884;19381274;20068231;21642972;21697133;22085962;22184408;22645359;22960633;23481700;23535298;24715725;25418920;25576301;25645385;26154972;26375851;26992070;27862975;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29786170;30315122;30410026;30429286;30484775;30945270;31154438;31530632;31696965;31844290;31848261;32157095;32357974;32488085;32502341;32554467;32897882;32938616;32983136;33091337;33123756;33717175;33936100;34171305;34185709;34357683;34561969;35051231;35318648;35561310;35580925;35947183;36010968;36215666;36284347;8576185;9761287", "class_list": "", "function": "Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid-binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Probably plays a role in trafficking proteins in photoreceptor cells. Plays important roles in mediating Src family kinase signals for the completion of cytokinesis via RAB11A., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The RAS-interacting chaperone UNC119 drives the RASSF6-MDM2-p53 axis and antagonizes RAS-mediated malignant transformation., [RefSeq, PubMed]; This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [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, "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": 6, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8G4;F1T095;O95126", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005829 cytosol;GO:0045202 synapse;GO:0051233 spindle midzone", "go_biological_process": "GO:0006897 endocytosis;GO:0007399 nervous system development;GO:0042953 lipoprotein transport;GO:0061098 positive regulation of protein tyrosine kinase activity;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q13432-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NE71-1", "uniprot_id": [ { "id": "ABCF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NE71", "type": "external" } ], "mass": 95926.0, "length": 845, "protein_name": "ATP-binding cassette sub-family F member 1", "gene_name": "ABCF1", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family F member 1 isoform a", "refseq_ac": [ { "id": "NP_001020262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020262", "type": "external" } ], "gene_names_uniprotkb": "ABCF1; ABC50", "gene_names_refseq": "ABC27; ABC50; ABCF1", "protein_names_uniprotkb": "ATP-binding cassette sub-family F member 1; ATP-binding cassette 50; TNF-alpha-stimulated ABC protein", "protein_names_refseq": "ATP-binding cassette 50 (TNF-alpha stimulated); ATP-binding cassette sub-family F member 1 isoform a; ATP-binding cassette, sub-family F (GCN20), member 1; TNF-alpha-stimulated ABC protein; TNFalpha-inducible ATP-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23); (R-HSA-382556)", "pathway_count": 2, "publication_count": 165, "publication_id_list": "10484077;10665657;10748049;11237011;11504826;11562789;11812794;12379217;12379510;12403779;12604685;1352877;1356264;1359686;1377674;14661924;15175422;15302935;15345747;15472518;15863492;15899824;16816140;16901789;16964243;17081983;17287340;17523162;17525332;17855752;17894550;17977821;18088087;18282684;18318008;18434309;18452278;18578522;18669648;18707149;18767875;19002207;19413330;19415658;19447222;19562805;19570978;19651622;19664994;19664995;1968359;19690332;19862647;1998343;20058876;20068231;20166139;20230923;20583968;20621639;21406692;22178883;22544926;23063411;23186163;23301498;23481700;24019521;24275569;24685677;24714562;24715725;2475911;25133187;25576301;25645385;2570070;25802875;25892735;26154972;26208431;26728094;26992070;27397612;27846572;28132103;28228285;28649982;28832583;28834231;28904123;2898143;29242379;29393594;29493099;29508533;29557506;29632711;29703820;29769354;29786170;30017566;30315122;30410026;30484775;30524438;30779550;31100412;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32981041;32983136;33042865;33141586;33214551;33298915;33537174;33592498;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34561969;3457471;34714667;3472246;34725712;35008409;35051231;35138101;35561310;35580925;36010968;36241641;36284347;36581221;37217939;37757768;38665916;40914422;7523390;7529176;7553863;7553864;7865904;9652413;9790762;9816258;9831708", "class_list": "", "function": "ABCF1 Regulates dsDNA-induced Immune Responses in Human Airway Epithelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; ABCF1 functions as a transcriptional coactivator for OCT4 and SOX2 to stimulate transciption of pluripotency-associated genes in embryonic stem cells., [RefSeq, PubMed]; ABCF1/CXCL12/CXCR4 Enhances Glioblastoma Cell Proliferation, Migration, and Invasion by Activating the PI3K/AKT Signal Pathway., [RefSeq, PubMed]; Isoform 2 is required for efficient Cap- and IRES-mediated mRNA translation initiation. Isoform 2 is not involved in the ribosome biogenesis., [UniProtKB, PubMed]; Study solves the crystal structure of an ATP-bound wild-type human ABCF1 at 2.3-A resolution. The comparative studies indicate that the structure is in a pre-activation intermediate conformation. This conformation is stabilized by the interaction between ATP and protein suggesting that this conformation is an important step in the activation of ABCF1., [RefSeq, PubMed]; The ATP-binding cassette transporter ABCF1 is a hepatic oncofetal protein that promotes chemoresistance, epithelial mesenchymal transformation and cancer stemness in hepatocellular carcinoma cells., [RefSeq, PubMed]; The combined assessment of IGF2BP3 and ABCF1 predicts recurrence in Ewing sarcoma patients., [RefSeq, PubMed]; The 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 GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [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, "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": 17, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 11, "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": "A2BF75;O14897;Q69YP6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0008135 translation factor activity, RNA binding;GO:0008494 translation activator activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0006413 translational initiation;GO:0006412 translation;GO:0045727 positive regulation of translation", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q8NE71-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6K7-1", "uniprot_id": [ { "id": "SAMD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6K7", "type": "external" } ], "mass": 61237.0, "length": 520, "protein_name": "Sterile alpha motif domain-containing protein 3", "gene_name": "SAMD3", "organism": "Human", "refseq_name": "sterile alpha motif domain-containing protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001017373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017373", "type": "external" } ], "gene_names_uniprotkb": "SAMD3", "gene_names_refseq": "SAMD3", "protein_names_uniprotkb": "Sterile alpha motif domain-containing protein 3; SAM domain-containing protein 3", "protein_names_refseq": "SAM domain-containing protein 3; sterile alpha motif domain-containing protein 3 isoform 1; sterile alpha motif domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:154075)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;19664994;20602751;20978832;23033978;25880248;26154972;27862975;28832583;28904123;29242379;29493099;29557506;29632711;30315122;31844290;32157095;32357974;32983136;33912179;33981976;34087483;35051231;35580925;36284347", "class_list": "", "function": "Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) 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, "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": 8, "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": "B4DY20;E1P576;J3KQK4;Q4VXD8;Q8NAY1;Q8NB96", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8N6K7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCP5-1", "uniprot_id": [ { "id": "ZBT44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCP5", "type": "external" } ], "mass": 63882.0, "length": 570, "protein_name": "Zinc finger and BTB domain-containing protein 44", "gene_name": "ZBTB44", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 44 isoform 1", "refseq_ac": [ { "id": "NP_001288027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288027", "type": "external" } ], "gene_names_uniprotkb": "ZBTB44; BTBD15; ZNF851", "gene_names_refseq": "BTBD15; HSPC063; ZBTB44; ZNF851", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 44; BTB/POZ domain-containing protein 15; Zinc finger protein 851", "protein_names_refseq": "BTB (POZ) domain containing 15; BTB/POZ domain-containing protein 15; zinc finger and BTB domain-containing protein 44 isoform 1; zinc finger and BTB domain-containing protein 44; zinc finger protein 851", "tax_id": 9606, "disease": "", "pathway": " (hsa:29068)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;17525332;18669648;19690332;20068231;23186163;23481700;25576301;25772364;26154972;26992070;27920218;28218747;28228285;28514659;28832583;29242379;29393594;29557506;29632046;30315122;30429286;31844290;32983136;33717175;33912179;33968037;34171305;34932366", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "H7BY22;Q6IPT8;Q86VJ7;Q86XX5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8NCP5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54725-1", "uniprot_id": [ { "id": "RD23A_HUMAN", "url": "https://www.uniprot.org/uniprot/P54725", "type": "external" } ], "mass": 39609.0, "length": 363, "protein_name": "Lysine-specific demethylase RAD23A", "gene_name": "RAD23A", "organism": "Human", "refseq_name": "lysine-specific demethylase RAD23A isoform 2", "refseq_ac": [ { "id": "NP_001257291", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257291", "type": "external" } ], "gene_names_uniprotkb": "RAD23A", "gene_names_refseq": "HHR23A; HR23A; RAD23A", "protein_names_uniprotkb": "Lysine-specific demethylase RAD23A; 1.14.11.-; HR23A; UV excision repair protein RAD23 homolog A; hHR23A", "protein_names_refseq": "RAD23 homolog A, nucleotide excision repair protein; RAD23, yeast homolog, A; UV excision repair protein RAD23 homolog A; lysine-specific demethylase RAD23A isoform 2; lysine-specific demethylase RAD23A", "tax_id": 9606, "disease": "", "pathway": " (hsa:5886); (R-HSA-5689877); (R-HSA-5696394); (R-HSA-5696395)", "pathway_count": 4, "publication_count": 168, "publication_id_list": "10391953;10488153;10526214;10734143;10915768;11007478;11087358;11141066;11237011;11278856;11279143;11511374;12079361;12080057;12643283;12732143;12815074;12944386;12970176;14517266;14557549;14621999;14742321;15220921;15321727;15322280;15590680;15811629;15882621;15949443;15964821;16030353;16223728;16473935;16491090;16678110;16712842;17000769;17098253;17287340;17466625;17466626;17525332;17693683;17696782;17882165;17948053;18077418;18234089;18452278;18599482;18614043;18669648;19056823;19109893;19609301;19661379;19690332;19713942;19940136;19941824;20058876;20068231;20368362;20614012;20855601;20876134;20940148;21135142;21388382;22081108;22118460;23038248;23045548;23186163;23319653;23352696;23481700;23751493;24275569;25154395;25502872;25538220;25576301;25880248;25892735;26042670;26151477;26154972;26992070;27452731;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28904123;29242379;29314611;29331515;29393594;29557506;29769354;29774024;29786170;29789417;30192525;30315122;30429286;30455355;30779550;31020640;31154438;31222486;31373491;31530632;31844290;32157095;32209475;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34356632;34357683;34824204;34932366;35008409;35051231;35154160;35580925;36010968;36215666;36241641;36284347;37938771;38253038;38665916;40307207;40596516;40914422;7559382;7700386;8168482;8692841;9130708;9371639;9372924;9699634;9716411;9771713;9846873", "class_list": "", "function": "(Microbial infection) Involved in -dependent replication of HIV-1 in non-proliferating cells and primary macrophages. Required for the association of HIV-1 Vpr with the host proteasome., [UniProtKB, PubMed]; Kinetic Constraints in the Specific Interaction between Phosphorylated Ubiquitin and Proteasomal Shuttle Factors. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional protein that participates in histone H4K20 demethylation, DNA repair, ubiquitin-dependent protein degradation, transcriptional regulation, and viral replication (PubMed:12643283, PubMed:14621999, PubMed:15321727, PubMed:20614012, PubMed:32209475, PubMed:9372924). Specifically demethylates mono-, di- and trimethylated 'Lys-20' of histone H4 (H4K20me1, H4K20me2, H4K20me3, respectively) into unmethylated forms. Activates the transcription of coding genes by demethylating H4K20me1 and the transcription of repetitive elements by demethylating H4K20me3 (PubMed:32209475). Involved in modulation of proteasomal degradation. Binds to 'Lys-48'-linked polyubiquitin chains in a length-dependent manner and with a lower affinity to 'Lys-63'-linked polyubiquitin chains. Proposed to be capable to bind simultaneously to the 26S proteasome and to polyubiquitinated substrates and to deliver ubiquitinated proteins to the proteasome (PubMed:12643283, PubMed:14621999, PubMed:15321727). Involved in nucleotide excision repair, is considered functionally equivalent to RAD23B in global genome nucleotide excision repair (GG-NER) through its association with XPC. In vitro, the XPC-RAD23A complex demonstrates NER activity (PubMed:9372924). Can stabilize XPC (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Involved in nucleotide excision repair., [UniProtKB, UniProtKB]; Structure of HIV-1 Vpr in complex with the human nucleotide excision repair protein hHR23A. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 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, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "K7ESE3;Q59EU8;Q5M7Z1", "ec_number_list": [ { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "1.14.99.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.66", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" } ], "go_molecular_function": "GO:0035575 histone H4K20 demethylase activity;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0003684 damaged DNA binding;GO:0019900 kinase binding;GO:1990381 ubiquitin-specific protease binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000502 proteasome complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045787 positive regulation of cell cycle;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0031648 protein destabilization;GO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 17.5, "record_id": "P54725-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00013-1", "uniprot_id": [ { "id": "EM55_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00013", "type": "external" } ], "mass": 52296.0, "length": 466, "protein_name": "55 kDa erythrocyte membrane protein", "gene_name": "MPP1", "organism": "Human", "refseq_name": "55 kDa erythrocyte membrane protein isoform 2", "refseq_ac": [ { "id": "NP_001159932", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159932", "type": "external" } ], "gene_names_uniprotkb": "MPP1; DXS552E; EMP55", "gene_names_refseq": "AAG12; DXS552E; EMP55; MPP1; MRG1; PEMP", "protein_names_uniprotkb": "55 kDa erythrocyte membrane protein; Membrane protein, palmitoylated 1; p55", "protein_names_refseq": "55 kDa erythrocyte membrane protein isoform 2; 55 kDa erythrocyte membrane protein; aging-associated gene 12; erythrocyte membrane protein p55; membrane palmitoylated protein 1; membrane protein, palmitoylated 1, 55kDa; migration-related gene 1; palmitoylated erythrocyte membrane protein", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); syndromic X-linked intellectual disability (Disease Ontology:DOID:0060309)", "pathway": " (hsa:4354); (R-HSA-9662361)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10821263;11237011;1301163;16741958;1713685;17584769;18669648;19144871;20068231;22496366;22898188;23186163;23481700;24715725;25502872;25576301;25645385;26154972;26811146;26992070;27600516;28832583;28834231;28904123;29146910;29242379;29393594;29475958;29493099;29557506;29632046;29786170;30429286;30524438;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33968037;33981976;34171305;34185709;34357683;34405274;34509645;35051231;35132862;35251023;35580925;36010968;36215666;36241641;36284347;37938771;38253038;40596516", "class_list": "", "function": "Data suggest that targeting the ATP binding cassette subfamily C member 4 (ABCC4)-membrane palmitoylated protein 1 (MPP1) protein complex can lead to new therapies to improve treatment outcome of acute myeloid leukemia (AML). Publication Status: Online-Only, [RefSeq, PubMed]; Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. The encoded protein is an extensively palmitoylated membrane phosphoprotein containing a PDZ domain, a Src homology 3 (SH3) motif, and a guanylate kinase domain. This gene product interacts with various cytoskeletal proteins and cell junctional proteins in different tissue and cell types, and may be involved in the regulation of cell shape, hair cell development, neural patterning of the retina, and apico-basal polarity and tumor suppression pathways in non-erythroid cells. Multiple transcript variants encoding different isoforms have been found for this gene. [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, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DZV5;G3XAI1;Q2TSB6;Q5J7V5", "ec_number_list": [], "go_molecular_function": "GO:0004385 GMP kinase activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0016020 membrane;GO:0030863 cortical cytoskeleton;GO:0032420 stereocilium", "go_biological_process": "GO:0007165 signal transduction;GO:0034405 response to fluid shear stress;GO:0090022 regulation of neutrophil chemotaxis", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q00013-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18887-1", "uniprot_id": [ { "id": "XRCC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P18887", "type": "external" } ], "mass": 69498.0, "length": 633, "protein_name": "DNA repair protein XRCC1", "gene_name": "XRCC1", "organism": "Human", "refseq_name": "DNA repair protein XRCC1", "refseq_ac": [ { "id": "NP_006288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006288", "type": "external" } ], "gene_names_uniprotkb": "XRCC1", "gene_names_refseq": "RCC; SCAR26; XRCC1", "protein_names_uniprotkb": "DNA repair protein XRCC1; X-ray repair cross-complementing protein 1", "protein_names_refseq": "DNA repair protein XRCC1; X-ray repair complementing defective repair in Chinese hamster cells 1; X-ray repair cross-complementing protein 1", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); myelodysplastic syndrome (Disease Ontology:DOID:0050908); brain glioma (Disease Ontology:DOID:0060108); colorectal carcinoma (Disease Ontology:DOID:0080199); autosomal recessive spinocerebellar ataxia 26 (Disease Ontology:DOID:0080260); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); asphyxia neonatorum (Disease Ontology:DOID:11088); hepatitis A (Disease Ontology:DOID:12549); leiomyoma (Disease Ontology:DOID:127); lung cancer (Disease Ontology:DOID:1324); malignant mesothelioma (Disease Ontology:DOID:1790); pancreatic cancer (Disease Ontology:DOID:1793); impotence (Disease Ontology:DOID:1875); hepatitis B (Disease Ontology:DOID:2043); transient cerebral ischemia (Disease Ontology:DOID:224); laryngeal carcinoma (Disease Ontology:DOID:2600); transitional cell carcinoma (Disease Ontology:DOID:2671); contact dermatitis (Disease Ontology:DOID:2773); invasive ductal carcinoma (Disease Ontology:DOID:3008); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); gallbladder cancer (Disease Ontology:DOID:3121); coronary artery disease (Disease Ontology:DOID:3393); middle cerebral artery infarction (Disease Ontology:DOID:3525); meningioma (Disease Ontology:DOID:3565); liver cancer (Disease Ontology:DOID:3571); central nervous system cancer (Disease Ontology:DOID:3620); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); papillary thyroid carcinoma (Disease Ontology:DOID:3969); cervical cancer (Disease Ontology:DOID:4362); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); esophageal cancer (Disease Ontology:DOID:5041); liver cirrhosis (Disease Ontology:DOID:5082); stomach carcinoma (Disease Ontology:DOID:5517); gastric cardia carcinoma (Disease Ontology:DOID:6270); gastric cardia adenocarcinoma (Disease Ontology:DOID:6271); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic myeloid leukemia (Disease Ontology:DOID:8552); in situ carcinoma (Disease Ontology:DOID:8719); diabetic retinopathy (Disease Ontology:DOID:8947); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); type 2 diabetes mellitus (Disease Ontology:DOID:9352); oral mucosa leukoplakia (Disease Ontology:DOID:9655); senile cataract (Disease Ontology:DOID:9669); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:7515); (R-HSA-110381); (R-HSA-5649702); (R-HSA-5685939); (R-HSA-5696397); (R-HSA-6782210)", "pathway_count": 6, "publication_count": 230, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10783319;11163244;11237011;11340072;11440997;11782372;11904416;12097317;12124811;12565173;14500814;14652276;14652281;14755728;15044383;15066279;15104288;15135726;15252855;15260972;15367657;15380105;15381933;15533591;15561706;15561718;15665590;15800678;15840879;15970793;16012167;16142409;16195237;16397295;16425350;16457697;16492928;16542436;16796765;16875604;16959974;16963196;16982218;17081983;17086695;17118717;17196815;17287340;17316890;17353262;17397816;17425776;17507382;17531525;17559126;17666372;17682675;17935911;18199464;18212344;18452278;18505345;18669648;18701435;18765423;18806752;18971944;19007248;19031937;19061777;19155274;19191745;19266243;19279666;19284666;19336415;19357644;19413330;19446452;19651622;19664995;19673050;19690332;19886181;19934257;19963133;20068231;20112406;20166139;20227374;20450747;20471329;20483915;20647759;20814250;21282463;21345510;21406692;21612998;21637676;21647176;21745805;21816818;21860547;21945240;22106831;22186158;2247054;22579466;22639094;22655231;22901183;22938418;22983827;23103366;23167352;23186163;23317230;23385236;23409158;23430444;23481700;23496911;23534771;23584533;23636799;23662987;23679314;23886187;24048757;24175846;24266849;24275569;24353504;24414482;24423910;24761895;25018058;25023197;25062722;25114211;25201414;25218447;25227852;25245010;25335737;25340946;25481674;25536575;25576301;25642960;25642963;25643323;25690738;25772364;25789972;25813380;25892735;25927275;26011347;26124010;26250462;26375851;26418909;26434847;26482462;26519825;26664136;26695931;26770573;26823821;26967970;27165246;27221877;27323136;27600516;27706616;27706710;27707541;27920218;28002403;28063628;28081275;28228285;28423490;28510447;28638257;28733204;28740101;28761356;28832583;29059378;29133916;29242379;29285737;29331515;29353152;29508533;29552790;29632046;29632711;29769354;29786170;29789417;30315122;30316146;30524438;31154438;33907233;34019948;34102106;34616022;34811483;36284347;37938771;38217545;38253038;38337001;38896288;38898405;40596516;40914422;8003475;8978692;9214649;9485007;9875289", "class_list": "", "function": "Association of XRCC1 p. Arg194Trp gene polymorphism with the risk of hepatocellular carcinoma in HCV Egyptian population: A pilot case-control study., [RefSeq, PubMed]; Correlations of SDF-1a and XRCC1 gene polymorphisms with the risk of renal cancer development and bioinformatics studies of SDF-1alpha and XRCC1 and the prognosis of renal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Scaffold protein involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes (PubMed:11163244, PubMed:28002403). Negatively regulates ADP-ribosyltransferase activity of PARP1 during base-excision repair in order to prevent excessive PARP1 activity (PubMed:28002403, PubMed:34102106, PubMed:34811483). Recognizes and binds poly-ADP-ribose chains: specifically binds auto-poly-ADP-ribosylated PARP1, limiting its activity (PubMed:14500814, PubMed:34102106, PubMed:34811483)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; TRIM25-mediated XRCC1 ubiquitination accelerates atherosclerosis by inducing macrophage M1 polarization and programmed death., [RefSeq, PubMed]; The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]., [RefSeq]; XRCC1: a potential prognostic and immunological biomarker in LGG based on systematic pan-cancer analysis., [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": 1, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 53, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 52, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q6IBS4;Q9HCB1", "ec_number_list": [], "go_molecular_function": "GO:0072572 poly-ADP-D-ribose binding;GO:0019899 enzyme binding;GO:1990165 single-strand break-containing DNA binding;GO:0032356 oxidized DNA binding;GO:1990599 3' overhang single-stranded DNA endodeoxyribonuclease activity", "go_cellular_component": "GO:0070522 ERCC4-ERCC1 complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000785 chromatin", "go_biological_process": "GO:0061819 telomeric DNA-containing double minutes formation;GO:1905765 negative regulation of protection from non-homologous end joining at telomere;GO:0006284 base-excision repair;GO:0006302 double-strand break repair;GO:0006303 double-strand break repair via nonhomologous end joining", "synthesized_glycan_count": 0, "hit_score": 24.3, "record_id": "P18887-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23497-1", "uniprot_id": [ { "id": "SP100_HUMAN", "url": "https://www.uniprot.org/uniprot/P23497", "type": "external" } ], "mass": 100417.0, "length": 879, "protein_name": "Nuclear autoantigen Sp-100", "gene_name": "SP100", "organism": "Human", "refseq_name": "nuclear autoantigen Sp-100 isoform 1", "refseq_ac": [ { "id": "NP_001073860", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073860", "type": "external" } ], "gene_names_uniprotkb": "SP100", "gene_names_refseq": "SP100; lysp100b", "protein_names_uniprotkb": "Nuclear autoantigen Sp-100; Nuclear dot-associated Sp100 protein; Speckled 100 kDa", "protein_names_refseq": "SP100 nuclear antigen; SP100-HMG nuclear autoantigen; nuclear autoantigen Sp-100 isoform 1; nuclear autoantigen Sp-100; nuclear dot-associated Sp100 protein; speckled 100 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:6672); (R-HSA-3108214); (R-HSA-877300)", "pathway_count": 3, "publication_count": 209, "publication_id_list": "10052683;10067896;10212234;10233977;10574707;10766566;10986460;11237011;11313457;11574059;11792325;11862315;11889051;11909962;11972023;12040185;12438563;12446674;12470659;12806624;12915721;1396683;14586410;14647468;14722222;1508672;15143187;15175327;15247905;15322115;15355988;15388922;15530433;15592518;15608651;15767676;15823533;15829507;15882967;15940266;15959518;16030353;16177824;16237089;16467876;16478998;16608850;16626738;16688858;16810316;17081983;17125875;17245429;17322306;17693435;18362138;18452278;18591661;18625722;18669648;18691969;18708356;18991276;19287951;19415658;19596686;19622798;19651622;19690332;19706679;19779455;19956565;20016594;20016603;20049711;20058876;20068231;20130243;20166139;20190268;20304997;20363976;20705237;21098080;21118961;21147198;21274506;21284855;21550342;21880768;22086178;22508508;2258622;22635276;22661230;22751501;22869377;23061660;23186163;23301498;23481700;23750026;23871147;24027577;24275569;24366607;24417533;24715725;24782567;25114211;25218447;25576301;25593309;25645385;25755297;25772364;25880248;26154972;26375851;26758079;26992070;27211601;27543614;27846572;27920218;28228285;28411811;28436492;28514659;28832583;28834231;28855257;28904123;29242379;29351928;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30779550;30833945;31154438;31222486;31324691;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33239784;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34932366;35051231;35318648;35353002;35580925;36010968;36284347;36581221;37938771;38118002;40596516;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;7878031;8156998;8176225;8483949;8530158;8550631;8631301;8695863;8810287;9111318;9143706;9412458;9452416;9636146;9756909;9885291;9973607", "class_list": "", "function": "Histone lactylation-boosted ALKBH3 potentiates tumor progression and diminished promyelocytic leukemia protein nuclear condensates by m1A demethylation of SP100A., [RefSeq, PubMed]; PML Body Component Sp100A Restricts Wild-Type Herpes Simplex Virus 1 Infection., [RefSeq, PubMed]; This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]., [RefSeq]; Together with PML, this tumor suppressor is a major constituent of the PML bodies, a subnuclear organelle involved in a large number of physiological processes including cell growth, differentiation and apoptosis. Functions as a transcriptional coactivator of ETS1 and ETS2 according to PubMed:11909962. Under certain conditions, it may also act as a corepressor of ETS1 preventing its binding to DNA according to PubMed:15247905. Through the regulation of ETS1 it may play a role in angiogenesis, controlling endothelial cell motility and invasion. Through interaction with the MRN complex it may be involved in the regulation of telomeres lengthening. May also regulate TP53-mediated transcription and through CASP8AP2, regulate FAS-mediated apoptosis. Also plays a role in infection by viruses, including human cytomegalovirus and Epstein-Barr virus, through mechanisms that may involve chromatin and/or transcriptional regulation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 27, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "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": "B4DDX5;B8ZZD8;E7EUA7;E9PH61;F8WFE2;O75450;Q13343;Q8TE34;Q96F70;Q96T24;Q96T95;Q9NP33;Q9UE32", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046983 protein dimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0050792 regulation of viral process;GO:0032897 negative regulation of viral transcription;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "P23497-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41212-1", "uniprot_id": [ { "id": "ETV6_HUMAN", "url": "https://www.uniprot.org/uniprot/P41212", "type": "external" } ], "mass": 53000.0, "length": 452, "protein_name": "Transcription factor ETV6", "gene_name": "ETV6", "organism": "Human", "refseq_name": "transcription factor ETV6 isoform 1", "refseq_ac": [ { "id": "NP_001978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001978", "type": "external" } ], "gene_names_uniprotkb": "ETV6; TEL1; TEL", "gene_names_refseq": "ETV6; TEL/ABL; TEL; THC5", "protein_names_uniprotkb": "Transcription factor ETV6; ETS translocation variant 6; ETS-related protein Tel1; Tel", "protein_names_refseq": "ETS-related protein Tel1; ETV6-RUNX1 fusion protein; TEL1 oncogene; ets variant gene 6 (TEL oncogene); transcription factor ETV6 isoform 1; transcription factor ETV6", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); myeloid neoplasm (Disease Ontology:DOID:0070004); myeloproliferative disorder with eosinophilia (Disease Ontology:DOID:0111344); lymphoid leukemia (Disease Ontology:DOID:1037); leukemia (Disease Ontology:DOID:1240); thrombocytopenia (Disease Ontology:DOID:1588); myeloproliferative neoplasm (Disease Ontology:DOID:2226); acute myeloid leukemia (Disease Ontology:DOID:9119); thrombocytopenia 5 (MONDO:MONDO:0014536)", "pathway": " (hsa:2120); (R-HSA-9673768); (R-HSA-9703465)", "pathway_count": 3, "publication_count": 123, "publication_id_list": "10469654;10477709;10502316;10812249;11027663;11237011;12181402;12203785;12435397;12468433;12588862;12590135;15003515;15060146;15498859;15806161;16690743;16761019;17081983;17268528;17344859;17764812;18022807;18192505;18212344;18669648;19345670;19438505;19608861;19651622;19690332;20068231;20164854;20166139;20889717;21072051;21262971;21406692;21705501;22438257;22544926;22645359;23103841;23168613;24366607;24715725;24854988;25218447;25418920;25581430;25755297;25772364;26154972;26308771;26716518;26811146;26992070;27170215;27666490;27795560;27846572;27862975;28010895;28028030;28218747;28228285;28751768;28832583;28834231;28904123;29025582;29242379;29393594;29437277;29493099;29507660;29508533;29557506;29632046;29632711;29786170;29880609;30315122;30370255;30379171;30410026;30429286;30524438;30559310;31066629;31359998;31844290;32157095;32265295;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33633747;33912179;33968037;34211107;34509645;35051231;35580925;36241641;37381775;37415052;37938771;38356460;38441775;38665916;7731705;7761424;7780150;8168137;8743990;8962143;9326218;9918857", "class_list": "", "function": "Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia. Review article, [RefSeq, PubMed]; ETV6 fusions from insertions of exons 3-5 in pediatric hematologic malignancies. Publication Status: Online-Only, [RefSeq, PubMed]; ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression. Publication Status: Online-Only, [RefSeq, PubMed]; High-grade non-intestinal type sinonasal adenocarcinoma with ETV6::NTRK3 fusion, distinct from secretory carcinoma by immunoprofile and morphology., [RefSeq, PubMed]; This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]., [RefSeq]; Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation., [UniProtKB, 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": 12, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A3QVP6;A8K076;Q9UMF6;Q9UMF7;Q9UMG0", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0019904 protein domain specific binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA 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;GO:0005829 cytosol;GO:0005886 plasma membrane;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:0071425 hematopoietic stem cell proliferation", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "P41212-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35900-1", "uniprot_id": [ { "id": "K1C20_HUMAN", "url": "https://www.uniprot.org/uniprot/P35900", "type": "external" } ], "mass": 48487.0, "length": 424, "protein_name": "Keratin, type I cytoskeletal 20", "gene_name": "KRT20", "organism": "Human", "refseq_name": "keratin, type I cytoskeletal 20 precursor", "refseq_ac": [ { "id": "NP_061883", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061883", "type": "external" } ], "gene_names_uniprotkb": "KRT20", "gene_names_refseq": "CD20; CK-20; CK20; K20; KRT20; KRT21", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 20; CK-20; Cytokeratin-20; K20; Keratin-20; Protein IT", "protein_names_refseq": "cytokeratin 20; keratin 20, type I; keratin, type I cytoskeletal 20 precursor; keratin, type I cytoskeletal 20; protein IT", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:54474); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 70, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;10973561;11350120;11380615;11590230;12857878;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16083285;16382671;16608857;16639001;1691188;1694855;16959974;1696264;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20068231;20179351;20657595;20667819;20724476;20940292;21248752;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;26992070;27862975;29557506;29789417;31844290;35051231;35580925;35896219;37774064;38048694;38444113;39078783;7543090;7689500;8359595;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "Expression of cytokeratin 7/20 and Ki67 in Helicobacter pylori-associated gastritis and intestinal metaplasia. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of CD20 expression as a mechanism of resistance to mosunetuzumab in relapsed/refractory B-cell lymphomas., [RefSeq, PubMed]; Plays a significant role in maintaining keratin filament organization in intestinal epithelia. When phosphorylated, plays a role in the secretion of mucin in the small intestine (By similarity)., [UniProtKB, PubMed, PubMed]; Relevance of CD20 antigen expression among paediatric patients with B-lineage acute lymphoblastic leukaemia., [RefSeq, PubMed]; Significance of Intraperitoneal-free KRT20 and CEACAM6 mRNA Expression for Peritoneal Recurrence of Gastric Cancer., [RefSeq, PubMed]; The Association of P53, CK29, and FGFR3 Overexpression with the Characteristics of Urothelial Cell Carcinoma of the Bladder. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. [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, "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": 5, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 7, "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": "B2R6W7", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005882 intermediate filament;GO:0045095 keratin filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0006915 apoptotic process;GO:0050708 regulation of protein secretion;GO:0009267 cellular response to starvation;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P35900-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14872-1", "uniprot_id": [ { "id": "MTF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14872", "type": "external" } ], "mass": 80957.0, "length": 753, "protein_name": "Metal regulatory transcription factor 1", "gene_name": "MTF1", "organism": "Human", "refseq_name": "metal regulatory transcription factor 1", "refseq_ac": [ { "id": "NP_005946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005946", "type": "external" } ], "gene_names_uniprotkb": "MTF1", "gene_names_refseq": "MTF-1; MTF1; ZRF", "protein_names_uniprotkb": "Metal regulatory transcription factor 1; MRE-binding transcription factor; Transcription factor MTF-1", "protein_names_refseq": "MRE-binding transcription factor-1; metal regulatory transcription factor 1; metal-responsive transcription factor 1; transcription factor MTF-1; zinc regulatory factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:4520); (R-HSA-1989781); (R-HSA-2426168); (R-HSA-5660489)", "pathway_count": 4, "publication_count": 94, "publication_id_list": "10400691;10759542;10777541;11267664;11414710;11923282;12083769;12118000;12177166;12505311;12582161;12764144;1374386;1377680;15067378;15130092;15635043;16380219;16972786;17449569;17925399;18540824;18559965;18654640;18682402;18719978;18726356;18848529;19088433;1968462;19710929;19934321;20110263;20138239;20450493;20719759;20937905;21386983;22634312;23186163;24196956;24715725;25505266;25576301;25892735;26154972;26824222;26992070;27846572;27920218;28832583;28904123;29242379;29508533;29632711;30379171;30779550;30833945;31154438;31844290;32387766;33298915;33968037;33981976;34087483;35051231;35318648;35580925;36241641;36980293;38758016;38943058;7567999;7592729;7685352;7732023;7892212;7909540;8020941;8065932;8619637;8626466;8626488;8647822;8663599;8798690;8976377;9012850;9099716;9604010;9634533;9748239;9748295;9806846", "class_list": "", "function": "Genomic Redistribution of Metal-Response Transcription Factor-1 (MTF-1) in Cadmium Resistant Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Knocking-down long non-coding RNA LINC01094 prohibits chondrocyte apoptosis via regulating microRNA-577/metal-regulatory transcription factor 1 axis., [RefSeq, PubMed]; MTF1 genetic variants are associated with lung cancer risk in the Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; MTF1 heads a hierarchy of zinc sensors, and through controlling the expression of a raft of metallothioneins and other key proteins involved in controlling intracellular zinc levels (e.g. ZnT1) alters zinc buffering capacity and total cellular zinc content., [RefSeq, PubMed]; This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). [provided by RefSeq, Jul 2008]., [RefSeq]; Zinc-dependent transcriptional regulator of cellular adaption to conditions of exposure to heavy metals (PubMed:8065932). Binds to metal responsive elements (MRE) in promoters and activates the transcription of metallothionein genes like metallothionein-2/MT2A (PubMed:8065932). Also regulates the expression of metalloproteases in response to intracellular zinc and functions as a catabolic regulator of cartilages (By similarity)., [UniProtKB, PubMed, UniProtKB]", "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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "B2RAK6;Q96CB1", "ec_number_list": [], "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:0000987 cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "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:0007417 central nervous system development;GO:0071294 cellular response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q14872-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40938-1", "uniprot_id": [ { "id": "RFC3_HUMAN", "url": "https://www.uniprot.org/uniprot/P40938", "type": "external" } ], "mass": 40556.0, "length": 356, "protein_name": "Replication factor C subunit 3", "gene_name": "RFC3", "organism": "Human", "refseq_name": "replication factor C subunit 3 isoform 1", "refseq_ac": [ { "id": "NP_002906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002906", "type": "external" } ], "gene_names_uniprotkb": "RFC3", "gene_names_refseq": "RFC38; RFC3", "protein_names_uniprotkb": "Replication factor C subunit 3; A1 38 kDa subunit; Activator 1 38 kDa subunit; Activator 1 subunit 3; RF-C 38 kDa subunit; RFC38; Replication factor C 38 kDa subunit", "protein_names_refseq": "A1 38 kDa subunit; RF-C 38 kDa subunit; RFC, 38 kD subunit; activator 1 38 kDa subunit; activator 1 subunit 3; replication factor C (activator 1) 3, 38kDa; replication factor C 38 kDa subunit; replication factor C subunit 3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5983); (R-HSA-110312); (R-HSA-110314); (R-HSA-110320); (R-HSA-174411); (R-HSA-176187); (R-HSA-5651801); (R-HSA-5655862); (R-HSA-5656121); (R-HSA-5656169); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6804756); (R-HSA-69091); (R-HSA-69473); (R-HSA-9709570)", "pathway_count": 23, "publication_count": 326, "publication_id_list": "10051570;10212258;10329413;10373362;10373512;10435622;10438626;10460157;10500146;10536157;10551859;10559261;10570149;10570174;10604467;10656791;10656792;10660610;10673500;10673501;10710310;10733923;10744741;10744977;10751307;10760286;10777662;10801132;10827953;10856253;10859164;10884347;10884395;10887153;10921897;10959839;10984059;11006276;11058110;11080452;11139606;11237011;11239457;11250913;11301010;11376695;11390642;11447225;11485998;11511362;11546806;11551930;11571269;11572977;11601988;11687589;11698410;11740489;11751635;11780126;11784855;11832208;11917024;12064478;12139939;12145297;12152085;12191481;12200445;12226092;12226657;12228710;12370410;12379650;12393879;12399544;12444249;12545175;12578958;12584190;12676583;12676925;12702766;12750383;12759351;12766176;12791985;12851404;12914926;12930902;12952891;12963847;14500360;14517266;14576433;14603323;14605214;14624239;14657033;14702041;14734547;15053879;15066120;15149598;15189136;15189446;15190204;15199127;15226314;15254543;15359272;15475561;15485900;15590680;15657443;15665856;15703751;15707391;15743907;15833913;15866171;15916957;16139798;16148040;16153896;16246722;16322561;16327781;16337601;16344468;16357261;16360315;16407120;16464020;16530042;16531995;16611994;1671046;16819516;1682322;16885023;17000769;17043239;17108107;17349958;17466625;17466626;17515903;17517887;17525332;17575048;17591690;17720710;17928296;17948053;17962301;17965729;18079701;18171670;18242152;18317453;18342608;18480045;18490454;18539610;18541667;18757400;18805091;18923075;18971343;19074197;19121998;19153606;19170759;19223468;19279666;19357644;19419957;19492058;19608861;1974050;19940136;19941829;19965871;20008555;20068231;20129063;20154705;20159558;20159559;20164194;20227374;20233725;20660785;20729832;20729858;20729859;20952260;20959462;20965415;21052091;21143968;21240188;21263215;21282463;21317932;21325134;21335604;21565612;21628590;2165567;21659603;21680713;21777809;21791603;21804533;22021381;22024395;22081108;22194698;22231403;22635276;22661229;22661230;22681887;22700975;22721435;22772988;22792074;22859295;22859296;22902628;22952233;22977173;23000554;23000965;23042605;23042607;23143872;23149936;23301498;23345434;23468639;23485397;23593430;23676219;23686288;23731732;23810717;24013206;24038470;24115439;24145406;24402227;24449906;24485656;24648516;24768535;24874608;25113031;25122754;25558984;25659039;26145171;26992070;28510447;28904123;29242379;29493099;31844290;32157095;32357974;32387766;32488085;32870666;32897882;32938616;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33978741;34171305;34405274;34440403;34509645;34932366;35051231;35083852;36172813;36581221;37217939;37861747;38383698;3941892;7378348;7700386;7713898;8078911;8104944;8196638;8441605;8658138;8702565;8751446;8943031;8954124;8999859;9191022;9214649;9278511;9278512;9488738;9649448;9660172;9699634;9705271;9716411;9780000;9822671;9837724;9875289;9925639", "class_list": "", "function": "Abnormal activation of RFC3, A YAP1/TEAD downstream target, promotes gastric cancer progression., [RefSeq, PubMed]; RFC3 serves as a novel prognostic biomarker and target for head and neck squamous cell carcinoma., [RefSeq, PubMed]; Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA., [UniProtKB, PubMed]; The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [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, "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": 0, "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": "C9JU95;O15252;Q5W0E8", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008094 ATP-dependent activity, acting on DNA;GO:0003689 DNA clamp loader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031390 Ctf18 RFC-like complex;GO:0005663 DNA replication factor C complex", "go_biological_process": "GO:0000076 DNA replication checkpoint signaling;GO:0006271 DNA strand elongation involved in DNA replication;GO:0006281 DNA repair;GO:0006260 DNA replication;GO:1900264 positive regulation of DNA-directed DNA polymerase activity", "synthesized_glycan_count": 0, "hit_score": 32.9, "record_id": "P40938-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CG3-1", "uniprot_id": [ { "id": "TIFA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CG3", "type": "external" } ], "mass": 21445.0, "length": 184, "protein_name": "TRAF-interacting protein with FHA domain-containing protein A", "gene_name": "TIFA", "organism": "Human", "refseq_name": "TRAF-interacting protein with FHA domain-containing protein A", "refseq_ac": [ { "id": "NP_443096", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443096", "type": "external" } ], "gene_names_uniprotkb": "TIFA; T2BP", "gene_names_refseq": "T2BP; T6BP; TIFAA; TIFA", "protein_names_uniprotkb": "TRAF-interacting protein with FHA domain-containing protein A; Putative MAPK-activating protein PM14; Putative NF-kappa-B-activating protein 20; TRAF2-binding protein", "protein_names_refseq": "TRAF-interacting protein with FHA domain-containing protein A; TRAF-interacting protein with a forkhead-associated domain; TRAF2 binding protein; TRAF6 binding protein; putative MAPK-activating protein PM14; putative NF-kappa-B-activating protein 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:92610); (R-HSA-445989); (R-HSA-9645460)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10702308;10723127;10838074;11323434;12566447;12761501;15047173;15145317;15327770;15492226;16056267;16186825;16260493;16289117;16643855;17047224;17135271;17496917;17728323;18462684;19675569;22566686;24366607;24715725;25418920;25469497;25892735;26068852;26154972;26375851;26389808;26811146;26992070;27397612;27701768;27846572;27893789;27920218;27965388;28069801;28218747;28222186;28228285;28649982;28832583;28877472;28904123;29242379;29393594;29437277;29557506;29632046;29632711;29769354;29786170;30111836;30315122;30410026;30455202;30779550;31217245;31530632;31844290;32265295;32350084;32357974;32387766;32420802;32938616;33298915;33392160;33936100;33968037;34238983;34328245;34405274;34932366;35580925;35635239;36098982;36586274;39894887;8638164;9865693", "class_list": "", "function": "Adapter molecule that plays a key role in the activation of pro-inflammatory NF-kappa-B signaling following detection of bacterial pathogen-associated molecular pattern metabolites (PAMPs) (PubMed:12566447, PubMed:15492226, PubMed:26068852, PubMed:28222186, PubMed:28877472, PubMed:30111836). Promotes activation of an innate immune response by inducing the oligomerization and polyubiquitination of TRAF6, which leads to the activation of TAK1 and IKK through a proteasome-independent mechanism (PubMed:15492226, PubMed:26068852). TIFA-dependent innate immune response is triggered by ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria: ADP-Heptose is recognized by ALPK1, which phosphorylates TIFA at Thr-9, leading to TIFA homooligomerization and subsequent activation of pro-inflammatory NF-kappa-B signaling (PubMed:30111836)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TIFA has dual functions in Helicobacter pylori-induced classical and alternative NF-kappaB pathways., [RefSeq, PubMed]; TIFA induces the oligomerization and polyubiquitination of TRAF6, which leads to the activation of TAK1 and IKK through a proteasome-independent mechanism, [RefSeq, PubMed]; TIFA promotes colorectal cancer cell proliferation in an RSK- and PRAS40-dependent manner., [RefSeq, PubMed]; TIFA protein expression is associated with pulmonary arterial hypertension. Publication Status: Online-Only, [RefSeq, PubMed]; The potential biomarker TIFA regulates pyroptosis in sepsis-induced acute kidney injury., [RefSeq, PubMed]; This gene encodes an adapter protein involved in adaptive and innate immunity. This protein includes a forkhead-associated (FHA) domain that specifically binds to phosphorylated serine and threonine residues. In response to bacterial infection, the encoded host cell protein undergoes an intermolecular interaction between the FHA domain and a phosphorylated threonine that leads to protein oligomerization and stimulation of the NF-kappa B and other downstream signaling pathways. This protein exhibits reduced expression in hepatocellular carcinoma and may suppress hepatocellular carcinoma progression. This protein may also play a role in the DNA damage response. [provided by RefSeq, Jun 2018]., [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": 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": 6, "reported_glycation": 0, "reported_snv": 0, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0051260 protein homooligomerization;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0033209 tumor necrosis factor-mediated signaling pathway;GO:0043122 regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q96CG3-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A72-1", "uniprot_id": [ { "id": "MGN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A72", "type": "external" } ], "mass": 17276.0, "length": 148, "protein_name": "Protein mago nashi homolog 2", "gene_name": "MAGOHB", "organism": "Human", "refseq_name": "protein mago nashi homolog 2 isoform 2", "refseq_ac": [ { "id": "NP_001306914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306914", "type": "external" } ], "gene_names_uniprotkb": "MAGOHB; MAGOH2", "gene_names_refseq": "MAGOHB; MGN2; magoh; mago", "protein_names_uniprotkb": "Protein mago nashi homolog 2", "protein_names_refseq": "mago homolog B, exon junction complex core component; mago-nashi homolog B; protein mago nashi homolog 2 isoform 2; protein mago nashi homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55110); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-9010553); (R-HSA-975957)", "pathway_count": 6, "publication_count": 187, "publication_id_list": "10228171;10323864;10489353;10668806;10882114;11014198;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11331269;11532962;11544179;11546874;11551508;11579093;11739738;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12417715;12477934;12554878;12718880;12832468;12871933;14527413;14625303;14636577;14713954;14742663;14973490;15034551;15546618;15721257;15998806;16186820;16209946;16284618;16314397;16314458;16452507;16601204;16809785;16959974;17000901;17053788;17095540;17190602;17332742;17352659;17363904;17606899;17803942;17893241;17984224;18066079;18256688;18322460;18364396;18411249;18423201;18423202;18524595;18593880;18657639;18957205;18974281;19060897;19103666;19150429;19165350;19359157;19417104;19478851;19503078;19536130;19556969;19706539;19836239;19859661;19909264;20023408;20129943;20423332;20479275;20573985;20691628;20817927;20844015;20930030;20980672;21145460;21419344;21536652;2176635;21947206;22110043;22207203;22223895;22365833;22893130;22928037;22959432;22961380;23085078;23217742;23222130;23234702;23236153;23299939;23345524;23746841;23826332;23917022;24196718;24244187;24304693;24448447;24737827;24914973;25242263;25555158;2558966;25662211;25836925;25892735;26385511;26420826;26969736;27377154;27459055;27683217;28062851;28076346;28228285;28502770;28781166;28904123;29301961;29360106;29361316;29557506;2963332;29769354;30315277;30429286;30705154;30728453;30765414;30906664;30975767;31092671;31409651;31844290;32179686;32329775;32494006;33243851;33446560;33717175;34019948;34301950;34822310;35385551;36497117;36581221;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9618489;9660949;9671485;9701291;9731529", "class_list": "", "function": "Findings show 2 genes MAGOH and MAGOHB are expressed in mammals; in macrophages, expression of MAGOHB but not MAGOH mRNA increases after LPS stimulation; both MAGOH proteins interact with other exon junction complex (EJC) components, incorporate into mRNA-bound EJCs and activate nonsense-mediated decay, [RefSeq, PubMed]; MAGOH and MAGOHB Knockdown in Melanoma Cells Decreases Nonsense-Mediated Decay Activity and Promotes Apoptosis via Upregulation of GADD45A. Publication Status: Online-Only, [RefSeq, PubMed]; Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961, PubMed:30705154). Plays a redundant role with MAGOH in the exon junction complex and in the nonsense-mediated decay (NMD) pathway (PubMed:23917022)., [UniProtKB, PubMed, PubMed, PubMed, 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0043025 neuronal cell body;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0006406 mRNA export from nucleus;GO:0008380 RNA splicing;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0000398 mRNA splicing, via spliceosome;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "Q96A72-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTT0-1", "uniprot_id": [ { "id": "AN32E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTT0", "type": "external" } ], "mass": 30692.0, "length": 268, "protein_name": "Acidic leucine-rich nuclear phosphoprotein 32 family member E", "gene_name": "ANP32E", "organism": "Human", "refseq_name": "acidic leucine-rich nuclear phosphoprotein 32 family member E isoform 2", "refseq_ac": [ { "id": "NP_001129950", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129950", "type": "external" } ], "gene_names_uniprotkb": "ANP32E", "gene_names_refseq": "ANP32E; LANP-L; LANPL", "protein_names_uniprotkb": "Acidic leucine-rich nuclear phosphoprotein 32 family member E; LANP-L; LANP-like protein", "protein_names_refseq": "LANP-like protein; acidic (leucine-rich) nuclear phosphoprotein 32 family, member E; acidic leucine-rich nuclear phosphoprotein 32 family member E isoform 2; leucine-rich acidic nuclear protein like", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:81611)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12438741;17287340;18452278;20112406;21993680;22898188;23301498;23481700;24366607;24463511;25418920;25576301;26154972;26811146;26992070;27846572;27920218;28063628;28510447;28832583;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29786170;30315122;30833945;31154438;31222486;31530632;31611695;31844290;32157095;32265295;32387766;32488085;32502341;32897882;32938616;32983136;33148205;33214551;33592498;33691108;33717175;33936100;33968037;34019948;34171305;34922480;35051231;35138101;35580925;35795988;36010968;36215666;36284347;36581221;37816726;38482865;39990658;40914422", "class_list": "", "function": "ANP32E contributes to gastric cancer progression via NUF2 upregulation., [RefSeq, PubMed]; ANP32e Binds Histone H2A.Z in a Cell Cycle-Dependent Manner and Regulates Its Protein Stability in the Cytoplasm., [RefSeq, PubMed]; An Influenza A virus can evolve to use human ANP32E through altering polymerase dimerization. Publication Status: Online-Only, [RefSeq, PubMed]; Histone chaperone that specifically mediates the genome-wide removal of histone H2A.Z/H2AZ1 from the nucleosome: removes H2A.Z/H2AZ1 from its normal sites of deposition, especially from enhancer and insulator regions. Not involved in deposition of H2A.Z/H2AZ1 in the nucleosome. May stabilize the evicted H2A.Z/H2AZ1-H2B dimer, thus shifting the equilibrium towards dissociation and the off-chromatin state. Inhibits activity of protein phosphatase 2A (PP2A). Does not inhibit protein phosphatase 1. May play a role in cerebellar development and synaptogenesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB]; Multifunctional protein that is involved in the regulation of many processes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Over-expression of ANP32E is associated with poor prognosis of pancreatic cancer and promotes cell proliferation and migration through regulating beta-catenin. Publication Status: Online-Only, [RefSeq, PubMed]; Subtype-Independent ANP32E Reduction During Breast Cancer Progression in Accordance with Chromatin Relaxation. Publication Status: Online-Only, [RefSeq, PubMed]; The gene was cloned and identified during large-scale sequencing analysis of a human fetal brain cDNA library., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4E0I6;E9PEA6;Q5TB18;Q5TB20;Q8N1S4;Q8WWW9", "ec_number_list": [], "go_molecular_function": "GO:0019212 phosphatase inhibitor activity;GO:0042393 histone binding;GO:0044183 protein folding chaperone;GO:0140713 histone chaperone activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0031410 cytoplasmic vesicle;GO:0030672 synaptic vesicle membrane;GO:0000812 Swr1 complex", "go_biological_process": "GO:0006325 chromatin organization;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9BTT0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99873-1", "uniprot_id": [ { "id": "ANM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99873", "type": "external" } ], "mass": 42462.0, "length": 371, "protein_name": "Protein arginine N-methyltransferase 1", "gene_name": "PRMT1", "organism": "Human", "refseq_name": "protein arginine N-methyltransferase 1 isoform 4", "refseq_ac": [ { "id": "NP_001193971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193971", "type": "external" } ], "gene_names_uniprotkb": "PRMT1; HMT2; HRMT1L2; IR1B4", "gene_names_refseq": "ANM1; HCP1; HRMT1L2; IR1B4; PRMT1", "protein_names_uniprotkb": "Protein arginine N-methyltransferase 1; 2.1.1.319; Histone-arginine N-methyltransferase PRMT1; Interferon receptor 1-bound protein 4", "protein_names_refseq": "HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2; heterogeneous nuclear ribonucleoprotein methyltransferase 1-like 2; highly conserved protein 1; histone-arginine N-methyltransferase PRMT1; interferon receptor 1-bound protein 4; protein arginine N-methyltransferase 1 isoform 4; protein arginine N-methyltransferase 1", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841); cleft palate (Disease Ontology:DOID:674)", "pathway": " (hsa:3276); (R-HSA-3214858); (R-HSA-6804114); (R-HSA-8936459); (R-HSA-9009391); (R-HSA-9018519); (R-HSA-9694631)", "pathway_count": 7, "publication_count": 362, "publication_id_list": "10319328;10427092;10500157;10524633;10617663;10749851;10749889;10806474;10828826;10873660;11010967;11029009;11029403;11034064;11043579;11044445;11097842;11101900;11103799;11136970;11165043;11185956;11237011;11341840;11345900;11369763;11387442;11410592;11448779;11452016;11574543;11581164;11682626;11689445;11747826;11751582;11756452;11773442;11773443;11825873;11981029;12048194;12388769;12421825;12431978;12483298;12498683;12511868;12576332;12588983;12612073;12682286;12718890;12808053;12881510;12959972;1378832;14631847;14675539;14764897;15001666;15033483;15044318;15084609;15090535;15186775;15231873;15276198;15282324;15314172;15343269;15345050;15467163;15485929;15496458;15514030;15569929;15574328;15657067;15705661;15741314;15848177;15956360;15986123;16009131;16046058;16087863;16113099;16239258;16274718;16294045;1630819;16408927;16628190;16636149;16645038;16772293;16835357;16879614;16980581;17013392;17037979;17172876;17215844;17277772;17424910;17463000;17495528;17510434;17525128;17535799;17637753;17666587;17690249;17719541;17898714;17916740;17921256;18079182;18083107;18187655;18206197;18219272;18256232;18316480;18320585;18322535;18358809;18404153;18476782;18533032;18657504;18762174;18773938;18805503;18951090;18991276;19001364;19020303;19098913;19114653;19124016;19136629;19138696;19234465;19274700;19295514;19321454;19383337;19509293;19718048;19879889;20112406;20219941;20220130;20339092;20439495;20442406;20460379;20473859;20498280;20570965;20650261;20682797;20861220;20876458;20951943;21106759;21129147;21151129;21252065;21316606;21445275;21573489;21680538;21724836;21725049;21774791;2181374;21835891;21851428;21878914;21934649;21940756;22028449;22031296;22056668;22095282;22231400;22265404;22266855;22446104;22492511;22545144;22704330;22777353;23145106;23172872;23186163;23192763;23301498;23303788;23403292;23435229;23485469;23723241;23906331;24039841;24096481;24167369;24371278;24530924;24735615;24854081;24885040;24973012;24998469;25284789;25296600;25365482;25433557;25542856;25587652;25633194;25663755;25674852;25728767;25733715;25748791;25892735;26010396;26056233;26153859;26204489;26462610;26479350;26575292;26598975;26876602;27062924;27288742;27642082;27862975;27886276;28040436;28510447;28539435;29186683;2919170;29199039;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29651020;29738483;29769354;29786170;30315122;30410026;3045126;30484775;30765518;30779550;30833945;31154438;31217245;31222486;31257072;31530632;31655611;31844290;31848261;32029454;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32637943;32645325;32723359;3281094;32817937;32877642;32897882;32938616;32983136;33141586;33214551;33248025;33298915;33537174;33592498;33691108;33717175;33859753;33912179;33936100;33968037;33981976;33997890;34019948;34029587;34087483;34171305;34185709;34211107;34357683;34509645;34561969;34725712;34932366;3498214;35051231;35083852;35138101;35254053;35318648;35561310;35580925;36010968;36241641;36284347;3677090;38006878;38665916;39251943;39300069;40307207;7526779;7559524;7750475;7784094;7935485;7937828;7973727;8195246;8197458;8419924;8675017;8782602;8876171;8876252;9173876;9201922;9338790;9388265;9395517;9545638;9565625;9611253;9616126;9642256;9659898;9671459;9731700", "class_list": "", "function": "Arginine methyltransferase that methylates (mono and asymmetric dimethylation) the guanidino nitrogens of arginyl residues present in proteins such as ESR1, histone H2, H3 and H4, FMR1, ILF3, HNRNPA1, HNRNPD, NFATC2IP, SUPT5H, TAF15, EWS, HABP4, SERBP1, RBM15, FOXO1, CHTOP, MAP3K5/ASK1, MICU1 and NPRL2 (PubMed:10749851, PubMed:15741314, PubMed:16879614, PubMed:18951090, PubMed:22095282, PubMed:25284789, PubMed:26575292, PubMed:26876602, PubMed:27642082, PubMed:30765518, PubMed:31257072, PubMed:38006878). Constitutes the main enzyme that mediates monomethylation and asymmetric dimethylation of histone H4 'Arg-3' (H4R3me1 and H4R3me2a, respectively), a specific tag for epigenetic transcriptional activation. May be involved in the regulation of TAF15 transcriptional activity, act as an activator of estrogen receptor (ER)-mediated transactivation, play a key role in neurite outgrowth and act as a negative regulator of megakaryocytic differentiation, by modulating p38 MAPK pathway. Methylates RBM15, promoting ubiquitination and degradation of RBM15 (PubMed:26575292). Methylates MRE11 and TP53BP1, promoting the DNA damage response (PubMed:15741314, PubMed:16294045, PubMed:29651020). Methylates FOXO1 and retains it in the nucleus increasing its transcriptional activity (PubMed:18951090). Methylates CHTOP and this methylation is critical for its 5-hydroxymethylcytosine (5hmC)-binding activity (PubMed:25284789). Methylates MAP3K5/ASK1 at 'Arg-78' and 'Arg-80' which promotes association of MAP3K5 with thioredoxin and negatively regulates MAP3K5 association with TRAF2, inhibiting MAP3K5 stimulation and MAP3K5-induced activation of JNK (PubMed:22095282). Methylates H4R3 in genes involved in glioblastomagenesis in a CHTOP- and/or TET1-dependent manner (PubMed:25284789). Plays a role in regulating alternative splicing in the heart (By similarity). Methylates NPRL2 at 'Arg-78' leading to inhibition of its GTPase activator activity and then the GATOR1 complex and consequently inducing timely mTORC1 activation under methionine-sufficient conditions (PubMed:38006878). Methylates the C-terminus of DSP, promoting its phosphorylation by GSK3B and subsequent recruitment to desmosome cell-cell junctions (PubMed:25733715)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; P4HB regulates the TGFbeta/SMAD3 signaling pathway through PRMT1 to participate in high glucose-induced epithelial-mesenchymal transition and fibrosis of renal tubular epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; PRMT1 inhibition perturbs RNA metabolism and induces DNA damage in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; PRMT1 may be involved in human carcinogenesis and may thus be a therapeutic target for various types of cancer., [RefSeq, PubMed]; This gene encodes a member of the protein arginine N-methyltransferase (PRMT) family. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to terminal guanidino nitrogen atoms. The encoded protein is a type I PRMT and is responsible for the majority of cellular arginine methylation activity. Increased expression of this gene may play a role in many types of cancer. 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 5. [provided by RefSeq, Dec 2011]., [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": 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": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A087X1W2;B4E3C3;G5E9B6;H7C2I1;Q15529;Q2VP93;Q6LEU5;Q8WUW5;Q99872;Q99874;Q9NZ04;Q9NZ05;Q9NZ06", "ec_number_list": [ { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "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": "2.1.1.321", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.321", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0008170 N-methyltransferase activity;GO:0008276 protein methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005765 lysosomal membrane", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0019082 viral protein processing;GO:0006338 chromatin remodeling;GO:0007166 cell surface receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 36.5, "record_id": "Q99873-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02652-1", "uniprot_id": [ { "id": "APOA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P02652", "type": "external" } ], "mass": 11175.0, "length": 100, "protein_name": "Apolipoprotein A-II", "gene_name": "APOA2", "organism": "Human", "refseq_name": "apolipoprotein A-II preproprotein", "refseq_ac": [ { "id": "NP_001634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001634", "type": "external" } ], "gene_names_uniprotkb": "APOA2", "gene_names_refseq": "APOA2D; APOA2; Apo-AII; ApoA-II; apoAII", "protein_names_uniprotkb": "Apolipoprotein A-II; Apo-AII; ApoA-II; Apolipoprotein A-II(1-76); Apolipoprotein A2", "protein_names_refseq": "apolipoprotein A-II preproprotein; apolipoprotein A-II", "tax_id": 9606, "disease": "familial combined hyperlipidemia (Disease Ontology:DOID:13809); familial hypercholesterolemia (Disease Ontology:DOID:13810); coronary artery disease (Disease Ontology:DOID:3393); hepatocellular carcinoma (Disease Ontology:DOID:684); hyperthyroidism (Disease Ontology:DOID:7998); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); apolipoprotein A-II deficiency (MONDO:MONDO:0980749)", "pathway": " (hsa:336); (R-HSA-1989781); (R-HSA-381426); (R-HSA-8957275); (R-HSA-8963888); (R-HSA-8963901); (R-HSA-975634)", "pathway_count": 7, "publication_count": 191, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026136;10052934;10077652;10218588;10498661;10512690;10614670;10681634;10769148;10777541;10810289;10898936;10912521;10951195;10990447;11060341;11158056;11181758;11237011;11250653;11264294;11267664;11274389;11316783;11522292;11606061;11739083;11751371;11788658;11991719;12118000;12136239;12177166;12241545;12269810;12379487;12466191;12505311;12518019;12562854;12576517;12582161;12692552;1279089;12810533;12904166;1370451;1383255;14732096;15067378;15126567;15130092;15308688;15358783;1542003;15469690;15485880;15525596;15583000;15635043;15642270;15922294;16200213;16380219;16939223;16972786;17047378;17249697;17312271;17525477;17644776;17985932;18087047;18295589;18460466;1848237;18507396;18540824;1856611;18719978;18848529;19014918;19088433;19139408;19562805;19710929;19824718;19934321;20110263;2107739;21081667;21106934;21851338;22299025;23234360;23584533;23783831;24106281;24116940;24196956;2476804;2479552;25813380;26091039;27397612;27452731;27726376;27862975;2793848;28228285;29242379;29314611;29557506;29632711;29789417;2989800;2995928;30459171;3088392;31154438;31611695;31844290;32157095;32350084;32387766;32983136;33091337;33214551;33968037;34171305;34357683;34472376;34509645;35051231;35580925;35883173;36082946;36215666;36284347;3714052;37501507;37938771;38062157;3942763;4344225;4345202;5057882;5675424;6089788;6328445;6407957;6420172;6428397;6961410;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7683668;7685352;7689487;7892212;7918467;8017323;8300609;8384721;8626595;8647822;8728311;8781553;8817670;8894645;8964575;9012850;9497324;9709957;9733769;9748239;9786878;9888420;9920938;9922210;9925661", "class_list": "", "function": "Apolipoprotein A2 isoforms associated with exocrine pancreatic insufficiency in early chronic pancreatitis., [RefSeq, PubMed]; CETP and APOA2 polymorphisms are associated with weight loss and healthy eating behavior changes in response to digital lifestyle modifications. Publication Status: Online-Only, [RefSeq, PubMed]; Dietary acid load modifies the effects of ApoA2-265 T > C polymorphism on lipid profile and serum leptin and ghrelin levels among type 2 diabetic patients. Publication Status: Online-Only, [RefSeq, PubMed]; May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism., [UniProtKB]; Resolution of apolipoprotein A1 and A2 proteoforms: their cardiometabolic correlates and implications for future research. Review article, [RefSeq, PubMed]; Spectrum of Apolipoprotein AI and Apolipoprotein AII Proteoforms and Their Associations With Indices of Cardiometabolic Health: The CARDIA Study., [RefSeq, PubMed]; This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [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, "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": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 9, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2R524", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005319 lipid transporter activity;GO:0005543 phospholipid binding;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol", "go_biological_process": "GO:0006641 triglyceride metabolic process;GO:0033700 phospholipid efflux;GO:0042157 lipoprotein metabolic process;GO:0009395 phospholipid catabolic process;GO:0050995 negative regulation of lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "P02652-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75386-1", "uniprot_id": [ { "id": "TULP3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75386", "type": "external" } ], "mass": 49642.0, "length": 442, "protein_name": "Tubby-related protein 3", "gene_name": "TULP3", "organism": "Human", "refseq_name": "tubby-related protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001153880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880", "type": "external" } ], "gene_names_uniprotkb": "TULP3; TUBL3", "gene_names_refseq": "HRCDF; TUBL3; TULP3", "protein_names_uniprotkb": "Tubby-related protein 3; Tubby-like protein 3", "protein_names_refseq": "tubby like protein 3; tubby-related protein 3 isoform 2; tubby-related protein 3", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); polycystic kidney disease (Disease Ontology:DOID:0080322); obesity (Disease Ontology:DOID:9970); hepatorenocardiac degenerative fibrosis (MONDO:MONDO:0859254)", "pathway": " (hsa:7289); (R-HSA-5610787)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10966113;11237011;11375483;12192414;12435627;14603322;15087129;15930098;16061793;16136078;16229832;16254602;16311594;16339192;16396903;16493421;16707575;17027958;17200122;17442700;17553904;17641202;17762891;17960137;18327258;18455992;18832070;19000668;19196978;19223390;19286674;19365551;19549984;19592253;19666503;19767740;19776033;19877275;19906846;19948480;19996169;20067783;20154143;20207148;20395968;20412786;20460306;20634891;20844016;20889716;20956384;2105456;21209331;21695114;21801010;22007132;22231273;22391300;23209152;23332756;23481700;23719536;24302888;24339784;24715725;24845016;24863049;24917297;24925320;24952464;25576301;27600516;27846572;27920218;27932497;28228285;28904123;29242379;29393594;29557506;29786170;30484775;30779550;30833945;31530632;31761534;31844290;32157095;32161166;32387766;32488085;32502341;32938616;32983136;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35344762;35397207;35580925;36010968;36775821;9828123", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations., [RefSeq, PubMed]; Protein-protein adapter that drives transport of G protein-coupled receptors into primary cilia by mediating association between the intraflagellar transport complex A (IFT-A) and G protein-coupled receptors FFAR4, GPR45 and GPR161 (PubMed:11375483, PubMed:20889716, PubMed:31761534, PubMed:36775821). Acts as a negative regulator of the Shh signaling by promoting trafficking of GPR161 to cilia (PubMed:20889716, PubMed:36775821). During adipogenesis, regulates ciliary trafficking of FFAR4 in preadipocytes (PubMed:31761534). Promotes transport of GPR45 into primary cilia of neurons in paraventricular nucleus (PVN) of the hypothalamus (By similarity). Binds to phosphorylated inositide (phosphoinositide) lipids; both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking (PubMed:11375483, PubMed:20889716). Besides its role in cilium localization, acts as a regulator of AMP-activated protein kinase (AMPK) activity in response to calorie restriction: binds lithocholic acid, a metabolite generated in response to calorie restriction, promoting TULP3 ability to activate SIRT1, which then deacetylates the ATP6V1E1 subunit of the V-ATPase complex, leading to (1) V-ATPase complex inhibition on lysosomes and (2) AMPK activation via the AXIN1-STK11/LKB1 axis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; TULP3 silencing suppresses cell proliferation, migration and invasion in gastric cancer via the PTEN/Akt/Snail pathway., [RefSeq, PubMed]; This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 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, "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": 4, "reported_glycation": 0, "reported_snv": 5, "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": "B3KNB7;B7Z6A2;D3DUQ4;F8WBZ9;Q8N5B0", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0019899 enzyme binding;GO:0030674 protein-macromolecule adaptor activity;GO:0001664 G protein-coupled receptor binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0006355 regulation of DNA-templated transcription;GO:0061512 protein localization to cilium;GO:0097499 protein localization to non-motile cilium;GO:0045879 negative regulation of smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "O75386-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWW0-1", "uniprot_id": [ { "id": "RASF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWW0", "type": "external" } ], "mass": 47090.0, "length": 418, "protein_name": "Ras association domain-containing protein 5", "gene_name": "RASSF5", "organism": "Human", "refseq_name": "ras association domain-containing protein 5 isoform A", "refseq_ac": [ { "id": "NP_872604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872604", "type": "external" } ], "gene_names_uniprotkb": "RASSF5; NORE1; RAPL", "gene_names_refseq": "Maxp1; NORE1A; NORE1B; NORE1; RAPL; RASSF5", "protein_names_uniprotkb": "Ras association domain-containing protein 5; New ras effector 1; RAPL; Regulator for cell adhesion and polarization enriched in lymphoid tissues", "protein_names_refseq": "Rap1-binding protein; Ras association (RalGDS/AF-6) domain family 5; Ras association (RalGDS/AF-6) domain family member 5; Ras effector-like protein; new ras effector 1; novel Ras effector 1; ras association domain-containing protein 5 isoform A; ras association domain-containing protein 5; regulator for cell adhesion and polarization enriched in lymphoid tissue", "tax_id": 9606, "disease": "lung non-small cell carcinoma (Disease Ontology:DOID:3908); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:83593)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;11965544;12676952;12845325;15109305;15569673;18691976;19369195;23186163;23481700;25576301;25645385;26154972;26992070;27846572;28228285;28832583;28904123;29393594;29493099;29557506;30315122;30484775;30833945;31130282;31154438;31217245;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33691108;33717175;33912179;33936100;33968037;33981976;34717958;34932366;35051231;35318648;35561310;35580925;36215666;36284347;38459853", "class_list": "", "function": "Engineered variants of the Ras effector protein RASSF5 (NORE1A) promote anticancer activities in lung adenocarcinoma., [RefSeq, PubMed]; Potential tumor suppressor. Seems to be involved in lymphocyte adhesion by linking RAP1A activation upon T-cell receptor or chemokine stimulation to integrin activation. Isoform 2 stimulates lymphocyte polarization and the patch-like distribution of ITGAL/LFA-1, resulting in an enhanced adhesion to ICAM1. Together with RAP1A may participate in regulation of microtubule growth. The association of isoform 2 with activated RAP1A is required for directional movement of endothelial cells during wound healing. May be involved in regulation of Ras apoptotic function. The RASSF5-STK4/MST1 complex may mediate HRAS and KRAS induced apoptosis., [UniProtKB, PubMed, PubMed, PubMed]; The Rejuvenation and Functional Restoration of Aged Adipose Stem Cells by DUXAP10 Knockdown via the Regulation of the miR-214-3p/RASSF5 Axis., [RefSeq, PubMed]; This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [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, "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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K1E6;Q5SY32;Q8WWV9;Q8WXF4;Q9BT99", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005874 microtubule", "go_biological_process": "GO:0007165 signal transduction;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q8WWW0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20073-1", "uniprot_id": [ { "id": "ANXA7_HUMAN", "url": "https://www.uniprot.org/uniprot/P20073", "type": "external" } ], "mass": 52739.0, "length": 488, "protein_name": "Annexin A7", "gene_name": "ANXA7", "organism": "Human", "refseq_name": "annexin A7 isoform 1", "refseq_ac": [ { "id": "NP_001147", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001147", "type": "external" } ], "gene_names_uniprotkb": "ANXA7; ANX7; SNX; SW-cl.95", "gene_names_refseq": "ANX7; ANXA7; SNX; SYNEXIN", "protein_names_uniprotkb": "Annexin A7; Annexin VII; Annexin-7; Synexin", "protein_names_refseq": "annexin A7 isoform 1; annexin VII; annexin-7", "tax_id": 9606, "disease": "non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); amyotrophic lateral sclerosis type 23 (Disease Ontology:DOID:0080225); prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); colon adenocarcinoma (Disease Ontology:DOID:234); ovarian cancer (Disease Ontology:DOID:2394); skin cancer (Disease Ontology:DOID:4159)", "pathway": " (hsa:310)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "11237011;17697703;1825209;18256029;19608861;20068231;21209280;21872626;21993680;23481700;24126823;24714562;24715725;2542947;25502872;25505266;25576301;25880248;25892735;26154972;26375851;26728094;26853435;26918348;26992070;27397612;27846572;27862975;28467828;28832583;28904123;29242379;29393594;29493099;29557506;30397120;30429286;30484775;31040365;31217245;31446642;31611695;31844290;31958076;32119511;32157095;32265295;32350084;32387766;32488085;32502341;32526706;32938616;32983136;33043033;33091337;33123756;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34078123;34171305;34211107;34229054;34357683;34509645;34716295;34725712;34932366;35051231;35154160;35318648;35580925;36215666;36284347;36581221;37217939;37938771;38665916;40914422;7515686", "class_list": "glycogene", "function": "ANXA7 promotes the cell cycle, proliferation and cell adhesion-mediated drug resistance of multiple myeloma cells by up-regulating CDC5L., [RefSeq, PubMed]; ANXA7 regulates trophoblast proliferation and apoptosis in preeclampsia., [RefSeq, PubMed]; Annexin A7 is required for ESCRT III-mediated plasma membrane repair. Publication Status: Online-Only, [RefSeq, PubMed]; Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]., [RefSeq]; AnnexinA7 promotes epithelial-mesenchymal transition by interacting with Sorcin and contributes to aggressiveness in hepatocellular carcinoma. Erratum:[Cell Death Dis. 2024 Nov 29;15(11):866. doi: 10.1038/s41419-024-07184-6. PMID: 39614081] Publication Status: Online-Only, [RefSeq, PubMed]; Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis., [UniProtKB]; Knockdown of annexin VII enhances nasopharyngeal carcinoma cell radiosensitivity in vivo and in vitro., [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 146, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5F2H3;Q5T0M6;Q5T0M7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005178 integrin binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0010629 negative regulation of gene expression;GO:0030855 epithelial cell differentiation;GO:0051592 response to calcium ion;GO:0006914 autophagy;GO:0061025 membrane fusion", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "P20073-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12429-1", "uniprot_id": [ { "id": "ANXA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P12429", "type": "external" } ], "mass": 36375.0, "length": 323, "protein_name": "Annexin A3", "gene_name": "ANXA3", "organism": "Human", "refseq_name": "annexin A3", "refseq_ac": [ { "id": "NP_005130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005130", "type": "external" } ], "gene_names_uniprotkb": "ANXA3; ANX3", "gene_names_refseq": "ANX3; ANXA3", "protein_names_uniprotkb": "Annexin A3; 35-alpha calcimedin; Annexin III; Annexin-3; Inositol 1,2-cyclic phosphate 2-phosphohydrolase; Lipocortin III; PAP-III; Placental anticoagulant protein III", "protein_names_refseq": "35-alpha calcimedin; Annexin III (lipocortin III); PAP-III; annexin A3; annexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha); annexin-3; calcimedin 35-alpha; inositol 1,2-cyclic phosphate 2-phosphohydrolase", "tax_id": 9606, "disease": "glaucoma (Disease Ontology:DOID:1686)", "pathway": " (hsa:306); (R-HSA-9925563)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10391209;11237011;12665801;16112985;18222597;1830024;2138632;2159184;25502872;29557506;2968983;2975506;30379171;30429286;30484775;31844290;32157095;33968037;33981976;34019948;34171305;35051231;35464477;35580925;36284347;37843781;38102696;38393971;38636657;40930100;8276419;8639653", "class_list": "", "function": "ANXA3, associated with YAP1 regulation, participates in the proliferation and chemoresistance of cervical cancer cells., [RefSeq, PubMed]; ANXA3-Rich Exosomes Derived from Tumor-Associated Macrophages Regulate Ferroptosis and Lymphatic Metastasis of Laryngeal Squamous Cell Carcinoma., [RefSeq, PubMed]; Identification of ANXA3 as a biomarker associated with pyroptosis in ischemic stroke. Erratum:[Eur J Med Res. 2024 Feb 7;29(1):105. doi: 10.1186/s40001-024-01693-y. PMID: 38326912] Publication Status: Online-Only, [RefSeq, PubMed]; Inhibitor of phospholipase A2, also possesses anti-coagulant properties. Also cleaves the cyclic bond of inositol 1,2-cyclic phosphate to form inositol 1-phosphate., [UniProtKB]; Proximity labeling of host factor ANXA3 in HCV infection reveals a novel LARP1 function in viral entry., [RefSeq, PubMed]; This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulated of ANXA3, SORL1, and Neutrophils May Be Key Factors in the Progressionof Ankylosing Spondylitis. 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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9W6;Q6LET2", "ec_number_list": [], "go_molecular_function": "GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0019834 phospholipase A2 inhibitor activity;GO:0001786 phosphatidylserine binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0043312 neutrophil degranulation;GO:0006909 phagocytosis;GO:0010595 positive regulation of endothelial cell migration;GO:0045766 positive regulation of angiogenesis;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "P12429-1", "record_type": "protein", "filter_code": "0001000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75197-1", "uniprot_id": [ { "id": "LRP5_HUMAN", "url": "https://www.uniprot.org/uniprot/O75197", "type": "external" } ], "mass": 179145.0, "length": 1615, "protein_name": "Low-density lipoprotein receptor-related protein 5", "gene_name": "LRP5", "organism": "Human", "refseq_name": "low-density lipoprotein receptor-related protein 5 isoform 2", "refseq_ac": [ { "id": "NP_001278831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831", "type": "external" } ], "gene_names_uniprotkb": "LRP5; LR3; LRP7", "gene_names_refseq": "BMND1; EVR1; EVR4; HBM; LR3; LRP-5; LRP-7; LRP5; LRP7; OPPG; OPS; OPTA1; PCLD4; VBCH2", "protein_names_uniprotkb": "Low-density lipoprotein receptor-related protein 5; LRP-5; LRP-7; Low-density lipoprotein receptor-related protein 7", "protein_names_refseq": "low density lipoprotein receptor-related protein 5; low density lipoprotein receptor-related protein 7; low-density lipoprotein receptor-related protein 5 isoform 2", "tax_id": 9606, "disease": "exudative vitreoretinopathy (Disease Ontology:DOID:0050535); nonsyndromic deafness (Disease Ontology:DOID:0050563); osteoporosis-pseudoglioma syndrome (Disease Ontology:DOID:0060849); polycystic liver disease 4 (Disease Ontology:DOID:0060977); polycystic liver disease 1 (Disease Ontology:DOID:0060980); Worth syndrome (Disease Ontology:DOID:0080037); autosomal dominant osteopetrosis 1 (Disease Ontology:DOID:0110937); exudative vitreoretinopathy 4 (Disease Ontology:DOID:0111411); exudative vitreoretinopathy 1 (Disease Ontology:DOID:0111412); osteonecrosis (Disease Ontology:DOID:10159); microphthalmia (Disease Ontology:DOID:10629); osteoporosis (Disease Ontology:DOID:11476); idiopathic juvenile osteoporosis (Disease Ontology:DOID:12559); osteopetrosis (Disease Ontology:DOID:13533); heart valve disease (Disease Ontology:DOID:4079); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); tendinitis (Disease Ontology:DOID:971); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719); obsolete bone mineral density quantitative trait locus 1 (MONDO:MONDO:0044271)", "pathway": " (hsa:4041); (R-HSA-201681); (R-HSA-3772470); (R-HSA-4641262); (R-HSA-4641263); (R-HSA-5339717); (R-HSA-5340588)", "pathway_count": 7, "publication_count": 214, "publication_id_list": "10.1101/2023.09.13.557529;10198061;10201374;10347172;10421629;10428961;10481074;10581160;10684251;10698523;11029007;11137016;11237011;11336703;11357136;11401438;11433302;11448771;11493532;11707456;11719191;11738041;11741193;11742004;11861647;12015390;12050670;12167704;12205098;12223464;12509515;12527209;12554650;12579474;12775774;12897152;14636582;14727154;14731402;14981260;15024691;15073180;15077203;15084453;15143163;15208637;15256437;15346351;15454084;15459103;15492824;15681612;15778503;15824851;15824861;15908424;15981244;16082208;16109882;16116452;16172602;16234968;16252235;16280981;16341016;16341017;16357527;16427602;16513652;16554443;16679074;16723543;16890161;16929062;16971168;17047023;17086209;17143291;17143292;17234765;17295608;17318175;17320548;17400545;17437160;17462603;17488095;17529994;17569865;17804805;18044981;18077588;18322270;18339531;18362152;18423204;18502762;18602879;18606139;18762581;19000841;19061640;19107203;19158955;19174556;19177549;19208630;19307728;19324841;19619488;19746449;19755491;19802005;20004982;20053636;20093360;20340138;20393562;20495530;21183070;21183076;21252990;21383061;21693646;21727895;21743455;21875946;21909076;21944579;21984209;22000855;22000856;22014570;22411803;22575959;22653731;22773843;22895187;22951645;22986341;23074275;23090970;23256519;23481700;23791946;23847203;24190977;24706814;24715725;24715757;25502872;25576301;25920554;26992070;27228167;28192794;28218747;28375157;28467828;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29557506;29741879;29769354;30315122;30429286;30484775;31020640;31844290;31848261;32157095;32350084;32387766;32502341;32938616;32983136;33141586;33392160;33592498;33968037;33981976;34078123;34171305;34357683;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;38030997;38253038;38302983;38625381;38720524;38802968;39302247;9034327;9135132;9391096;9482734;9501980;9635432;9714764;9790987", "class_list": "", "function": "Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:11719191, PubMed:15778503, PubMed:15908424, PubMed:16252235). Activates the canonical Wnt signaling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration (PubMed:11336703, PubMed:11719191). In particular, may play an important role in the development of the posterior patterning of the epiblast during gastrulation (By similarity). During bone development, regulates osteoblast proliferation and differentiation thus determining bone mass (PubMed:11719191). Mechanistically, the formation of the signaling complex between Wnt ligand, frizzled receptor and LRP5 coreceptor promotes the recruitment of AXIN1 to LRP5, stabilizing beta-catenin/CTNNB1 and activating TCF/LEF-mediated transcriptional programs (PubMed:11336703, PubMed:14731402, PubMed:24706814, PubMed:25920554). Acts as a coreceptor for non-Wnt proteins, such as norrin/NDP. Binding of norrin/NDP to frizzled 4/FZD4-LRP5 receptor complex triggers beta-catenin/CTNNB1-dependent signaling known to be required for retinal vascular development (PubMed:16252235, PubMed:27228167). Plays a role in controlling postnatal vascular regression in retina via macrophage-induced endothelial cell apoptosis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass., [RefSeq, PubMed]; Evolutionary and functional analyses of LRP5 in archaic and extant modern humans. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Relationship between polymorphisms and mutations at rs7125942 and rs3736228 of LRP5 gene and bone metabolism in postmenopausal women. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]; Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 77, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 19, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q96TD6;Q9UES7;Q9UP66", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity;GO:0017147 Wnt-protein binding;GO:0042813 Wnt receptor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:1990909 Wnt signalosome;GO:1990851 Wnt-Frizzled-LRP5/6 complex", "go_biological_process": "GO:0060042 retina morphogenesis in camera-type eye;GO:0006897 endocytosis;GO:0007399 nervous system development;GO:0008284 positive regulation of cell population proliferation;GO:0045600 positive regulation of fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 22.3, "record_id": "O75197-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5PSV4-1", "uniprot_id": [ { "id": "BRM1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5PSV4", "type": "external" } ], "mass": 37629.0, "length": 323, "protein_name": "Breast cancer metastasis-suppressor 1-like protein", "gene_name": "BRMS1L", "organism": "Human", "refseq_name": "breast cancer metastasis-suppressor 1-like protein", "refseq_ac": [ { "id": "NP_115728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115728", "type": "external" } ], "gene_names_uniprotkb": "BRMS1L", "gene_names_refseq": "BRMS1L; BRMS1; p40", "protein_names_uniprotkb": "Breast cancer metastasis-suppressor 1-like protein; BRMS1-homolog protein p40; BRMS1-like protein p40", "protein_names_refseq": "BRMS1-homolog protein p40; BRMS1-like protein p40; breast cancer metastasis-suppressor 1 like; breast cancer metastasis-suppressor 1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84312)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;15451426;20068231;23186163;25114211;25576301;25645385;25755297;25772364;26154972;27846572;27920218;28411811;28832583;28834231;29242379;29508533;29557506;29660900;30118697;30779550;31844290;31848261;32157095;32502341;32983136;33141586;33298915;33691108;33981976;34019948;34087483;34211107;35051231;35580925;37217939", "class_list": "", "function": "BRMS1L suppresses ovarian cancer metastasis via inhibition of the beta-catenin-WNT pathway., [RefSeq, PubMed]; Involved in the histone deacetylase (HDAC1)-dependent transcriptional repression activity. When overexpressed in lung cancer cell line that lacks p53/TP53 expression, inhibits cell growth., [UniProtKB, PubMed]; Low levels of BRMS1L is associated with glioma progression and plays as an independent poor prognosis biomarker. The up-regulation of BRMS1L suppresses glioma cells' invasion. All of those indicate that BRMS1L is a novel prognostic biomarker with potential anti-invasion therapeutic implications in GBM., [RefSeq, PubMed]; The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [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, "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": 1, "reported_mutagensis": 0, "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": "A6NFW5;A6NH45;B2RD65;Q9BRI4", "ec_number_list": [], "go_molecular_function": "GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070822 Sin3-type complex", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:1902455 negative regulation of stem cell population maintenance;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q5PSV4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04746-1", "uniprot_id": [ { "id": "AMYP_HUMAN", "url": "https://www.uniprot.org/uniprot/P04746", "type": "external" } ], "mass": 57707.0, "length": 511, "protein_name": "Pancreatic alpha-amylase", "gene_name": "AMY2A", "organism": "Human", "refseq_name": "pancreatic alpha-amylase precursor", "refseq_ac": [ { "id": "NP_000690", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000690", "type": "external" } ], "gene_names_uniprotkb": "AMY2A", "gene_names_refseq": "AMY2A; AMY2; PA", "protein_names_uniprotkb": "Pancreatic alpha-amylase; 1,4-alpha-D-glucan glucanohydrolase; 3.2.1.1; PA", "protein_names_refseq": "1,4-alpha-D-glucan glucanohydrolase; amylase alpha 2A (pancreatic); glycogenase; pancreatic alpha-amylase precursor; pancreatic alpha-amylase; pancreatic amylase alpha 2A", "tax_id": 9606, "disease": "", "pathway": " (hsa:279); (R-HSA-189085); (R-HSA-9925561)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "10091666;10769135;11085997;11237011;11772019;11914097;12547908;12692040;14616060;15299664;16584180;1697585;18824549;19241384;19435888;19955176;20356844;2450054;2452973;24715725;26495778;27066537;28659346;29557506;3227291;32314532;3260028;32718219;37938771;3800897;38665916;3897250;39232174;4737205;5104075;6336237;6466686;6610603;7487100;7836450;7906143;807575;8193143;8528071;8951031;9427547;9446624", "class_list": "glycogene;glycosylhydrolase", "function": "Association of AMY1A/AMY2A copy numbers and AMY1/AMY2 serum enzymatic activity with obesity in Mexican children., [RefSeq, PubMed]; Data show that serum amylase was found to be correlated with waist circumference, ghrelin and PYY3-36. Erratum:[Pancreas. 2016 May-Jun;45(5):e22. doi: 10.1097/MPA.0000000000000665. PMID: 27077721], [RefSeq, PubMed]; In silico assessment of potential leads identified from Bauhinia rufescens Lam. as alpha-glucosidase and alpha-amylase inhibitors., [RefSeq, PubMed]; It was concluded that the genetic variant determining starch metabolism influences the response to weight-loss dietary intervention. Overweight and obese individuals carrying the AMY1-AMY2 rs11185098 genotype associated with higher amylase activity may have greater loss of adiposity during low-calorie diet interventions., [RefSeq, PubMed]; Recurrent evolution and selection shape structural diversity at the amylase locus., [RefSeq, PubMed]; This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015]., [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": 1, "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": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 683, "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": "B9EJG1;Q9UBH3", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.1", "type": "external" }, { "id": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.21.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.71", "type": "external" }, { "id": "3.4.21.70", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.70", "type": "external" }, { "id": "3.4.17.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.1", "type": "external" }, { "id": "3.4.17.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.2", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.4.17.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.15", "type": "external" }, { "id": "3.1.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.26", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "2.1.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.20", "type": "external" }, { "id": "3.4.21.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.2", "type": "external" } ], "go_molecular_function": "GO:0031404 chloride ion binding;GO:0005509 calcium ion binding;GO:0004556 alpha-amylase activity;GO:0043169 cation binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0016052 carbohydrate catabolic process;GO:0044245 polysaccharide digestion", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P04746-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52272-1", "uniprot_id": [ { "id": "HNRPM_HUMAN", "url": "https://www.uniprot.org/uniprot/P52272", "type": "external" } ], "mass": 77516.0, "length": 730, "protein_name": "Heterogeneous nuclear ribonucleoprotein M", "gene_name": "HNRNPM", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein M isoform a", "refseq_ac": [ { "id": "NP_005959", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005959", "type": "external" } ], "gene_names_uniprotkb": "HNRNPM; HNRPM; NAGR1", "gene_names_refseq": "CEAR; HNRNPM4; HNRNPM; HNRPM4; HNRPM; HTGR1; NAGR1; hnRNP M", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein M; hnRNP M", "protein_names_refseq": "CEA receptor; N-acetylglucosamine receptor 1; heterogeneous nuclear ribonucleoprotein M isoform a; heterogenous nuclear ribonucleoprotein M4; hnRNA-binding protein M4", "tax_id": 9606, "disease": "colorectal carcinoma (Disease Ontology:DOID:0080199); leiomyoma (Disease Ontology:DOID:127)", "pathway": " (hsa:4670); (R-HSA-6803529); (R-HSA-72163); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 6, "publication_count": 285, "publication_id_list": "10513815;10669729;10882114;10938105;10982855;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12042320;12176931;12393912;12411573;12414731;12477934;14519844;14625303;14654843;14713954;14749727;14762106;15004565;15037765;15084397;15104674;15345747;15561718;15565158;15601847;16314458;16410617;16449636;16603716;16809785;17074750;17081983;17095540;17128255;17332742;17606899;17959601;18212344;18288197;18322460;18573884;18593880;18669648;18691976;19007248;1906035;19103666;19165350;19217410;19285943;19536130;19608861;19651622;19664995;19690332;19691289;20068231;20166139;20423332;20695905;20980672;21295486;21406692;21536652;2176635;21911577;22110043;22121020;22223895;22365833;22424782;22544926;22645359;22706990;22813749;22959432;22961380;22967762;23186163;23222130;23236153;23345524;23481700;23783831;23874216;24076191;24129315;24149845;24196718;24275569;24304693;24316715;24366607;24397554;24407421;24448447;24714562;24715725;24737827;24914973;24981863;25114211;25218447;25301780;25301781;25418920;25469497;25555158;2558966;25645385;25678563;25755297;25772364;25810538;25892735;26092250;26154972;26375851;26385511;26420826;26758079;26811146;26853435;26929215;26969736;26992070;27108190;27377154;27397612;27459055;27543614;27600516;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28510447;28649982;28781166;28832583;28834231;28860189;28904123;28911096;29186539;29242379;29274231;29301961;29331515;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29789417;29902443;30139799;30257008;30315122;30315277;30379171;30397120;30410026;30444036;30484775;30524438;30599162;30705154;30728453;30765414;30975767;31217245;31409651;31611695;31844290;32119511;32157095;32179686;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32522876;32816001;32870666;32897882;32938616;32983136;33091337;33123756;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34301950;34405274;34433824;34509645;34561969;34725712;34822310;34932366;35051231;35083852;35154160;35158098;35177536;35215846;35251023;35318648;35385551;35580925;36010968;36215666;36241641;36284347;37217939;3757028;37938771;38016815;38665916;38815579;39034402;39302247;39990658;40136647;8352591;8441656;8566756;8608946;8692693;9016565;9045906;9242493;9271388;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9858549", "class_list": "", "function": "HnRNPM protects against the dsRNA-mediated interferon response by repressing LINE-associated cryptic splicing., [RefSeq, PubMed]; Knockdown of HNRNPM inhibits the progression of glioma through inducing ferroptosis., [RefSeq, PubMed]; PARP4 interacts with hnRNPM to regulate splicing during lung cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Pre-mRNA binding protein in vivo, binds avidly to poly(G) and poly(U) RNA homopolymers in vitro. Involved in splicing. Acts as a receptor for carcinoembryonic antigen in Kupffer cells, may initiate a series of signaling events leading to tyrosine phosphorylation of proteins and induction of IL-1 alpha, IL-6, IL-10 and tumor necrosis factor alpha cytokines., [UniProtKB]; Targeting HNRNPM Inhibits Cancer Stemness and Enhances Antitumor Immunity in Wnt-activated Hepatocellular Carcinoma., [RefSeq, PubMed]; This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs. This protein also constitutes a monomer of the N-acetylglucosamine-specific receptor which is postulated to trigger selective recycling of immature GlcNAc-bearing thyroglobulin molecules. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q15584;Q8WZ44;Q96H56;Q9BWL9;Q9Y492", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019904 protein domain specific binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0000380 alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 28.9, "record_id": "P52272-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75971-1", "uniprot_id": [ { "id": "SNPC5_HUMAN", "url": "https://www.uniprot.org/uniprot/O75971", "type": "external" } ], "mass": 11328.0, "length": 98, "protein_name": "snRNA-activating protein complex subunit 5", "gene_name": "SNAPC5", "organism": "Human", "refseq_name": "snRNA-activating protein complex subunit 5 isoform 2", "refseq_ac": [ { "id": "NP_001316542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316542", "type": "external" } ], "gene_names_uniprotkb": "SNAPC5; SNAP19", "gene_names_refseq": "SNAP19; SNAPC5", "protein_names_uniprotkb": "snRNA-activating protein complex subunit 5; SNAPc 19 kDa subunit; SNAPc subunit 5; Small nuclear RNA-activating complex polypeptide 5; snRNA-activating protein complex 19 kDa subunit", "protein_names_refseq": "SNAPc 19 kDa subunit; SNAPc subunit 5; snRNA-activating protein complex 19 kDa subunit; snRNA-activating protein complex subunit 5 isoform 2; snRNA-activating protein complex subunit 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:10302); (R-HSA-6807505); (R-HSA-749476); (R-HSA-76071)", "pathway_count": 4, "publication_count": 57, "publication_id_list": "10022900;10421633;11056176;11237011;11463379;11856838;12414730;12574128;14701755;1535687;16239144;16308568;16901896;17081983;1739980;18079403;1829677;18669648;19667075;20068231;20457598;2125285;22137580;22231121;22252320;22441827;23166507;23932780;24097444;24270878;24997600;25675981;27655637;28904123;2944599;29557506;30315122;31844290;32157095;32938616;32983136;7715707;7891697;8253082;8339931;8628262;8668525;9003788;9009278;9153304;9188510;9234698;9407024;9418884;9705341;9732265;9832505", "class_list": "", "function": "Kaplan-Meir analysis of GSE7696 indicate that COL3A1 and SNAP91 correlated with survival., [RefSeq, PubMed]; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box., [UniProtKB]; This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transcribed by either RNA polymerase II or III and recruits other regulatory factors to activate snRNA gene transcription. The encoded protein may play a role in stabilizing this complex. A pseudogene of this gene has been identified on chromosome 6. [provided by RefSeq, Jul 2016]., [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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "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": "A8K7N6;Q96CF3", "ec_number_list": [], "go_molecular_function": "GO:0016251 RNA polymerase II general transcription initiation factor activity;GO:0000995 RNA polymerase III general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006384 transcription initiation at RNA polymerase III promoter;GO:0042795 snRNA transcription by RNA polymerase II;GO:0042796 snRNA transcription by RNA polymerase III;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O75971-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17028-1", "uniprot_id": [ { "id": "ZNF24_HUMAN", "url": "https://www.uniprot.org/uniprot/P17028", "type": "external" } ], "mass": 42155.0, "length": 368, "protein_name": "Zinc finger protein 24", "gene_name": "ZNF24", "organism": "Human", "refseq_name": "zinc finger protein 24 isoform 2", "refseq_ac": [ { "id": "NP_001295052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295052", "type": "external" } ], "gene_names_uniprotkb": "ZNF24; KOX17; ZNF191; ZSCAN3", "gene_names_refseq": "KOX17; RSG-A; ZNF191; ZNF24; ZSCAN3; Zfp191", "protein_names_uniprotkb": "Zinc finger protein 24; RSG-A; Retinoic acid suppression protein A; Zinc finger and SCAN domain-containing protein 3; Zinc finger protein 191; Zinc finger protein KOX17", "protein_names_refseq": "retinoic acid suppression protein A; zinc finger and SCAN domain-containing protein 3; zinc finger protein 191; zinc finger protein 24 (KOX 17); zinc finger protein 24 isoform 2; zinc finger protein KOX17", "tax_id": 9606, "disease": "", "pathway": " (hsa:7572)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "10585455;11237011;15561718;15592455;17525332;18669648;20068231;2288909;23186163;23481700;24224020;25114211;25218447;25576301;25645385;25755297;25772364;25802875;26154972;26992070;27846572;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30410026;30429286;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32938616;33141586;33197287;33298915;33392160;33968037;34171305;34185709;34932366;35051231;35092191;35580925;36010968;37774763;37938771", "class_list": "", "function": "Transcription factor required for myelination of differentiated oligodendrocytes. Required for the conversion of oligodendrocytes from the premyelinating to the myelinating state. In the developing central nervous system (CNS), involved in the maintenance in the progenitor stage by promoting the cell cycle. Specifically binds to the 5'-TCAT-3' DNA sequence (By similarity). Has transcription repressor activity in vitro., [UniProtKB, PubMed]; Tumor-suppressive zinc finger protein 24 (ZNF24) sensitizes colorectal cancer cells to 5-fluorouracil by inhibiting the Wnt pathway and activating the p53 signaling., [RefSeq, PubMed]; Wnt8B, transcriptionally regulated by ZNF191, promotes cell proliferation of hepatocellular carcinoma via Wnt signaling., [RefSeq, PubMed]; ZNF191 alters DNA methylation and activates the PI3K-AKT pathway in hepatoma cells via transcriptional regulation of DNMT1., [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": 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": 8, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "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": "O14754;Q53YE4;Q6ICR5;Q8IZN4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;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:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "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:0042552 myelination;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P17028-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q69YU3-1", "uniprot_id": [ { "id": "AN34A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q69YU3", "type": "external" } ], "mass": 52636.0, "length": 496, "protein_name": "Ankyrin repeat domain-containing protein 34A", "gene_name": "ANKRD34A", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 34A", "refseq_ac": [ { "id": "NP_001034977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034977", "type": "external" } ], "gene_names_uniprotkb": "ANKRD34A; ANKRD34", "gene_names_refseq": "ANKRD34A; ANKRD34", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 34A", "protein_names_refseq": "ankyrin repeat domain 34; ankyrin repeat domain-containing protein 34A", "tax_id": 9606, "disease": "", "pathway": " (hsa:284615)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;26797129;26992070;30429286;32387766;32938616;33298915;34932366;35051231;35580925", "class_list": "", "function": "", "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": 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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KSU3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0071546 pi-body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q69YU3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01160-1", "uniprot_id": [ { "id": "ANF_HUMAN", "url": "https://www.uniprot.org/uniprot/P01160", "type": "external" } ], "mass": 16396.0, "length": 151, "protein_name": "Natriuretic peptides A", "gene_name": "NPPA", "organism": "Human", "refseq_name": "natriuretic peptides A preproprotein", "refseq_ac": [ { "id": "NP_006163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006163", "type": "external" } ], "gene_names_uniprotkb": "NPPA; ANP; PND", "gene_names_refseq": "ANF; ANP; ATFB6; ATRST2; CDD-ANF; CDD; CDP; NPPA; PND", "protein_names_uniprotkb": "Natriuretic peptides A; ANF 1-33; ANF 3-33; ANF 8-33; ANF; Alpha-atrial natriuretic peptide; Alpha-hANP; Atrial natriuretic factor 1-33; Atrial natriuretic factor 3-33; Atrial natriuretic factor 8-33; Atrial natriuretic factor prohormone; Atrial natriuretic factor; Atrial natriuretic peptide prohormone; Atriopeptigen; Atriopeptin III; Atriopeptin II; Atriopeptin I; CDD 95-126; CDD-ANF; CDD-ANP (95-126); CDD-ANP (99-126); CDD; Cardiodilatin; Cardionatrin; LANH; Long-acting natriuretic hormone; Pro atrial natriuretic factor 1-30; Pro atrial natriuretic factor 31-67; Pro atrial natriuretic factor 79-98; Pro atrial natriuretic factor 99-126; Pro atrial natriuretic peptide 1-30; Pro atrial natriuretic peptide 31-67; Pro atrial natriuretic peptide 79-98; Pro atrial natriuretic peptide 95-126; preproANP; preproCDD-ANF; proANF 1-30; proANF 31-67; proANF 79-98; proANF 99-126; proANF; proANP 1-30; proANP 31-67; proANP 79-98; proANP 95-126; proANP", "protein_names_refseq": "atrial natriuretic factor prohormone; atrial natriuretic peptide prohormone; atriopeptigen; atriopeptin; cardiodilatin-related peptide; cardionatrin; natriuretic peptide precursor A; natriuretic peptides A preproprotein; preproANP; preproCDD-ANF; prepronatriodilatin; proANF; proANP", "tax_id": 9606, "disease": "familial atrial fibrillation (Disease Ontology:DOID:0050650); stroke (Disease Ontology:DOID:0051061); intrinsic cardiomyopathy (Disease Ontology:DOID:0060036); atrial standstill 2 (Disease Ontology:DOID:0080663); renal hypertension (Disease Ontology:DOID:1073); hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); brain ischemia (Disease Ontology:DOID:2316); nephrosis (Disease Ontology:DOID:2527); glomerulonephritis (Disease Ontology:DOID:2921); acute kidney failure (Disease Ontology:DOID:3021); coronary artery disease (Disease Ontology:DOID:3393); ureteral obstruction (Disease Ontology:DOID:5199); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); chronic kidney disease (Disease Ontology:DOID:784); peritonitis (Disease Ontology:DOID:8283); diabetic retinopathy (Disease Ontology:DOID:8947); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:4878); (R-HSA-2032785); (R-HSA-5578768); (R-HSA-977225)", "pathway_count": 4, "publication_count": 140, "publication_id_list": "10097139;10319874;10391242;10411933;10583407;10587520;10880574;10956649;11145122;11237011;11278841;11401442;11467836;11590439;118839;12454989;1270801;14506261;14559895;14567678;15064394;15146390;15741263;15962837;16174740;16254193;16332960;1660465;1672777;16799559;16870210;16875975;17425515;17660514;18065497;18070888;1826098;1837051;18449172;18484335;1849145;18579750;18614783;18835931;19011241;19324876;19324877;19658395;19828817;19934029;20110263;20676056;20807650;21098034;2118650;2144260;2162527;21672517;2195544;22065755;22131221;22291141;22307324;23275345;23813966;2409350;24833601;24893886;25202235;2528951;2532366;25401746;25523424;26018760;26417681;26668317;26686862;26807092;26817948;26990595;279930;28228285;2825692;2900981;29557506;2972276;2972874;29789417;3035556;30459171;30534047;3053705;3080684;3094007;3142462;3158606;32305557;32506827;32596365;36336901;3675579;37099206;37417873;37913506;3838202;39894887;6095118;6095119;6097248;6203042;6230082;6238331;6542248;6547996;7595132;7720651;7831500;7955907;7984506;8033412;8043577;8087923;8097946;8114934;8159701;8351194;8384600;8464497;8490014;8653797;8779891;8853410;8870004;9006323;9054935;9584153;9651244;9794555;9862427;9893117", "class_list": "", "function": "Atrial natriuretic peptide stimulates autophagy/mitophagy and improves mitochondrial function in chronic heart failure. Publication Status: Online-Only, [RefSeq, PubMed]; Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis., [RefSeq, PubMed]; Hormone produced in the kidneys that appears to be important for maintaining cardio-renal homeostasis (PubMed:8351194, PubMed:8779891, PubMed:8853410). Mediates vasodilation, natriuresis and diuresis primarily in the renal system, in order to maintain the extracellular fluid volume and control the fluid-electrolyte balance (PubMed:2528951, PubMed:8351194, PubMed:8779891, PubMed:8853410). Specifically binds and stimulates cGMP production by renal transmembrane receptors, likely NPR1 (PubMed:8384600, PubMed:9893117). Urodilatin not ANP, may be the natriuretic peptide responsible for the regulation of sodium and water homeostasis in the kidney (PubMed:8384600, PubMed:8779891)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Hormone that plays a key role in mediating cardio-renal homeostasis, and is involved in vascular remodeling and regulating energy metabolism (PubMed:15741263, PubMed:16875975, PubMed:18835931, PubMed:21672517, PubMed:22307324, PubMed:2532366, PubMed:2825692, PubMed:7595132, PubMed:7720651, PubMed:8087923, PubMed:8653797). Acts by specifically binding and stimulating NPR1 to produce cGMP, which in turn activates effector proteins, such as PRKG1, that drive various biological responses (PubMed:1660465, PubMed:1672777, PubMed:21098034, PubMed:2162527, PubMed:22307324, PubMed:2825692, PubMed:7720651, PubMed:8384600, PubMed:9893117). Regulates vasodilation, natriuresis, diuresis and aldosterone synthesis and is therefore essential for regulating blood pressure, controlling the extracellular fluid volume and maintaining the fluid-electrolyte balance (PubMed:2532366, PubMed:2825692, PubMed:7595132, PubMed:7720651, PubMed:8087923, PubMed:8653797). Also involved in inhibiting cardiac remodeling and cardiac hypertrophy by inducing cardiomyocyte apoptosis and attenuating the growth of cardiomyocytes and fibroblasts (PubMed:16875975). Plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus, and thus prevents pregnancy-induced hypertension (By similarity). In adipose tissue, acts in various cGMP- and PKG-dependent pathways to regulate lipid metabolism and energy homeostasis (PubMed:15741263, PubMed:18835931, PubMed:21672517, PubMed:22307324). This includes up-regulating lipid metabolism and mitochondrial oxygen utilization by activating the AMP-activated protein kinase (AMPK), and increasing energy expenditure by acting via MAPK11 to promote the UCP1-dependent thermogenesis of brown adipose tissue (PubMed:15741263, PubMed:18835931, PubMed:21672517, PubMed:22307324). Binds the clearance receptor NPR3 which removes the hormone from circulation (PubMed:1672777)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; May have a role in cardio-renal homeostasis through regulation of diuresis and inhibiting aldosterone synthesis (PubMed:2825692, PubMed:7595132, PubMed:8087923). In vitro, promotes the production of cGMP and induces vasodilation (PubMed:2825692). May promote natriuresis, at least in part, by enhancing prostaglandin E2 synthesis resulting in the inhibition of renal Na+-K+-ATPase (PubMed:7595132, PubMed:7720651). May have a role in potassium excretion but not sodium excretion (natriuresis) (PubMed:8087923). Possibly enhances protein excretion in urine by decreasing proximal tubular protein reabsorption (PubMed:11145122)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; May have a role in cardio-renal homeostasis through regulation of natriuresis and vasodilation. In vivo promotes natriuresis. In vitro, selectively vasodilates intestinal and vascular smooth muscle strips., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; May have a role in cardio-renal homeostasis through regulation of natriuresis, diuresis, and vasodilation (PubMed:2532366, PubMed:7595132, PubMed:7955907, PubMed:8087923, PubMed:8653797). In vitro, promotes the production of cGMP and induces vasodilation (PubMed:2825692). May promote natriuresis, at least in part, by enhancing prostaglandin E2 synthesis resulting in the inhibition of renal Na+-K+-ATPase (PubMed:7595132, PubMed:7720651). However reports on the involvement of this peptide in mammal blood volume and blood pressure homeostasis are conflicting; according to a report it is not sufficient to activate cGMP and does not inhibit collecting duct transport nor effect diuresis and natriuresis (PubMed:7831500). Appears to bind to specific receptors that are distinct from the receptors bound by the atrial natriuretic and long-acting natriuretic peptides (PubMed:2162527, PubMed:2825692). Possibly functions in protein excretion in urine by maintaining the integrity of the proximal tubules and enhancing protein excretion by decreasing proximal tubular protein reabsorption (PubMed:11145122)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; May have a role in cardio-renal homeostasis through regulation of natriuresis, diuresis, vasodilation, and inhibiting aldosterone synthesis (PubMed:2532366, PubMed:2825692, PubMed:7595132, PubMed:7955907, PubMed:8087923, PubMed:8653797). In vitro, promotes the production of cGMP and induces vasodilation (PubMed:2825692). May promote natriuresis, at least in part, by enhancing prostaglandin E2 synthesis resulting in the inhibition of renal Na+-K+-ATPase (PubMed:7720651). However reports on the involvement of this peptide in mammal blood volume and blood pressure homeostasis are conflicting; according to a report, in vivo it is not sufficient to activate cGMP and does not inhibit collecting duct transport nor effect diuresis and natriuresis (By similarity). Appears to bind to specific receptors that are distinct from the receptors bound by atrial natriuretic peptide and vessel dilator (PubMed:2162527, PubMed:2825692). Possibly enhances protein excretion in urine by decreasing proximal tubular protein reabsorption (PubMed:11145122)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; May have a role in cardio-renal homeostasis through regulation of regulation of natriuresis and vasodilation. In vivo promotes natriuresis. In vitro, vasodilates intestinal smooth muscle but not smooth muscle strips., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Regulatory role of atrial natriuretic peptide in brown adipose tissue: A narrative review. Review article, [RefSeq, PubMed]; Sex-based differences in metabolic protection by the ANP genetic variant rs5068 in the general population., [RefSeq, PubMed]; The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1. [provided by RefSeq, Oct 2015]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring", "glycan_count": 2, "disease_count": 22, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q13766;Q5JZE1", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005184 neuropeptide hormone activity;GO:0005179 hormone activity;GO:0051427 hormone receptor binding;GO:0071855 neuropeptide receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005903 brush border;GO:0043204 perikaryon", "go_biological_process": "GO:1904385 cellular response to angiotensin;GO:1904681 response to 3-methylcholanthrene;GO:0006182 cGMP biosynthetic process;GO:0007218 neuropeptide signaling pathway;GO:0071333 cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "P01160-1", "record_type": "protein", "filter_code": "0100000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7Z5-1", "uniprot_id": [ { "id": "ANR31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7Z5", "type": "external" } ], "mass": 210816.0, "length": 1873, "protein_name": "Ankyrin repeat domain-containing protein 31", "gene_name": "ANKRD31", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 31 isoform 2", "refseq_ac": [ { "id": "NP_001157915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157915", "type": "external" } ], "gene_names_uniprotkb": "ANKRD31", "gene_names_refseq": "ANKRD31", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 31", "protein_names_refseq": "ankyrin repeat domain-containing protein 31 isoform 2; ankyrin repeat domain-containing protein 31; putative ankyrin repeat domain-containing protein 31", "tax_id": 9606, "disease": "", "pathway": " (hsa:256006)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;23481700;27541642;29242379;29557506;30192525;30379171;31217245;31844290;33912179;33981976;34257419;35051231;35251023;35494241;37217939", "class_list": "", "function": "Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency., [RefSeq, PubMed]; Required for DNA double-strand breaks (DSBs) formation during meiotic recombination. Regulates the spatial and temporal patterns of pre-DSB recombinosome assembly and recombination activity by acting as a scaffold that anchors REC114 and other factors to specific genomic locations, thereby regulating DSB formation. Plays a key role in recombination in the pseudoautosomal regions of sex chromosomes., [UniProtKB, UniProtKB]; This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]., [RefSeq]; We determined that the other patients harbored mutations in genes that have not previously been linked to RTT or other neurodevelopmental syndromes, such as the ankyrin repeat containing protein ANKRD31 or the neuronal acetylcholine receptor subunit alpha-5 (CHRNA5)., [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": 1, "reported_mutagensis": 0, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0007129 homologous chromosome pairing at meiosis;GO:0010780 meiotic DNA double-strand break formation involved in reciprocal meiotic recombination;GO:1903343 positive regulation of meiotic DNA double-strand break formation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8N7Z5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IW19-1", "uniprot_id": [ { "id": "APLF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IW19", "type": "external" } ], "mass": 56956.0, "length": 511, "protein_name": "Aprataxin and PNK-like factor", "gene_name": "APLF", "organism": "Human", "refseq_name": "aprataxin and PNK-like factor", "refseq_ac": [ { "id": "NP_775816", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775816", "type": "external" } ], "gene_names_uniprotkb": "APLF; C2orf13; PALF; XIP1", "gene_names_refseq": "APFL; APLF; C2orf13; PALF; Xip1; ZCCHH1", "protein_names_uniprotkb": "Aprataxin and PNK-like factor; 3.1.-.-; Apurinic-apyrimidinic endonuclease APLF; PNK and APTX-like FHA domain-containing protein; XRCC1-interacting protein 1", "protein_names_refseq": "PNK and APTX-like FHA domain-containing protein; PNK and APTX-like FHA protein; XRCC1-interacting protein 1; aprataxin and PNK-like factor; aprataxin- and PNK-like factor; apurinic-apyrimidinic endonuclease APLF; zinc finger, CX5CX6HX5H motif containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:200558)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;17353262;17396150;17507382;18077224;18172500;18474613;20098424;20439749;21211721;21211722;23449221;23689425;25502872;27063109;29485866;29905837;30104678;30291363;31287003;31733588;31844290;33298915", "class_list": "", "function": "APLF is an ATM target that is involved in nonhomologous end-joining and facilitates double-strand break repair, likely via interactions with Ku and XRCC4-DNA ligase IV., [RefSeq, PubMed]; Histone chaperone involved in single-strand and double-strand DNA break repair (PubMed:17353262, PubMed:17396150, PubMed:21211721, PubMed:21211722, PubMed:29905837, PubMed:30104678). Recruited to sites of DNA damage through interaction with branched poly-ADP-ribose chains, a polymeric post-translational modification synthesized transiently at sites of chromosomal damage to accelerate DNA strand break repair reactions (PubMed:17353262, PubMed:17396150, PubMed:21211721, PubMed:30104678). Following recruitment to DNA damage sites, acts as a histone chaperone that mediates histone eviction during DNA repair and promotes recruitment of histone variant MACROH2A1 (PubMed:21211722, PubMed:29905837, PubMed:30104678). Also has a nuclease activity: displays apurinic-apyrimidinic (AP) endonuclease and 3'-5' exonuclease activities in vitro (PubMed:17353262, PubMed:17396150). Also able to introduce nicks at hydroxyuracil and other types of pyrimidine base damage (PubMed:17353262, PubMed:17396150). Together with PARP3, promotes the retention of the LIG4-XRCC4 complex on chromatin and accelerate DNA ligation during non-homologous end-joining (NHEJ) (PubMed:21211721, PubMed:23689425). Also acts as a negative regulator of cell pluripotency by promoting histone exchange (By similarity). Required for the embryo implantation during the epithelial to mesenchymal transition in females (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Interaction of poly(ADP-ribose) with a PBZ motif in two representative human proteins, APLF (aprataxin PNK-like factor) and CHFR (checkpoint protein with FHA and RING domains), [RefSeq, PubMed]; MIR888-dependent inhibition of APLF by E2F1 was demonstrated using overexpression and knockdown experiments, in combination with luciferase assays. Publication Status: Online-Only, [RefSeq, PubMed]; PALF is novel human AP endonuclease with conserved zinc-finger-like motifs involved in DNA strand break responses., [RefSeq, PubMed]; The crystal structures of the Ku-binding motifs (KBM) of the non-homologous end joining (NHEJ) proteins APLF (A-KBM) and XLF (X-KBM) bound to a Ku-DNA complex are discussed., [RefSeq, PubMed]; These data identify APLF as a novel component of the cellular response to DNA strand breaks in human cells. Erratum:[Mol Cell Biol. 2008 May;28(10):3561], [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": 3, "reported_mutagensis": 16, "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": "A8K476;Q53P47;Q53PB9;Q53QU0", "ec_number_list": [], "go_molecular_function": "GO:0072572 poly-ADP-D-ribose binding;GO:0008270 zinc ion binding;GO:0000166 nucleotide binding;GO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity;GO:0004520 DNA endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0035861 site of double-strand break;GO:0090734 site of DNA damage", "go_biological_process": "GO:0010717 regulation of epithelial to mesenchymal transition;GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0006302 double-strand break repair;GO:0006303 double-strand break repair via nonhomologous end joining", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8IW19-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CW23-1", "uniprot_id": [ { "id": "AKAI1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CW23", "type": "external" } ], "mass": 7848.0, "length": 69, "protein_name": "A-kinase anchor protein inhibitor 1", "gene_name": "AKAIN1", "organism": "Human", "refseq_name": "A-kinase anchor protein inhibitor 1 isoform 1", "refseq_ac": [ { "id": "NP_001138666", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138666", "type": "external" } ], "gene_names_uniprotkb": "AKAIN1; C18orf42", "gene_names_refseq": "AKAIN1; C18orf42", "protein_names_uniprotkb": "A-kinase anchor protein inhibitor 1", "protein_names_refseq": "A kinase (PRKA) anchor inhibitor 1; A-kinase anchor protein C18orf42; A-kinase anchor protein inhibitor 1 isoform 1; A-kinase anchor protein inhibitor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:642597)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;25653177", "class_list": "", "function": "Protein kinase A (PKA)-binding protein. Binds to type II regulatory subunits of protein kinase A (PKA) and may block the A-kinase anchoring protein (AKAP)-mediated subcellular localization of PKA (PubMed:25653177)., [UniProtKB, PubMed]; These findings suggest that C18orf42 may be a novel PKA signaling gene that serves as an endogenous disruptor peptide for PKA-AKAP interactions., [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": 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": 1, "reported_glycation": 0, "reported_snv": 2, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0051018 protein kinase A binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0CW23-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6AI12-1", "uniprot_id": [ { "id": "ANR40_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6AI12", "type": "external" } ], "mass": 41088.0, "length": 368, "protein_name": "Ankyrin repeat domain-containing protein 40", "gene_name": "ANKRD40", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 40", "refseq_ac": [ { "id": "NP_443087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443087", "type": "external" } ], "gene_names_uniprotkb": "ANKRD40", "gene_names_refseq": "ANKRD40", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 40", "protein_names_refseq": "ankyrin repeat domain-containing protein 40", "tax_id": 9606, "disease": "", "pathway": " (hsa:91369)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;19913121;20628086;22223895;23481700;24715725;25576301;25645385;26154972;26992070;27600516;27846572;27862975;27920218;28657654;28832583;28834231;28904123;29237092;29242379;29508533;29557506;29632711;30429286;30568303;31492838;31844290;32157095;32387766;32502341;32574038;32897882;32938616;32983136;33141586;33592498;33691108;33936100;33968037;33981976;34171305;34211107;35051231;35254053;35513511;35580925;36010968;36215666;37541260;39302247;39531497", "class_list": "", "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]", "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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "Q96E32", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q6AI12-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75179-1", "uniprot_id": [ { "id": "ANR17_HUMAN", "url": "https://www.uniprot.org/uniprot/O75179", "type": "external" } ], "mass": 274258.0, "length": 2603, "protein_name": "Ankyrin repeat domain-containing protein 17", "gene_name": "ANKRD17", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 17 isoform c", "refseq_ac": [ { "id": "NP_001273700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273700", "type": "external" } ], "gene_names_uniprotkb": "ANKRD17; GTAR; KIAA0697", "gene_names_refseq": "ANKRD17; CAGS; GTAR; MASK2; NY-BR-16", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 17; Gene trap ankyrin repeat protein; Serologically defined breast cancer antigen NY-BR-16", "protein_names_refseq": "ankyrin repeat domain-containing protein 17 isoform c; ankyrin repeat domain-containing protein 17; gene trap ankyrin repeat protein; serologically defined breast cancer antigen NY-BR-16", "tax_id": 9606, "disease": "Chopra-Amiel-Gordon syndrome (MONDO:MONDO:0859186)", "pathway": " (hsa:26057)", "pathway_count": 1, "publication_count": 162, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12747765;15302935;16112985;16964243;17081983;17276651;18220336;18452278;18491316;18669648;18767875;19150984;19413330;19651622;19664994;19664995;19690332;20068231;20230923;21406692;21740066;22328336;22661428;22869377;23186163;23301498;23481700;23711367;24275569;24366607;24397554;24714562;24715725;25418920;25576301;25576336;25645385;26154972;26375851;26728094;26768311;26811146;26992070;27114449;27543614;27600516;27846572;27862975;27920218;28063628;28228285;28510447;28514659;28604694;28649982;28657654;28832583;28834231;28904123;29237092;29242379;29331515;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30059200;30192525;30315122;30379171;30397120;30410026;30484775;30524438;30620550;30779550;30784271;30833945;31154438;31217245;31222486;31492838;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33091337;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33909992;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34725712;34846842;34932366;35051231;35132862;35138101;35254053;35289036;35318648;35494241;35513511;35561310;35580925;35705054;36010968;36215666;36240223;36241641;36284347;37217939;37340703;37541260;37812578;37938771;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;40914422", "class_list": "", "function": "A novel function for Ankrd17 in Nod1 and Nod2 mediated anti-bacterial innate immune pathways., [RefSeq, PubMed]; CircANKRD17 promotes glycolysis by inhibiting miR-143 in breast cancer cells., [RefSeq, PubMed]; Could play pivotal roles in cell cycle and DNA regulation (PubMed:19150984). Involved in innate immune defense against viruse by positively regulating the viral dsRNA receptors DDX58 and IFIH1 signaling pathways (PubMed:22328336). Involves in NOD2- and NOD1-mediated responses to bacteria suggesting a role in innate antibacterial immune pathways too (PubMed:23711367). Target of enterovirus 71 which is the major etiological agent of HFMD (hand, foot and mouth disease) (PubMed:17276651). Could play a central role for the formation and/or maintenance of the blood vessels of the circulation system (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism., [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repeats, and the other with 10 ankyrin repeats. It also contains a nuclear export signal, nuclear localization signal, and a cyclin-binding RXL motif. Localization of this protein to the nucleus has been shown experimentally, and interactions between this protein and cyclin-dependent kinase 2 have been observed. It has been suggested that this protein plays a role in both DNA replication and in both anti-viral and anti-bacterial innate immune pathways. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]., [RefSeq]; The results indicated that ankrd17 is a positive regulator of the RIG-I signaling pathway. Ankrd17 enhanced the interaction of RIG-I and MDA5 with VISA; the ankyrin repeat domain of ankrd17 is required for its interaction with RIG-I., [RefSeq, 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": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 65, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 65, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 65, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 42, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 109, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 68, "binding_glycan_count": 0, "secondary_ac_list": "E7EUV3;G5E964;Q6PJ85;Q6PK85;Q6PKA2;Q86XI3;Q8NDR5;Q96I86;Q9H288;Q9H6J9", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0000785 chromatin", "go_biological_process": "GO:0045087 innate immune response;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0006275 regulation of DNA replication;GO:0042742 defense response to bacterium;GO:0045787 positive regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 23.2, "record_id": "O75179-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75891-1", "uniprot_id": [ { "id": "AL1L1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75891", "type": "external" } ], "mass": 98829.0, "length": 902, "protein_name": "Cytosolic 10-formyltetrahydrofolate dehydrogenase", "gene_name": "ALDH1L1", "organism": "Human", "refseq_name": "cytosolic 10-formyltetrahydrofolate dehydrogenase isoform 1", "refseq_ac": [ { "id": "NP_001257293", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257293", "type": "external" } ], "gene_names_uniprotkb": "ALDH1L1; FTHFD", "gene_names_refseq": "10-FTHFDH; 10-fTHF; ALDH1L1; FDH; FTHFD", "protein_names_uniprotkb": "Cytosolic 10-formyltetrahydrofolate dehydrogenase; 1.5.1.6; 10-FTHFDH; Aldehyde dehydrogenase family 1 member L1; FDH", "protein_names_refseq": "MER57B-ALDH1L1; cytosolic 10-formyltetrahydrofolate dehydrogenase isoform 1; cytosolic 10-formyltetrahydrofolate dehydrogenase", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059); cholestasis (Disease Ontology:DOID:13580)", "pathway": " (hsa:10840); (R-HSA-196757)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10091649;10347183;10978331;11237011;12065246;12805405;12937168;16171773;16959974;17057331;17074750;17129779;17308042;17962486;19413330;19424049;19933275;19948730;20498374;21163947;21238436;21876188;2248959;23409799;23481700;23934049;24275569;24366607;24715725;24733394;25418920;25892735;2605182;26154972;26992070;28218747;28228285;28904123;29393594;29437277;29557506;29632046;29786170;30315122;30410026;30429286;3053686;31154438;31217245;31530632;31844290;31848261;31937595;32265295;32423175;32658475;33053560;33141586;33163492;33298915;33537174;33633747;33968037;34357683;35051231;35460232;35580925;36010968;36336972;37596270;3801490;3871768;4066659;6323448;7726158;7852378;8218174;8522195;8662720;9753690", "class_list": "", "function": "Abnormal downregulation of 10-formyltetrahydrofolate dehydrogenase promotes the progression of oral squamous cell carcinoma by activating PI3K/Akt/Rb pathway., [RefSeq, PubMed]; Cytosolic 10-formyltetrahydrofolate dehydrogenase that catalyzes the NADP(+)-dependent conversion of 10-formyltetrahydrofolate to tetrahydrofolate and carbon dioxide (PubMed:19933275, PubMed:21238436). May also have an NADP(+)-dependent aldehyde dehydrogenase activity towards formaldehyde, acetaldehyde, propionaldehyde, and benzaldehyde (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Down-regulation of FDH in tumors is proposed to be one of the cellular mechanisms that enhance proliferation., [RefSeq, PubMed]; FDH antiproliferative effects on A549 cells include both G(1) cell cycle arrest and caspase-dependent apoptosis, [RefSeq, PubMed]; Genetic variants in ALDH1L1 and GLDC influence the serine-to-glycine ratio in Hispanic children., [RefSeq, PubMed]; One-carbon metabolizing enzyme ALDH1L1 influences mitochondrial metabolism through 5-aminoimidazole-4-carboxamide ribonucleotide accumulation and serine depletion, contributing to tumor suppression. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 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, "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": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DG36;E9PBX3;Q68CS1;Q8TBP8", "ec_number_list": [ { "id": "1.5.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.1.6", "type": "external" } ], "go_molecular_function": "GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0016155 formyltetrahydrofolate dehydrogenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0009258 10-formyltetrahydrofolate catabolic process;GO:0006740 NADPH regeneration;GO:0035999 tetrahydrofolate interconversion;GO:0044281 small molecule metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "O75891-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95626-1", "uniprot_id": [ { "id": "AN32D_HUMAN", "url": "https://www.uniprot.org/uniprot/O95626", "type": "external" } ], "mass": 14806.0, "length": 131, "protein_name": "Acidic leucine-rich nuclear phosphoprotein 32 family member D", "gene_name": "ANP32D", "organism": "Human", "refseq_name": "acidic leucine-rich nuclear phosphoprotein 32 family member D", "refseq_ac": [ { "id": "NP_036536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036536", "type": "external" } ], "gene_names_uniprotkb": "ANP32D; PP32R2", "gene_names_refseq": "ANP32D; PP32R2", "protein_names_uniprotkb": "Acidic leucine-rich nuclear phosphoprotein 32 family member D; Phosphoprotein 32-related protein 2; Tumorigenic protein pp32r2", "protein_names_refseq": "acidic (leucine-rich) nuclear phosphoprotein 32 family, member D; acidic leucine-rich nuclear phosphoprotein 32 family member D; acidic nuclear phosphoprotein 32D; phosphoprotein 32-related protein 2; pp32 related 2; tumorigenic protein pp32r2", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:23519)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10086381;15895553;25225945;26112988;31844290;33981976;35051231", "class_list": "", "function": "Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008]., [RefSeq]; Results highlight that certain malignancies with ANP32C/D overexpression or mutation might be specifically targeted using Hsp90 inhibitors., [RefSeq, PubMed]; Results provide independent evidence in support of a role for SENP1 in chronic mountain sickness in individuals of Quechua ancestry and suggest the SENP1 and ANP32D signatures of selection are in tight linkage disequilibrium (LD)., [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": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6NTC4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O95626-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03950-1", "uniprot_id": [ { "id": "ANGI_HUMAN", "url": "https://www.uniprot.org/uniprot/P03950", "type": "external" } ], "mass": 16550.0, "length": 147, "protein_name": "Angiogenin", "gene_name": "ANG", "organism": "Human", "refseq_name": "angiogenin precursor", "refseq_ac": [ { "id": "NP_001091046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091046", "type": "external" } ], "gene_names_uniprotkb": "ANG; RNASE5", "gene_names_refseq": "ALS9; ANG; HEL168; RAA1; RNASE4; RNASE5", "protein_names_uniprotkb": "Angiogenin; 3.1.27.-; RNase 5; Ribonuclease 5", "protein_names_refseq": "Homo sapiens epididymis luminal protein 168; RNase 5; angiogenin precursor; angiogenin, ribonuclease, RNase A family, 5; epididymis luminal protein 168; ribonuclease 5; ribonuclease A A1; ribonuclease A family member 5", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); ductal carcinoma in situ (Disease Ontology:DOID:0060074); amyotrophic lateral sclerosis type 9 (Disease Ontology:DOID:0060200); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); endometrial cancer (Disease Ontology:DOID:1380); eosinophilic esophagitis (Disease Ontology:DOID:13922); Parkinson's disease (Disease Ontology:DOID:14330); pancreatic cancer (Disease Ontology:DOID:1793); transient cerebral ischemia (Disease Ontology:DOID:224); ovarian cancer (Disease Ontology:DOID:2394); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); cerebral infarction (Disease Ontology:DOID:3526); trophoblastic neoplasm (Disease Ontology:DOID:4085); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); rhinitis (Disease Ontology:DOID:4483); myocardial infarction (Disease Ontology:DOID:5844); rheumatoid arthritis (Disease Ontology:DOID:7148); diabetic retinopathy (Disease Ontology:DOID:8947)", "pathway": " (hsa:283); (R-HSA-418990); (R-HSA-9708296)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "10225955;10413501;11468363;11851402;11919285;12050160;12051708;12548285;12842050;1400510;14756559;15557516;15735021;16467305;16501576;17703939;17886298;17900154;17967169;18087731;18852347;19114040;19153377;19332886;19354288;19363631;19729508;19850906;19933153;20129916;21855800;22190368;22292798;22292843;22384259;23047679;23183536;23297232;23843625;2424496;2440105;2459697;25270025;25372031;25567797;26124144;2730651;27345152;27518564;27726376;27915233;28176817;2866794;2866795;29100074;29748193;29844106;30379171;3122207;31582561;32138588;32350084;3243277;32510170;3289612;32983136;34171305;34932366;35051231;35154160;35580925;3663649;37218877;38180358;38295715;38621442;38718836;4074709;7806582;7945327;8127865;8159679;8159680;8448182;8570639;8622921;9050852;9219219;9311977;9461294;9578571;9845526;9918722", "class_list": "", "function": "Colorectal Cancer-Associated Myofibroblasts Exhibit Enhanced Angiogenin Expression and Signaling via the PLXNB2 Receptor., [RefSeq, PubMed]; Human angiogenin has antimicrobial activity against C. albicans and S. pneumoniae., [RefSeq, PubMed]; Long-timescale atomistic simulations uncover loss-of-function mechanisms of uncharacterized Angiogenin mutants associated with ALS., [RefSeq, PubMed]; Neural stem cell homeostasis is affected in cortical organoids carrying a mutation in Angiogenin., [RefSeq, PubMed]; Secreted ribonuclease that can either promote or restrict cell proliferation of target cells, depending on the context (PubMed:12051708, PubMed:1400510, PubMed:19332886, PubMed:20129916, PubMed:21855800, PubMed:23047679, PubMed:23843625, PubMed:2424496, PubMed:2459697, PubMed:2730651, PubMed:27518564, PubMed:28176817, PubMed:29100074, PubMed:29748193, PubMed:3122207, PubMed:32510170, PubMed:38718836, PubMed:8159680, PubMed:8570639, PubMed:8622921, PubMed:9578571). Endocytosed in target cells via its receptor PLXNB2 and translocates to the cytoplasm or nucleus (PubMed:29100074, PubMed:32510170). Under stress conditions, localizes to the cytoplasm and promotes the assembly of stress granules (SGs): specifically cleaves a subset of tRNAs within anticodon loops to produce tRNA-derived stress-induced fragments (tiRNAs), resulting in translation repression and inhibition of cell proliferation (PubMed:1400510, PubMed:19332886, PubMed:20129916, PubMed:21855800, PubMed:23047679, PubMed:27518564, PubMed:29100074, PubMed:29748193, PubMed:32510170, PubMed:38718836). tiRNas also prevent formation of apoptosome, thereby promoting cell survival (By similarity). Preferentially cleaves RNAs between a pyrimidine and an adenosine residue, suggesting that it cleaves the anticodon loop of tRNA(Ala) (32-UUAGCAU-38) after positions 33 and 36 (PubMed:3289612, PubMed:38718836). Cleaves a subset of tRNAs, including tRNA(Ala), tRNA(Glu), tRNA(Gly), tRNA(Lys), tRNA(Val), tRNA(His), tRNA(Asp) and tRNA(Sec) (PubMed:31582561). Under growth conditions and in differentiated cells, translocates to the nucleus and stimulates ribosomal RNA (rRNA) transcription, including that containing the initiation site sequences of 45S rRNA, thereby promoting cell growth and proliferation (PubMed:12051708, PubMed:15735021, PubMed:27518564, PubMed:29100074, PubMed:8127865). Angiogenin induces vascularization of normal and malignant tissues via its ability to promote rRNA transcription (PubMed:19354288, PubMed:4074709, PubMed:8448182). Involved in hematopoietic stem and progenitor cell (HSPC) growth and survival by promoting rRNA transcription in growth conditions and inhibiting translation in response to stress, respectively (PubMed:27518564). Mediates the crosstalk between myeloid and intestinal epithelial cells to protect the intestinal epithelial barrier integrity: secreted by myeloid cells and promotes intestinal epithelial cells proliferation and survival (PubMed:32510170). Also mediates osteoclast-endothelial cell crosstalk in growing bone: produced by osteoclasts and protects the neighboring vascular cells against senescence by promoting rRNA transcription (By similarity)., [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, UniProtKB, PubMed, PubMed]; Structural mechanism of angiogenin activation by the ribosome., [RefSeq, PubMed]; The protein encoded by this gene is a member of the RNase A superfamily though it has relatively weak ribonucleolytic activity. This protein is a potent mediator of new blood vessel formation and thus, in addition to the name RNase5, is commonly called angiogenin. This protein induces angiogenesis after binding to actin on the surface of endothelial cells. This protein also accumulates at the nucleolus where it stimulates ribosomal transcription. Under stress conditions this protein translocates to the cytosol where it hydrolyzes cellular tRNAs and influences protein synthesis. A signal peptide is cleaved from the precursor protein to produce a mature protein which contains a nuclear localization signal, a cell binding motif, and a catalytic domain. This protein has been shown to be both neurotrophic and neuroprotective and the mature protein has antimicrobial activity against some bacteria and fungi, including S. pneumoniae and C. albicans. Due to its effect on rRNA production and angiogenesis this gene plays important roles in cell growth and tumor progression. Mutations in this gene are associated with progression of amyotrophic lateral sclerosis (ALS). This gene and the neighboring RNase4 gene share promoters and 5' exons though each gene then splices to a distinct 3' exon containing the complete coding region of each gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2020]., [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": 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": 1, "reported_mutagensis": 22, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 24, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q05CV1;Q53X86;Q6P5T2;Q8WXE7", "ec_number_list": [ { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003779 actin binding;GO:0005102 signaling receptor binding;GO:0008201 heparin binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0016078 tRNA decay;GO:0032055 negative regulation of translation in response to stress;GO:0001525 angiogenesis;GO:0007165 signal transduction;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P03950-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05549-1", "uniprot_id": [ { "id": "AP2A_HUMAN", "url": "https://www.uniprot.org/uniprot/P05549", "type": "external" } ], "mass": 48062.0, "length": 437, "protein_name": "Transcription factor AP-2-alpha", "gene_name": "TFAP2A", "organism": "Human", "refseq_name": "transcription factor AP-2-alpha isoform b", "refseq_ac": [ { "id": "NP_001027451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027451", "type": "external" } ], "gene_names_uniprotkb": "TFAP2A; AP2TF; TFAP2", "gene_names_refseq": "AP-2alpha; AP-2; AP2TF; BOFS; TFAP2A; TFAP2", "protein_names_uniprotkb": "Transcription factor AP-2-alpha; AP-2 transcription factor; AP-2; AP2-alpha; Activating enhancer-binding protein 2-alpha; Activator protein 2", "protein_names_refseq": "AP-2 transcription factor; activating enhancer-binding protein 2-alpha; activator protein 2; transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha); transcription factor AP-2-alpha isoform b", "tax_id": 9606, "disease": "orofacial cleft (Disease Ontology:DOID:0050567); branchiooculofacial syndrome (Disease Ontology:DOID:0050691); dilated cardiomyopathy (Disease Ontology:DOID:12930); sleep disorder (Disease Ontology:DOID:535)", "pathway": " (hsa:7020); (R-HSA-8864260); (R-HSA-8866904); (R-HSA-8866906); (R-HSA-8866907); (R-HSA-8866910); (R-HSA-8866911); (R-HSA-8869496); (R-HSA-9764790); (R-HSA-9824585); (R-HSA-9834899); (R-HSA-9938206)", "pathway_count": 12, "publication_count": 97, "publication_id_list": "10037142;10497269;10587587;10648798;11237011;11532965;11694877;11744733;11856727;11964381;12062444;12072434;12586840;12595566;12775724;1321344;14744778;1537333;1537334;15475956;15543135;15548692;15695812;15729346;15870067;16303920;16698963;17182843;17318229;17952075;17998543;18423521;18483556;18669648;18697795;18812475;18845787;19115315;19318566;19389701;19717472;19798054;19843847;1998122;20068231;2010091;20581866;21084835;21777522;22371483;22735262;23382213;23684889;24267888;25772240;26308378;26694611;26832794;27600516;29393594;30206221;30515787;30542730;3063603;31844290;31957176;32157095;32488085;32938616;33000225;33100333;33968037;33981976;35051231;35318648;35580127;36215666;36420658;37217939;38605348;38890750;39187936;39369843;39534244;7813420;7891714;8190633;8306979;8321221;8895516;8921401;8988173;9162057;9182571;9687504;9758418;9850080", "class_list": "", "function": "AP-2alpha decreases TMZ resistance of recurrent GBM by downregulating MGMT expression and improving DNA damage., [RefSeq, PubMed]; Endomucin selectively regulates vascular endothelial growth factor receptor-2 endocytosis through its interaction with AP2. Erratum:[Cell Commun Signal. 2024 Jun 6;22(1):311. doi: 10.1186/s12964-024-01696-6. PMID: 38844932] Publication Status: Online-Only, [RefSeq, PubMed]; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They can also suppress a number of genes including MCAM/MUC18 and C/EBP alpha. Is involved in the negative regulation of Wnt canonical signaling, and is a transcriptional repressor of MYC (PubMed:33000225). AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region., [UniProtKB, PubMed, PubMed, PubMed]; TFAP2A Activates S100A2 to Mediate Glutamine Metabolism and Promote Lung Adenocarcinoma Metastasis., [RefSeq, PubMed]; TFAP2A downregulation mediates tumor-suppressive effect of miR-8072 in triple-negative breast cancer via inhibiting SNAI1 transcription. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 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, "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q13777;Q5TAV5;Q8N1C6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0042802 identical protein binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor 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:0007399 nervous system development;GO:0008285 negative regulation of cell population proliferation;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "P05549-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16066-1", "uniprot_id": [ { "id": "ANPRA_HUMAN", "url": "https://www.uniprot.org/uniprot/P16066", "type": "external" } ], "mass": 118919.0, "length": 1061, "protein_name": "Atrial natriuretic peptide receptor 1", "gene_name": "NPR1", "organism": "Human", "refseq_name": "atrial natriuretic peptide receptor 1 precursor", "refseq_ac": [ { "id": "NP_000897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000897", "type": "external" } ], "gene_names_uniprotkb": "NPR1; ANPRA", "gene_names_refseq": "ANP-A; ANPRA; ANPa; GC-A; GUC2A; GUCY2A; NPR1; NPRA", "protein_names_uniprotkb": "Atrial natriuretic peptide receptor 1; 4.6.1.2; ANP-A; ANPR-A; Atrial natriuretic peptide receptor type A; GC-A; Guanylate cyclase A; NPR-A", "protein_names_refseq": "ANPR-A; NPR-A; atrial natriuretic peptide receptor 1 precursor; atrial natriuretic peptide receptor 1; atrial natriuretic peptide receptor type A; guanylate cyclase A; natriuretic peptide A type receptor; natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A); natriuretic peptide receptor A; testicular tissue protein Li 20", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:4881); (R-HSA-5578768)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;10880574;14559895;15146390;1660465;1672777;17344846;17660514;19934029;20977274;2144260;23481700;25202235;2569967;25892735;26817948;26990595;27862975;29557506;30429286;31844290;32157095;32161166;32387766;32506827;32938616;32983136;34671022;34930837;35051231;35580925;36016499;36241641;37074911;37080586;37356621;37938771;39543315;7954658;9528788;9618281", "class_list": "", "function": "Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension., [RefSeq, PubMed]; Discovery of small molecule guanylyl cyclase A receptor positive allosteric modulators., [RefSeq, PubMed]; Dual deletion of guanylyl cyclase-A and p38 mitogen-activated protein kinase in podocytes with aldosterone administration causes glomerular intra-capillary thrombi., [RefSeq, PubMed]; Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]., [RefSeq]; Natriuretic peptide receptor a promotes gastric malignancy through angiogenesis process. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for the atrial natriuretic peptide NPPA/ANP and the brain natriuretic peptide NPPB/BNP which are potent vasoactive hormones playing a key role in cardiovascular homeostasis (PubMed:39543315). Plays an essential role in the regulation of endothelial cell senescence and vascular aging (PubMed:36016499). Upon activation by ANP or BNP, stimulates the production of cyclic guanosine monophosphate (cGMP) that promotes vascular tone and volume homeostasis by activation of protein kinase cGMP-dependent 1/PRKG1 and subsequently PRKAA1, thereby controlling blood pressure and maintaining cardiovascular homeostasis (PubMed:36016499)., [UniProtKB, PubMed, PubMed, 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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B0ZBF0;Q5SR08;Q6P4Q3", "ec_number_list": [ { "id": "4.6.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.2", "type": "external" } ], "go_molecular_function": "GO:0004383 guanylate cyclase activity;GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0042562 hormone binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031965 nuclear membrane;GO:0043235 receptor complex;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006182 cGMP biosynthetic process;GO:0007166 cell surface receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0008217 regulation of blood pressure;GO:0035810 positive regulation of urine volume", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "P16066-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17342-1", "uniprot_id": [ { "id": "ANPRC_HUMAN", "url": "https://www.uniprot.org/uniprot/P17342", "type": "external" } ], "mass": 59808.0, "length": 541, "protein_name": "Atrial natriuretic peptide receptor 3", "gene_name": "NPR3", "organism": "Human", "refseq_name": "atrial natriuretic peptide receptor 3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_000899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000899", "type": "external" } ], "gene_names_uniprotkb": "NPR3; ANPRC; C5orf23; NPRC", "gene_names_refseq": "ANP-C; ANPR-C; ANPRC; BOMOS; C5orf23; GUCY2B; NPR-C; NPR3; NPRC", "protein_names_uniprotkb": "Atrial natriuretic peptide receptor 3; ANP-C; ANPR-C; Atrial natriuretic peptide clearance receptor; Atrial natriuretic peptide receptor type C; NPR-C", "protein_names_refseq": "atrial natriuretic peptide clearance receptor; atrial natriuretic peptide receptor 3 isoform 2 precursor; atrial natriuretic peptide receptor 3; atrial natriuretic peptide receptor type C; natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "tax_id": 9606, "disease": "bone disease (Disease Ontology:DOID:0080001); hypertension (Disease Ontology:DOID:10763); diabetic retinopathy (Disease Ontology:DOID:8947); Boudin-Mortier syndrome (MONDO:MONDO:0859194)", "pathway": " (hsa:4883)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11533490;1660465;16870210;2162522;2169733;23090970;24190977;24715725;28121444;28218747;29437277;29557506;30032985;30620550;31217245;32387766;33298915;34229087;34668435;35051231;36215666;36241641;37074911;37101178;37543430;37553374;7727388", "class_list": "", "function": "Genetic evidence implicating natriuretic peptide receptor-3 in cardiovascular disease risk: a Mendelian randomization study. Publication Status: Online-Only, [RefSeq, PubMed]; NPR3, transcriptionally regulated by POU2F1, inhibits osteosarcoma cell growth through blocking the PI3K/AKT pathway., [RefSeq, PubMed]; NPRC deletion mitigated atherosclerosis by inhibiting oxidative stress, inflammation and apoptosis in ApoE knockout mice. Erratum:[Signal Transduct Target Ther. 2023 Sep 4;8(1):329. doi: 10.1038/s41392-023-01599-x. PMID: 37666826] Publication Status: Online-Only, [RefSeq, PubMed]; Oxygen and steroids affect the regulatory role of natriuretic peptide receptor-C on surfactant secretion by type II cells., [RefSeq, PubMed]; Receptor for the natriuretic peptide hormones, binding with similar affinities atrial natriuretic peptide NPPA/ANP, brain natriuretic peptide NPPB/BNP, and C-type natriuretic peptide NPPC/CNP. May function as a clearance receptor for NPPA, NPPB and NPPC, regulating their local concentrations and effects. Acts as a regulator of osteoblast differentiation and bone growth by binding to its ligand osteocrin, thereby preventing binding between NPR3/NPR-C and natriuretic peptides, leading to increase cGMP production (By similarity)., [UniProtKB, UniProtKB]; TMT-based quantitative proteomic analysis revealed that FBLN2 and NPR3 are involved in the early osteogenic differentiation of mesenchymal stem cells (MSCs)., [RefSeq, PubMed]; This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A2RRD1;B4DT84;E7EPG9", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0031404 chloride ion binding;GO:0042562 hormone binding;GO:0017046 peptide hormone binding;GO:0008528 G protein-coupled peptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0032991 protein-containing complex;GO:0016020 membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0002931 response to ischemia;GO:0007165 signal transduction;GO:0001974 blood vessel remodeling;GO:0008217 regulation of blood pressure", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "P17342-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24588-1", "uniprot_id": [ { "id": "AKAP5_HUMAN", "url": "https://www.uniprot.org/uniprot/P24588", "type": "external" } ], "mass": 47088.0, "length": 427, "protein_name": "A-kinase anchor protein 5", "gene_name": "AKAP5", "organism": "Human", "refseq_name": "A-kinase anchor protein 5", "refseq_ac": [ { "id": "NP_004848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004848", "type": "external" } ], "gene_names_uniprotkb": "AKAP5; AKAP79", "gene_names_refseq": "AKAP5; AKAP75; AKAP79; H21", "protein_names_uniprotkb": "A-kinase anchor protein 5; A-kinase anchor protein 79 kDa; AKAP 79; AKAP-5; H21; cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein", "protein_names_refseq": "A kinase (PRKA) anchor protein 5; A-kinase anchor protein 5; A-kinase anchor protein 79 kDa; A-kinase anchoring protein 75/79; AKAP 79; cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:9495); (R-HSA-381676); (R-HSA-399719); (R-HSA-9010642)", "pathway_count": 4, "publication_count": 51, "publication_id_list": "10318832;11071853;12034449;12180908;12401793;12410638;12475787;12496249;12938160;13680124;14988243;1512224;15569269;15955806;15995848;16613879;16973695;17095603;17306374;1733921;17444618;17900700;18202100;18287102;18311135;18412318;18577758;19859570;19861722;21771783;24349250;25589740;25882844;26308095;26811146;32350084;32938616;33941685;34458850;35051231;35251023;36317924;38211639;7589461;8138058;8404634;8405712;8830891;9417641;9488697;9920805", "class_list": "", "function": "AKAP79 Orchestrates a Cyclic AMP Signalosome Adjacent to Orai1 Ca[2+] Channels. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled estrogen receptor (GPER)/GPR30 forms a complex with the beta1-adrenergic receptor, a membrane-associated guanylate kinase (MAGUK) scaffold protein, and protein kinase A anchoring protein (AKAP) 5 in MCF7 breast cancer cells., [RefSeq, PubMed]; Multivalent scaffold protein that anchors the cAMP-dependent protein kinase/PKA to cytoskeletal and/or organelle-associated proteins, targeting the signal carried by cAMP to specific intracellular effectors (PubMed:1512224). Association with the beta2-adrenergic receptor (beta2-AR) not only regulates beta2-AR signaling pathway, but also the activation by PKA by switching off the beta2-AR signaling cascade. Plays a role in long term synaptic potentiation by regulating protein trafficking from the dendritic recycling endosomes to the plasma membrane and controlling both structural and functional plasticity at excitatory synapses (PubMed:25589740). In hippocampal pyramidal neurons, recruits KCNK2/TREK-1 channel at postsynaptic dense bodies microdomains and converts it to a leak channel no longer sensitive to stimulation by arachidonic acid, acidic pH or mechanical stress, nor inhibited by Gq-coupled receptors but still under the negative control of Gs-coupled receptors (By similarity). Associates with ORAI1 pore-forming subunit of CRAC channels in Ca(2+) signaling microdomains where it recruits NFATC2/NFAT1 and couples store-operated Ca(2+) influx to calmodulin and calcineurin signaling and activation of NFAT-dependent transcriptional responses (PubMed:33941685)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Nuanced Interactions between AKAP79 and STIM1 with Orai1 Ca[2+] Channels at Endoplasmic Reticulum-Plasma Membrane Junctions Sustain NFAT Activation., [RefSeq, PubMed]; The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [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, "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": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 2, "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": "A2RRB8", "ec_number_list": [], "go_molecular_function": "GO:0031698 beta-2 adrenergic receptor binding;GO:0060090 molecular adaptor activity;GO:0005516 calmodulin binding;GO:0017124 SH3 domain binding;GO:0008179 adenylate cyclase binding", "go_cellular_component": "GO:0098837 postsynaptic recycling endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0030425 dendrite", "go_biological_process": "GO:0007165 signal transduction;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007194 negative regulation of adenylate cyclase activity;GO:1900273 positive regulation of long-term synaptic potentiation;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P24588-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27338-1", "uniprot_id": [ { "id": "AOFB_HUMAN", "url": "https://www.uniprot.org/uniprot/P27338", "type": "external" } ], "mass": 58763.0, "length": 520, "protein_name": "Amine oxidase [flavin-containing] B", "gene_name": "MAOB", "organism": "Human", "refseq_name": "amine oxidase [flavin-containing] B", "refseq_ac": [ { "id": "NP_000889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000889", "type": "external" } ], "gene_names_uniprotkb": "MAOB", "gene_names_refseq": "MAOB", "protein_names_uniprotkb": "Amine oxidase [flavin-containing] B; 1.4.3.21; 1.4.3.4; MAO-B; Monoamine oxidase type B", "protein_names_refseq": "MAO, brain; MAO, platelet; MAO-B; adrenalin oxidase; amine oxidase [flavin-containing] B; monoamine oxidase type B; tyramine oxidase", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); cholestasis (Disease Ontology:DOID:13580); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:4129); (R-HSA-141333)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "11049757;11134050;11159700;11753429;12913124;1432104;15027868;15110846;15710600;15974574;16366596;1705137;18426226;2023912;20493079;21200377;21377879;21680183;24139167;26316187;2764901;28510447;29557506;31045589;32157095;3387449;34171305;35051231;35961947;36284347;37238670;38335292;38379404;38520217;4016087;6408492;6788990;8316221;8515265;8665924;8875133;9564636", "class_list": "", "function": "Catalyzes the oxidative deamination of primary and some secondary amines such as neurotransmitters, and exogenous amines including the tertiary amine, neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), with concomitant reduction of oxygen to hydrogen peroxide and participates in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues (PubMed:11049757, PubMed:11134050, PubMed:20493079, PubMed:8316221, PubMed:8665924). Preferentially degrades benzylamine and phenylethylamine (PubMed:11049757, PubMed:11134050, PubMed:20493079, PubMed:8316221, PubMed:8665924)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; MAOB expression correlates with a favourable prognosis in prostate cancer, and its genetic variants are associated with the metastasis of the disease., [RefSeq, PubMed]; Monoamine oxidase B inhibits epithelial-mesenchymal transition and trigger apoptosis via targeting ERK1/2 signaling pathway in head and neck squamous cell carcinoma., [RefSeq, PubMed]; Platelet Serotonin (5-HT) Concentration, Platelet Monoamine Oxidase B (MAO-B) Activity and HTR2A, HTR2C, and MAOB Gene Polymorphisms in Asthma. Publication Status: Online-Only, [RefSeq, PubMed]; Relationship of DRD5 and MAO-B VNTR polymorphisms with paranoid and antisocial personality disorders in polydrug users., [RefSeq, PubMed]; Stromal-derived MAOB promotes prostate cancer growth and progression., [RefSeq, PubMed]; The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [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, "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": 0, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6R3;B7Z5H3;D3DWC3;Q7Z6S2", "ec_number_list": [ { "id": "1.4.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.21", "type": "external" }, { "id": "1.4.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.4", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" } ], "go_molecular_function": "GO:0097621 monoamine oxidase activity;GO:0009055 electron transfer activity;GO:0008131 primary methylamine oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005740 mitochondrial envelope;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0021762 substantia nigra development;GO:0042428 serotonin metabolic process;GO:0042420 dopamine catabolic process;GO:0050665 hydrogen peroxide biosynthetic process;GO:0019607 phenylethylamine catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P27338-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50995-1", "uniprot_id": [ { "id": "ANX11_HUMAN", "url": "https://www.uniprot.org/uniprot/P50995", "type": "external" } ], "mass": 54390.0, "length": 505, "protein_name": "Annexin A11", "gene_name": "ANXA11", "organism": "Human", "refseq_name": "annexin A11 isoform 1", "refseq_ac": [ { "id": "NP_001148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001148", "type": "external" } ], "gene_names_uniprotkb": "ANXA11; ANX11", "gene_names_refseq": "ALS23; ANX11; ANXA11; CAP-50; CAP50; IBMWMA", "protein_names_uniprotkb": "Annexin A11; 56 kDa autoantigen; Annexin XI; Annexin-11; CAP-50; Calcyclin-associated annexin 50", "protein_names_refseq": "56 kDa autoantigen; annexin A11 isoform 1; annexin XI; annexin-11; calcyclin-associated annexin 50; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 23 (Disease Ontology:DOID:0080225); inclusion body myopathy and brain white matter abnormalities (Disease Ontology:DOID:0081121)", "pathway": " (hsa:311)", "pathway_count": 1, "publication_count": 94, "publication_id_list": "11013079;11237011;11883939;12601007;12805373;15197175;17081065;17697703;18083107;18256029;19531498;19608861;20068231;20112406;21654843;22869377;23481700;24029068;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26811146;26992070;27397612;27655845;27846572;27862975;28467828;28469040;28904123;29493099;29557506;30315122;30429286;30779550;30833945;31154438;31222486;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33043033;33091337;33123756;33214551;33298915;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34048612;34171305;34229054;34357683;34561969;34725712;34932366;35051231;35138101;35318648;35561310;35580925;36134701;36241641;36280108;36284347;36651622;37938771;38665916;38896345;39259536;40914422;7508441", "class_list": "", "function": "Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11., [RefSeq, PubMed]; Annexin A11 aggregation in FTLD-TDP type C and related neurodegenerative disease proteinopathies. Publication Status: Online-Only, [RefSeq, PubMed]; Binds specifically to calcyclin in a calcium-dependent manner (By similarity). Required for midbody formation and completion of the terminal phase of cytokinesis., [UniProtKB, PubMed]; Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants., [RefSeq, PubMed]; Genetic analysis of and clinical characteristics associated with ANXA11 variants in a Chinese cohort with amyotrophic lateral sclerosis. Review article, [RefSeq, PubMed]; Non-canonical RNA-binding protein ANXA11 regulates microRNA resorting into small extracellular vesicles to mediate cisplatin resistance., [RefSeq, PubMed]; This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]., [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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "B4DVE7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0048306 calcium-dependent protein binding;GO:0023026 MHC class II protein complex binding;GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005819 spindle", "go_biological_process": "GO:0051592 response to calcium ion;GO:0006909 phagocytosis;GO:0032506 cytokinetic process", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P50995-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M3G0-4", "uniprot_id": [ { "id": "ABCB5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M3G0", "type": "external" } ], "mass": 138641.0, "length": 1257, "protein_name": "ATP-binding cassette sub-family B member 5", "gene_name": "ABCB5", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family B member 5 isoform 1", "refseq_ac": [ { "id": "NP_001157413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157413", "type": "external" } ], "gene_names_uniprotkb": "ABCB5", "gene_names_refseq": "ABCB5alpha; ABCB5beta; ABCB5; EST422562", "protein_names_uniprotkb": "ATP-binding cassette sub-family B member 5; 7.6.2.2; ABCB5 P-gp; P-glycoprotein ABCB5", "protein_names_refseq": "ABCB5 P-gp; ATP-binding cassette protein; ATP-binding cassette sub-family B member 5 isoform 1; ATP-binding cassette sub-family B member 5; ATP-binding cassette, sub-family B (MDR/TAP), member 5; P-glycoprotein ABCB5", "tax_id": 9606, "disease": "cystic fibrosis (Disease Ontology:DOID:1485)", "pathway": " (hsa:340273); (R-HSA-382556)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10.1101/2023.09.13.557529;10484077;10665657;10748049;11504826;11562789;11812794;12379217;12379510;12403779;12604685;12960149;1352877;1356264;1359686;1377674;14661924;15175422;15205344;15472518;15760339;15863492;15899824;16816140;16901789;16959974;17523162;17855752;17894550;17977821;18282684;18434309;18772397;19002207;19447222;19570978;1968359;19862647;1998343;20583968;20621639;21652540;22044138;22178883;22306008;22675422;22784549;23063411;23770371;24019521;24685677;2475911;24934811;25030174;25133187;2570070;26208431;26992070;28132103;28228285;2898143;29314611;29393594;29557506;29632711;32157095;32314731;32350084;32387766;32981041;33592498;33968037;3457471;3472246;35051231;36242878;36868990;37685897;38073314;38145744;7523390;7529176;7553863;7553864;7865904;9652413;9816258;9831708", "class_list": "", "function": "ABCB5 P-glycoprotein functions include: Regulation of progenitor cell fusion; Regulation of cell membrane potential; Rhodamine-123 transport., [RefSeq, PubMed]; ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]., [RefSeq]; ABCB5 mediates chemoresistance in stem cell phenotype-expressing human malignant melanoma cells., [RefSeq, PubMed]; ABCB5[+] mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa. Erratum:[Cytotherapy. 2023 Sep;25(9):1016. doi: 10.1016/j.jcyt.2023.06.001. PMID: 37517864], [RefSeq, PubMed]; Changes in Expression and Function of Placental and Intestinal P-gp and BCRP Transporters during Pregnancy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Consecutive dosing of UVB irradiation induces loss of ABCB5 expression and activation of EMT and fibrosis proteins in limbal epithelial cells similar to pterygium epithelium., [RefSeq, PubMed]; Energy-dependent efflux transporter responsible for decreased drug accumulation in multidrug-resistant cells (PubMed:12960149, PubMed:15205344, PubMed:15899824, PubMed:22306008). Specifically present in limbal stem cells, where it plays a key role in corneal development and repair (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Evaluation of ABCB5 immunostained epithelial stem cells in oral squamous cell carcinoma, inflammatory gingival hyperplasia and normal mucosa., [RefSeq, PubMed]; Expression of ABCB 5alpha/beta might possibly provide two novel molecular markers for differential diagnosis of melanomas and constitute potential molecular targets for therapy of melanomas, [RefSeq, PubMed]; Identification of two novel heterodimeric ABC transporters in melanoma: ABCB5beta/B6 and ABCB5beta/B9., [RefSeq, PubMed]", "predicted_glycosites": 10, "predicted_n_glycosites": 10, "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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 79, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A4D131;A7BKA4;B5MD19;B7WPL1;F8QQP8;F8QQP9;J3KQ04;Q2M3I5;Q5I5Q7;Q5I5Q8;Q6KG50;Q6XFQ5;Q8IXA1", "ec_number_list": [ { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "7.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.2", "type": "external" }, { "id": "7.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0008559 ABC-type xenobiotic transporter activity;GO:0016887 ATP hydrolysis activity;GO:0015562 efflux transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0030154 cell differentiation;GO:0042391 regulation of membrane potential;GO:0055085 transmembrane transport;GO:0001654 eye development", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q2M3G0-4", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3KP44-1", "uniprot_id": [ { "id": "ANR55_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3KP44", "type": "external" } ], "mass": 68414.0, "length": 614, "protein_name": "Ankyrin repeat domain-containing protein 55", "gene_name": "ANKRD55", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 55", "refseq_ac": [ { "id": "NP_078945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078945", "type": "external" } ], "gene_names_uniprotkb": "ANKRD55", "gene_names_refseq": "ANKRD55", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 55", "protein_names_refseq": "ankyrin repeat domain-containing protein 55", "tax_id": 9606, "disease": "", "pathway": " (hsa:79722)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;20080650;25418920;29493099;29557506;31620119;33491520;33536079;35051231;35111166;35580925", "class_list": "", "function": "Genomic Multiple Sclerosis Risk Variants Modulate the Expression of the ANKRD55-IL6ST Gene Region in Immature Dendritic Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Interactome of the Autoimmune Risk Protein ANKRD55. Publication Status: Online-Only, [RefSeq, PubMed]; Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population., [RefSeq, PubMed]; Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation. Publication Status: Online-Only, [RefSeq, PubMed]; 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, "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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "B3KVT8;Q3KP45;Q9HAD3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q3KP44-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4VCS5-1", "uniprot_id": [ { "id": "AMOT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4VCS5", "type": "external" } ], "mass": 118085.0, "length": 1084, "protein_name": "Angiomotin", "gene_name": "AMOT", "organism": "Human", "refseq_name": "angiomotin isoform 1", "refseq_ac": [ { "id": "NP_001106962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106962", "type": "external" } ], "gene_names_uniprotkb": "AMOT; KIAA1071", "gene_names_refseq": "AMOT", "protein_names_uniprotkb": "Angiomotin", "protein_names_refseq": "angiomotin isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:154796)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11257124;16043488;16678097;17525332;21205866;22385262;24101513;25218447;25576301;25645385;25892735;26375851;26992070;27321186;27600516;27846572;27862975;27869121;28657654;28832583;28834231;29217192;29242379;29249144;29485866;29508533;29557506;29769354;29786170;29789417;30192525;30429286;30524438;30620550;30779550;31154438;31530632;31844290;31848261;32119511;32157095;32387766;32502341;32870666;32897882;32938616;33141586;33537174;33592498;33912179;33936100;33968037;34019948;34171305;34185709;34211107;34284061;34932366;35051231;35138101;35154160;35254053;35580925;36010968;37541260;37938771;38665916", "class_list": "", "function": "Interactions between AMOT PPxY motifs and NEDD4L WW domains function in HIV-1 release., [RefSeq, PubMed]; Plays a central role in tight junction maintenance via the complex formed with ARHGAP17, which acts by regulating the uptake of polarity proteins at tight junctions. Appears to regulate endothelial cell migration and tube formation. May also play a role in the assembly of endothelial cell-cell junctions. Repressor of YAP1 and WWTR1/TAZ transcription of target genes, potentially via regulation of Hippo signaling-mediated phosphorylation of YAP1 which results in its recruitment to tight junctions (PubMed:21205866)., [UniProtKB, PubMed, PubMed, PubMed]; This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "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": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q504X5;Q9HD27;Q9UPT1", "ec_number_list": [], "go_molecular_function": "GO:0043532 angiostatin binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005884 actin filament;GO:0005886 plasma membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001525 angiogenesis;GO:0035329 hippo signaling;GO:0043116 negative regulation of vascular permeability;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q4VCS5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53RE8-1", "uniprot_id": [ { "id": "ANR39_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53RE8", "type": "external" } ], "mass": 19651.0, "length": 183, "protein_name": "Ankyrin repeat domain-containing protein 39", "gene_name": "ANKRD39", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 39", "refseq_ac": [ { "id": "NP_057550", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057550", "type": "external" } ], "gene_names_uniprotkb": "ANKRD39; HSPC200", "gene_names_refseq": "ANKRD39", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 39", "protein_names_refseq": "ankyrin repeat domain-containing protein 39", "tax_id": 9606, "disease": "", "pathway": " (hsa:51239)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "15592455;18669648;22544926;23481700;26992070;27920218;28063628;28228285;28832583;28834231;29242379;29393594;29508533;29632046;30315122;30429286;30524438;31154438;31844290;32157095;32265295;32357974;32387766;32502341;32897882;32938616;33298915;33691108;33717175;33968037;34509645;35051231;36284347", "class_list": "", "function": "", "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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "Q59FU2;Q8N5X5;Q9P0S5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q53RE8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5CZ79-1", "uniprot_id": [ { "id": "AN20B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5CZ79", "type": "external" } ], "mass": 93909.0, "length": 823, "protein_name": "Ankyrin repeat domain-containing protein 20B", "gene_name": "ANKRD20A8P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ANKRD20A8P; ANKRD20B", "gene_names_refseq": "", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 20B; Ankyrin repeat domain-containing protein 20A pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 13, "publication_id_list": "27600516;28834231;29242379;31154438;31217245;31848261;32157095;32938616;33592498;33981976;35051231;35580925;36241641", "class_list": "", "function": "", "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": 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": "A6NC18", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q5CZ79-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SJ2-1", "uniprot_id": [ { "id": "AMGO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SJ2", "type": "external" } ], "mass": 57934.0, "length": 522, "protein_name": "Amphoterin-induced protein 2", "gene_name": "AMIGO2", "organism": "Human", "refseq_name": "amphoterin-induced protein 2 precursor", "refseq_ac": [ { "id": "NP_001137140", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137140", "type": "external" } ], "gene_names_uniprotkb": "AMIGO2; ALI1", "gene_names_refseq": "ALI1; AMIGO-2; AMIGO2; DEGA", "protein_names_uniprotkb": "Amphoterin-induced protein 2; AMIGO-2; Alivin-1; DEGA; Differentially expressed in gastric adenocarcinomas", "protein_names_refseq": "alivin 1; amphoterin induced gene 2; amphoterin-induced protein 2 precursor; amphoterin-induced protein 2; differentially expressed in gastric adenocarcinomas; differentially expressed in gastric adenocarcinoma; transmembrane protein AMIGO2", "tax_id": 9606, "disease": "gastric adenocarcinoma (Disease Ontology:DOID:3717)", "pathway": " (hsa:347902); (R-HSA-9013149); (R-HSA-9013423)", "pathway_count": 3, "publication_count": 254, "publication_id_list": "10.1101/2023.09.13.557529;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10699171;10699464;10873802;10958683;11007481;11058585;11085924;11149925;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11956649;11961559;12071859;12093360;12096337;12195014;12221096;12351724;12432077;12531887;12546821;12547822;12629050;12650940;12665586;12843293;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15107827;15133129;15147912;15302923;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16243036;16473593;16492808;16507994;16519628;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17077126;17081983;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17976533;18006505;18045877;18218625;18249095;18347018;18396277;18426980;18653540;18697831;18838382;19269969;19494238;19534724;19605563;19673492;19713215;19934221;20400958;20460433;20679435;20810653;21148482;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22970203;23090970;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23940355;24086303;24190977;24259668;24335996;24352656;24859002;24933155;24960694;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25862245;26129894;26529257;26628301;26887924;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;27846572;28114311;28196833;28356423;28832583;29089502;29242379;29358323;29382922;29557506;29632711;29741879;29786170;30429286;30833945;30853411;31154438;31848261;31871319;32161166;32203420;32488085;32938616;33592498;33968037;35051231;35296279;35580925;35843033;36010968;36241641;37438979;38189855;38811439;41018975;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9252344;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9843499;9988689", "class_list": "", "function": "AMIGO2 attenuates innate cisplatin sensitivity by suppression of GSDME-conferred pyroptosis in non-small cell lung cancer., [RefSeq, PubMed]; AMIGO2 is a pivotal therapeutic target related to M2 polarization of macrophages in pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; AMIGO2 is involved in the spread of peritoneal metastasis in serous ovarian cancer via promoting adhesion to the peritoneal mesothelial cells., [RefSeq, PubMed]; Expression of ali1 promotes depolarization-dependent survival of cerebellar granule neurons. Mouse ali1 mapped to a chromosome 15 locus syntenic to candidate loci for familial Alzheimer's disease type 5 and Parkinson's disease 8 on human chromosome 12., [RefSeq, PubMed]; Liver Metastasis Formation Is Defined by AMIGO2 Expression via Adhesion to Hepatic Endothelial Cells in Human Gastric and Colorectal Cancer Cells., [RefSeq, PubMed]; Required for depolarization-dependent survival of cultured cerebellar granule neurons. May mediate homophilic as well as heterophilic cell-cell interaction with AMIGO1 or AMIGO3. May contribute to signal transduction through its intracellular domain. May be required for tumorigenesis of a subset of gastric adenocarcinomas., [UniProtKB]; Stable expression of a DEGA/AMIGO-2 antisense construct led to altered morphology, increased ploidy, chromosomal instability, decreased cell adhesion/migration, and a nearly complete abrogation of tumorigenicity in nude mice., [RefSeq, PubMed]; The impact of AMIGO2 on prognosis and hepatic metastasis in gastric cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 5, "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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q4VBP6;Q7Z4A0;Q96CN8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007420 brain development;GO:0051965 positive regulation of synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;GO:0043069 negative regulation of programmed cell death", "synthesized_glycan_count": 0, "hit_score": 26.7, "record_id": "Q86SJ2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86W74-2", "uniprot_id": [ { "id": "ANR46_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86W74", "type": "external" } ], "mass": 25330.0, "length": 228, "protein_name": "Ankyrin repeat domain-containing protein 46", "gene_name": "ANKRD46", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 46 isoform 1", "refseq_ac": [ { "id": "NP_001257306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257306", "type": "external" } ], "gene_names_uniprotkb": "ANKRD46", "gene_names_refseq": "ANK-S; ANKRD46; GENX-115279", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 46; ANK-S; Ankyrin repeat small protein", "protein_names_refseq": "ankyrin repeat domain-containing protein 46 isoform 1; ankyrin repeat domain-containing protein 46; ankyrin repeat small protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:157567)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "27920218;28832583;28834231;29242379;29393594;31154438;31530632;32157095;32897882;33592498;33968037;34357683;34932366;35580925", "class_list": "", "function": "This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 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, "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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6P9B7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q86W74-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WK7-1", "uniprot_id": [ { "id": "AMGO3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WK7", "type": "external" } ], "mass": 55250.0, "length": 504, "protein_name": "Amphoterin-induced protein 3", "gene_name": "AMIGO3", "organism": "Human", "refseq_name": "amphoterin-induced protein 3 precursor", "refseq_ac": [ { "id": "NP_942015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_942015", "type": "external" } ], "gene_names_uniprotkb": "AMIGO3; ALI3; KIAA1851; PRO20089", "gene_names_refseq": "ALI3; AMIGO-3; AMIGO3", "protein_names_uniprotkb": "Amphoterin-induced protein 3; AMIGO-3; Alivin-3", "protein_names_refseq": "alivin-3; amphoterin-induced gene and ORF 3; amphoterin-induced protein 3 precursor; amphoterin-induced protein 3", "tax_id": 9606, "disease": "sciatic neuropathy (Disease Ontology:DOID:11446)", "pathway": " (hsa:386724)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10.1101/2023.09.13.557529;12629050;12975309;20307617;32502341;32938616;35051231;37217939", "class_list": "", "function": "May mediate heterophilic cell-cell interaction. May contribute to signal transduction through its intracellular domain (By similarity)., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q494V6;Q96JH6", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0010977 negative regulation of neuron projection development;GO:0007420 brain development;GO:0051965 positive regulation of synapse assembly;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q86WK7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YJ7-1", "uniprot_id": [ { "id": "AN13B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YJ7", "type": "external" } ], "mass": 70205.0, "length": 626, "protein_name": "Ankyrin repeat domain-containing protein 13B", "gene_name": "ANKRD13B", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 13B", "refseq_ac": [ { "id": "NP_689558", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689558", "type": "external" } ], "gene_names_uniprotkb": "ANKRD13B", "gene_names_refseq": "ANKRD13B", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 13B", "protein_names_refseq": "ankyrin repeat domain-containing protein 13B", "tax_id": 9606, "disease": "", "pathway": " (hsa:124930)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;22298428;26154972;27920218;28218747;28834231;28904123;29437277;29557506;30410026;31217245;31844290;32265295;32387766;32488085;33592498;36241641", "class_list": "", "function": "Overexpression of wild-type as well as truncated-mutant Ankrd 13A, 13B and 13D proteins strongly inhibited rapid endocytosis of ubiquitinated EGFR from the surface in EGF-treated cells, [RefSeq, PubMed]; Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane., [UniProtKB, 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": 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": 6, "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": "Q8N7S9", "ec_number_list": [], "go_molecular_function": "GO:0140036 ubiquitin-modified protein reader activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005770 late endosome", "go_biological_process": "GO:0002091 negative regulation of receptor internalization;GO:0048259 regulation of receptor-mediated endocytosis", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q86YJ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVJ8-1", "uniprot_id": [ { "id": "APRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVJ8", "type": "external" } ], "mass": 18525.0, "length": 170, "protein_name": "APRG1 tumor suppressor candidate", "gene_name": "APRG1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "APRG1; C3orf35", "gene_names_refseq": "", "protein_names_uniprotkb": "APRG1 tumor suppressor candidate; AP20 region protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "12543795;16187228;29331515;29557506;35051231", "class_list": "", "function": "", "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": 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": "B7ZMA0;Q8IVJ5;Q8IVJ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8IVJ8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY63-1", "uniprot_id": [ { "id": "AMOL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY63", "type": "external" } ], "mass": 106574.0, "length": 956, "protein_name": "Angiomotin-like protein 1", "gene_name": "AMOTL1", "organism": "Human", "refseq_name": "angiomotin-like protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001287936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287936", "type": "external" } ], "gene_names_uniprotkb": "AMOTL1", "gene_names_refseq": "AMOTL1; CFCHS; JEAP", "protein_names_uniprotkb": "Angiomotin-like protein 1", "protein_names_refseq": "angiomotin-like protein 1 isoform 2; angiomotin-like protein 1; junction-enriched and associated protein", "tax_id": 9606, "disease": "craniofaciocardiohepatic syndrome (MONDO:MONDO:0978295)", "pathway": " (hsa:154810); (R-HSA-2028269)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "11118213;11237011;11278283;12406577;15109305;15688006;16930133;17085597;17924679;17974916;18158288;18220336;18227151;18328708;18669648;19007248;19651622;19691289;20068231;20112406;20412773;20850437;20868367;21187284;21205866;21224387;21233212;21555462;21832154;22362771;22385262;23186163;23481700;24275569;24366607;25373897;25505266;25576301;25645385;26806348;26811146;26992070;27397612;27846572;27862975;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29769354;29786170;29789417;30315122;30375152;30429286;30779550;30833945;31092671;31154438;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33026150;33392160;33592498;33691108;33717175;33936100;33968037;34171305;34185709;34405274;34509645;35051231;35318648;35580925;36010968;36284347;36751037;37558679;37938771;8702870;9545236", "class_list": "", "function": "A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. Erratum:[Am J Med Genet A. 2023 Sep;191(9):2454-2455. doi: 10.1002/ajmg.a.63352. PMID: 37428002], [RefSeq, PubMed]; Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus., [UniProtKB, PubMed]; SRSF3/AMOTL1 splicing axis promotes the tumorigenesis of nasopharyngeal carcinoma through regulating the nucleus translocation of YAP1. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [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": 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": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q63HK7;Q8NDN0;Q8TEN8;Q8WXD1;Q96CM5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0001525 angiogenesis;GO:0035329 hippo signaling;GO:0030036 actin cytoskeleton organization;GO:0016055 Wnt signaling pathway;GO:0030334 regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q8IY63-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N283-1", "uniprot_id": [ { "id": "ANR35_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N283", "type": "external" } ], "mass": 109937.0, "length": 1001, "protein_name": "Ankyrin repeat domain-containing protein 35", "gene_name": "ANKRD35", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 35 isoform 1", "refseq_ac": [ { "id": "NP_653299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653299", "type": "external" } ], "gene_names_uniprotkb": "ANKRD35", "gene_names_refseq": "ANKRD35", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 35", "protein_names_refseq": "ankyrin repeat domain-containing protein 35 isoform 1; ankyrin repeat domain-containing protein 35", "tax_id": 9606, "disease": "", "pathway": " (hsa:148741)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;19615748;23481700;26768311;30379171;33203765;37217939", "class_list": "", "function": "Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits., [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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "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": "A6NEU0;B4DL62;Q3MJ10;Q96LS3", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8N283-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2N9-1", "uniprot_id": [ { "id": "AN36B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2N9", "type": "external" } ], "mass": 153582.0, "length": 1353, "protein_name": "Ankyrin repeat domain-containing protein 36B", "gene_name": "ANKRD36B", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 36B isoform 1", "refseq_ac": [ { "id": "NP_079466", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079466", "type": "external" } ], "gene_names_uniprotkb": "ANKRD36B", "gene_names_refseq": "ANKRD36B; KIAA1641", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 36B; CLL-associated antigen KW-1", "protein_names_refseq": "CLL-associated antigen KW-1; ankyrin repeat domain-containing protein 36B isoform 1; ankyrin repeat domain-containing protein 36B; melanoma-associated antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:57730)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;18452278;30379171;30620550;33592498;33912179;34561969;35051231;36241641;37217939", "class_list": "", "function": "", "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q08AK5;Q6IPR0;Q6PI49;Q8IZM7;Q8TDH6;Q96N30;Q9H759", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8N2N9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5A5-1", "uniprot_id": [ { "id": "ZGPAT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5A5", "type": "external" } ], "mass": 57359.0, "length": 531, "protein_name": "Zinc finger CCCH-type with G patch domain-containing protein", "gene_name": "ZGPAT", "organism": "Human", "refseq_name": "zinc finger CCCH-type with G patch domain-containing protein isoform c", "refseq_ac": [ { "id": "NP_001076582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076582", "type": "external" } ], "gene_names_uniprotkb": "ZGPAT; GPATC6; GPATCH6; KIAA1847; ZC3H9; ZC3HDC9; ZIP", "gene_names_refseq": "GPATC6; GPATCH6; KIAA1847; ZC3H9; ZC3HDC9; ZGPAT; ZIP", "protein_names_uniprotkb": "Zinc finger CCCH-type with G patch domain-containing protein; G patch domain-containing protein 6; Zinc finger CCCH domain-containing protein 9; Zinc finger and G patch domain-containing protein", "protein_names_refseq": "g patch domain-containing protein 6; zinc finger CCCH domain-containing protein 9; zinc finger CCCH-type with G patch domain-containing protein isoform c; zinc finger CCCH-type with G patch domain-containing protein; zinc finger and G patch domain-containing protein; zinc finger, CCCH-type with G patch domain", "tax_id": 9606, "disease": "", "pathway": " (hsa:84619)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;17081983;18669648;19623168;19644445;20068231;20233718;20549515;23301498;23481700;24116224;24366607;25418920;25576301;26154972;26929215;26992070;27846572;28878014;28904123;29493099;29557506;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;33981976;35051231;35580925;36010968;36241641;36284347", "class_list": "", "function": "Antagonizes the transcription repression by isoform 1 by competing for the binding of the NuRD complex. Does not bind DNA., [UniProtKB, PubMed]; Data suggest that ZIP, USP39, Prp24/p100/SART3, and Prp43 associate to form complex instrumental in spliceosome assembly; ZIP regulates pre-mRNA splicing of USP39 independent of RNA binding; stable 35S tri-snRNP particles are enriched in Cajal body. (USP39 = ubiquitin specific peptidase 39; SART3 = squamous cell carcinoma antigen recognised by T cells 3; Prp43 = RNA helicase Prp43), [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]; SZIP, an alternative splice variant of ZIP, antagonizes transcription repression and growth inhibition by ZIP in liver neoplasms., [RefSeq, PubMed]; Transcription repressor that specifically binds the 5'-GGAG[GA]A[GA]A-3' consensus sequence. Represses transcription by recruiting the chromatin multiprotein complex NuRD to target promoters. Negatively regulates expression of EGFR, a gene involved in cell proliferation, survival and migration. Its ability to repress genes of the EGFR pathway suggest it may act as a tumor suppressor. Able to suppress breast carcinogenesis., [UniProtKB, 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": 6, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P5K1;Q4VXN9;Q5JWI9;Q5JWJ0;Q8NC55;Q8WUV4;Q96JI0;Q96JU4;Q9H401", "ec_number_list": [], "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: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:0045892 negative regulation of DNA-templated transcription;GO:0007175 negative regulation of epidermal growth factor-activated receptor activity", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q8N5A5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6D5-1", "uniprot_id": [ { "id": "ANR29_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6D5", "type": "external" } ], "mass": 32442.0, "length": 301, "protein_name": "Ankyrin repeat domain-containing protein 29", "gene_name": "ANKRD29", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 29 isoform 2", "refseq_ac": [ { "id": "NP_001295167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295167", "type": "external" } ], "gene_names_uniprotkb": "ANKRD29", "gene_names_refseq": "ANKRD29", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 29", "protein_names_refseq": "ankyrin repeat domain-containing protein 29 isoform 2; ankyrin repeat domain-containing protein 29", "tax_id": 9606, "disease": "", "pathway": " (hsa:147463)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;16959974;19531498;28904123;31844290;32387766;32938616;33968037;35051231;37277814", "class_list": "", "function": "ANKRD29, as a new prognostic and immunological biomarker of non-small cell lung cancer, inhibits cell growth and migration by regulating MAPK signaling pathway. 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, "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": 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": "B2R972;Q6ZWE8;Q96LU9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N6D5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NB46-1", "uniprot_id": [ { "id": "ANR52_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NB46", "type": "external" } ], "mass": 115077.0, "length": 1076, "protein_name": "Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C", "gene_name": "ANKRD52", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C", "refseq_ac": [ { "id": "NP_775866", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775866", "type": "external" } ], "gene_names_uniprotkb": "ANKRD52", "gene_names_refseq": "ANKRD52; ARSC; PP6-ARS-C", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C; Ankyrin repeat domain-containing protein 52; PP6-ARS-C; Serine/threonine-protein phosphatase 6 regulatory subunit ARS-C", "protein_names_refseq": "ankyrin repeat domain-containing protein 52; protein phosphatase 6 ankyrin repeat subunit C; serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C; serine/threonine-protein phosphatase 6 regulatory subunit ARS-C", "tax_id": 9606, "disease": "", "pathway": " (hsa:283373)", "pathway_count": 1, "publication_count": 91, "publication_id_list": "16964243;18186651;19913121;20068231;20112406;22424782;22898188;23186163;23301498;23481700;24366607;24714562;24715725;25418920;25576301;25880248;26154972;26375851;26728094;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29539411;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33096142;33141586;33298915;33392160;33592498;33649309;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34509645;34561969;34932366;35051231;35251023;35494241;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38665916", "class_list": "", "function": "ANKRD52 condensates are not completely colocalized with ASK3 condensates, but they move around and grow while sharing their phase boundaries. Publication Status: Online-Only, [RefSeq, PubMed]; ANKRD52 mediates the PP6-ASK3 interaction and, consequently, ASK3 inactivation under hyperosmotic stress., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates., [UniProtKB]; TAZ negatively regulates the novel tumor suppressor ANKRD52 and promotes PAK1 dephosphorylation in lung adenocarcinomas., [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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NE79;B1Q2K2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q8NB46-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWZ4-1", "uniprot_id": [ { "id": "ABCAA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWZ4", "type": "external" } ], "mass": 175790.0, "length": 1543, "protein_name": "ATP-binding cassette sub-family A member 10", "gene_name": "ABCA10", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family A member 10", "refseq_ac": [ { "id": "NP_525021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_525021", "type": "external" } ], "gene_names_uniprotkb": "ABCA10", "gene_names_refseq": "ABCA10; EST698739", "protein_names_uniprotkb": "ATP-binding cassette sub-family A member 10; 7.6.2.-", "protein_names_refseq": "ATP-binding cassette A10; ATP-binding cassette sub-family A member 10; ATP-binding cassette, sub-family A (ABC1), member 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:10349); (R-HSA-1369062)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10551832;10704444;10777694;10873640;11095984;11099417;11178988;11237011;11248239;11309290;11478798;11606068;11718719;12150964;12183068;12504089;12509503;12821155;12917409;14570867;14592415;15007061;15044640;15209530;15994327;16007253;22544926;24831815;25294155;29557506;31154438;31222486;31844290;32387766;32502341;32938616;33579221;33717175;33936100;33968037;33981976;34509645;35051231;36241641;37217939;8411712;8507690;8706931;9345306", "class_list": "", "function": "A 4-gene signature predicts prognosis of uterine serous carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; ABCA10 is a novel member of the group of ABCA6-like transporters involved in macrophage lipid homeostasis, [RefSeq, PubMed]; Probable transporter which may play a role in macrophage lipid transport and homeostasis., [UniProtKB, PubMed]; Results suggest a possible role for multidrug resistance genes ABCA10 and ABCA6 in follicular lymphoma survival and add to the evidence that genetic variation in CD46 and IL8 may have prognostic implications follicular lymphoma. 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "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": "C9JZH2;C9K035;Q6PIQ6;Q7Z2I9;Q7Z7P7;Q86TD2", "ec_number_list": [ { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" } ], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0016887 ATP hydrolysis activity;GO:0140359 ABC-type transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006869 lipid transport", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q8WWZ4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92625-1", "uniprot_id": [ { "id": "ANS1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92625", "type": "external" } ], "mass": 123108.0, "length": 1134, "protein_name": "Ankyrin repeat and SAM domain-containing protein 1A", "gene_name": "ANKS1A", "organism": "Human", "refseq_name": "ankyrin repeat and SAM domain-containing protein 1A", "refseq_ac": [ { "id": "NP_056060", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056060", "type": "external" } ], "gene_names_uniprotkb": "ANKS1A; ANKS1; KIAA0229; ODIN", "gene_names_refseq": "ANKS1A; ANKS1", "protein_names_uniprotkb": "Ankyrin repeat and SAM domain-containing protein 1A; Odin", "protein_names_refseq": "Odin; ankyrin repeat and SAM domain containing 1; ankyrin repeat and SAM domain-containing protein 1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:23294)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;12439753;15345747;17322306;17389395;17875921;18088087;18452278;18669648;19413330;19415658;19651622;19664994;19664995;19690332;19901323;20058876;20068231;20230923;21406692;22332920;23186163;23301498;23481700;24275569;25645385;25892735;27600516;28649982;28904123;29242379;29557506;30379171;31217245;31373491;31844290;32157095;32387766;32488085;32938616;33298915;33392160;33592498;33912179;33968037;33981976;34171305;34509645;34932366;35051231;35251023;35318648;35580925;36010968;36241641;36284347;36717454;37938771;38123547", "class_list": "", "function": "ANKS1A regulates LDL receptor-related protein 1 (LRP1)-mediated cerebrovascular clearance in brain endothelial cells. Erratum:[Nat Commun. 2024 Apr 9;15(1):3062. doi: 10.1038/s41467-024-47249-w. PMID: 38594263] Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of different signaling pathways. Regulates EPHA8 receptor tyrosine kinase signaling to control cell migration and neurite retraction (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The Role of the Adapter Protein Anks1a in the Regulation of Breast Cancer Cell Motility., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2RUC1;B4DQW8;Q5JYI9;Q5SYR2;Q86WQ7", "ec_number_list": [], "go_molecular_function": "GO:0046875 ephrin receptor binding", "go_cellular_component": "GO:0005829 cytosol;GO:0043005 neuron projection;GO:0005737 cytoplasm;GO:0042995 cell projection", "go_biological_process": "GO:0016322 neuron remodeling;GO:0048013 ephrin receptor signaling pathway;GO:0006929 substrate-dependent cell migration", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q92625-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99996-2", "uniprot_id": [ { "id": "AKAP9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99996", "type": "external" } ], "mass": 452987.0, "length": 3907, "protein_name": "A-kinase anchor protein 9", "gene_name": "AKAP9", "organism": "Human", "refseq_name": "A-kinase anchor protein 9 isoform 2", "refseq_ac": [ { "id": "NP_005742", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005742", "type": "external" } ], "gene_names_uniprotkb": "AKAP9; AKAP350; AKAP450; KIAA0803", "gene_names_refseq": "AKAP-9; AKAP350; AKAP450; AKAP9; CG-NAP; HYPERION; LQT11; MU-RMS-40.16A; PPP1R45; PRKA9; YOTIAO", "protein_names_uniprotkb": "A-kinase anchor protein 9; A-kinase anchor protein 350 kDa; A-kinase anchor protein 450 kDa; AKAP 120-like protein; AKAP 350; AKAP 450; AKAP-9; CG-NAP; Centrosome- and Golgi-localized PKN-associated protein; PRKA9; Protein hyperion; Protein kinase A-anchoring protein 9; Protein yotiao; hgAKAP 350", "protein_names_refseq": "A kinase (PRKA) anchor protein (yotiao) 9; A kinase (PRKA) anchor protein 9; A-kinase anchor protein 350 kDa; A-kinase anchor protein 450 kDa; A-kinase anchor protein 9 isoform 2; AKAP 120-like protein; AKAP9-BRAF fusion protein; centrosome- and Golgi-localized PKN-associated protein; centrosome- and golgi-localized protein kinase N-associated protein; kinase N-associated protein; protein hyperion; protein kinase A anchoring protein 9; protein phosphatase 1, regulatory subunit 45; protein yotiao", "tax_id": 9606, "disease": "long QT syndrome 11 (Disease Ontology:DOID:0110652)", "pathway": " (hsa:10142); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5576890); (R-HSA-5576893); (R-HSA-5620912); (R-HSA-6802952); (R-HSA-8854518)", "pathway_count": 11, "publication_count": 186, "publication_id_list": "10.1101/2023.09.13.557529;10202149;10219239;10358086;10646604;11076968;11799244;11956313;12163479;12207013;12221128;12270714;12364337;12852856;13678582;14580337;14654843;15047863;15266014;15498487;15630448;15705883;16357211;16462731;16890155;16939434;16949586;16959974;17525332;17574030;17646400;17719545;18037885;18093912;18334708;18378770;18477460;18510355;18521620;18566290;18615013;18694559;18767875;18801063;18974108;19004860;19081074;19242490;19690332;19940019;20068231;20230748;20308558;20399632;20526349;20558667;21273506;21347367;21422230;21424530;21548880;21565611;21620453;21725307;21792235;21931171;22094468;22179047;22365832;22433857;22641346;22653444;22745804;23141531;23141541;23186163;23253480;23301498;23348840;23400999;23481700;23530209;23583981;23747070;23769972;23789104;23921553;24053599;24089205;24135138;24231678;24275569;24345920;24469809;24591645;24982133;25047611;25204415;25217626;25313408;25418920;25532896;25576301;25645385;25657325;25892735;25907612;25966690;27147833;27600516;27666745;27862975;27920218;28063628;28089391;28228285;28814570;28832583;28834231;29162697;29242379;29393594;29493099;29557506;29786170;29789417;30315122;30379171;30484775;30524438;30833945;31092671;31154438;31217245;31530632;31685621;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33402344;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35318648;35494241;35561310;35567427;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37938771;38203733;38657442;7586312;7769006;7790358;8838651;9230439;9482789;9915845", "class_list": "", "function": "A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein., [RefSeq, PubMed]; Alzheimer's disease associated AKAP9 I2558M mutation alters posttranslational modification and interactome of tau and cellular functions in CRISPR-edited human neuronal cells., [RefSeq, PubMed]; Associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations., [UniProtKB, PubMed]; Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid Lesions: Implications for Differential Diagnosis and Prognosis of Thyroid Carcinomas. Publication Status: Online-Only, [RefSeq, PubMed]; Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation at the cis-side of the Golgi apparatus (PubMed:15047863, PubMed:19242490). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with PDE4DIP isoform 13/MMG8/SMYLE, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension also from the centrosome to the cell periphery (PubMed:29162697)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]., [RefSeq]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 96, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A4D1F0;A4D1F2;A4D1F4;O14869;O43355;O94895;Q75N20;Q9UQH3;Q9UQQ4;Q9Y6B8;Q9Y6Y2", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003677 DNA binding;GO:0005102 signaling receptor binding;GO:0015459 potassium channel regulator activity;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0034705 potassium channel complex;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0071320 cellular response to cAMP;GO:0007268 chemical synaptic transmission;GO:0060306 regulation of membrane repolarization;GO:0086091 regulation of heart rate by cardiac conduction", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "Q99996-2", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BS18-1", "uniprot_id": [ { "id": "APC13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BS18", "type": "external" } ], "mass": 8521.0, "length": 74, "protein_name": "Anaphase-promoting complex subunit 13", "gene_name": "ANAPC13", "organism": "Human", "refseq_name": "anaphase-promoting complex subunit 13", "refseq_ac": [ { "id": "NP_001229303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229303", "type": "external" } ], "gene_names_uniprotkb": "ANAPC13", "gene_names_refseq": "ANAPC13; APC13; SWM1", "protein_names_uniprotkb": "Anaphase-promoting complex subunit 13; APC13; Cyclosome subunit 13", "protein_names_refseq": "anaphase-promoting complex subunit 13; cyclosome subunit 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:25847); (R-HSA-983168)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "11062501;11350924;12646216;14734113;15060174;15224091;15224092;15571818;16364912;16595681;16849449;16954532;18485873;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2261476;24714562;25043029;25418920;25892735;26083744;26728094;27120157;27397612;27509861;28218747;28228285;28904123;29033132;29242379;29437277;29557506;29769354;30315122;30410026;31844290;32161166;32502341;32938616;33298915;33717175;33968037;35051231;35580925;36581221;9380723;9668046", "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:15060174, 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:15060174, 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)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 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, "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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9Y3V0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "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", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9BS18-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JTC6-1", "uniprot_id": [ { "id": "AMER1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JTC6", "type": "external" } ], "mass": 124029.0, "length": 1135, "protein_name": "APC membrane recruitment protein 1", "gene_name": "AMER1", "organism": "Human", "refseq_name": "APC membrane recruitment protein 1", "refseq_ac": [ { "id": "NP_689637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689637", "type": "external" } ], "gene_names_uniprotkb": "AMER1; FAM123B; WTX", "gene_names_refseq": "AMER1; FAM123B; OSCS; WTX", "protein_names_uniprotkb": "APC membrane recruitment protein 1; Amer1; Protein FAM123B; Wilms tumor gene on the X chromosome protein", "protein_names_refseq": "APC membrane recruitment protein 1; RP11-403E24.2; Wilms tumor gene on the X chromosome protein; Wilms tumor on the X; adenomatous polyposis coli membrane recruitment 1; family with sequence similarity 123B; protein FAM123B", "tax_id": 9606, "disease": "osteopathia striata with cranial sclerosis (Disease Ontology:DOID:0060886); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:139285); (R-HSA-195253); (R-HSA-196299); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-8951664); (R-HSA-9755511)", "pathway_count": 14, "publication_count": 263, "publication_id_list": "10023660;10092233;10196136;10421629;10428961;10481074;10487827;10535940;10581160;10597293;10684251;10698523;10700176;10749138;10811609;10862053;10878807;10921899;10973499;11069780;11259415;11292861;11292862;11336703;11375957;11454738;11522655;11585840;11707456;11733065;11738041;11746989;11861647;11955436;11961546;12000790;12067995;12101228;12101426;12186903;12198130;12439748;12474228;12504025;12504026;12526791;12538644;12554650;12609982;12682069;12700136;12759363;12816948;12820959;14517290;14585973;14688281;14690597;14731402;14757770;14764894;15073180;15084453;15282312;15306667;15327769;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15681612;15688063;15694336;15735151;15799966;15983046;16082208;16171779;16286508;16341016;16341017;16359182;16401342;16547496;16647857;16707496;16753179;16790436;16890161;16943200;16962933;17081101;17132228;17143292;17183061;17183367;17204608;17220875;17318175;17332328;17497243;17510365;17512459;17529994;17569865;17785452;17925383;17979524;18077588;18093314;18206966;18238777;18273910;18281465;18311776;18339531;18362152;18452278;18606139;18632848;18669648;18720004;18757411;18775313;18776931;18805092;18826954;18851830;18926707;19061640;19079258;19107203;19237556;19250909;19321346;19413330;19416806;19617556;19619488;19748355;19760609;19802005;20227366;20378532;20452972;20495340;20843316;21183070;21183076;21220506;21248786;21252990;21304492;21391649;21447816;21463634;21498506;21734707;21778237;21863050;21940857;22101459;22215675;22306028;22438566;22466964;22537386;22761442;22789539;22872865;22959436;23074275;23092983;23186163;23201271;23256519;23274085;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23579495;23583660;23912815;23986495;24011591;24076655;24298019;24366543;24636985;24793695;24793696;25040165;25314029;25349211;25355947;25531226;25576301;25793262;25921531;26117325;26344709;26460955;26583321;26632597;26906416;26942676;26992070;27030794;27222660;27565346;28115426;28218747;28380357;28832583;29153394;29233872;29393594;29450944;29526543;30429286;30610225;31217245;31546975;31844290;32005965;32284348;32293500;32387766;32640524;32672401;32938616;32983136;33009401;33444648;33791708;33859744;33936100;33968037;35051231;36010968;37682704;8259518;8259519;8638126;8757136;9034327;9065402;9230313;9482734;9556553;9601641;9635432;9790970;9887101;9891082;9990852", "class_list": "", "function": "AMER1 deficiency promotes the distant metastasis of colorectal cancer by inhibiting SLC7A11- and FTL-mediated ferroptosis., [RefSeq, PubMed]; Data indicate that WTX mutation is rare in colorectal, gastric, and hepatocellular carcinomas., [RefSeq, PubMed]; Findings show that WTX, a protein encoded by a gene mutated in Wilms tumors, forms a complex with beta-catenin, AXIN1, beta-TrCP2 and APC; data provide a possible mechanistic explanation for the tumor suppressor activity of WTX, [RefSeq, PubMed]; Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]., [RefSeq]; WTX binds WT1 and enhances WT1-mediated transcription, suggesting a role for WTX in nuclear pathways implicated in the transcriptional regulation of cellular differentiation programs, [RefSeq, PubMed]; WTX inactivation is associated with Wilms tumors, [RefSeq, PubMed]; WTX, is inactivated in approximately one-third of Wilms tumors; it is inactivated by a monoallelic 'single-hit' event targeting the single X chromosome in tumors from males and the active X chromosome in tumors from females, [RefSeq, 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": 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": 5, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 98, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2IB86;Q8N885", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0008013 beta-catenin binding;GO:1904713 beta-catenin destruction complex binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016604 nuclear body", "go_biological_process": "GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0016055 Wnt signaling pathway;GO:0031398 positive regulation of protein ubiquitination;GO:0045732 positive regulation of protein catabolic process;GO:0060828 regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 26.4, "record_id": "Q5JTC6-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N944-1", "uniprot_id": [ { "id": "AMER3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N944", "type": "external" } ], "mass": 90445.0, "length": 861, "protein_name": "APC membrane recruitment protein 3", "gene_name": "AMER3", "organism": "Human", "refseq_name": "APC membrane recruitment protein 3", "refseq_ac": [ { "id": "NP_001098663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098663", "type": "external" } ], "gene_names_uniprotkb": "AMER3; FAM123C", "gene_names_refseq": "AMER3; FAM123C", "protein_names_uniprotkb": "APC membrane recruitment protein 3; Amer3; Protein FAM123C", "protein_names_refseq": "APC membrane recruitment protein 3; family with sequence similarity 123C; protein FAM123C", "tax_id": 9606, "disease": "", "pathway": " (hsa:205147)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;24251807;29557506;31530632;35051231;35580925;37217939;38253038", "class_list": "", "function": "Data suggest Amer3 activates Wnt signaling, in contrast to Amer1/Amer2 which inhibit Wnt, suggesting non-redundant role of Amer proteins in regulation of Wnt pathway. Knockdown of Amer3 reduces Wnt target gene expression in colorectal cancer cells., [RefSeq, PubMed]; Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane (By similarity)., [UniProtKB]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "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": "B7ZLH6", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0008013 beta-catenin binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016604 nuclear body", "go_biological_process": "GO:0016055 Wnt signaling pathway;GO:0060828 regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8N944-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23109-1", "uniprot_id": [ { "id": "AMPD1_HUMAN", "url": "https://www.uniprot.org/uniprot/P23109", "type": "external" } ], "mass": 86490.0, "length": 747, "protein_name": "AMP deaminase 1", "gene_name": "AMPD1", "organism": "Human", "refseq_name": "AMP deaminase 1 isoform 1", "refseq_ac": [ { "id": "NP_000027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000027", "type": "external" } ], "gene_names_uniprotkb": "AMPD1", "gene_names_refseq": "AMPD1; MADA; MAD; MMDD", "protein_names_uniprotkb": "AMP deaminase 1; 3.5.4.6; AMP deaminase isoform M; Myoadenylate deaminase", "protein_names_refseq": "AMP deaminase 1 isoform 1; AMP deaminase 1; AMPD; adenosine monophosphate deaminase 1 (isoform M); adenosine monophosphate deaminase-1 (muscle); myoadenylate deaminase; skeletal muscle AMPD", "tax_id": 9606, "disease": "left ventricular failure (Disease Ontology:DOID:0051064); pontocerebellar hypoplasia (Disease Ontology:DOID:0060264); coronary artery disease (Disease Ontology:DOID:3393); lung adenocarcinoma (Disease Ontology:DOID:3910); congestive heart failure (Disease Ontology:DOID:6000); myopathy due to myoadenylate deaminase deficiency (MONDO:MONDO:0014220)", "pathway": " (hsa:270); (R-HSA-74217)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11102975;11237011;11427893;12009299;1370861;1429593;1631143;16359702;16959974;18399692;2104852;21755941;218932;227870;2345176;2539852;25576301;25892735;2844225;2845866;29095874;29789417;2999129;3029074;3182793;31880188;32144205;32429460;36240223;457664;6281270;6300847;6771276;8692979;9804782;9843365;9857047", "class_list": "", "function": "AMP deaminase plays a critical role in energy metabolism., [UniProtKB, PubMed]; AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females. Publication Status: Online-Only, [RefSeq, PubMed]; Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]., [RefSeq]; The metabolic-chronotropic response is decreased in skeletal muscle MAD deficiency, suggesting a biological mechanism by which AMPD1 gene exerts cardiac effect Publication Status: Online-Only, [RefSeq, PubMed]; Ultrastructural Localization of Histidine-rich Glycoprotein in Skeletal Muscle Fibers: Colocalization With AMP Deaminase., [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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "A8K5N4;B2RAM1;F2Z3B3;Q5TF00;Q5TF02", "ec_number_list": [ { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0003876 AMP deaminase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0046033 AMP metabolic process;GO:0006188 IMP biosynthetic process;GO:0032264 IMP salvage;GO:0032263 GMP salvage", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P23109-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAB5-1", "uniprot_id": [ { "id": "CA216_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAB5", "type": "external" } ], "mass": 24968.0, "length": 229, "protein_name": "UPF0500 protein C1orf216", "gene_name": "C1orf216", "organism": "Human", "refseq_name": "UPF0500 protein C1orf216", "refseq_ac": [ { "id": "NP_001335620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335620", "type": "external" } ], "gene_names_uniprotkb": "C1orf216", "gene_names_refseq": "C1orf216", "protein_names_uniprotkb": "UPF0500 protein C1orf216", "protein_names_refseq": "UPF0500 protein C1orf216", "tax_id": 9606, "disease": "", "pathway": " (hsa:127703)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "23481700;26992070;28228285;28832583;29242379;30315122;30410026;30429286;31844290;32157095;32387766;32502341;32938616;32983136;33592498;33968037;34509645;36010968;36241641", "class_list": "", "function": "", "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": 2, "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": "D3DPS1;Q8N8N6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8TAB5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46092-1", "uniprot_id": [ { "id": "CCR10_HUMAN", "url": "https://www.uniprot.org/uniprot/P46092", "type": "external" } ], "mass": 38416.0, "length": 362, "protein_name": "C-C chemokine receptor type 10", "gene_name": "CCR10", "organism": "Human", "refseq_name": "C-C chemokine receptor type 10", "refseq_ac": [ { "id": "NP_057686", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057686", "type": "external" } ], "gene_names_uniprotkb": "CCR10; GPR2", "gene_names_refseq": "CCR10; GPR2", "protein_names_uniprotkb": "C-C chemokine receptor type 10; C-C CKR-10; CC-CKR-10; CCR-10; G protein-coupled receptor 2", "protein_names_refseq": "C-C CKR-10; C-C chemokine receptor type 10; CC chemokine receptor 10; CC-CKR-10; CCR-10; G-protein coupled receptor 2; chemokine (C-C motif) receptor 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:2826); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "10229797;10640743;10706668;10725696;10725697;10781587;10975800;11007482;11060282;11237011;12120503;12149255;12554737;12884299;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;23481700;2423119;24715725;2534964;25502872;25576301;2748346;27846572;28228285;2834384;28467828;28514659;28832583;28904123;29242379;29393594;2970963;30573663;3098319;31092671;31217245;31844290;32350084;32357974;32502341;3260265;32938616;33141586;34357683;34433824;34564853;34932366;35051231;35154160;35899992;36169116;37222480;38429844;7602097;7622448;7642634;7679328;7851889;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518", "class_list": "", "function": "Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. 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. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM, Mar 2008]., [RefSeq]; Inhibition of CCL28/CCR10-Mediated eNOS Downregulation Improves Skin Wound Healing in the Obesity-Induced Mouse Model of Type 2 Diabetes., [RefSeq, PubMed]; Inhibition of cc chemokine receptor 10 ameliorates osteoarthritis via inhibition of the phosphoinositide-3-kinase/Akt/mammalian target of rapamycin pathway. Erratum:[J Orthop Surg Res. 2025 May 14;20(1):462. doi: 10.1186/s13018-025-05807-y. PMID: 40369652] Publication Status: Online-Only, [RefSeq, PubMed]; Mucosal CCL28 Chemokine Improves Protection against Genital Herpes through Mobilization of Antiviral Effector Memory CCR10+CD44+ CD62L-CD8+ T Cells and Memory CCR10+B220+CD27+ B Cells into the Infected Vaginal Mucosa., [RefSeq, PubMed]; Receptor for chemokines SCYA27 and SCYA28. Subsequently transduces a signal by increasing the intracellular calcium ions level and stimulates chemotaxis in a pre-B cell line., [UniProtKB]; SARS-CoV2 pneumonia recovery is linked to expansion of innate lymphoid cells type 2 expressing CCR10., [RefSeq, PubMed]; The CCL27-CCR10 axis contributes to promoting proliferation, migration, and invasion of lung squamous cell carcinoma., [RefSeq, 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, "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": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4V749;Q6T7X2;Q9NZG2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled 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;GO:0016020 membrane", "go_biological_process": "GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0019722 calcium-mediated signaling;GO:0060326 cell chemotaxis", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P46092-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49674-1", "uniprot_id": [ { "id": "KC1E_HUMAN", "url": "https://www.uniprot.org/uniprot/P49674", "type": "external" } ], "mass": 47315.0, "length": 416, "protein_name": "Casein kinase I isoform epsilon", "gene_name": "CSNK1E", "organism": "Human", "refseq_name": "casein kinase I isoform epsilon", "refseq_ac": [ { "id": "NP_001885", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001885", "type": "external" } ], "gene_names_uniprotkb": "CSNK1E", "gene_names_refseq": "CKIepsilon; CKIe; CSNK1E; HCKIE", "protein_names_uniprotkb": "Casein kinase I isoform epsilon; 2.7.11.1; CKI-epsilon; CKIe", "protein_names_refseq": "casein kinase I isoform epsilon", "tax_id": 9606, "disease": "congenital adrenal hyperplasia (Disease Ontology:DOID:0050811); adrenal cortical adenoma (Disease Ontology:DOID:0050891); syndromic X-linked intellectual disability Najm type (Disease Ontology:DOID:0060807); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); glucocorticoid-remediable aldosteronism (Disease Ontology:DOID:14080); colon cancer (Disease Ontology:DOID:219); invasive ductal carcinoma (Disease Ontology:DOID:3008); brain infarction (Disease Ontology:DOID:3454); primary hyperaldosteronism (Disease Ontology:DOID:446)", "pathway": " (hsa:102800317); (hsa:1454); (R-HSA-201688); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-6791226); (R-HSA-69601); (R-HSA-8854518); (R-HSA-9931521); (R-HSA-9931530)", "pathway_count": 14, "publication_count": 198, "publication_id_list": "10.1101/2023.09.13.557529;10517632;10535959;10542239;10698942;10790862;10827953;11076968;11165242;11232563;11237011;11298456;11425858;11818547;11922599;11956313;12068309;12150911;12207013;12221128;12234927;12364337;12399544;12556519;12676583;12676925;12759351;12852856;12963847;13678582;14580337;14603323;14654843;14681206;14750904;15070676;15302935;15459103;15498487;15705883;15800623;15917222;16037817;16043514;16357211;16462731;16513652;16618118;16738141;16790549;16890155;16965538;17081983;17189298;17192257;17344846;17353269;17412707;17525164;17569865;17574030;17646400;17719545;18037885;18065403;18167338;18378770;18438418;18477386;18477460;18480045;18521620;18566290;18615013;18669648;18691976;18694559;18772438;18801063;19004860;19007248;19081074;19106111;19332556;19369195;19413330;19561074;19564402;19690332;19734889;19801658;19805222;19940019;20038530;20056613;20068230;20068231;20230748;20305697;20308558;20348946;20399632;20507565;20531386;20558667;20798176;20805244;20819938;21036871;21063389;21097556;21252624;21273506;21285348;21347367;21406692;21422230;21548880;21565611;21620453;21725307;21792235;22072790;22094468;22179047;22190735;22195017;22365832;22433857;22641346;22653444;22916032;23106386;23141531;23141541;23186163;23253480;23348840;23400999;23413191;23439679;23482395;23530209;23747070;23769972;23789104;2388630;23921553;24053599;24089205;24231678;24424021;24469809;24550520;24982133;25047611;25313408;25525153;25532896;25969445;26237581;26992070;28228285;28832583;28904123;29222110;29242379;29493099;29784789;30484775;30779550;31844290;32157095;32161166;32488085;32899434;33141586;33298915;33402344;33537174;33592498;33912179;33968037;35154160;35251023;35580925;36215666;36241641;37787983;37938771;7744250;7769006;7790358;7797465;8838651;9192851;9214626;9482744", "class_list": "", "function": "CK1epsilon drives osteogenic differentiation of bone marrow mesenchymal stem cells via activating Wnt/beta-catenin pathway., [RefSeq, PubMed]; Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates (Probable). Participates in Wnt signaling (PubMed:12556519, PubMed:23413191). Phosphorylates DVL1 (PubMed:12556519). Phosphorylates DVL2 (PubMed:23413191). Phosphorylates NEDD9/HEF1 (By similarity). Central component of the circadian clock (PubMed:16790549). In balance with PP1, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation (PubMed:15917222, PubMed:16790549). Controls PER1 and PER2 nuclear transport and degradation (By similarity). Inhibits cytokine-induced granuloytic differentiation (PubMed:15070676)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Novel Insights into the Biochemical Mechanism of CK1epsilon and its Functional Interplay with DDX3X. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [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, "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": 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": 0, "reported_phosphosites": 26, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.1.40", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "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": "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": "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.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "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:0003723 RNA binding;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:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030426 growth cone", "go_biological_process": "GO:0006281 DNA repair;GO:0006468 protein phosphorylation;GO:0006897 endocytosis;GO:0007165 signal transduction;GO:0051058 negative regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "P49674-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78424-1", "uniprot_id": [ { "id": "PO6F2_HUMAN", "url": "https://www.uniprot.org/uniprot/P78424", "type": "external" } ], "mass": 73265.0, "length": 691, "protein_name": "POU domain, class 6, transcription factor 2", "gene_name": "POU6F2", "organism": "Human", "refseq_name": "POU domain, class 6, transcription factor 2 isoform 2", "refseq_ac": [ { "id": "NP_001159490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159490", "type": "external" } ], "gene_names_uniprotkb": "POU6F2; RPF1", "gene_names_refseq": "POU6F2; RPF-1; WT5; WTSL", "protein_names_uniprotkb": "POU domain, class 6, transcription factor 2; RPF-1; Retina-derived POU domain factor 1", "protein_names_refseq": "POU domain, class 6, transcription factor 2 isoform 2; POU domain, class 6, transcription factor 2; Wilms tumor suppressor locus; retina-derived POU-domain factor-1", "tax_id": 9606, "disease": "nephroblastoma (Disease Ontology:DOID:2154); Wilms tumor 5 (MONDO:MONDO:0011112)", "pathway": " (hsa:11281)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;11284034;15459955;25576301;25645385;29113774;29370175;29557506;31217245;31692290;35051231;37600690;40596516;8601806", "class_list": "", "function": "Genomic loci were examined in the NEIGHBORHOOD database to determine if they are potential risk factors for human glaucoma identified using meta-data from human GWAS. The top 50 hits all resided within one gene (POU6F2), with the highest significance level of p = 10-6 for SNP rs76319873. POU6F2 is found in retinal ganglion cells and in corneal limbal stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Observations suggest that POU6F2 is a tumor suppressor and is involved in hereditary predisposition to Wilms tumor, [RefSeq, PubMed]; POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression. Publication Status: Online-Only, [RefSeq, PubMed]; Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bind DNA., [UniProtKB]; This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009]., [RefSeq]; We further discovered that the expression of transcription factor POU class 6 homeobox 2 (POU6F2) is restricted to Corneal endothelial cells (CECs) , and upregulated during human CEC differentiation, suggesting that POU6F2 is pivotal to terminal differentiation of CECs, [RefSeq, PubMed]; Whole-genome sequencing identified two novel somatic mutations in the POU6F2 gene (c. 839 C>T; c. 875A>G) in patients with prolactinoma. The mutations obviously decreased the expression level of POU6F2. Inhibition its activity increased the cell proliferation and PRL secretion in pituitary tumor cell line, but proliferation and PRL secretion were decreased in cells with POU6F2 overexpression., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "A4D1W2;C4AMB9;P78425;Q75ME8;Q86UM6;Q9UDS7", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0007402 ganglion mother cell fate determination;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", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P78424-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17980-1", "uniprot_id": [ { "id": "PRS6A_HUMAN", "url": "https://www.uniprot.org/uniprot/P17980", "type": "external" } ], "mass": 49204.0, "length": 439, "protein_name": "26S proteasome regulatory subunit 6A", "gene_name": "PSMC3", "organism": "Human", "refseq_name": "26S proteasome regulatory subunit 6A", "refseq_ac": [ { "id": "NP_002795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002795", "type": "external" } ], "gene_names_uniprotkb": "PSMC3; TBP1", "gene_names_refseq": "DCIDP; EBNDS; PSMC3; RPT5; TBP1", "protein_names_uniprotkb": "26S proteasome regulatory subunit 6A; 26S proteasome AAA-ATPase subunit RPT5; Proteasome 26S subunit ATPase 3; Proteasome subunit P50; TBP-1; Tat-binding protein 1", "protein_names_refseq": "26S protease regulatory subunit 6A; 26S proteasome AAA-ATPase subunit RPT5; 26S proteasome regulatory subunit 6A; Tat-binding protein 1; human immunodeficiency virus tat transactivator binding protein-1; proteasome (prosome, macropain) 26S subunit, ATPase, 3; proteasome subunit P50; testicular secretory protein Li 42", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); sensorineural hearing loss (Disease Ontology:DOID:10003); cataract (Disease Ontology:DOID:83); obesity (Disease Ontology:DOID:9970); deafness, cataract, impaired intellectual development, and polyneuropathy (MONDO:MONDO:0859159)", "pathway": " (hsa:5702); (R-HSA-1169091); (R-HSA-1234176); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-180534); (R-HSA-180585); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-211733); (R-HSA-2467813); (R-HSA-2871837); (R-HSA-349425); (R-HSA-350562); (R-HSA-382556); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-6798695); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69481); (R-HSA-69601); (R-HSA-75815); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1064, "publication_id_list": 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"class_list": "", "function": "Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC3 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides., [UniProtKB, PubMed, UniProtKB, UniProtKB]; PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production., [RefSeq, PubMed]; The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [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, "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R8V1;Q3B757;Q3B865;Q53HU5;Q6GPG8;Q6IBS1;Q96HD3", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity;GO:0036402 proteasome-activating activity", "go_cellular_component": "GO:0008540 proteasome regulatory particle, base subcomplex;GO:0022624 proteasome accessory complex;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0043921 host-mediated perturbation of viral transcription;GO:0006979 response to oxidative stress;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 106.9, "record_id": "P17980-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48552-1", "uniprot_id": [ { "id": "NRIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P48552", "type": "external" } ], "mass": 126942.0, "length": 1158, "protein_name": "Nuclear receptor-interacting protein 1", "gene_name": "NRIP1", "organism": "Human", "refseq_name": "nuclear receptor-interacting protein 1", "refseq_ac": [ { "id": "NP_003480", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003480", "type": "external" } ], "gene_names_uniprotkb": "NRIP1", "gene_names_refseq": "CAKUT3; NRIP1; RIP140", "protein_names_uniprotkb": "Nuclear receptor-interacting protein 1; Nuclear factor RIP140; Receptor-interacting protein 140", "protein_names_refseq": "nuclear factor RIP140; nuclear receptor-interacting protein 1; receptor-interacting protein 140", "tax_id": 9606, "disease": "congenital anomalies of the kidney and urinary tract 3 (Disease Ontology:DOID:0051078); congenital anomalies of the kidney and urinary tract (Disease Ontology:DOID:0080205); osteoporosis (Disease Ontology:DOID:11476)", "pathway": " (hsa:8204); (R-HSA-3899300); (R-HSA-9018519); (R-HSA-9029558); (R-HSA-9632974); (R-HSA-9707616); (R-HSA-9931509); (R-HSA-9933387)", "pathway_count": 8, "publication_count": 276, "publication_id_list": "10198158;10364267;10381560;10500157;10828826;10873660;11010967;11034064;11103799;11136970;11165043;11237011;11266503;11287605;11345900;11387216;11410592;11414710;11452016;11477070;11509661;11518808;11581164;11682626;11790787;11842083;12130498;12150977;12356737;12377782;12498683;12511571;12518032;12529333;12554755;12612073;12679040;12718889;12773562;12959972;14631847;14675539;14736873;15001666;15060175;15175654;15276198;15282324;15343269;15345050;15514030;15665827;15761026;15766567;15958389;15976810;15986123;16009131;16046058;16087863;16098147;16113099;16131398;1630819;16757475;16887930;16980581;16990259;17013392;17079232;17081986;17085477;17277772;17298944;17369852;17463000;17495528;17510434;17535915;17637753;17666587;17684114;17690249;17803295;17924679;17942393;18006707;18037887;18082607;18187655;18211901;18219272;18256232;18322535;18339323;18358809;18476782;18488044;18533032;18762174;18805503;19001364;19020303;19098913;19240082;19274700;19295514;19321454;19383337;19596686;19615980;19710360;1971514;19718048;19995069;20098713;20176810;20219941;20220130;20498280;20570965;20581824;20676127;20682797;20817722;21106759;21151129;21338522;21445275;21479263;21527249;21573489;21628546;21740066;2181374;21835891;21878914;21934649;21940756;22056668;22265404;22467880;22492511;22545144;22704330;22713328;23145106;23172872;23186163;23192763;23303788;23403292;23404503;23435229;23673342;23723241;23906331;24167369;24196956;24275569;24371278;24735615;24854081;24885040;24973012;24998469;25114211;25218447;25296600;25365482;2539258;25433557;25542856;25576301;25633194;25645385;25663755;25674852;25728767;25800734;25880248;26056233;26153859;26154972;26204489;26462610;26479350;26960196;26992070;27062924;27600516;27754849;27846572;27862975;27886276;28111073;28381549;28539435;28832583;2919170;29242379;29393594;29557506;29786170;30143558;30379171;30429286;3045126;30524438;30779550;30833945;31154438;31222486;31748741;31844290;31848261;32157095;32354867;32357974;32387766;32502341;32695117;3281094;32897882;32938616;32983136;33123756;33141586;33298915;33392160;3345742;33592498;33968037;33981976;34087483;34171305;34509645;34932366;3498214;35051231;35318648;35580925;36010968;36215666;36241641;36284347;3677090;37466171;37938771;38102728;38269483;38459621;7559524;7641693;7935485;7937828;8060328;8156598;8195246;8197458;8402897;8415693;8419924;8622974;8876171;8887638;9062340;9079689;9144434;9201922;9338790;9388265;9556573;9611253;9671459;9731700", "class_list": "", "function": "CircNRIP1 promotes proliferation, migration and phenotypic switch of Ang II-induced HA-VSMCs by increasing CXCL5 mRNA stability via recruiting IGF2BP1., [RefSeq, PubMed]; Circular RNA nuclear receptor interacting protein 1 promoted biliary tract cancer epithelial-mesenchymal transition and stemness by regulating the miR-515-5p/AKT2 axis and PI3K/AKT/mTOR signaling pathway., [RefSeq, PubMed]; Modulates transcriptional activation by steroid receptors such as NR3C1, NR3C2 and ESR1. Also modulates transcriptional repression by nuclear hormone receptors. Positive regulator of the circadian clock gene expression: stimulates transcription of BMAL1, CLOCK and CRY1 by acting as a coactivator for RORA and RORC. Involved in the regulation of ovarian function (By similarity). Plays a role in renal development (PubMed:28381549)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NRIP1 regulates cell proliferation in lung adenocarcinoma cells., [RefSeq, PubMed]; Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008]., [RefSeq]; RIP140 regulates transcription factor HES1 oscillatory expression and mitogenic activity in colon cancer cells., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8IWE8", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0005102 signaling receptor binding;GO:0003714 transcription corepressor activity;GO:0035259 nuclear glucocorticoid receptor binding;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0001543 ovarian follicle rupture;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007623 circadian rhythm", "synthesized_glycan_count": 0, "hit_score": 28.0, "record_id": "P48552-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15311-1", "uniprot_id": [ { "id": "RBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15311", "type": "external" } ], "mass": 76063.0, "length": 655, "protein_name": "RalA-binding protein 1", "gene_name": "RALBP1", "organism": "Human", "refseq_name": "ralA-binding protein 1", "refseq_ac": [ { "id": "NP_006779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006779", "type": "external" } ], "gene_names_uniprotkb": "RALBP1; RLIP1; RLIP76; RLIP", "gene_names_refseq": "RALBP1; RIP1; RLIP1; RLIP76", "protein_names_uniprotkb": "RalA-binding protein 1; 7.6.2.2; 7.6.2.3; 76 kDa Ral-interacting protein; DNP-SG ATPase; Dinitrophenyl S-glutathione ATPase; Ral-interacting protein 1; RalBP1", "protein_names_refseq": "76 kDa Ral-interacting protein; DNP-SG ATPase; dinitrophenyl S-glutathione ATPase; ral-interacting protein 1; ralA-binding protein 1", "tax_id": 9606, "disease": "microphthalmia (Disease Ontology:DOID:10629); urinary bladder cancer (Disease Ontology:DOID:11054); pancreatic adenocarcinoma (Disease Ontology:DOID:4074)", "pathway": " (hsa:10928); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 3, "publication_count": 332, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;10910768;10924126;10958683;11007481;11058585;11085924;11149925;11237011;11300797;11306516;11373293;11396949;11431473;11432776;11437348;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12775724;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15610018;15611138;15728722;15850391;15858067;15897194;16002401;16087181;16112081;16116428;16184169;16217026;16243036;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17081983;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17706599;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18088087;18218625;18220336;18249095;18347018;18363964;18396277;18426980;18578522;18653540;18669648;18707149;18786931;18835169;18838382;18929667;19269969;19413330;19494238;19605563;19651622;19664994;19664995;19673492;19690332;19713215;19934221;20068231;20166139;20230923;20400958;20460433;20679435;20696399;20810653;21148482;21406692;21454492;21542010;21565175;21613211;21685891;21730051;21822277;21865595;21989057;22004470;22096251;22298643;22319010;22407364;22461490;22475431;22571869;22608513;22645359;22734669;22970203;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23940355;24086303;24207123;24259668;24275569;24335996;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26758079;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;27920218;28028151;28114311;28196833;28218747;28228285;28825699;28832583;28834231;28860633;28904123;29089502;29242379;29331515;29358323;29382922;29437277;29508533;29557506;29786170;30061681;30410026;30429286;30524438;30853411;31844290;31871319;32157095;32203420;32502341;32897882;32938616;32983136;33091337;33298915;33717175;33968037;34171305;34357683;34932366;35051231;35580925;35998001;36284347;37633469;37926360;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9268338;9305890;9405671;9422736;9438849;9490638;9497316;9548755;9582072;9659915;9670022;9792683;9822598;9829970;9843499;9846874;9988689", "class_list": "", "function": "Abnormal interaction of Rlip with mutant APP/Abeta and phosphorylated tau reduces wild-type Rlip levels and disrupt Rlip function in Alzheimer's disease., [RefSeq, PubMed]; Could also function as a primary ATP-dependent active transporter for glutathione conjugates of electrophiles. May also actively catalyze the efflux of a wide range of substrates including xenobiotics like doxorubicin (DOX) contributing to cell multidrug resistance., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Crucial Role of RLIP76 in Promoting Glycolysis and Tumorigenesis by Stabilization of HIF-1alpha in Glioma Cells Under Hypoxia., [RefSeq, PubMed]; Multifunctional protein that functions as a downstream effector of RALA and RALB (PubMed:7673236). As a GTPase-activating protein/GAP can inactivate CDC42 and RAC1 by stimulating their GTPase activity (PubMed:7673236). As part of the Ral signaling pathway, may also regulate ligand-dependent EGF and insulin receptors-mediated endocytosis (PubMed:10910768, PubMed:12775724). During mitosis, may act as a scaffold protein in the phosphorylation of EPSIN/EPN1 by the mitotic kinase cyclin B-CDK1, preventing endocytosis during that phase of the cell cycle (PubMed:12775724). During mitosis, also controls mitochondrial fission as an effector of RALA (PubMed:21822277). Recruited to mitochondrion by RALA, acts as a scaffold to foster the mitotic kinase cyclin B-CDK1-mediated phosphorylation and activation of DNM1L (PubMed:21822277)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010]., [RefSeq]; The role of RLIP76 in oxidative stress and mitochondrial dysfunction: Evidence based on autopsy brains from Alzheimer's disease patients., [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": 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": 18, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 5, "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": "D3DUI0", "ec_number_list": [ { "id": "7.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.2", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "7.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.3", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" } ], "go_molecular_function": "GO:0042910 xenobiotic transmembrane transporter activity;GO:0005096 GTPase activator activity;GO:0005524 ATP binding;GO:0022857 transmembrane transporter activity;GO:0042626 ATPase-coupled transmembrane transporter activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0006935 chemotaxis;GO:0043087 regulation of GTPase activity;GO:0043547 positive regulation of GTPase activity;GO:0051056 regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 33.3, "record_id": "Q15311-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAX7-1", "uniprot_id": [ { "id": "MUC7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAX7", "type": "external" } ], "mass": 39159.0, "length": 377, "protein_name": "Mucin-7", "gene_name": "MUC7", "organism": "Human", "refseq_name": "mucin-7 precursor", "refseq_ac": [ { "id": "NP_001138478", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138478", "type": "external" } ], "gene_names_uniprotkb": "MUC7; MG2", "gene_names_refseq": "MG2; MUC7", "protein_names_uniprotkb": "Mucin-7; Apo-MG2; MUC-7; Salivary mucin-7", "protein_names_refseq": "MUC-7; apo-MG2; mucin 7, salivary; mucin MG2; mucin-7 precursor; mucin-7; salivary mucin-7", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:4589); (R-HSA-5083625); (R-HSA-5083632); (R-HSA-5083636); (R-HSA-5621480); (R-HSA-913709); (R-HSA-977068)", "pathway_count": 7, "publication_count": 77, "publication_id_list": "10330415;10430883;10504389;10742600;10753916;11042166;11062056;11110698;11237011;11283017;11304796;11378823;11606584;11821425;12407114;12464682;12543672;12855678;1329093;1445223;14656219;15466199;15486459;15560372;15599692;15620693;15687324;16151858;16251947;16319059;17050534;17113861;18490740;18537974;18776906;18818202;19617566;21880719;22041900;22183981;22461326;23053572;23507963;23602766;2373995;24643043;24715725;25153226;28832583;30429286;31154438;32157095;32983136;34861462;35782137;36344553;37216558;37657056;38253038;3855417;7655172;7690757;8104046;8333853;8444322;8598452;8611500;8920913;8972730;9042338;9295285;9394011;9417100;9435216;9538010;9915862;9988682", "class_list": "", "function": "Diagnostic accuracy of MUC7 expression for bladder cancer: A systematic review and meta-analysis., [RefSeq, PubMed]; MUC7 VNTR polymorphism and association with bronchial asthma in Egyptian children. Publication Status: Online-Only, [RefSeq, PubMed]; MUC7 is a salivary mucin with antimicrobial activity against bacteria and fungi., [RefSeq, PubMed]; May function in a protective capacity by promoting the clearance of bacteria in the oral cavity and aiding in mastication, speech, and swallowing. Binds P.aeruginosa pili., [UniProtKB, PubMed, PubMed, PubMed]; Mucins 5b and 7 and secretory IgA in the oral acquired pellicle of children with caries and caries-free children., [RefSeq, PubMed]; Streptococcus oralis Employs Multiple Mechanisms of Salivary Mucin Binding That Differ Between Strains. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014]., [RefSeq]", "predicted_glycosites": 10, "predicted_n_glycosites": 4, "predicted_o_glycosites": 6, "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": 6, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 10, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 1, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "Q9UCD7;Q9UCD8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0031640 killing of cells of another organism", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q8TAX7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14114-1", "uniprot_id": [ { "id": "LRP8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14114", "type": "external" } ], "mass": 105634.0, "length": 963, "protein_name": "Low-density lipoprotein receptor-related protein 8", "gene_name": "LRP8", "organism": "Human", "refseq_name": "low-density lipoprotein receptor-related protein 8 isoform 4 precursor", "refseq_ac": [ { "id": "NP_001018064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018064", "type": "external" } ], "gene_names_uniprotkb": "LRP8; APOER2", "gene_names_refseq": "APOER2; HSZ75190; LRP-8; LRP8; MCI1", "protein_names_uniprotkb": "Low-density lipoprotein receptor-related protein 8; Apolipoprotein E receptor 2; LRP-8", "protein_names_refseq": "ApoE receptor 2; low density lipoprotein receptor-related protein 8, apolipoprotein e receptor; low-density lipoprotein receptor-related protein 8 isoform 4 precursor", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); dementia (Disease Ontology:DOID:1307); coronary artery disease (Disease Ontology:DOID:3393); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); myocardial infarction, susceptibility to (MONDO:MONDO:0012039)", "pathway": " (hsa:7804); (R-HSA-432142); (R-HSA-975634)", "pathway_count": 3, "publication_count": 105, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10052934;10218790;10508213;10754332;10769148;11060341;11152697;11181758;11237011;11274389;12399018;12681505;12775720;1279089;12807892;12899622;12950167;15358783;1542003;15459198;15583000;16200213;16939223;17339487;17525477;17644776;17847002;18039658;18087047;18295589;18460466;18507396;1856611;19014918;19139408;20223215;20427281;20493228;21106934;21851338;23584533;24106281;24190977;24381170;25502872;25813380;26992070;27920218;2793848;28218747;28467828;29242379;29314611;29437277;30315122;30410026;30873003;31020640;31611695;32350084;32387766;33141586;33592498;33912179;33936100;33968037;34078123;34357683;34433824;34509645;34929721;34932366;35051231;35154160;35251023;35289036;35580925;36240223;37074911;3714052;37217939;38281682;38389136;38716730;39062513;39095394;3942763;40307207;4345202;5057882;5675424;6420172;6961410;7683668;8017323;8384721;8626535;8728311;9079678;9888420;9920938;9925661", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Semliki Forest virus., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for tick-borne encephalitis virus by mediating viral cell attachment and internalization., [UniProtKB, PubMed]; Cell surface receptor for Reelin (RELN) and apolipoprotein E (apoE)-containing ligands (PubMed:12899622, PubMed:12950167, PubMed:20223215, PubMed:30873003). LRP8 participates in transmitting the extracellular Reelin signal to intracellular signaling processes, by binding to DAB1 on its cytoplasmic tail (By similarity). Reelin acts via both the VLDL receptor (VLDLR) and LRP8 to regulate DAB1 tyrosine phosphorylation and microtubule function in neurons (By similarity). LRP8 has higher affinity for Reelin than VLDLR (By similarity). LRP8 is thus a key component of the Reelin pathway which governs neuronal layering of the forebrain during embryonic brain development (By similarity). Binds the endoplasmic reticulum resident receptor-associated protein (RAP) (By similarity). Binds dimers of beta 2-glycoprotein I and may be involved in the suppression of platelet aggregation in the vasculature (PubMed:12807892). Highly expressed in the initial segment of the epididymis, where it affects the functional expression of clusterin and phospholipid hydroperoxide glutathione peroxidase (PHGPx), two proteins required for sperm maturation (By similarity). May also function as an endocytic receptor (By similarity). Not required for endocytic uptake of SEPP1 in the kidney which is mediated by LRP2 (By similarity). Together with its ligand, apolipoprotein E (apoE), may indirectly play a role in the suppression of the innate immune response by controlling the survival of myeloid-derived suppressor cells (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; MiR-378a-5p exerts a radiosensitizing effect on CRC through LRP8/beta-catenin axis., [RefSeq, PubMed]; OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses. Publication Status: Online-Only, [RefSeq, PubMed]; Spon1+ inflammatory monocytes promote collagen remodeling and lung cancer metastasis through lipoprotein receptor 8 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia. Erratum:[Prog Neurobiol. 2024 Oct;241:102662. doi: 10.1016/j.pneurobio.2024.102662. PMID: 39294072], [RefSeq, PubMed]; The expression of ApoER2 may serve as a trait marker for major depressive disorder., [RefSeq, PubMed]; This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]., [RefSeq]", "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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 6, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B1AMT6;B1AMT7;B1AMT8;O14968;Q86V27;Q99876;Q9BR78", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0034185 apolipoprotein binding;GO:0048306 calcium-dependent protein binding;GO:0001540 amyloid-beta binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0006508 proteolysis;GO:0006629 lipid metabolic process;GO:0006897 endocytosis;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q14114-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09874-1", "uniprot_id": [ { "id": "PARP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P09874", "type": "external" } ], "mass": 113084.0, "length": 1014, "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "organism": "Human", "refseq_name": "poly [ADP-ribose] polymerase 1", "refseq_ac": [ { "id": "NP_001609", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001609", "type": "external" } ], "gene_names_uniprotkb": "PARP1; ADPRT; PPOL", "gene_names_refseq": "ADPRT 1; ADPRT1; ADPRT; ARTD1; PARP-1; PARP1; PARP; PARS; PPOL; Poly-PARP; pADPRT-1", "protein_names_uniprotkb": "Poly [ADP-ribose] polymerase 1; 2.4.2.-; 2.4.2.30; ADP-ribosyltransferase diphtheria toxin-like 1; ADPRT 1; ARTD1; DNA ADP-ribosyltransferase PARP1; NAD(+) ADP-ribosyltransferase 1; PARP-1; Poly [ADP-ribose] polymerase 1, 24-kDa form; Poly [ADP-ribose] polymerase 1, 28-kDa form; Poly [ADP-ribose] polymerase 1, 89-kDa form; Poly[ADP-ribose] synthase 1; Protein poly-ADP-ribosyltransferase PARP1", "protein_names_refseq": "ADP-ribosyltransferase (NAD+; ADP-ribosyltransferase NAD(+); ADP-ribosyltransferase diphtheria toxin-like 1; DNA ADP-ribosyltransferase PARP1; NAD(+) ADP-ribosyltransferase 1; poly (ADP-ribose) polymerase family, member 1; poly (ADP-ribose) polymerase); poly [ADP-ribose] polymerase 1; poly(ADP-ribose) synthetase; poly(ADP-ribosyl)transferase; poly[ADP-ribose] synthase 1; protein poly-ADP-ribosyltransferase PARP1", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); nephritis (Disease Ontology:DOID:10952); leiomyoma (Disease Ontology:DOID:127); Huntington's disease (Disease Ontology:DOID:12858); Parkinson's disease (Disease Ontology:DOID:14330); transient cerebral ischemia (Disease Ontology:DOID:224); asthma (Disease Ontology:DOID:2841); middle cerebral artery infarction (Disease Ontology:DOID:3525); autoimmune disease (Disease Ontology:DOID:417); liver cirrhosis (Disease Ontology:DOID:5082); borna disease (Disease Ontology:DOID:5154); ureteral obstruction (Disease Ontology:DOID:5199); stomach carcinoma (Disease Ontology:DOID:5517); congestive heart failure (Disease Ontology:DOID:6000); arthritis (Disease Ontology:DOID:848); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); type 2 diabetes mellitus (Disease Ontology:DOID:9352); bacterial meningitis (Disease Ontology:DOID:9470)", "pathway": " (hsa:142); (R-HSA-110362); (R-HSA-192814); (R-HSA-2173795); (R-HSA-3108214); (R-HSA-5685939); (R-HSA-5696394); (R-HSA-5696395); (R-HSA-5696400)", "pathway_count": 9, "publication_count": 450, "publication_id_list": "10197981;10199400;10364231;10391953;10467406;10485843;10497198;10526214;10531062;10535941;10549282;10574707;10587642;10587654;10734143;11007478;11141066;11237011;11278856;11279143;11340072;11389444;11427533;11440997;11511374;11554294;11792325;11889051;12080057;12200445;12727891;12732143;12771209;12815074;12944386;14517266;14742321;15044383;1505517;15135726;15163719;15175327;15193131;15220921;15342424;15355988;15561706;15590680;15607977;15608651;15731342;15811629;15820681;15823533;15829507;15882621;15940266;15959518;15964821;16012167;16030353;16156666;16223728;16278211;16328064;16374543;16408927;16473935;16474140;16478998;16491090;16608850;16626738;16627622;16678110;16688858;16751101;16751102;16810316;16904257;16959974;17000769;17177976;17220334;17396150;17438144;17466625;17466626;17510063;17525332;17548475;17591695;17592128;17693435;17882165;17948053;17991898;18055453;18079701;18172500;18568018;18614043;18625722;18669648;18691969;18701435;18708356;18991276;19056823;19109893;19135894;19279666;19287951;19329425;19344625;19357644;19415658;19596686;19608861;19609301;19622798;19651622;19661379;19690332;19691289;19706679;19710015;19713942;19764761;19778542;19779455;19917253;19940136;19941824;19956565;20016594;20016603;20064938;20068231;20106667;20190268;20196871;20227374;20368362;20388712;20483915;20559012;20573551;20647759;20705237;20855601;20868244;20876134;21037106;2108670;2109322;21095583;21098080;21135142;21136679;21147198;21183466;2121735;21233213;2123876;2125269;21266351;21282463;21284855;21388382;21398629;21406692;21550342;21577210;21680843;21799911;21816818;21872626;21922195;22002106;22045334;22081108;22118460;22300411;22433848;22451931;22464733;22508508;22544926;22582261;22624032;22635276;22645359;22661230;22683995;22706990;22751501;22753495;22863007;22898188;22901183;23038248;23045548;23186163;23213405;23230272;23272074;23317230;23319653;23352696;23382195;23481700;23633189;23646949;23750026;23751493;23803078;23871147;23966166;24027577;24275569;24366607;24392019;24397554;24714562;24715725;24782567;24870775;24906880;25043379;25069723;25114211;2513174;25154395;25179837;25201414;25218447;25418920;25502872;25533949;25538220;25576301;25642960;25642963;25643323;25645385;25755297;25772364;25789972;25880248;25892735;26024233;26042670;26151477;26154972;26344098;26375851;26626479;26626480;26758079;26779812;26811146;26853435;26992070;27067600;27153775;27256882;27257257;27323894;27397612;27471034;27543614;27568560;27600516;27846572;27862975;27920218;28063628;28190768;28218747;28228285;2824474;28352266;28446606;28510447;28514659;28649982;28832583;28834231;28860189;28904123;2891139;29133916;29220653;29242379;29314611;29317506;29393594;29437277;29487285;29493099;29508533;29557506;29577978;29632046;29632711;29769354;29786170;29789417;29954836;30104678;30257210;30315122;30356214;30397120;30410026;30429286;30524438;30675909;30779550;30833945;31092671;3113420;31154438;3120710;3121332;31217245;31222486;31530632;31609975;31796734;31844290;31848261;31848352;31937595;31998317;32028527;32119511;32157095;32161166;32241924;32265295;32315358;32350084;32357974;32358582;32387766;32488085;32502341;32522876;32844745;32897882;32938616;32983136;33091337;33123756;33141586;33168626;33186521;33214551;33298915;33361107;33392160;33412112;33520371;33589610;33592498;33633747;33683197;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34049076;34078123;34087483;34102106;34171305;34210965;34211107;34357683;34465625;34509645;34616022;34625544;34725712;34732825;34737271;34795260;34811483;34874266;34919819;34932366;35008409;35013556;35051231;35083852;35104452;35124853;35138101;35219381;35251023;35318648;35393539;35460603;35494241;35561310;35580925;36010968;36215666;36284347;36581221;37217939;37938771;38349410;38665916;38862269;38973255;39085882;39423262;40914422;41261216;6278323;7559382;7561757;7596430;7700386;7852410;8003475;8168482;8264597;8663274;8692841;9130708;9214649;9315851;9412458;9452416;9518481;9685411;9699634;9716411;9721847;9756909;9771713;9804757;9885291", "class_list": "", "function": "KAT6A Condensates Impair PARP1 Trapping of PARP Inhibitors in Ovarian Cancer., [RefSeq, PubMed]; Ku70 Binding to YAP Alters PARP1 Ubiquitination to Regulate Genome Stability and Tumorigenesis., [RefSeq, PubMed]; PARP-1, EpCAM, and FRalpha as potential targets for intraoperative detection and delineation of endometriosis: a quantitative tissue expression analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Poly-ADP-ribosyltransferase that mediates poly-ADP-ribosylation of proteins and plays a key role in DNA repair (PubMed:17177976, PubMed:18055453, PubMed:18172500, PubMed:19344625, PubMed:19661379, PubMed:20388712, PubMed:21680843, PubMed:22582261, PubMed:23230272, PubMed:25043379, PubMed:26344098, PubMed:26626479, PubMed:26626480, PubMed:30104678, PubMed:31796734, PubMed:32028527, PubMed:32241924, PubMed:32358582, PubMed:33186521, PubMed:34465625, PubMed:34737271). Mediates glutamate, aspartate, serine, histidine or tyrosine ADP-ribosylation of proteins: the ADP-D-ribosyl group of NAD(+) is transferred to the acceptor carboxyl group of target residues and further ADP-ribosyl groups are transferred to the 2'-position of the terminal adenosine moiety, building up a polymer with an average chain length of 20-30 units (PubMed:19764761, PubMed:25043379, PubMed:28190768, PubMed:29954836, PubMed:35393539, PubMed:7852410, PubMed:9315851). Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:33186521, PubMed:34874266). Specificity for the different amino acids is conferred by interacting factors, such as HPF1 and NMNAT1 (PubMed:28190768, PubMed:29954836, PubMed:32028527, PubMed:33186521, PubMed:33589610, PubMed:34625544, PubMed:34874266). Following interaction with HPF1, catalyzes serine ADP-ribosylation of target proteins; HPF1 confers serine specificity by completing the PARP1 active site (PubMed:28190768, PubMed:29954836, PubMed:32028527, PubMed:33186521, PubMed:33589610, PubMed:34625544, PubMed:34874266). Also catalyzes tyrosine ADP-ribosylation of target proteins following interaction with HPF1 (PubMed:29954836, PubMed:30257210). Following interaction with NMNAT1, catalyzes glutamate and aspartate ADP-ribosylation of target proteins; NMNAT1 confers glutamate and aspartate specificity (By similarity). PARP1 initiates the repair of DNA breaks: recognizes and binds DNA breaks within chromatin and recruits HPF1, licensing serine ADP-ribosylation of target proteins, such as histones (H2BS6ADPr and H3S10ADPr), thereby promoting decompaction of chromatin and the recruitment of repair factors leading to the reparation of DNA strand breaks (PubMed:17177976, PubMed:18172500, PubMed:19344625, PubMed:19661379, PubMed:23230272, PubMed:27067600, PubMed:34465625, PubMed:34874266). HPF1 initiates serine ADP-ribosylation but restricts the polymerase activity of PARP1 in order to limit the length of poly-ADP-ribose chains (PubMed:33683197, PubMed:34732825, PubMed:34795260). In addition to base excision repair (BER) pathway, also involved in double-strand breaks (DSBs) repair: together with TIMELESS, accumulates at DNA damage sites and promotes homologous recombination repair by mediating poly-ADP-ribosylation (PubMed:26344098, PubMed:30356214). Mediates the poly-ADP-ribosylation of a number of proteins, including itself, APLF, CHFR, RPA1 and NFAT5 (PubMed:17396150, PubMed:19764761, PubMed:24906880, PubMed:34049076). In addition to proteins, also able to ADP-ribosylate DNA: catalyzes ADP-ribosylation of DNA strand break termini containing terminal phosphates and a 2'-OH group in single- and double-stranded DNA, respectively (PubMed:27471034). Required for PARP9 and DTX3L recruitment to DNA damage sites (PubMed:23230272). PARP1-dependent PARP9-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites (PubMed:23230272). PARP1-mediated DNA repair in neurons plays a role in sleep: senses DNA damage in neurons and promotes sleep, facilitating efficient DNA repair (By similarity). In addition to DNA repair, also involved in other processes, such as transcription regulation, programmed cell death, membrane repair, adipogenesis and innate immunity (PubMed:15607977, PubMed:17177976, PubMed:19344625, PubMed:27256882, PubMed:32315358, PubMed:32844745, PubMed:35124853, PubMed:35393539, PubMed:35460603). Acts as a repressor of transcription: binds to nucleosomes and modulates chromatin structure in a manner similar to histone H1, thereby altering RNA polymerase II (PubMed:15607977, PubMed:22464733). Acts both as a positive and negative regulator of transcription elongation, depending on the context (PubMed:27256882, PubMed:35393539). Acts as a positive regulator of transcription elongation by mediating poly-ADP-ribosylation of NELFE, preventing RNA-binding activity of NELFE and relieving transcription pausing (PubMed:27256882). Acts as a negative regulator of transcription elongation in response to DNA damage by catalyzing poly-ADP-ribosylation of CCNT1, disrupting the phase separation activity of CCNT1 and subsequent activation of CDK9 (PubMed:35393539). Involved in replication fork progression following interaction with CARM1: mediates poly-ADP-ribosylation at replication forks, slowing fork progression (PubMed:33412112). Poly-ADP-ribose chains generated by PARP1 also play a role in poly-ADP-ribose-dependent cell death, a process named parthanatos (By similarity). Also acts as a negative regulator of the cGAS-STING pathway (PubMed:32315358, PubMed:32844745, PubMed:35460603). Acts by mediating poly-ADP-ribosylation of CGAS: PARP1 translocates into the cytosol following phosphorylation by PRKDC and catalyzes poly-ADP-ribosylation and inactivation of CGAS (PubMed:35460603). Acts as a negative regulator of adipogenesis: catalyzes poly-ADP-ribosylation of histone H2B on 'Glu-35' (H2BE35ADPr) following interaction with NMNAT1, inhibiting phosphorylation of H2B at 'Ser-36' (H2BS36ph), thereby blocking expression of pro-adipogenetic genes (By similarity). Involved in the synthesis of ATP in the nucleus, together with NMNAT1, PARG and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). Plays a role in sister chromatid cohesion by mediating ADP-ribosylation of RSMC during S phase which promotes the interaction between RSMC and CDCA5/sororin, leading to enhanced interaction of CDCA5/sororin with the cohesin complex and promotion of sister chromatid cohesion (PubMed:41261216)., [UniProtKB, 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, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Promotes AIFM1-mediated apoptosis (PubMed:33168626). This form, which translocates into the cytoplasm following cleavage by caspase-3 (CASP3) and caspase-7 (CASP7) in response to apoptosis, is auto-poly-ADP-ribosylated and serves as a poly-ADP-ribose carrier to induce AIFM1-mediated apoptosis (PubMed:33168626)., [UniProtKB, PubMed]; Promotes AIFM1-mediated apoptosis. This form, which translocates into the cytoplasm following cleavage by caspase-3 (CASP3) and caspase-7 (CASP7) in response to apoptosis, is auto-poly-ADP-ribosylated and serves as a poly-ADP-ribose carrier to induce AIFM1-mediated apoptosis., [UniProtKB, UniProtKB]; Temporal regulation of acetylation status determines PARP1 role in DNA damage response and metabolic homeostasis., [RefSeq, PubMed]; This cleavage form irreversibly binds to DNA breaks and interferes with DNA repair, promoting DNA damage-induced apoptosis., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [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, "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": 19, "reported_mutagensis": 90, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 21, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1ANJ4;Q8IUZ9", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.2.1.143", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.143", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" } ], "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0036211 protein modification process;GO:1903376 regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway;GO:1904762 positive regulation of myofibroblast differentiation;GO:0016051 carbohydrate biosynthetic process;GO:0070213 protein auto-ADP-ribosylation", "synthesized_glycan_count": 0, "hit_score": 45.3, "record_id": "P09874-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49917-1", "uniprot_id": [ { "id": "DNLI4_HUMAN", "url": "https://www.uniprot.org/uniprot/P49917", "type": "external" } ], "mass": 103971.0, "length": 911, "protein_name": "DNA ligase 4", "gene_name": "LIG4", "organism": "Human", "refseq_name": "DNA ligase 4 isoform 1", "refseq_ac": [ { "id": "NP_001091738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091738", "type": "external" } ], "gene_names_uniprotkb": "LIG4", "gene_names_refseq": "LIG4S; LIG4", "protein_names_uniprotkb": "DNA ligase 4; 6.5.1.1; DNA ligase IV; Polydeoxyribonucleotide synthase [ATP] 4", "protein_names_refseq": "DNA joinase; DNA ligase 4 isoform 1; DNA ligase IV; DNA repair enzyme; ligase IV, DNA, ATP-dependent; polydeoxyribonucleotide synthase [ATP] 4; polynucleotide ligase; sealase", "tax_id": 9606, "disease": "DNA ligase IV deficiency (Disease Ontology:DOID:0060021); severe combined immunodeficiency with sensitivity to ionizing radiation (Disease Ontology:DOID:0090012); prostate cancer (Disease Ontology:DOID:10283); pancreatic cancer (Disease Ontology:DOID:1793); high grade glioma (Disease Ontology:DOID:3070); colorectal cancer (Disease Ontology:DOID:9256); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:3981); (R-HSA-164843); (R-HSA-5693571)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "10395545;10572166;10608806;10757784;10854421;11237011;11349135;11493912;11604075;11702069;11779494;11955432;12023295;12077346;12186630;12231622;12471202;12509254;12517771;12547193;12897153;12947387;14561766;15177042;15194694;15451442;15468306;15574327;15723659;16061182;16093244;16291214;16357942;16439204;16439205;16600297;16874298;16914548;17290226;17396150;17470781;17567543;18046455;18397950;19332554;19505854;19837014;20400235;20811692;21982441;22179609;22529269;22658747;23219551;23306437;23333306;23505375;23523427;23663450;23727112;24236237;24715725;24984242;25512557;25574025;25576301;25670504;25728776;25818648;25841101;25892735;25934149;25941166;27893789;28218747;28832583;28904123;29242379;29437277;29557506;29769354;29980672;30779550;31154438;31844290;32157095;32357974;32488085;32938616;32983136;33392160;33586762;33717175;33854234;33936100;33968037;34185709;34352203;34509645;35051231;35580925;36010968;37871849;37938771;38148049;38351293;39151475;39894887;7760816;8422676;8798671;9242410;9259561;9430729;9512523;9809069;9826654", "class_list": "", "function": "Critical residues in the Ku70 von Willebrand A domain mediate Ku interaction with the LigIV-XRCC4 complex in non-homologous end-joining., [RefSeq, PubMed]; DNA ligase involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination (PubMed:12517771, PubMed:17290226, PubMed:23523427, PubMed:29980672, PubMed:33586762, PubMed:8798671, PubMed:9242410, PubMed:9809069). Catalyzes the NHEJ ligation step of the broken DNA during DSB repair by resealing the DNA breaks after the gap filling is completed (PubMed:12517771, PubMed:17290226, PubMed:9242410, PubMed:9809069). Joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction (PubMed:12517771, PubMed:17290226, PubMed:9242410, PubMed:9809069). LIG4 is mechanistically flexible: it can ligate nicks as well as compatible DNA overhangs alone, while in the presence of XRCC4, it can ligate ends with 2-nucleotides (nt) microhomology and 1-nt gaps (PubMed:17290226). Forms a subcomplex with XRCC4; the LIG4-XRCC4 subcomplex is responsible for the NHEJ ligation step and XRCC4 enhances the joining activity of LIG4 (PubMed:9242410, PubMed:9809069). Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends (PubMed:10854421). LIG4 regulates nuclear localization of XRCC4 (PubMed:24984242)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Deficiency of ligase IV leads to reduced NHEJ, accumulation of DNA damage, and can sensitize cells to cancer therapeutics., [RefSeq, PubMed]; Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct., [RefSeq, PubMed]; The Contribution of DNA Ligase 4 Polymorphisms to Colorectal Cancer., [RefSeq, PubMed]; The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]., [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": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8IY66;Q8TEU5", "ec_number_list": [ { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" } ], "go_molecular_function": "GO:0003909 DNA ligase activity;GO:0000287 magnesium ion binding;GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0016874 ligase activity", "go_cellular_component": "GO:0070419 nonhomologous end joining complex;GO:0032807 DNA ligase IV complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000793 condensed chromosome", "go_biological_process": "GO:0071897 DNA biosynthetic process;GO:0002328 pro-B cell differentiation;GO:0006297 nucleotide-excision repair, DNA gap filling;GO:0097680 double-strand break repair via classical nonhomologous end joining;GO:2001252 positive regulation of chromosome organization", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "P49917-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43360-1", "uniprot_id": [ { "id": "MAGA6_HUMAN", "url": "https://www.uniprot.org/uniprot/P43360", "type": "external" } ], "mass": 34891.0, "length": 314, "protein_name": "Melanoma-associated antigen 6", "gene_name": "MAGEA6", "organism": "Human", "refseq_name": "melanoma-associated antigen 6", "refseq_ac": [ { "id": "NP_005354", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005354", "type": "external" } ], "gene_names_uniprotkb": "MAGEA6; MAGE6", "gene_names_refseq": "CT1.6; MAGE-3b; MAGE3B; MAGE6; MAGEA6", "protein_names_uniprotkb": "Melanoma-associated antigen 6; CT1.6; Cancer/testis antigen 1.6; MAGE-6 antigen; MAGE3B antigen", "protein_names_refseq": "MAGE-6 antigen; MAGE3B antigen; cancer/testis antigen 1.6; cancer/testis antigen family 1, member 6; melanoma antigen family A, 6; melanoma antigen family A6; melanoma-associated antigen 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:4105)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;12208877;17942928;20598277;20864041;25892735;31267705;31398327;32157095;32938616;33298915;33912179;33968037;34171305;34290406;35022469;35285568;35389803;36010968;36241641;36589698;38740147;39394480;7642112;7927540;8037761", "class_list": "", "function": "Activator of ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases that acts as a repressor of autophagy (PubMed:17942928, PubMed:20864041, PubMed:31267705). May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex (PubMed:17942928, PubMed:20864041). May play a role in tumor transformation or aspects of tumor progression (PubMed:17942928, PubMed:20864041). In vitro promotes cell viability in melanoma cell lines (PubMed:17942928)., [UniProtKB, PubMed, PubMed, PubMed]; Co-expression of cancer-testis antigens of MAGE-A6 and MAGE-A11 is associated with tumor aggressiveness in patients with bladder cancer. Erratum:[Sci Rep. 2022 Feb 7;12(1):2330. doi: 10.1038/s41598-022-06282-9. PMID: 35132168] Publication Status: Online-Only, [RefSeq, PubMed]; Disease-associated bias in T helper type 1 (Th1)/Th2 CD4(+) T cell responses against MAGE-6 in HLA-DRB10401(+) patients with renal cell carcinoma or melanoma., [RefSeq, PubMed]; Knockdown of MAGE-A6 enhanced the irradiation sensitivity of non-small cell lung cancer cells by activating the AMPK pathway., [RefSeq, PubMed]; This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [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, "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": 12, "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": "A8IF93;Q6NW44", "ec_number_list": [], "go_molecular_function": "GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0010507 negative regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P43360-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19883-1", "uniprot_id": [ { "id": "FST_HUMAN", "url": "https://www.uniprot.org/uniprot/P19883", "type": "external" } ], "mass": 38007.0, "length": 344, "protein_name": "Follistatin", "gene_name": "FST", "organism": "Human", "refseq_name": "follistatin isoform FST317 precursor", "refseq_ac": [ { "id": "NP_006341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006341", "type": "external" } ], "gene_names_uniprotkb": "FST", "gene_names_refseq": "FST; FS", "protein_names_uniprotkb": "Follistatin; Activin-binding protein; FS", "protein_names_refseq": "activin-binding protein; follistatin isoform FST317 precursor", "tax_id": 9606, "disease": "restrictive dermopathy (Disease Ontology:DOID:0060762); polycystic ovary syndrome (Disease Ontology:DOID:11612)", "pathway": " (hsa:10468); (R-HSA-2473224)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11237011;11279126;11459787;11956142;12697670;15340161;15454184;15472207;1592877;16198295;16482217;17409095;18535106;18768470;19054851;19644449;20843798;23090970;24190977;24715725;25418920;26929215;28257634;29741879;31215115;3380788;34171305;37217939;37340703;37739334;38000997;38234423;38534369;38665916;38861881;7678220;8033815", "class_list": "", "function": "Elevated circulating follistatin associates with increased risk of mortality and cardiometabolic disorders., [RefSeq, PubMed]; Follistatin and follistatin-like 3 in metabolic disorders. Review article, [RefSeq, PubMed]; Follistatin is a single-chain gonadal protein that specifically inhibits follicle-stimulating hormone release. The single FST gene encodes two isoforms, FST317 and FST344 containing 317 and 344 amino acids respectively, resulting from alternative splicing of the precursor mRNA. In a study in which 37 candidate genes were tested for linkage and association with polycystic ovary syndrome (PCOS) or hyperandrogenemia in 150 families, evidence was found for linkage between PCOS and follistatin. [provided by RefSeq, Jul 2008]., [RefSeq]; Follistatin-respiratory connection predicting all-cause mortality among community-dwelling middle-to-old age individuals: Results from the I-Lan Longitudinal Study., [RefSeq, PubMed]; Low follistatin level is a causal risk factor for spontaneous abortion: a two-sample mendelian randomization study. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional regulatory protein whose primary function is to antagonize members of the transforming growth factor beta (TGF-beta) superfamily including activin, myostatin, GDF11 or bone morphogenetic proteins (BMPs). Mechanistically, binds to these ligands in the extracellular space, blocking their type II receptor-binding site to inhibit downstream signaling. Plays an essential role in muscle fiber formation and growth both by preventing the repressive effects of myostatin and through SMAD3/AKT/mTOR signaling independently of myostatin. Also promotes neural differentiation by antagonizing the action BMP4. Acts as a specific inhibitor of the biosynthesis and secretion of pituitary follicle stimulating hormone (FSH) by sequestering activin A/INHBA. On the other hand, translocates into the nucleus where it down-regulates rRNA synthesis and ribosome biogenesis to maintain cellular energy homeostasis by binding to rDNA., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Potential Utility of Urinary Follistatin as a Non-Invasive Indicator of Acute Tubular Damage in Patients with Acute Kidney Injury. 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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B5BU94;Q9BTH0", "ec_number_list": [], "go_molecular_function": "GO:0038102 activin receptor antagonist activity;GO:0043395 heparan sulfate proteoglycan binding;GO:0048185 activin binding;GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0071363 cellular response to growth factor stimulus;GO:0032926 negative regulation of activin receptor signaling pathway;GO:0002244 hematopoietic progenitor cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P19883-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JVS0-1", "uniprot_id": [ { "id": "HABP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JVS0", "type": "external" } ], "mass": 45785.0, "length": 413, "protein_name": "Intracellular hyaluronan-binding protein 4", "gene_name": "HABP4", "organism": "Human", "refseq_name": "intracellular hyaluronan-binding protein 4", "refseq_ac": [ { "id": "NP_055097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055097", "type": "external" } ], "gene_names_uniprotkb": "HABP4", "gene_names_refseq": "HABP4; IHABP-4; IHABP4; Ki-1/57; SERBP1L", "protein_names_uniprotkb": "Intracellular hyaluronan-binding protein 4; Hyaluronan-binding protein 4; IHABP-4; IHABP4; Ki-1/57 intracellular antigen", "protein_names_refseq": "chromodomain helicase DNA binding protein 3 interacting protein; intracellular antigen detected by monoclonal antibody Ki-1; intracellular hyaluronan-binding protein 4; ki-1/57 intracellular antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:22927); (R-HSA-114608)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10887182;12505151;1435334;14630798;14699138;15297306;15862299;16455055;16879614;18669648;18707149;19523114;20068231;20436279;20551049;21406692;21771594;23186163;23640497;24129315;24275569;26992070;28228285;28695742;28832583;28834231;28904123;29242379;29786170;30429286;31844290;31848261;32157095;32161166;32938616;33298915;33968037;34171305;34561969;35051231;36284347;6457647;8467233;9523163", "class_list": "glycogene", "function": "Findings suggest that Ki-1/57 is probably involved in cellular events related to RNA functions, such as pre-mRNA splicing., [RefSeq, PubMed]; Interacts with the C-terminal region of the human chromatin-remodeling factor CHD-3, [RefSeq, PubMed]; Ki-1-57 is a target of sumoylation and affects pml nuclear body formation., [RefSeq, PubMed]; Ki-1/57 is localized to several subnuclear domains, all of which have been described to splicing and other RNA processing events., [RefSeq, PubMed]; Ki-1/57 may be involved in translational regulation, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Ribosome-binding protein that promotes ribosome hibernation, a process during which ribosomes are stabilized in an inactive state and preserved from proteasomal degradation (By similarity). Acts via its association with EEF2/eEF2 factor at the A-site of the ribosome, promoting ribosome stabilization in an inactive state compatible with storage (By similarity). Plays a key role in ribosome hibernation in the mature oocyte by promoting ribosome stabilization (By similarity). Ribosomes, which are produced in large quantities during oogenesis, are stored and translationally repressed in the oocyte and early embryo (By similarity). Also binds RNA, regulating transcription and pre-mRNA splicing (PubMed:14699138, PubMed:16455055, PubMed:19523114, PubMed:21771594). Binds (via C-terminus) to poly(U) RNA (PubMed:19523114). Seems to play a role in PML-nuclear bodies formation (PubMed:28695742). Negatively regulates DNA-binding activity of the transcription factor MEF2C in myocardial cells in response to mechanical stress (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]", "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": 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": 20, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 486, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O75804;Q8WV33;Q9NYJ2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0043022 ribosome binding;GO:0061770 translation elongation factor binding;GO:0032183 SUMO binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0030578 PML body organization;GO:0033120 positive regulation of RNA splicing;GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q5JVS0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23526-1", "uniprot_id": [ { "id": "SAHH_HUMAN", "url": "https://www.uniprot.org/uniprot/P23526", "type": "external" } ], "mass": 47716.0, "length": 432, "protein_name": "Adenosylhomocysteinase", "gene_name": "AHCY", "organism": "Human", "refseq_name": "adenosylhomocysteinase isoform 1", "refseq_ac": [ { "id": "NP_000678", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000678", "type": "external" } ], "gene_names_uniprotkb": "AHCY; SAHH", "gene_names_refseq": "AHCY; SAHH; adoHcyase", "protein_names_uniprotkb": "Adenosylhomocysteinase; 3.13.2.1; AdoHcyase; S-adenosyl-L-homocysteine hydrolase", "protein_names_refseq": "S-adenosyl-L-homocysteine hydrolase; S-adenosylhomocysteine hydrolase; adenosylhomocysteinase isoform 1; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (Disease Ontology:DOID:0111039); abdominal aortic aneurysm (Disease Ontology:DOID:7693); pyridoxine deficiency anemia (Disease Ontology:DOID:8455); hyperhomocysteinemia (Disease Ontology:DOID:9279); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:191); (R-HSA-156581); (R-HSA-1614635); (R-HSA-2408508); (R-HSA-5578997)", "pathway_count": 5, "publication_count": 127, "publication_id_list": "10.1101/2023.09.13.557529;10331075;10514445;10644686;10933798;10978155;11511179;11578145;12163696;12590576;13981612;1483038;15024124;15241484;15788214;16037612;16267626;16407288;16408927;16444005;16736098;16872278;17081065;1711890;17451884;18211827;18230605;18457970;18539146;19177456;20164179;20305658;20383543;20852937;21193388;22424782;22544926;22959829;23186163;23301498;2339986;24366607;24715725;24734162;25576301;25645385;2574561;25880248;2596825;26095522;26154972;26375851;26853435;26992070;27570878;28647132;28904123;29192674;29437277;29557506;30315122;30379171;30397120;30410026;30429286;30573663;30779550;30833945;31217245;31222486;31530632;31844290;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33968037;33981976;34019948;34087483;34171305;34211107;34326469;34357683;34405274;34509645;34725712;35051231;35083852;35138101;35154160;35251023;35561310;35580925;36010968;36215666;36240223;36241641;37580540;37938771;38003292;38064408;38665916;40596516;40914422;6456763;7305945;7608178;7786017;8968737;9175157;9586999", "class_list": "", "function": "Catalyzes the hydrolysis of S-adenosyl-L-homocysteine to form adenosine and homocysteine (PubMed:10933798). Binds copper ions (By similarity)., [UniProtKB, UniProtKB, PubMed]; Effects of S-Adenosylhomocysteine Hydrolase Downregulation on Wnt Signaling Pathway in SW480 Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Genomic and transcriptomic profiling of hepatoid adenocarcinoma of the stomach., [RefSeq, PubMed]; Inhibition of AHCY impedes proliferation and differentiation of mouse and human adipocyte progenitor cells., [RefSeq, PubMed]; Metabolic profiling stratifies colorectal cancer and reveals adenosylhomocysteinase as a therapeutic target., [RefSeq, PubMed]; S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 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, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K307;B3KUN3;E1P5P2;F5H737;Q96A36", "ec_number_list": [ { "id": "3.13.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.13.2.1", "type": "external" } ], "go_molecular_function": "GO:0004013 adenosylhomocysteinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0042470 melanosome", "go_biological_process": "GO:0006730 one-carbon metabolic process;GO:0033353 S-adenosylmethionine cycle", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "P23526-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60903-1", "uniprot_id": [ { "id": "S10AA_HUMAN", "url": "https://www.uniprot.org/uniprot/P60903", "type": "external" } ], "mass": 11203.0, "length": 97, "protein_name": "Protein S100-A10", "gene_name": "S100A10", "organism": "Human", "refseq_name": "protein S100-A10", "refseq_ac": [ { "id": "NP_002957", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002957", "type": "external" } ], "gene_names_uniprotkb": "S100A10; ANX2LG; CAL1L; CLP11", "gene_names_refseq": "42C; ANX2LG; ANX2L; CAL1L; CLP11; Ca[1]; GP11; P11; S100A10; p10", "protein_names_uniprotkb": "Protein S100-A10; Calpactin I light chain; Calpactin-1 light chain; Cellular ligand of annexin II; S100 calcium-binding protein A10; p10 protein; p11", "protein_names_refseq": "S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11)); annexin II ligand, calpactin I, light polypeptide; annexin II tetramer (AIIt) p11 subunit; calpactin I light chain; calpactin-1 light chain; cellular ligand of annexin II; protein S100-A10", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:6281); (R-HSA-75205)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "12007600;134998;1386341;1533380;17666018;18083107;1829461;1831433;1846368;18991276;19608861;20068231;2156852;2166055;2318848;23193360;23301498;23483454;2440681;24900876;2496749;2503541;2521625;2544876;25576301;25645385;26154972;26992070;27600516;27846572;28832583;2935528;29437277;29493099;29557506;2962641;3011081;3023326;30429286;30484775;3090045;31222486;31844290;32157095;32357974;32387766;32488085;32938616;32983136;33214551;33298915;33537174;33592498;33936100;33968037;33981976;34019948;34087483;34185709;34357683;34509645;35051231;35083852;35318648;35579448;35580925;36010968;36215666;36241641;36284347;36631249;37217939;37313814;37844241;37938771;38665916;39071160;6433976;6448849;7199524;9414276;9886297", "class_list": "", "function": "Accumulation of annexin A2 and S100A10 prevents apoptosis of apically delaminated, transformed epithelial cells., [RefSeq, PubMed]; Because S100A10 induces the dimerization of ANXA2/p36, it may function as a regulator of protein phosphorylation in that the ANXA2 monomer is the preferred target (in vitro) of tyrosine-specific kinase., [UniProtKB]; S100 calcium-binding protein A10 contributes to malignant traits in osteosarcoma cells by regulating glycolytic metabolism via the AKT/mTOR pathway., [RefSeq, PubMed]; S100A10 promotes HCC development and progression via transfer in extracellular vesicles and regulating their protein cargos., [RefSeq, PubMed]; S100A10 promotes cancer metastasis via recruitment of MDSCs within the lungs. Publication Status: Online-Only, [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 may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]., [RefSeq]; [S100A10 promotes proliferation and invasion of lung adenocarcinoma cells by activating the Akt-mTOR signaling pathway]., [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "A8K4V8;P08206;Q5T1C5", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0048306 calcium-dependent protein binding;GO:0044325 transmembrane transporter binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0010756 positive regulation of plasminogen activation;GO:0043547 positive regulation of GTPase activity;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0072659 protein localization to plasma membrane;GO:0051496 positive regulation of stress fiber assembly", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P60903-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q59EK9-1", "uniprot_id": [ { "id": "RUN3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q59EK9", "type": "external" } ], "mass": 49747.0, "length": 446, "protein_name": "RUN domain-containing protein 3A", "gene_name": "RUNDC3A", "organism": "Human", "refseq_name": "RUN domain-containing protein 3A isoform 1", "refseq_ac": [ { "id": "NP_001138297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138297", "type": "external" } ], "gene_names_uniprotkb": "RUNDC3A; RAP2IP; RPIP8", "gene_names_refseq": "RAP2IP; RPIP-8; RPIP8; RUNDC3A", "protein_names_uniprotkb": "RUN domain-containing protein 3A; RPIP-8; Rap2-interacting protein 8", "protein_names_refseq": "RUN domain-containing protein 3A isoform 1; RUN domain-containing protein 3A; RaP2 interacting protein 8; rap2-interacting protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:10900)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "26811146;28904123;29393594;30410026;32938616;34932366;35051231;35494241;9523700", "class_list": "", "function": "May act as an effector of RAP2A in neuronal cells., [UniProtKB]", "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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R974;O15483;O60651;Q7Z3S2;Q9UF50", "ec_number_list": [], "go_molecular_function": "GO:0030695 GTPase regulator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007264 small GTPase-mediated signal transduction;GO:0046068 cGMP metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q59EK9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14160-3", "uniprot_id": [ { "id": "SCRIB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14160", "type": "external" } ], "mass": 177724.0, "length": 1655, "protein_name": "Protein scribble homolog", "gene_name": "SCRIB", "organism": "Human", "refseq_name": "protein scribble homolog isoform b", "refseq_ac": [ { "id": "NP_056171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056171", "type": "external" } ], "gene_names_uniprotkb": "SCRIB; CRIB1; KIAA0147; LAP4; SCRB1; VARTUL", "gene_names_refseq": "CRIB1; SCRB1; SCRIB1; SCRIB; Vartul; oSCRIB", "protein_names_uniprotkb": "Protein scribble homolog; Protein LAP4; Scribble; hScrib", "protein_names_refseq": "protein scribble homolog isoform b; protein scribble homolog; scribbled homolog; scribbled planar cell polarity protein", "tax_id": 9606, "disease": "benign neoplasm (Disease Ontology:DOID:0060072); cancer (Disease Ontology:DOID:162); kidney cancer (Disease Ontology:DOID:263); carcinoma (Disease Ontology:DOID:305); neural tube defects, susceptibility to (MONDO:MONDO:0020705)", "pathway": " (hsa:23513); (R-HSA-4608870); (R-HSA-9013148); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9696264); (R-HSA-9696270)", "pathway_count": 7, "publication_count": 299, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10664463;10699171;10699464;10724160;10873802;10967094;11007481;11027293;11058585;11085924;11149925;11185749;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11940653;11948177;12071859;12093360;12096337;12172552;12195014;12221096;12242347;12244061;12351724;12432077;12456725;12464619;12531887;12547822;12650940;12724779;12773384;12842009;12857875;12860998;12877655;12907671;14506234;14512443;14681682;14710229;14732713;15023524;15064355;15107133;15133129;15144186;15147912;15157669;15182672;15260990;15302923;15304341;15342493;15485661;15546864;15601624;15611138;15649318;15710388;15728722;15738000;15775968;15806148;15850391;15897194;15937478;15975580;16112081;16116428;16137684;16184169;16217026;16344308;16481321;16519628;16611247;16630611;16687519;16714282;16777452;16777849;16862148;16896804;16965391;16968698;17064668;17077126;17081983;17145773;17196961;17214551;17244649;17599059;17702745;17765681;17804252;17932950;17976533;18042258;18045877;18056264;18218625;18220336;18363964;18426980;18641685;18653540;18669648;18716323;18786931;18835169;18838382;18929667;18996843;19041750;19136556;19258391;19369195;19379695;19386766;19555689;19605563;19690332;19713215;19934221;20068231;20622900;20679435;20811643;21148482;21406692;21454492;21542010;21565175;21613211;21685891;21849460;21865595;21983142;21989057;22004470;22095531;22096251;22298643;22461490;22480440;22571869;22608513;22970203;22971344;23029280;23140627;23186163;23200924;23255595;23301498;23359326;23406282;23434736;23535009;23572525;23718289;24086303;24259668;24275569;24297911;24335996;24352656;24355937;24584464;24690281;24933155;24996924;25024229;25211221;25678704;25704760;25721503;25795300;25862245;25888806;25963737;26101221;26129894;26299518;26529257;26598554;26887924;26969432;27096001;27145964;27216196;27380321;27481945;27555588;27600516;27798618;27920218;28028151;28063628;28169360;28196833;28218747;28228285;28825699;28832583;28834231;28860633;29242379;29314611;29351928;29393594;29632046;29786170;30061681;30315122;30379171;30524438;30779550;30853411;31092671;31154438;31530632;31848261;31871319;31937595;31998317;32119511;32161166;32203420;32302585;33214551;33730553;34019948;34725712;35670457;37589075;38665916;38920638;39279492;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8643598;8649376;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9659915;9670022;9674432;9829970;9843499;9846874;9857026", "class_list": "", "function": "An interaction between OTULIN and SCRIB uncovers roles for linear ubiquitination in planar cell polarity., [RefSeq, PubMed]; Degradation by human papilloma virus E6 may cause progressive decrease of hScrib expression during disease progression from low-grade squamous intraepithelial lesions (SIL) to high-grade SIL, [RefSeq, PubMed]; HScrib is a functional homologue of DmScrib and therefore predict an important role for hScrib in the suppression of mammalian tumorigenesis, [RefSeq, PubMed]; KIAA0147 encodes the human homolog of Drosophila Scribble. hScrib is targeted for ubiquitin-mediated degradation by the HPV E6 oncoprotein, and mutations in Dros. scrib result in loss of polarity and growth control of epithelial cells., [RefSeq, PubMed]; Moderate SCRIB Expression Levels Correlate with Worse Prognosis in OPSCC Patients Regardless of HPV Status. Publication Status: Online-Only, [RefSeq, PubMed]; Scaffold protein involved in different aspects of polarized cell differentiation regulating epithelial and neuronal morphogenesis and T-cell polarization (PubMed:15182672, PubMed:16344308, PubMed:16965391, PubMed:18641685, PubMed:18716323, PubMed:19041750, PubMed:27380321). Via its interaction with CRTAM, required for the late phase polarization of a subset of CD4+ T-cells, which in turn regulates TCR-mediated proliferation and IFNG and IL22 production (By similarity). Plays a role in cell directional movement, cell orientation, cell sheet organization and Golgi complex polarization at the cell migration front (By similarity). Promotes epithelial cell layer barrier function via maintaining cell-cell adhesion (By similarity). Most probably functions in the establishment of apico-basal cell polarity (PubMed:16344308, PubMed:19041750). May function in cell proliferation regulating progression from G1 to S phase and as a positive regulator of apoptosis for instance during acinar morphogenesis of the mammary epithelium (PubMed:16965391, PubMed:19041750). May regulate cell invasion via MAPK-mediated cell migration and adhesion (PubMed:18641685, PubMed:18716323). May play a role in exocytosis and in the targeting of synaptic vesicles to synapses (PubMed:15182672). Functions as an activator of Rac GTPase activity (PubMed:15182672)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB]; The water channels aquaporin-1 and aquaporin-3 interact with and affect the cell polarity protein Scribble in 3D in vitro models of breast cancer., [RefSeq, PubMed]; This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 42, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6P496;Q7Z5D1;Q8WWV8;Q96C69;Q96GG1", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0045296 cadherin binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0035748 myelin sheath abaxonal region;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0060603 mammary gland duct morphogenesis;GO:0016080 synaptic vesicle targeting;GO:0035089 establishment of apical/basal cell polarity;GO:0098887 neurotransmitter receptor transport, endosome to postsynaptic membrane;GO:0008283 cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 30.5, "record_id": "Q14160-3", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99619-1", "uniprot_id": [ { "id": "SPSB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99619", "type": "external" } ], "mass": 28630.0, "length": 263, "protein_name": "SPRY domain-containing SOCS box protein 2", "gene_name": "SPSB2", "organism": "Human", "refseq_name": "SPRY domain-containing SOCS box protein 2", "refseq_ac": [ { "id": "NP_001139788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139788", "type": "external" } ], "gene_names_uniprotkb": "SPSB2; GRCC9; SSB2", "gene_names_refseq": "GRCC9; SPSB2; SSB2", "protein_names_uniprotkb": "SPRY domain-containing SOCS box protein 2; Gene-rich cluster protein C9; SSB-2", "protein_names_refseq": "SPRY domain-containing SOCS box protein 2; SPRY domain-containing SOCS box protein SSB-2; gene-rich cluster protein C9", "tax_id": 9606, "disease": "", "pathway": " (hsa:84727); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 142, "publication_id_list": "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;15537541;15571818;15572695;15574592;15601820;15601839;15652483;15688063;15694336;15713673;15799966;16171779;16401342;16498413;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;19617556;19748355;19851334;19874575;19940261;20561531;21199876;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;28832583;29153394;29242379;30610225;31344133;31530632;32005965;32284348;33444648;33862200;34171305;35580925;39894887;9074930;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Results demonstrated that cellular factor SPSB2 interacts with and decreases viral protein NS5A to inhibit HCV replication. SPSBP2 interacts with the HCV protein NS5A via its SPRY domain and inhibits HCV replication by ubiquitination and degradation of NS5A. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis for the regulation of inducible nitric oxide synthase by the SPRY domain-containing SOCS box protein SPSB2, an E3 ubiquitin ligase., [RefSeq, PubMed]; Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820, PubMed:21199876). Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2 (PubMed:21199876). Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5 (PubMed:21199876)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of a subfamily of proteins containing a central SPRY (repeats in splA and RyR) domain and a C-terminal suppressor of cytokine signaling (SOCS) box. This protein plays a role in cell signaling. This gene is present in a gene-rich cluster on chromosome 12p13 in the vicinity of the CD4 antigen and triosephosphate isomerase genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [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": 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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "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": "B7Z4W1;D3DUT0", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "Q99619-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16385-1", "uniprot_id": [ { "id": "SSX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16385", "type": "external" } ], "mass": 21620.0, "length": 188, "protein_name": "Protein SSX2", "gene_name": "SSX2B; SSX2", "organism": "Human", "refseq_name": "protein SSX2 isoform b", "refseq_ac": [ { "id": "NP_001157889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157889", "type": "external" } ], "gene_names_uniprotkb": "SSX2B; SSX2; SSX2A", "gene_names_refseq": "CT5.2b; CT5.2; HOM-MEL-40; SSX2B; SSX", "protein_names_uniprotkb": "Protein SSX2; CT5.2; Cancer/testis antigen 5.2; Synovial sarcoma, X breakpoint 2; Tumor antigen HOM-MEL-40", "protein_names_refseq": "cancer/testis antigen 5.2; cancer/testis antigen family 5, member 2b; protein SSX2 isoform b; protein SSX2; synovial sarcoma, X breakpoint 2B; tumor antigen HOM-MEL-40", "tax_id": 9606, "disease": "", "pathway": " (hsa:6757); (hsa:727837)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "12007189;19524620;20068231;21904219;23186163;25645385;30484775;30815394;31114908;32157095;32314731;34270940;35874702;36211805;36591871;38509571;7495284;7539744;7655467;7951320", "class_list": "", "function": "Could act as a modulator of transcription., [UniProtKB]; SS18-SSX Expression in a Contemporary Cohort of Primary Renal Synovial Sarcoma: A Multi-Institutional Experience of Fourteen Patients., [RefSeq, PubMed]; The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 6757, located about 45 kb upstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013]., [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": 3, "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": "Q16404;Q5JS26;Q96IP7;Q9BU88", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q16385-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46439-1", "uniprot_id": [ { "id": "GSTM5_HUMAN", "url": "https://www.uniprot.org/uniprot/P46439", "type": "external" } ], "mass": 25675.0, "length": 218, "protein_name": "Glutathione S-transferase Mu 5", "gene_name": "GSTM5", "organism": "Human", "refseq_name": "glutathione S-transferase Mu 5", "refseq_ac": [ { "id": "NP_000842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000842", "type": "external" } ], "gene_names_uniprotkb": "GSTM5", "gene_names_refseq": "GSTM5-5; GSTM5; GTM5", "protein_names_uniprotkb": "Glutathione S-transferase Mu 5; 2.5.1.18; GST class-mu 5; GSTM5-5", "protein_names_refseq": "GST class-mu 5; S-(hydroxyalkyl)glutathione lyase M5; epididymis secretory sperm binding protein; glutathione S-alkyltransferase M5; glutathione S-aralkyltransferase M5; glutathione S-aryltransferase M5; glutathione S-transferase M5; glutathione S-transferase Mu 5", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); hypertension (Disease Ontology:DOID:10763); uterine fibroid (Disease Ontology:DOID:13223); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2949); (R-HSA-156590)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10329152;10587441;10783391;11237011;11327815;11904223;12042665;12211029;12627223;14742434;16081649;16298388;16548513;20083122;20085333;21106529;21668448;22522127;23162467;26992070;27090790;29437277;29557506;30429286;31154438;31844290;32387766;33141586;33717175;3372534;33802702;35729618;3770744;4768551;8182750;8203914;8331657;8431482;8473333;8703034;8812420;9278457;9551553;9839448", "class_list": "", "function": "Aberrant expression of GSTM5 in lung adenocarcinoma is associated with DNA hypermethylation and poor prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; Anti-Cancer Effects and Tumor Marker Role of Glutathione S-Transferase Mu 5 in Human Bladder Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles., [UniProtKB, PubMed]; Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "A8K0V8;Q6PD78", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "5.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.2", "type": "external" }, { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "1.20.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.20.4.2", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" } ], "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P46439-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35240-1", "uniprot_id": [ { "id": "MERL_HUMAN", "url": "https://www.uniprot.org/uniprot/P35240", "type": "external" } ], "mass": 69690.0, "length": 595, "protein_name": "Merlin", "gene_name": "NF2", "organism": "Human", "refseq_name": "merlin isoform 1", "refseq_ac": [ { "id": "NP_000259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000259", "type": "external" } ], "gene_names_uniprotkb": "NF2; SCH", "gene_names_refseq": "ACN; BANF; NF2; SCH; SWNV; merlin-1", "protein_names_uniprotkb": "Merlin; Moesin-ezrin-radixin-like protein; Neurofibromin-2; Schwannomerlin; Schwannomin", "protein_names_refseq": "bilateral acoustic neurofibromatosis; merlin isoform 1; merlin; moesin-ezrin-radixin like; moesin-ezrin-radixin-like protein; moesin-ezrin-radizin-like protein; neurofibromin 2 (bilateral acoustic neuroma); neurofibromin-2; schwannomerlin; schwannomin", "tax_id": 9606, "disease": "vestibular schwannomatosis (Disease Ontology:DOID:0111252); otitis media (Disease Ontology:DOID:10754); coloboma (Disease Ontology:DOID:12270); acoustic neuroma (Disease Ontology:DOID:12689); malignant mesothelioma (Disease Ontology:DOID:1790); epilepsy (Disease Ontology:DOID:1826); neurilemmoma (Disease Ontology:DOID:3192); meningioma (Disease Ontology:DOID:3565); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); familial meningioma (Disease Ontology:DOID:4586); hepatocellular carcinoma (Disease Ontology:DOID:684); malignant pleural mesothelioma (Disease Ontology:DOID:7474); choledochal cyst (Disease Ontology:DOID:899); gastrointestinal stromal tumor (Disease Ontology:DOID:9253); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:4771); (R-HSA-2029482); (R-HSA-5627123)", "pathway_count": 3, "publication_count": 189, "publication_id_list": "10047984;10090912;10092231;10219243;10401006;10470034;10496324;10559936;10639334;10669747;10724160;10748018;10781580;10790209;10861283;10878810;10975528;10995437;11157975;11231582;11237011;11276226;11278486;11329366;11340081;11553796;11719502;11747816;11782491;11804587;11827459;11829459;11854399;11856822;12055636;12105426;12136076;12189515;12198493;12213210;12235133;12453877;12709270;12743368;14580336;14676198;14724586;14981079;15000491;15040784;15378014;15452139;15541357;15598747;15657136;16204230;16247032;16262445;16267393;16324214;16546099;16641196;16702231;16854367;16880808;16959974;17081983;17175165;17188549;17202194;17308335;17566081;17891137;17989580;17998937;18071304;18332868;18361411;18391171;18477386;18669648;18829550;18835652;19141242;19144871;19262146;19289088;19295124;19513348;19651622;19691289;19741094;19955216;20068231;20074368;20159598;20159599;20178741;20444238;20445339;20890305;21098037;21167305;21419341;21750658;22105362;22325036;23161543;23186163;24166499;24356468;24859002;24882693;25043298;25576301;26045165;26154972;26481443;26811146;26992070;27285107;27600516;27846572;27920218;28514659;28832583;28904123;28919412;28972170;29557506;29632046;29786170;30315122;30379171;30410026;30779550;3079756;31154438;31530632;31844290;31848261;32157095;32387766;32897882;32938616;33368671;33981976;34171305;34509645;35051231;35580925;37217939;37938771;3839510;38613194;38641672;38953724;38967126;39005234;7559638;7666400;7759081;7848918;7913580;7951231;8004107;8012353;8081368;8107774;8162073;8230593;8379998;8453669;8566958;8655144;8698340;8809042;8986718;9430655;9535855;9600938;9643284;9683637;9705280;9799231;9817927;9843499;9883880;9885284", "class_list": "", "function": "Acquired NF2 mutation confers resistance to TRK inhibition in an ex vivo LMNA::NTRK1-rearranged soft-tissue sarcoma cell model., [RefSeq, PubMed]; NF2 regulates IP3R-mediated Ca[2+] signal and apoptosis in meningiomas., [RefSeq, PubMed]; Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; TRIM65/NF2/YAP1 Signaling Coordinately Orchestrates Metabolic and Immune Advantages in Hepatocellular Carcinoma., [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]; The molecular biology of NF2/Merlin on tumorigenesis and development. Review article, [RefSeq, PubMed]; This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that link cytoskeletal components with proteins in the cell membrane. The encoded protein is involved in regulation of contact-dependent inhibition of cell proliferation and functions in cell-cell adhesion and transmembrane signaling. The encoded protein has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics, and proteins involved in regulating ion transport. Disruption of this protein's function has been implicated in tumorigenesis and metastasis. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. [provided by RefSeq, May 2022]., [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": 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": 14, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95683;Q8WUJ2;Q969N0;Q969Q3;Q96T30;Q96T31;Q96T32;Q96T33;Q9BTW3;Q9UNG9;Q9UNH3;Q9UNH4", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005178 integrin binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005769 early endosome", "go_biological_process": "GO:1902966 positive regulation of protein localization to early endosome;GO:0035330 regulation of hippo signaling;GO:1902115 regulation of organelle assembly;GO:0008285 negative regulation of cell population proliferation;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 19.2, "record_id": "P35240-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54792-1", "uniprot_id": [ { "id": "DVLP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P54792", "type": "external" } ], "mass": 73254.0, "length": 670, "protein_name": "Putative segment polarity protein dishevelled homolog DVL1P1", "gene_name": "DVL1P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "DVL1P1; DVL1L1; DVL1; DVL", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative segment polarity protein dishevelled homolog DVL1P1; DSH homolog 1-like; Dishevelled-1-like; Segment polarity protein dishevelled homolog DVL-1-like", "protein_names_refseq": "", "tax_id": 9606, "disease": "DiGeorge syndrome (Disease Ontology:DOID:11198); neurodegenerative disease (Disease Ontology:DOID:1289); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": "", "pathway_count": 0, "publication_count": 9, "publication_id_list": "25645385;27600516;28228285;28649982;28834231;29437277;30315122;30429286;8644734", "class_list": "", "function": "May play a role in the signal transduction pathway mediated by multiple Wnt genes., [UniProtKB]", "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": 0, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007507 heart development;GO:0035556 intracellular signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0060070 canonical Wnt signaling pathway;GO:0060071 Wnt signaling pathway, planar cell polarity pathway", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P54792-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16649-1", "uniprot_id": [ { "id": "NFIL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16649", "type": "external" } ], "mass": 51472.0, "length": 462, "protein_name": "Nuclear factor interleukin-3-regulated protein", "gene_name": "NFIL3", "organism": "Human", "refseq_name": "nuclear factor interleukin-3-regulated protein", "refseq_ac": [ { "id": "NP_001276928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276928", "type": "external" } ], "gene_names_uniprotkb": "NFIL3; E4BP4; IL3BP1", "gene_names_refseq": "E4BP4; IL3BP1; NF-IL3A; NFIL3A; NFIL3", "protein_names_uniprotkb": "Nuclear factor interleukin-3-regulated protein; E4 promoter-binding protein 4; Interleukin-3 promoter transcriptional activator; Interleukin-3-binding protein 1; Transcriptional activator NF-IL3A", "protein_names_refseq": "E4 promoter-binding protein 4; adenovirus E4 promoter region binding protein; interleukin-3 promoter transcriptional activator; interleukin-3-binding protein 1; nuclear factor interleukin-3-regulated protein; transcriptional activator NF-IL3A", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); severe acute respiratory syndrome (Disease Ontology:DOID:2945)", "pathway": " (hsa:4783)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10942106;1620116;17081983;18452278;18669648;18991276;19651622;19691289;20068231;23186163;23481700;24062447;24714562;25114211;25218447;25576301;25755297;25772364;26992070;27600516;27846572;27862975;27920218;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29786170;30429286;30524438;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33141586;33592498;33936100;33968037;33981976;34087483;34171305;34211107;34932366;35051231;35580925;36010968;36215666;36241641;36284347;37741601;37933872;37938771;38193973;38382670;39175280;7565758;8836190", "class_list": "", "function": "A Potential Role of NFIL3 in Atherosclerosis. Review article, [RefSeq, PubMed]; Acts as a transcriptional regulator that recognizes and binds to the sequence 5'-[GA]TTA[CT]GTAA[CT]-3', a sequence present in many cellular and viral promoters. Represses transcription from promoters with activating transcription factor (ATF) sites. Represses promoter activity in osteoblasts (By similarity). Represses transcriptional activity of PER1 (By similarity). Represses transcriptional activity of PER2 via the B-site on the promoter (By similarity). Activates transcription from the interleukin-3 promoter in T-cells. Competes for the same consensus-binding site with PAR DNA-binding factors (DBP, HLF and TEF) (By similarity). Component of the circadian clock that acts as a negative regulator for the circadian expression of PER2 oscillation in the cell-autonomous core clock (By similarity). Protects pro-B cells from programmed cell death (By similarity). Represses the transcription of CYP2A5 (By similarity). Positively regulates the expression and activity of CES2 by antagonizing the repressive action of NR1D1 on CES2 (By similarity). Required for the development of natural killer cell precursors (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Knockdown of NFIL3 modulates the AMPK pathway to suppress excessive cell proliferation, inflammation, and migration in rheumatoid arthritis., [RefSeq, PubMed]; NFIL3 aggravates human coronary artery endothelial cell injury by promoting ITGAM transcription in Kawasaki disease., [RefSeq, PubMed]; Structural basis for specific DNA sequence recognition by the transcription factor NFIL3., [RefSeq, PubMed]; The protein encoded by this gene is a transcriptional regulator that binds as a homodimer to activating transcription factor (ATF) sites in many cellular and viral promoters. The encoded protein represses PER1 and PER2 expression and therefore plays a role in the regulation of circadian rhythm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014]., [RefSeq]; The role of basic leucine zipper transcription factor E4BP4 in cancer: a review and update. Review article 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, "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": 6, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9Y8;Q14211;Q6FGQ8;Q96HS0", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA 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;GO:0000785 chromatin", "go_biological_process": "GO:0001779 natural killer cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006955 immune response;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q16649-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60763-1", "uniprot_id": [ { "id": "USO1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60763", "type": "external" } ], "mass": 107895.0, "length": 962, "protein_name": "General vesicular transport factor p115", "gene_name": "USO1", "organism": "Human", "refseq_name": "general vesicular transport factor p115 isoform 2", "refseq_ac": [ { "id": "NP_003706", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003706", "type": "external" } ], "gene_names_uniprotkb": "USO1; VDP", "gene_names_refseq": "P115; TAP; USO1; VDP", "protein_names_uniprotkb": "General vesicular transport factor p115; Protein USO1 homolog; TAP; Transcytosis-associated protein; Vesicle-docking protein", "protein_names_refseq": "USO1 vesicle docking protein homolog; general vesicular transport factor p115 isoform 2; general vesicular transport factor p115; transcytosis associated protein; vesicle docking protein p115", "tax_id": 9606, "disease": "", "pathway": " (hsa:8615); (R-HSA-162658); (R-HSA-204005); (R-HSA-6807878)", "pathway_count": 4, "publication_count": 248, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10747087;10761932;10788476;10825291;10903204;10921873;10982397;11035026;11035033;11172815;11238451;11285137;11306556;11408587;11447294;11461920;11689559;11703931;11726511;11739401;11748249;11927603;12047556;12070132;12235121;12388752;12634853;12695496;12839990;14533739;14654841;14742712;15037235;15616190;15632110;15678101;15728195;15813748;15878873;16030262;16303754;1631136;16495487;16533948;16624868;16633337;16723730;1680566;16912714;16926190;16940185;17005010;17038314;17081983;17182854;17192411;17253781;17274799;17287728;17316621;17360540;17429068;17451557;17562788;17684057;17760859;17927562;17956946;18086915;18167358;18182008;18283113;18318008;18385516;18434598;18524849;18809720;18843296;1898986;19015319;1902553;19109418;19164740;19247479;19296914;19454686;1957170;19608861;19631211;19638414;19651986;19656848;19690332;19758564;20068231;20083603;20214750;20357002;20427317;20545907;20637885;20679433;20937827;20966969;21219331;21406692;21478858;21532587;21689688;21844168;22013193;22094269;22157747;22304919;22424782;22675024;22726585;23186163;23301498;23378591;23479643;23481700;23698585;23839779;23864707;24119662;24366607;24806965;24917561;25202031;25406594;25418920;25436559;25492864;25576301;25586378;25619252;25645385;25880248;26154972;26811146;26898451;26992070;27090790;27600516;27726376;27846572;27862975;27920218;28063628;28228285;28467828;28832583;28834231;28855257;28860189;28904123;29242379;29317506;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30397120;30429286;30524438;30779550;30833945;31154438;31530632;31844290;31848261;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34162911;34171305;34185709;34293111;34357683;34509645;34561969;34725712;34932366;35051231;35251023;35561310;35580925;36010968;36284347;38665916;41350704;7691276;7737117;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8663406;8991093;9094723;9114004;9150144;9177194;9244307;9288971;9307973;9323141;9380700;9382863;9405360;9478999;9490716;9647643;9671725;9751720;9753325;9990005", "class_list": "", "function": "Focused CRISPR-Cas9 genetic screening reveals USO1 as a vulnerability in B-cell acute lymphoblastic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; General vesicular transport factor required for intercisternal transport in the Golgi stack; it is required for transcytotic fusion and/or subsequent binding of the vesicles to the target membrane. May well act as a vesicular anchor by interacting with the target membrane and holding the vesicular and target membranes in proximity., [UniProtKB, UniProtKB]; The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]; USO1 gene may be a promising target for the therapy of human multiple myeloma and its diagnosis marker., [RefSeq, PubMed]; USO1 isoforms differentially promote liver cancer progression by dysregulating the ER-Golgi network., [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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 13, "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": "B2RAQ0;Q6PK63;Q86TB8;Q8N592", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0061025 membrane fusion;GO:0045056 transcytosis;GO:0048211 Golgi vesicle docking", "synthesized_glycan_count": 0, "hit_score": 25.1, "record_id": "O60763-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBP7-1", "uniprot_id": [ { "id": "PCSK9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBP7", "type": "external" } ], "mass": 74286.0, "length": 692, "protein_name": "Proprotein convertase subtilisin/kexin type 9", "gene_name": "PCSK9", "organism": "Human", "refseq_name": "proprotein convertase subtilisin/kexin type 9 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_777596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777596", "type": "external" } ], "gene_names_uniprotkb": "PCSK9; NARC1; PSEC0052", "gene_names_refseq": "FH3; FHCL3; HCHOLA3; LDLCQ1; NARC-1; NARC1; PC9; PCSK9", "protein_names_uniprotkb": "Proprotein convertase subtilisin/kexin type 9; 3.4.21.-; NARC-1; Neural apoptosis-regulated convertase 1; PC9; Proprotein convertase 9; Subtilisin/kexin-like protease PC9", "protein_names_refseq": "convertase subtilisin/kexin type 9 preproprotein; neural apoptosis regulated convertase 1; proprotein convertase subtilisin/kexin type 9 isoform 1 preproprotein; subtilisin/kexin-like protease PC9", "tax_id": 9606, "disease": "familial hypercholesterolemia (Disease Ontology:DOID:13810); hypobetalipoproteinemia (Disease Ontology:DOID:1390); hypercholesterolemia, autosomal dominant, 3 (MONDO:MONDO:0011369)", "pathway": " (hsa:255738); (R-HSA-381426); (R-HSA-8866427); (R-HSA-8957275); (R-HSA-8964038)", "pathway_count": 5, "publication_count": 166, "publication_id_list": "10.1101/2023.09.13.557529;10026136;10077652;10218588;10224102;10438503;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11584272;11606061;11739083;11751371;11788658;12221107;12241545;12379487;12464675;12466191;12552133;12730697;12810533;12904166;1370451;1383255;14622975;15126567;15166224;15265030;15308688;15469690;15485880;15525596;15642270;16179341;16465619;16912035;17018531;17047378;17081983;1718995;17249697;17312271;17452316;17461796;17502100;17971861;17985932;18039658;18197702;18280815;18498363;18644789;18649882;18660751;18669648;18702456;18772377;18782767;18799458;19020338;19141679;19191301;19196236;19319977;19520913;19563754;19592704;19664994;19930098;20068231;20427281;20947831;21149300;21273557;21406692;21734303;21943799;22027821;22074827;22095935;221835;22417841;22493497;22510808;22580899;22764087;22898188;22936343;23090970;23186163;24190977;24715725;2476804;2479552;24808179;24868095;25699256;25915661;26091039;26474739;2722848;27893789;28970592;29393594;29508533;29557506;29699916;30429286;30653992;31611695;31949048;32161166;32350084;32488085;32938616;33307067;33866776;33968037;33981976;34070931;34171305;35051231;35251023;35580925;36215666;36241641;39074621;39138259;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8049197;8112342;8146180;8407899;8781553;8817670;8894645;8964575;9497324;9705237;9709957;9733769;9756920;9786878;9922210", "class_list": "", "function": "Contrasting effects of intracellular and extracellular human PCSK9 on inflammation, lipid alteration and cell death. Publication Status: Online-Only, [RefSeq, PubMed]; Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments (PubMed:18039658). Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes to the cell surface or direct it to lysosomes for degradation. Can induce ubiquitination of LDLR leading to its subsequent degradation (PubMed:17461796, PubMed:18197702, PubMed:18799458, PubMed:22074827). Inhibits intracellular degradation of APOB via the autophagosome/lysosome pathway in a LDLR-independent manner. Involved in the disposal of non-acetylated intermediates of BACE1 in the early secretory pathway (PubMed:18660751). Inhibits epithelial Na(+) channel (ENaC)-mediated Na(+) absorption by reducing ENaC surface expression primarily by increasing its proteasomal degradation. Regulates neuronal apoptosis via modulation of LRP8/APOER2 levels and related anti-apoptotic signaling pathways., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PCSK9 Biology and Its Role in Atherothrombosis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; PCSK9 gene variations in the clinical setting of premature cardiovascular disease: A critical appraisal., [RefSeq, PubMed]; PCSK9: Associated with cardiac diseases and their risk factors? Review article, [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 encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 0, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8T640;C0JYY9;Q5PSM5;Q5SZQ2", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.4.21.112", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.112", "type": "external" }, { "id": "3.1.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.98", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "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": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "2.4.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.145", "type": "external" } ], "go_molecular_function": "GO:0030547 signaling receptor inhibitor activity;GO:0019871 sodium channel inhibitor activity;GO:0003723 RNA binding;GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0001889 liver development;GO:0008203 cholesterol metabolic process;GO:0032869 cellular response to insulin stimulus;GO:0001822 kidney development;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "Q8NBP7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LR2-1", "uniprot_id": [ { "id": "LURA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LR2", "type": "external" } ], "mass": 25806.0, "length": 239, "protein_name": "Leucine rich adaptor protein 1", "gene_name": "LURAP1", "organism": "Human", "refseq_name": "leucine rich adaptor protein 1", "refseq_ac": [ { "id": "NP_001013633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013633", "type": "external" } ], "gene_names_uniprotkb": "LURAP1; C1orf190; LRAP35A; LRP35A", "gene_names_refseq": "C1orf190; LRAP35a; LRP35A; LURAP1", "protein_names_uniprotkb": "Leucine rich adaptor protein 1; Leucine repeat adapter protein 35A", "protein_names_refseq": "NF-kappa-B activator C1orf190; leucine repeat adapter protein 35A; leucine repeat adaptor protein 35a; leucine rich adaptor protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:541468)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "19369195;21048106;34525355", "class_list": "", "function": "Acts as an activator of the canonical NF-kappa-B pathway and drive the production of pro-inflammatory cytokines. Promotes the antigen (Ag)-presenting and priming function of dendritic cells via the canonical NF-kappa-B pathway (PubMed:21048106). In concert with MYO18A and CDC42BPA/CDC42BPB, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. Activates CDC42BPA/CDC42BPB and targets it to actomyosin through its interaction with MYO18A, leading to MYL9/MLC2 phosphorylation and MYH9/MYH10-dependent actomyosin assembly in the lamella (By similarity)., [UniProtKB, PubMed, UniProtKB]; C1orf190 can activate NF-kappaB, drive production of cytokines, and promote the antigen-presenting function and priming ability of dendritic cells., [RefSeq, PubMed]; Cyclical phosphorylation of LRAP35a and CLASP2 by GSK3beta and CK1delta regulates EB1-dependent MT dynamics in cell migration., [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": 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": 4, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0001819 positive regulation of cytokine production;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96LR2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13010-1", "uniprot_id": [ { "id": "XRCC5_HUMAN", "url": "https://www.uniprot.org/uniprot/P13010", "type": "external" } ], "mass": 82705.0, "length": 732, "protein_name": "DNA repair protein Ku80", "gene_name": "XRCC5", "organism": "Human", "refseq_name": "DNA repair protein Ku80", "refseq_ac": [ { "id": "NP_066964", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066964", "type": "external" } ], "gene_names_uniprotkb": "XRCC5; G22P2", "gene_names_refseq": "KARP-1; KARP1; KU80; KUB2; Ku86; NFIV; XRCC5", "protein_names_uniprotkb": "DNA repair protein Ku80; 4.2.99.18; 5.6.2.4; 86 kDa subunit of Ku antigen; ATP-dependent DNA helicase 2 subunit 2; ATP-dependent DNA helicase II 80 kDa subunit; CTC box-binding factor 85 kDa subunit; CTC85; CTCBF; DNA repair protein XRCC5; Ku80; Ku86; Lupus Ku autoantigen protein p86; Nuclear factor IV; TLAA; Thyroid-lupus autoantigen; X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining); X-ray repair cross-complementing protein 5", "protein_names_refseq": "86 kDa subunit of Ku antigen; ATP-dependent DNA helicase 2 subunit 2; ATP-dependent DNA helicase II 80 kDa subunit; CTC box-binding factor 85 kDa subunit; CTC85; CTCBF; DNA repair protein Ku80; DNA repair protein XRCC5; Ku autoantigen, 80kDa; Ku86 autoantigen related protein 1; TLAA; X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining); X-ray repair cross-complementing protein 5; lupus Ku autoantigen protein p86; nuclear factor IV; thyroid-lupus autoantigen", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); squamous cell carcinoma (Disease Ontology:DOID:1749); rectum cancer (Disease Ontology:DOID:1993); basal cell carcinoma (Disease Ontology:DOID:2513); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:7520); (R-HSA-164843); (R-HSA-1834949); (R-HSA-3270619); (R-HSA-5693571); (R-HSA-6798695)", "pathway_count": 6, "publication_count": 257, "publication_id_list": "10026262;10572166;10757784;11035028;11237011;11493912;11604075;11702069;11839743;11862315;11955432;12023295;12077346;12124871;12133833;12145306;12186630;12231622;12509254;12692549;12897153;12947387;14561766;14704337;14978097;15023334;15075319;15177042;15210742;1537839;15451442;15468306;15561718;15574327;15723659;15758953;16061182;16093244;16281057;16291214;16306936;16439204;16439205;16600297;16874298;16914548;1700287;17290226;17353262;17396150;17470781;17483521;17526488;18046455;18397950;18452278;18818105;18991276;19158675;19158676;19158679;19307177;19433799;19505854;19608861;19609254;19631370;19776740;19926846;20383123;21398614;22002106;2211668;2212941;22179609;22266820;22394562;22424782;22442688;22529269;22544926;22579474;22619329;22645359;2308937;23186163;23213405;23251783;23301498;23306437;23333306;23388631;23481700;23505375;23650620;23689425;23719902;23727112;23972994;24029068;24098118;24236237;24275569;24366607;24560620;24598253;24610814;24714562;24715725;25114211;25418920;25469497;25512557;25574025;25576301;25645385;25670504;25802875;25810538;25818648;25841101;25852083;25880248;25892735;25941166;26024233;26030138;26154972;26359349;26375851;26502055;26728094;26768311;26811146;26853435;26992070;27063109;27397612;27452731;2760028;27600516;27601299;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28712728;28832583;28834231;28904123;28959974;29226073;29242379;29317506;29331515;29393594;29437277;29490055;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30397120;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31611695;31733588;31844290;31848261;31937595;31998317;32103174;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33854234;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34352203;34357683;34509645;34561969;34725712;34846842;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35545041;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37429610;37728466;37938771;38219597;38665916;39990658;40914422;7882982;7957065;8031790;8422676;8605992;8621488;8692836;9259561;9430729;9512523;9742108;9826654", "class_list": "", "function": "DNA-binding protein critical for the DNA damage response, specifically in repairing double-strand breaks (DSBs) via the classical non-homologous end joining (NHEJ) pathway. It forms a heterodimer with XRCC6 (Ku70), creating the Ku70:Ku80 heterodimer (Ku complex), which serves as a DNA end-binding complex. It primarily binds DSBs and recruits essential repair factors, assembling the core long-range NHEJ complex to facilitate the alignment and ligation of broken DNA ends (PubMed:11493912, PubMed:33854234, PubMed:34352203). This pathway ensures the rapid repair of cytotoxic and mutagenic DSBs and contributes to the generation of diversity in T-cell receptors and antibodies through mechanisms such as V(D)J recombination (PubMed:9742108). Likely acts as a 5'-deoxyribose-5-phosphate lyase (5'-dRP lyase), catalyzing the beta-elimination of the 5'-deoxyribose-5-phosphate at abasic sites near DSBs. This activity cleans the termini of abasic sites, a common form of nucleotide damage, preparing broken ends for ligation (PubMed:20383123). It may also possess 3'-5' DNA helicase activity, although this has not been confirmed in vivo, and its physiological significance remains unclear (PubMed:7957065). Beyond DNA repair, the protein contributes to telomere maintenance (PubMed:29490055). It is also implicated in transcriptional regulation, acting as a cofactor for various transcription factors (PubMed:12145306, PubMed:8621488). It plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). Can also bind RNAs and recruits PRKDC to a wide range of cellular RNAs, including the U3 small nucleolar RNA, playing a role in the biogenesis of ribosomal RNAs (PubMed:32103174)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Ku80 is indispensable for repairing DNA double-strand breaks at highly methylated sites in human HCT116 cells., [RefSeq, PubMed]; Nuclear expression of Ku70/80 is associated with CHEK2 germline mutations in breast cancer., [RefSeq, PubMed]; RUSC1-AS1 promotes the malignant progression of breast cancer depending on the regulation of the miR-326/XRCC5 pathway., [RefSeq, PubMed]; The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [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, "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K3X5;Q0Z7V0;Q4VBQ5;Q53HH7;Q7M4N0;Q9UCQ0;Q9UCQ1", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.357", "type": "external" }, { 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}, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0043138 3'-5' DNA helicase activity;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0070419 nonhomologous end joining complex;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0032204 regulation of telomere maintenance;GO:1904430 negative regulation of t-circle formation;GO:0006310 DNA recombination;GO:0006351 DNA-templated transcription;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 26.2, "record_id": "P13010-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q09472-1", "uniprot_id": [ { "id": "EP300_HUMAN", "url": "https://www.uniprot.org/uniprot/Q09472", "type": "external" } ], "mass": 264161.0, "length": 2414, "protein_name": "Histone acetyltransferase p300", "gene_name": "EP300", "organism": "Human", "refseq_name": "histone acetyltransferase p300 isoform 1", "refseq_ac": [ { "id": "NP_001420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001420", "type": "external" } ], "gene_names_uniprotkb": "EP300; P300", "gene_names_refseq": "EP300; KAT3B; MKHK2; RSTS2; p300", "protein_names_uniprotkb": "Histone acetyltransferase p300; 2.3.1.-; 2.3.1.48; E1A-associated protein p300; Histone butyryltransferase p300; Histone crotonyltransferase p300; Protein 2-hydroxyisobutyryltransferase p300; Protein isonicotinyltransferase p300; Protein lactyltransferas p300; Protein propionyltransferase p300; p300 HAT", "protein_names_refseq": "E1A binding protein p300; E1A-associated protein p300; E1A-binding protein, 300kD; histone acetyltransferase p300 isoform 1; histone acetyltransferase p300; histone butyryltransferase p300; histone crotonyltransferase p300; p300 HAT; protein 2-hydroxyisobutyryltransferase p300; protein isonicotinyltransferase p300; protein lactyltransferas p300; protein propionyltransferase p300", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); cardiomyopathy (Disease Ontology:DOID:0050700); cardiac arrest (Disease Ontology:DOID:0060319); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114); alcohol use disorder (Disease Ontology:DOID:1574); Rubinstein-Taybi syndrome (Disease Ontology:DOID:1933); transient cerebral ischemia (Disease Ontology:DOID:224); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); glomerulonephritis (Disease Ontology:DOID:2921); breast carcinoma (Disease Ontology:DOID:3459); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); diabetic retinopathy (Disease Ontology:DOID:8947); systemic lupus erythematosus (Disease Ontology:DOID:9074); colorectal cancer (Disease Ontology:DOID:9256); Menke-Hennekam syndrome 2 (MONDO:MONDO:0020769)", "pathway": " (hsa:2033); (R-HSA-1234158); (R-HSA-156711); (R-HSA-1912408); (R-HSA-1989781); (R-HSA-201722); (R-HSA-210744); (R-HSA-2122947); (R-HSA-2173796); (R-HSA-2197563); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-3134973); (R-HSA-3214847); (R-HSA-3371568); (R-HSA-381340); (R-HSA-3899300); (R-HSA-5250924); (R-HSA-5617472); (R-HSA-5621575); (R-HSA-5689901); (R-HSA-6804114); (R-HSA-6804758); (R-HSA-6804760); (R-HSA-6811555); (R-HSA-8866907); (R-HSA-8936459); (R-HSA-8939243); (R-HSA-8941856); (R-HSA-8941858); (R-HSA-8951936); (R-HSA-9013508); (R-HSA-9013695); (R-HSA-9018519); (R-HSA-9029569); (R-HSA-9031628); (R-HSA-918233); (R-HSA-933541); (R-HSA-9614657); (R-HSA-9616222); (R-HSA-9617629); (R-HSA-9701898); (R-HSA-9707616); (R-HSA-9735871); (R-HSA-9759194); (R-HSA-9793380); (R-HSA-9818026); (R-HSA-9818027); (R-HSA-9818028); (R-HSA-9818030); (R-HSA-9818032); (R-HSA-9818035); (R-HSA-9818749); (R-HSA-9819196); (R-HSA-9833109); (R-HSA-9839394); (R-HSA-9841922); (R-HSA-9856649); (R-HSA-9909649); (R-HSA-9931509); (R-HSA-9933387); (R-HSA-9943962); (R-HSA-9976102)", "pathway_count": 63, "publication_count": 1314, "publication_id_list": 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"class_list": "", "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. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein., [UniProtKB, PubMed, PubMed]; CREB-binding protein/P300 bromodomain inhibition reduces neutrophil accumulation and activates antitumor immunity in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a histone acetyltransferase and regulates transcription via chromatin remodeling (PubMed:23415232, PubMed:23934153, PubMed:40240600, PubMed:8945521). Acetylates all four core histones in nucleosomes (PubMed:23415232, PubMed:23934153, PubMed:8945521). Histone acetylation gives an epigenetic tag for transcriptional activation (PubMed:23415232, PubMed:23934153, PubMed:8945521). Mediates acetylation of histone H3 at 'Lys-122' (H3K122ac), a modification that localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability (PubMed:23415232). Mediates acetylation of histone H3 at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac, respectively) (PubMed:21131905, PubMed:23911289). Also able to acetylate histone lysine residues that are already monomethylated on the same side chain to form N6-acetyl-N6-methyllysine (Kacme), an epigenetic mark of active chromatin associated with increased transcriptional initiation (PubMed:37731000). Catalyzes formation of histone H4 acetyl-methylated at 'Lys-5' and 'Lys-12' (H4K5acme and H4K12acme, respectively) (PubMed:37731000). In response to DNA damage, catalyzes acetylation of histone H1 at 'Lys-75' (H1K75ac) following histone H1 deamidation by CTPS1, increasing chromatin accessibility to facilitate the recruitment of DNA repair proteins (PubMed:40240600). Also functions as acetyltransferase for non-histone targets, such as ALX1, HDAC1, PRDM16, PRMT1, SIRT2, STAT3, ZNF76 or GLUL (PubMed:12929931, PubMed:15653507, PubMed:16285960, PubMed:16337145, PubMed:16762839, PubMed:18722353, PubMed:18782771, PubMed:26990986). Acetylates 'Lys-131' of ALX1 and acts as its coactivator (PubMed:12929931). Acetylates SIRT2 and is proposed to indirectly increase the transcriptional activity of p53/TP53 through acetylation and subsequent attenuation of SIRT2 deacetylase function (PubMed:18722353). Following DNA damage, forms a stress-responsive p53/TP53 coactivator complex with JMY which mediates p53/TP53 acetylation, thereby increasing p53/TP53-dependent transcription and apoptosis (PubMed:11511361, PubMed:15448695). Promotes chromatin acetylation in heat shock responsive HSP genes during the heat shock response (HSR), thereby stimulating HSR transcription (PubMed:18451878). Acetylates HDAC1 leading to its inactivation and modulation of transcription (PubMed:16762839). Acetylates 'Lys-247' of EGR2 (By similarity). Acts as a TFAP2A-mediated transcriptional coactivator in presence of CITED2 (PubMed:12586840). Plays a role as a coactivator of NEUROD1-dependent transcription of the secretin and p21 genes and controls terminal differentiation of cells in the intestinal epithelium. Promotes cardiac myocyte enlargement (PubMed:14752053). Can also mediate transcriptional repression. Acetylates FOXO1 and enhances its transcriptional activity (PubMed:15890677). Acetylates STAT3 at different sites, promoting both STAT3 dimerization and activation and recruitment to chromatin (PubMed:15653507, PubMed:16285960, PubMed:18782771). Acetylates BCL6 which disrupts its ability to recruit histone deacetylases and hinders its transcriptional repressor activity (PubMed:12402037). Participates in CLOCK or NPAS2-regulated rhythmic gene transcription; exhibits a circadian association with CLOCK or NPAS2, correlating with increase in PER1/2 mRNA and histone H3 acetylation on the PER1/2 promoter (PubMed:14645221). Acetylates MTA1 at 'Lys-626' which is essential for its transcriptional coactivator activity (PubMed:16617102). Acetylates XBP1 isoform 2; acetylation increases protein stability of XBP1 isoform 2 and enhances its transcriptional activity (PubMed:20955178). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates MEF2D (PubMed:21030595). Acetylates and stabilizes ZBTB7B protein by antagonizing ubiquitin conjugation and degradation, this mechanism may be involved in CD4/CD8 lineage differentiation (PubMed:20810990). Acetylates GABPB1, impairing GABPB1 heterotetramerization and activity (By similarity). Acetylates PCK1 and promotes PCK1 anaplerotic activity (PubMed:30193097). Acetylates RXRA and RXRG (PubMed:17761950). Acetylates isoform M2 of PKM (PKM2), promoting its homodimerization and conversion into a protein kinase (PubMed:24120661). Acetylates RPTOR in response to leucine, leading to activation of the mTORC1 complex (PubMed:30197302, PubMed:32561715). Acetylates RICTOR, leading to activation of the mTORC2 complex (PubMed:22084251). Mediates cAMP-gene regulation by binding specifically to phosphorylated CREBBP (PubMed:8917528). In addition to protein acetyltransferase, can use different acyl-CoA substrates, such as (2E)-butenoyl-CoA (crotonyl-CoA), butanoyl-CoA (butyryl-CoA), 2-hydroxyisobutanoyl-CoA (2-hydroxyisobutyryl-CoA), lactoyl-CoA, propanoyl-CoA (propionyl-CoA) or isonicotinyl-CoA, and is able to mediate protein crotonylation, butyrylation, 2-hydroxyisobutyrylation, lactylation, propionylation or isonicotinylation, respectively (PubMed:17267393, PubMed:25818647, PubMed:29775581, PubMed:31645732, PubMed:34545082). Acts as a histone crotonyltransferase; crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25818647). Histone crotonyltransferase activity is dependent on the concentration of (2E)-butenoyl-CoA (crotonyl-CoA) substrate and such activity is weak when (2E)-butenoyl-CoA (crotonyl-CoA) concentration is low (PubMed:25818647). Also acts as a histone butyryltransferase; butyrylation marks active promoters (PubMed:17267393). Catalyzes histone lactylation in macrophages by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription (PubMed:31645732). Acts as a protein-lysine 2-hydroxyisobutyryltransferase; regulates glycolysis by mediating 2-hydroxyisobutyrylation of glycolytic enzymes (PubMed:29775581). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493)., [UniProtKB, PubMed, 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, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; KIF15 promotes human glioblastoma progression under the synergistic transactivation of REST and P300. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 8, "predicted_n_glycosites": 0, "predicted_o_glycosites": 8, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "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": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 35, "reported_mutagensis": 29, "reported_glycation": 0, "reported_snv": 234, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 21, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "B1AKC2", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "1.14.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.1", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.1.1.320", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.320", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "7.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.2", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "7.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.3", "type": "external" }, { "id": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.34", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "1.15.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.15.1.1", "type": "external" }, { "id": "3.4.21.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.79", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "1.1.1.49", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.49", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "1.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.2", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "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": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "6.3.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.2", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.21", "type": "external" }, { "id": "1.1.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.44", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.4", "type": "external" }, { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "4.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.1", "type": "external" }, { "id": "1.8.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.9", "type": "external" }, { "id": "1.11.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.2", "type": "external" }, { "id": "3.4.19.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.-", "type": "external" }, { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.5.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.48", "type": "external" }, { "id": "3.5.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.62", "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": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" }, { "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": "3.1.13.1", "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": "6.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.1", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" }, { "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": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.3.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.15", "type": "external" }, { "id": "2.3.1.199", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.199", "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": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" } ], "go_molecular_function": "GO:0097677 STAT family protein binding;GO:0061733 protein-lysine-acetyltransferase activity;GO:0061920 protein propionyltransferase activity;GO:0097157 pre-mRNA intronic binding;GO:0140065 peptide butyryltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:1904263 positive regulation of TORC1 signaling;GO:0006475 internal protein amino acid acetylation;GO:0061921 peptidyl-lysine propionylation;GO:0090043 regulation of tubulin deacetylation", "synthesized_glycan_count": 0, "hit_score": 132.6, "record_id": "Q09472-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100010001001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61968-1", "uniprot_id": [ { "id": "LMO4_HUMAN", "url": "https://www.uniprot.org/uniprot/P61968", "type": "external" } ], "mass": 17994.0, "length": 165, "protein_name": "LIM domain transcription factor LMO4", "gene_name": "LMO4", "organism": "Human", "refseq_name": "LIM domain transcription factor LMO4", "refseq_ac": [ { "id": "NP_006760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006760", "type": "external" } ], "gene_names_uniprotkb": "LMO4", "gene_names_refseq": "LMO4", "protein_names_uniprotkb": "LIM domain transcription factor LMO4; Breast tumor autoantigen; LIM domain only protein 4; LMO-4", "protein_names_refseq": "LIM domain only protein 4; LIM domain transcription factor LMO4; LIM-only 4 protein; LMO-4; breast tumor autoantigen", "tax_id": 9606, "disease": "anencephaly (Disease Ontology:DOID:0060668)", "pathway": " (hsa:8543)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "10209267;11751867;12153047;17074750;19531498;23353824;24714562;24715725;25576301;25645385;25892735;26154972;26728094;26992070;27397612;27543614;27600516;27846572;27862975;27920218;28063628;28228285;28514659;28832583;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30484775;30779550;31154438;31844290;31848261;31998317;32157095;32265295;32387766;32488085;32502341;32938616;32983136;33091337;33141586;33592498;33717175;33906487;33968037;34725544;34925640;34932366;35051231;35318648;35561310;35580925;36241641;36284347;36581221;37938771;38320628", "class_list": "", "function": "1H, 15N and 13C assignments of FLIN4, an intramolecular LMO4:ldb1 complex, [RefSeq, PubMed]; CircLDLR Promotes Papillary Thyroid Carcinoma Tumorigenicity by Regulating miR-637/LMO4 Axis. Publication Status: Online-Only, [RefSeq, PubMed]; IL-6 Up-Regulates Expression of LIM-Domain Only Protein 4 in Psoriatic Keratinocytes through Activation of the MEK/ERK/NF-kappaB Pathway., [RefSeq, PubMed]; MicroRNA-139-5p Alleviates High Glucose-Triggered Human Retinal Pigment Epithelial Cell Injury by Targeting LIM-Only Factor 4. Publication Status: Online-Only, [RefSeq, PubMed]; Research and Clinical Significance of the Differentially Expressed Genes TP63 and LMO4 in Human Immunodeficiency Virus-Related Penile Squamous Cell Carcinoma., [RefSeq, PubMed]; These findings reveal a novel complex between BRCA1, LMO4, and CtIP and indicate a role for LMO4 as a repressor of BRCA1 activity in breast tissue., [RefSeq, PubMed]; This gene encodes a cysteine-rich protein that contains two LIM domains but lacks a DNA-binding homeodomain. The encoded protein may play a role as a transcriptional regulator or as an oncogene. [provided by RefSeq, Aug 2008]., [RefSeq]; Transcription cofactor. Plays a role in establishing motor neuron identity, in concert with MNX1, acting, at least in part, to disrupt LDB1-LHX3 complexes thereby negatively modulating interneuron genes in motor neurons., [UniProtKB, UniProtKB]", "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": 0, "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": "D3DT23;O00158;O88894", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0003714 transcription corepressor activity;GO:0003712 transcription coregulator activity;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0031252 cell leading edge;GO:0005667 transcription regulator complex;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0050793 regulation of developmental process;GO:0021520 spinal cord motor neuron cell fate specification;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "P61968-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15691-1", "uniprot_id": [ { "id": "MARE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15691", "type": "external" } ], "mass": 29999.0, "length": 268, "protein_name": "Microtubule-associated protein RP/EB family member 1", "gene_name": "MAPRE1", "organism": "Human", "refseq_name": "microtubule-associated protein RP/EB family member 1", "refseq_ac": [ { "id": "NP_036457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036457", "type": "external" } ], "gene_names_uniprotkb": "MAPRE1", "gene_names_refseq": "EB1; MAPRE1", "protein_names_uniprotkb": "Microtubule-associated protein RP/EB family member 1; APC-binding protein EB1; EB1; End-binding protein 1", "protein_names_refseq": "APC-binding protein EB1; adenomatous polyposis coli-binding protein EB1; end-binding protein 1; microtubule-associated protein RP/EB family member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:22919); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-5663220); (R-HSA-68877); (R-HSA-8852276); (R-HSA-8854518); (R-HSA-9648025)", "pathway_count": 16, "publication_count": 290, "publication_id_list": "10188731;10226031;10411507;10600384;10644998;10678165;10958683;11076968;11081627;11181178;11371342;11509732;11535616;11804586;11943150;11956313;12006501;12194817;12207013;12221128;12364337;12388762;12429848;12577064;12679384;12732141;12805219;12852856;12852857;12857735;13678582;14514668;14580337;14654843;14730319;15006353;15085137;15339662;15498487;15507212;15592455;15616574;15631994;15664193;15705883;15723797;15737063;15864301;15866170;15944396;16109370;16292343;16357211;16408927;16439214;16462731;16541025;16622419;16622420;16682347;16890155;16890222;16943183;16949363;17030981;17112726;17113138;17129783;17196341;17198702;17287340;17293347;1737036;17563362;17574030;17646400;17719545;17889670;18001770;18037885;18097444;18212344;18378770;18477460;18491316;18521620;18566290;18615013;18694559;18716626;18801063;18923426;18991276;19004860;19081074;19255245;19350017;19543227;19553473;19632184;19696148;19815554;19940019;19965387;20018861;20030946;20101212;20230748;20308558;20399632;20558667;20577264;20591975;21111234;21136679;21148482;21273506;21303978;21347367;21397845;21422230;21548880;21565611;21576392;21620453;21646404;21725307;21792235;21820309;21868368;21878504;21987589;22094460;22094468;22123863;22179047;22223895;22275430;22365832;22424782;22433857;22608513;22641346;22653444;22790947;22885700;23001180;23035123;23141531;23141541;23186163;23222643;23236459;23253480;23348840;23400999;23481700;23509069;23530209;23747070;23769972;23789104;23801653;23874158;23921553;24053599;24089205;24231678;24366607;24469809;24706950;24714562;24715725;24914801;24930764;24982133;25047611;25217626;25225338;25313408;25532896;25576301;25740311;25789526;25810538;26154972;26485573;26992070;27225956;27543614;27600516;27698945;27721984;27862975;27920218;28039481;28218747;28228285;28514659;28726242;28814570;28832583;28834231;28855257;28860189;28904123;29162697;29228685;29242379;29493099;29508533;29557506;29632711;30059200;30315122;30429286;30484775;30524438;30779550;31154438;31373491;31409757;31492838;31530632;31611695;31844290;31848261;31998317;32119511;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33402344;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34260926;34357683;34433824;34509645;34608293;34725712;34932366;35008409;35051231;35154160;35318648;35513511;35561310;35580925;36010968;36215666;36241641;36284347;36536176;36592928;36715499;37520527;37938771;38665916;39534244;40596516;40914422;7606712;7769006;7790358;8838651;9649308;9649503;9724749;9844631;9892021", "class_list": "", "function": "End-binding protein 1 regulates the metabolic fate of CD4[+] T lymphoblasts and Jurkat T cells and the organization of the mitochondrial network. Publication Status: Online-Only, [RefSeq, PubMed]; Growth cone advance requires EB1 as revealed by genomic replacement with a light-sensitive variant. Publication Status: Online-Only, [RefSeq, PubMed]; Kinetochore-microtubule attachment in human cells is regulated by the interaction of a conserved motif of Ska1 with EB1., [RefSeq, PubMed]; Phase separation of EB1 guides microtubule plus-end dynamics. Erratum:[Nat Cell Biol. 2024 Jan;26(1):168-169. doi: 10.1038/s41556-023-01324-4. PMID: 38062156], [RefSeq, PubMed]; Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton (PubMed:12388762, PubMed:16109370, PubMed:19632184, PubMed:21646404, PubMed:23001180, PubMed:28726242, PubMed:28814570, PubMed:34608293). Recruits other +TIP proteins to microtubules by binding to a conserved Ser-X-Leu-Pro (SXLP) motif in their polypeptide chains (PubMed:19632184, PubMed:36592928). Promotes cytoplasmic microtubule nucleation and elongation (PubMed:12388762, PubMed:16109370, PubMed:19632184, PubMed:21646404, PubMed:28726242, PubMed:28814570). Involved in mitotic spindle positioning by stabilizing microtubules and promoting dynamic connection between astral microtubules and the cortex during mitotic chromosome segregation (PubMed:12388762, PubMed:34608293). Assists chromosome alignment in metaphase by recruiting the SKA complex to the spindle and stabilizing its interactions with microtubule bundles (K-fibers) (PubMed:27225956, PubMed:36592928). Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:28814570). Promotes elongation of CAMSAP2-decorated microtubule stretches on the minus-end of microtubules (PubMed:28814570). Acts as a regulator of autophagosome transport via interaction with CAMSAP2 (PubMed:28726242). Functions downstream of Rho GTPases and DIAPH1 in stable microtubule formation (By similarity). Promotes microtubule-mediated GJA1/CX43 trafficking to cell membranes via its interaction with DSP, thereby facilitating gap junction intracellular communication (PubMed:25225338). May play a role in cell migration (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [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, "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": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2R6I7;E1P5M8;Q3KQS8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0051010 microtubule plus-end binding;GO:0120283 protein serine/threonine kinase binding", "go_cellular_component": "GO:0030981 cortical microtubule cytoskeleton;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0046785 microtubule polymerization;GO:0051315 attachment of mitotic spindle microtubules to kinetochore;GO:0016477 cell migration;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 29.8, "record_id": "Q15691-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55081-1", "uniprot_id": [ { "id": "MFAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P55081", "type": "external" } ], "mass": 51958.0, "length": 439, "protein_name": "Microfibrillar-associated protein 1", "gene_name": "MFAP1", "organism": "Human", "refseq_name": "microfibrillar-associated protein 1", "refseq_ac": [ { "id": "NP_005917", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005917", "type": "external" } ], "gene_names_uniprotkb": "MFAP1", "gene_names_refseq": "AMP; MFAP1", "protein_names_uniprotkb": "Microfibrillar-associated protein 1; Spliceosome B complex protein MFAP1", "protein_names_refseq": "microfibrillar associated protein 1; microfibrillar-associated protein 1; spliceosome B complex protein MFAP1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4236); (R-HSA-72163)", "pathway_count": 2, "publication_count": 182, "publication_id_list": "10.1101/2023.09.13.557529;10882114;11014198;11101529;11233976;11991638;12176931;12411573;12414731;12477934;14625303;14713954;15302935;15345747;16314458;16565220;16809785;17081983;17095540;17332742;17487921;17606899;18220336;18318008;18322460;18452278;18491316;18593880;18669648;18691976;19007248;19103666;19165350;19413330;19415658;19536130;19562805;19651622;19664994;19664995;19690332;20058876;20068231;20112406;20166139;20187088;20423332;20980672;21406692;21536652;2176635;22110043;22223895;22365833;22424782;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24190977;24196718;24275569;24304693;24366607;24448447;24714562;24715725;24737827;24914973;25418920;25555158;25576301;2558966;25645385;25755297;25810538;26154972;26375851;26385511;26420826;26673105;26728094;26768311;26969736;26992070;27377154;27459055;27600516;27683217;27773687;27846572;27920218;28062851;28076346;28228285;28502770;28510447;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632711;2963332;30315277;30429286;30484775;30524438;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31222486;31390568;31409651;31530632;31844290;31848261;31998317;32157095;32161166;32179686;32265295;32329775;32357974;32387766;32494006;32502341;32897882;32938616;32983136;33141586;33243851;33298915;33446560;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34301950;34405274;34509645;34822310;34932366;35051231;35318648;35385551;35580925;36241641;36284347;37217939;3757028;7835894;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Depletion of the MFAP1/SPP381 Splicing Factor Causes R-Loop-Independent Genome Instability., [RefSeq, PubMed]; Involved in pre-mRNA splicing as a component of the spliceosome., [UniProtKB, 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86TG6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001527 microfibril;GO:0005684 U2-type spliceosomal complex;GO:0071005 U2-type precatalytic spliceosome", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "P55081-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZU1-1", "uniprot_id": [ { "id": "FAM9A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZU1", "type": "external" } ], "mass": 37339.0, "length": 332, "protein_name": "Protein FAM9A", "gene_name": "FAM9A", "organism": "Human", "refseq_name": "protein FAM9A", "refseq_ac": [ { "id": "NP_001164657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164657", "type": "external" } ], "gene_names_uniprotkb": "FAM9A; TEX39A", "gene_names_refseq": "FAM9A; TEX39A", "protein_names_uniprotkb": "Protein FAM9A", "protein_names_refseq": "protein FAM9A; testis expressed 39A", "tax_id": 9606, "disease": "", "pathway": " (hsa:171482)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "12213195;25576301;28218747;29242379;31154438;32488085;32938616;33981976;34357683;35580925;36215666", "class_list": "", "function": "Expressed exclusively in testis; protein is located in the nucleus, and localizes to the nucleolus., [RefSeq, PubMed]; This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be a nuclear protein that is localized to the nucleolus, and has some similarity to a synaptonemal complex protein. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]., [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": 9, "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": "B7ZLH5;Q2M2D1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005730 nucleolus;GO:0000795 synaptonemal complex", "go_biological_process": "GO:0007286 spermatid development;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8IZU1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56704-1", "uniprot_id": [ { "id": "WNT3A_HUMAN", "url": "https://www.uniprot.org/uniprot/P56704", "type": "external" } ], "mass": 39365.0, "length": 352, "protein_name": "Protein Wnt-3a", "gene_name": "WNT3A", "organism": "Human", "refseq_name": "protein Wnt-3a precursor", "refseq_ac": [ { "id": "NP_149122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149122", "type": "external" } ], "gene_names_uniprotkb": "WNT3A", "gene_names_refseq": "WNT3A", "protein_names_uniprotkb": "Protein Wnt-3a", "protein_names_refseq": "protein Wnt-3a precursor; protein Wnt-3a; wingless-type MMTV integration site family, member 3A", "tax_id": 9606, "disease": "traumatic brain injury (Disease Ontology:DOID:0081292); hypothyroidism (Disease Ontology:DOID:1459)", "pathway": " (hsa:89780); (R-HSA-201681); (R-HSA-3238698); (R-HSA-373080); (R-HSA-3772470); (R-HSA-4641262); (R-HSA-4641263); (R-HSA-5340588); (R-HSA-9793380); (R-HSA-9832991); (R-HSA-9834899); (R-HSA-9856649)", "pathway_count": 12, "publication_count": 256, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10198061;10201374;10347172;10421629;10428961;10481074;10567402;10581160;10611221;10655586;10673502;10684251;10694878;10698523;11027551;11029007;11031247;11137016;11231171;11297558;11336703;11357136;11414706;11433298;11433302;11448771;11493532;11707456;11738041;11742004;11840323;11861647;11891324;11912130;11930005;12050670;12098667;12167704;12205098;12223464;12527209;12554650;12559132;12717451;12775774;12897152;14636582;14731402;14975237;14981260;15073180;15084453;15118077;15208637;15226305;15256437;15454084;15459103;15492824;15498814;15507434;15681612;15778503;15908424;16014379;16034366;16082208;16109882;16116452;16172602;16227623;16280981;16341016;16341017;16357527;16364628;16427602;16554443;16602827;16645052;16678095;16678096;16723543;16822840;16890161;16971168;1698554;17086209;17108000;17117926;17141155;17143291;17143292;17234765;17318175;17320548;17397399;17400545;17462603;1748288;17529994;17569865;17623675;17804805;18077588;18160347;18160348;18193032;18193037;18322270;18339531;18362152;18423204;18430724;18502762;18606139;18644867;18801728;19000841;19061640;19107203;19174556;19208630;19307728;19442504;19524539;19566487;19608861;19619488;19755491;19802005;19837038;20004982;20053636;20074535;20093360;20393562;20460180;20477987;20495530;20533886;20826466;20966082;21183070;21183076;21244856;21252990;21383061;21486943;21554866;21693646;21725318;21725319;21727895;21743455;21768372;21875946;21886182;21909076;21944579;21965087;21984209;22000855;22000856;22014570;22027831;22041890;22046319;22094269;22094272;22108505;22411803;22575959;22647378;22653731;22773843;22784633;22888000;22895187;22951645;22952392;22983114;22986341;23074275;23148298;23159739;23190890;23207919;23256519;23260141;23613470;23791946;23847203;24292069;24841207;25248477;25595898;25731175;26902720;26908622;27128622;27214281;28178531;28394346;29153507;29295999;29508533;29632711;30804224;32157095;32502341;32636443;33744299;34140478;35051231;3616618;37076124;37400934;37563362;37770430;38047807;5338216;6950381;7797535;7958932;8082781;8167409;8168088;8198617;8262072;8336698;8386612;8397094;8557170;8612563;8732687;8770894;8895516;8906787;8985181;9034327;9064337;9135132;9199364;9353119;9391096;9440696;9482734;9501980;9560246;9635432;9676189;9760192;9973413", "class_list": "", "function": "Impact of genetic variations in the WNT family members and RUNX2 on dental and skeletal maturation: a cross-sectional study. Publication Status: Online-Only, [RefSeq, PubMed]; LINC00665 activating Wnt3a/beta-catenin signaling by bond with YBX1 promotes gastric cancer proliferation and metastasis., [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:20093360, PubMed:21244856, PubMed:24841207, PubMed:26902720). Required for normal embryonic mesoderm development and formation of caudal somites. Required for normal morphogenesis of the developing neural tube (By similarity). Mediates self-renewal of the stem cells at the bottom on intestinal crypts (in vitro) (PubMed:26902720)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; SOX9 Inhibits the Progression of Osteonecrosis of the Femoral Head via the Activation of the Wnt/Beta-Catenin Pathway., [RefSeq, PubMed]; TNFRSF19 within the 13q12.12 Risk Locus Functions as a Lung Cancer Suppressor by Binding Wnt3a to Inhibit Wnt/beta-Catenin Signaling., [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 encodes a protein which shows 96% amino acid identity to mouse Wnt3A protein, and 84% to human WNT3 protein, another WNT gene product. This gene is clustered with WNT14 gene, another family member, in chromosome 1q42 region. [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": 3, "mined_n_glycosites": 2, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "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": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q3SY79;Q3SY80;Q969P2", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0005102 signaling receptor binding;GO:0005109 frizzled binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen", "go_biological_process": "GO:0099054 presynapse assembly;GO:0007507 heart development;GO:0010628 positive regulation of gene expression;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0071300 cellular response to retinoic acid", "synthesized_glycan_count": 0, "hit_score": 26.2, "record_id": "P56704-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000110000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXI8-1", "uniprot_id": [ { "id": "CLC4D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXI8", "type": "external" } ], "mass": 24704.0, "length": 215, "protein_name": "C-type lectin domain family 4 member D", "gene_name": "CLEC4D", "organism": "Human", "refseq_name": "C-type lectin domain family 4 member D", "refseq_ac": [ { "id": "NP_525126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_525126", "type": "external" } ], "gene_names_uniprotkb": "CLEC4D; CLECSF8; MCL", "gene_names_refseq": "CD368; CLEC-6; CLEC4D; CLEC6; CLECSF8; Dectin-3; MCL; MPCL", "protein_names_uniprotkb": "C-type lectin domain family 4 member D; C-type lectin superfamily member 8; C-type lectin-like receptor 6; CLEC-6; DC-associated C-type lectin 3; Dectin-3; Dendritic cell-associated C-type lectin 3", "protein_names_refseq": "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8; C-type lectin domain family 4 member D; C-type lectin receptor; C-type lectin superfamily member 8; C-type lectin-like receptor 6; DC-associated C-type lectin 3; Dectin 3; dendritic cell-associated C-type lectin 3; macrophage C-type lectin", "tax_id": 9606, "disease": "", "pathway": " (hsa:338339); (R-HSA-5621480); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 26, "publication_id_list": "11110698;11237011;11606584;14656219;14971047;15368084;17050534;18490740;18776906;18818202;21880719;22041900;22689578;23053572;23507963;23602766;23650620;23911656;24101491;29616019;32532809;34480018;8598452;8692836;8972730;9042338", "class_list": "glycogene", "function": "C-type lectin receptor Dectin3 deficiency balances the accumulation and function of FoxO1-mediated LOX-1(+) M-MDSCs in relieving lupus-like symptoms. Erratum:[Cell Death Dis. 2023 Apr 25;14(4):291. doi: 10.1038/s41419-023-05809-w. PMID: 37185572] Publication Status: Online-Only, [RefSeq, PubMed]; CLECSF8 functions as an activation receptor on myeloid cells and associates with a novel adaptor molecule, [RefSeq, PubMed]; Calcium-dependent lectin that acts as a pattern recognition receptor (PRR) of the innate immune system: recognizes damage-associated molecular patterns (DAMPs) of pathogen-associated molecular patterns (PAMPs) of bacteria and fungi (PubMed:23602766, PubMed:23911656). The PAMPs include alpha-mannans on C.albicans hypheas and mycobacterial trehalose 6,6'-dimycolate (TDM) (PubMed:23602766, PubMed:23911656). Interacts with signaling adapter Fc receptor gamma chain/FCER1G, likely via CLEC4E, to form a functional complex in myeloid cells (By similarity). Binding of mycobacterial TDM or C.albicans alpha-mannans to this receptor complex leads to phosphorylation of the immunoreceptor tyrosine-based activation motif (ITAM) of FCER1G, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes (PubMed:23602766, PubMed:23911656). The heterodimer formed with CLEC6A is active against fungal infection (PubMed:23911656). Functions as an endocytic receptor (PubMed:14971047). May be involved in antigen uptake at the site of infection, either for clearance of the antigen, or for processing and further presentation to T-cells (PubMed:14971047)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Cross-linking of the receptor leads to a rapid internalization suggesting that CLECSF8 constitutes and endocytic receptor., [RefSeq, PubMed]; The Mincle/Syk/NF-kappaB Signaling Circuit Is Essential for Maintaining the Protumoral Activities of Tumor-Associated Macrophages., [RefSeq, PubMed]; The Syk-Coupled C-Type Lectin Receptors Dectin-2 and Dectin-3 Are Involved in Paracoccidioides brasiliensis Recognition by Human Plasmacytoid Dendritic Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "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": 2, "reported_glycation": 0, "reported_snv": 322, "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": "Q8N5J5", "ec_number_list": [], "go_molecular_function": "GO:0034987 immunoglobulin receptor binding;GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0005537 D-mannose binding;GO:0038187 pattern recognition receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0070821 tertiary granule membrane;GO:0009897 external side of plasma membrane;GO:0101003 ficolin-1-rich granule membrane", "go_biological_process": "GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0002250 adaptive immune response;GO:0030887 positive regulation of myeloid dendritic cell activation;GO:0061760 antifungal innate immune response", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8WXI8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WTR7-1", "uniprot_id": [ { "id": "ZN473_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WTR7", "type": "external" } ], "mass": 100182.0, "length": 871, "protein_name": "Zinc finger protein 473", "gene_name": "ZNF473", "organism": "Human", "refseq_name": "zinc finger protein 473 isoform 1", "refseq_ac": [ { "id": "NP_001006657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006657", "type": "external" } ], "gene_names_uniprotkb": "ZNF473; KIAA1141; ZFP100", "gene_names_refseq": "ZFP100; ZN473; ZNF473", "protein_names_uniprotkb": "Zinc finger protein 473; Zfp-100; Zinc finger protein 100 homolog", "protein_names_refseq": "zinc finger protein 100 homolog; zinc finger protein 473 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25888); (R-HSA-111367); (R-HSA-212436); (R-HSA-73856); (R-HSA-77588)", "pathway_count": 5, "publication_count": 36, "publication_id_list": "10235266;10330177;11237011;11395415;11782445;12975319;14519192;15175151;15824063;15896744;16606702;16714279;16719718;16914750;2163759;25576301;26992070;28218747;28514659;28832583;29242379;29632046;30315122;30484775;31844290;32157095;32357974;33912179;34185709;35051231;35580925;8183939;8769649;9049306;9637681;9653119", "class_list": "", "function": "Involved in histone 3'-end pre-mRNA processing by associating with U7 snRNP and interacting with SLBP/pre-mRNA complex. Increases histone 3'-end pre-mRNA processing but has no effect on U7 snRNP levels, when overexpressed. Required for cell cycle progression from G1 to S phases., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3'-end pre-mRNA processing and may be required for cell cycle progression to S phase. Expression level and methylation status of this gene may be correlated with bone mineral density. [provided by RefSeq, Jul 2016]., [RefSeq]; ZFP100 is the limiting factor for histone pre-mRNA processing in vivo., [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": 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": 8, "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": "A8K8T7;Q9ULS9;Q9Y4Q7", "ec_number_list": [], "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:0005654 nucleoplasm;GO:0015030 Cajal body", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006398 mRNA 3'-end processing by stem-loop binding and cleavage;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q8WTR7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3Y2-1", "uniprot_id": [ { "id": "CHTOP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3Y2", "type": "external" } ], "mass": 26397.0, "length": 248, "protein_name": "Chromatin target of PRMT1 protein", "gene_name": "CHTOP", "organism": "Human", "refseq_name": "chromatin target of PRMT1 protein isoform 3", "refseq_ac": [ { "id": "NP_001231593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231593", "type": "external" } ], "gene_names_uniprotkb": "CHTOP; C1orf77; FOP; HT031; PP7704", "gene_names_refseq": "C10orf77; C1orf77; CHTOP; FL-SRAG; FOP; SRAG-3; SRAG-5; SRAG; pp7704", "protein_names_uniprotkb": "Chromatin target of PRMT1 protein; Friend of PRMT1 protein; SRAG; Small arginine- and glycine-rich protein", "protein_names_refseq": "chromatin target of PRMT1 protein isoform 3; friend of PRMT1 protein; small protein rich in arginine and glycine", "tax_id": 9606, "disease": "", "pathway": " (hsa:26097); (R-HSA-159236); (R-HSA-72187)", "pathway_count": 3, "publication_count": 107, "publication_id_list": "10228171;10323864;10489353;10668806;11073998;11237011;11256625;11259411;11259602;11579093;11739738;11756420;11979277;12093754;12871933;15498874;15998806;16314397;17000901;17081983;17190602;17984224;18364396;18411249;18423201;18957205;19007248;19254951;19691289;19836239;19858291;20068231;20129943;20573985;20688955;20844015;21947206;22207203;22893130;22928037;23186163;23222130;23299939;23481700;23555621;23826332;24244187;24714562;24715725;25284789;25576301;25662211;25836925;25880248;26154972;26728094;26758079;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29789417;30192525;30779550;31154438;31844290;31848261;32157095;32265295;32502341;32983136;33123756;33141586;33214551;33298915;33465208;33936100;33968037;33981976;34019948;34229054;34561969;34932366;34984976;35051231;35251023;35580925;36241641;36284347;37938771;39990658;40596516;9618489;9660949", "class_list": "", "function": "Fop is tightly associated with chromatin, and that it is modified by both asymmetric and symmetric arginine methylation in vivo. Fop plays an important role in the ligand-dependent activation of estrogen receptor target genes, including TFF1 (pS2)., [RefSeq, PubMed]; Plays an important role in the ligand-dependent activation of estrogen receptor target genes (PubMed:19858291). May play a role in the silencing of fetal globin genes (PubMed:20688955). Recruits the 5FMC complex to ZNF148, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (By similarity). Plays an important role in the tumorigenicity of glioblastoma cells. Binds to 5-hydroxymethylcytosine (5hmC) and associates with the methylosome complex containing PRMT1, PRMT5, MEP50 and ERH. The CHTOP-methylosome complex associated with 5hmC is recruited to selective sites on the chromosome, where it methylates H4R3 and activates the transcription of genes involved in glioblastomagenesis (PubMed:25284789)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Required for effective mRNA nuclear export and is a component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Stimulates DDX39B ATPase and helicase activities. In cooperation with ALYREF/THOC4 enhances NXF1 RNA binding activity (PubMed:23299939)., [UniProtKB, PubMed]; The recently identified chromatin factor Friend of Prmt1 (FOP) is a critical modulator of gamma-globin gene expression., [RefSeq, PubMed]; The reduction in SRAG protein that occurs in proliferating cells was mapped with inhibitors to the G(2)/M phase of the cell cycle. As expected, the overexpression of SRAG reduced the percentage of cells in the G(2)/M phase and increased cell death., [RefSeq, PubMed]; This gene encodes a small nuclear protein that is characterized by an arginine and glycine rich region. This protein may have an important role in the regulation of fetal globin gene expression and in the activation of estrogen-responsive genes. A recent study reported that this protein binds 5-hydroxymethylcytosine (5hmC) and associates with an arginine methyltransferase complex (methylosome), which promotes methylation of arginine 3 of histone H4 (H4R3) and activation of genes involved in glioblastomagenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2015]., [RefSeq]; Type I and II PRMTs inversely regulate post-transcriptional intron detention through Sm and CHTOP methylation. 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, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DV55;Q0VAQ8;Q2VPI9;Q5T7Y8;Q5T7Y9;Q5T7Z0;Q6NSM4;Q6PB28;Q8WYT9;Q9BUC5;Q9H034;Q9H2L0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008327 methyl-CpG binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016607 nuclear speck;GO:0000346 transcription export complex", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006406 mRNA export from nucleus;GO:0032781 positive regulation of ATP-dependent activity;GO:0051096 positive regulation of helicase activity", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q9Y3Y2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30711-1", "uniprot_id": [ { "id": "GSTT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30711", "type": "external" } ], "mass": 27335.0, "length": 240, "protein_name": "Glutathione S-transferase theta-1", "gene_name": "GSTT1", "organism": "Human", "refseq_name": "glutathione S-transferase theta-1 isoform a", "refseq_ac": [ { "id": "NP_000844", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000844", "type": "external" } ], "gene_names_uniprotkb": "GSTT1", "gene_names_refseq": "GSTT1", "protein_names_uniprotkb": "Glutathione S-transferase theta-1; 2.5.1.18; GST class-theta-1; Glutathione transferase T1-1", "protein_names_refseq": "GST class-theta-1; glutathione S-transferase theta-1 isoform a; glutathione transferase T1-1", "tax_id": 9606, "disease": "orofacial cleft (Disease Ontology:DOID:0050567); inflammatory bowel disease (Disease Ontology:DOID:0050589); alcohol dependence (Disease Ontology:DOID:0050741); diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); medulloblastoma (Disease Ontology:DOID:0050902); myelodysplastic syndrome (Disease Ontology:DOID:0050908); pre-malignant neoplasm (Disease Ontology:DOID:0060071); acute promyelocytic leukemia (Disease Ontology:DOID:0060318); drug allergy (Disease Ontology:DOID:0060500); alcohol-associated liver disease (Disease Ontology:DOID:0070658); mucositis (Disease Ontology:DOID:0080178); colorectal carcinoma (Disease Ontology:DOID:0080199); COVID-19 (Disease Ontology:DOID:0080600); venous insufficiency (Disease Ontology:DOID:10128); osteonecrosis (Disease Ontology:DOID:10159); prostate cancer (Disease Ontology:DOID:10283); lymphoid leukemia (Disease Ontology:DOID:1037); Hirschsprung's disease (Disease Ontology:DOID:10487); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); hypospadias (Disease Ontology:DOID:10892); sickle cell anemia (Disease Ontology:DOID:10923); urinary bladder cancer (Disease Ontology:DOID:11054); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); head and neck cancer (Disease Ontology:DOID:11934); optic neuritis (Disease Ontology:DOID:1210); beta thalassemia (Disease Ontology:DOID:12241); neutropenia (Disease Ontology:DOID:1227); leukemia (Disease Ontology:DOID:1240); aplastic anemia (Disease Ontology:DOID:12449); cardiovascular system disease (Disease Ontology:DOID:1287); lung cancer (Disease Ontology:DOID:1324); Fanconi anemia (Disease Ontology:DOID:13636); exfoliation syndrome (Disease Ontology:DOID:13641); Parkinson's disease (Disease Ontology:DOID:14330); aggressive periodontitis (Disease Ontology:DOID:1474); cystic fibrosis (Disease Ontology:DOID:1485); acute chest syndrome (Disease Ontology:DOID:1584); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); congenital heart disease (Disease Ontology:DOID:1682); ovary epithelial cancer (Disease Ontology:DOID:2152); motor neuron disease (Disease Ontology:DOID:231); colon adenocarcinoma (Disease Ontology:DOID:234); anemia (Disease Ontology:DOID:2355); multiple sclerosis (Disease Ontology:DOID:2377); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); cervix carcinoma (Disease Ontology:DOID:2893); pulmonary tuberculosis (Disease Ontology:DOID:2957); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); coronary artery disease (Disease Ontology:DOID:3393); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); Lynch syndrome (Disease Ontology:DOID:3883); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); liver disease (Disease Ontology:DOID:409); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); esophagus adenocarcinoma (Disease Ontology:DOID:4914); esophageal cancer (Disease Ontology:DOID:5041); liver cirrhosis (Disease Ontology:DOID:5082); peripheral nervous system disease (Disease Ontology:DOID:574); oral submucous fibrosis (Disease Ontology:DOID:5773); leukopenia (Disease Ontology:DOID:615); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); cataract (Disease Ontology:DOID:83); lung disease (Disease Ontology:DOID:850); Hodgkin's lymphoma (Disease Ontology:DOID:8567); infectious mononucleosis (Disease Ontology:DOID:8568); ulcerative colitis (Disease Ontology:DOID:8577); oral cavity cancer (Disease Ontology:DOID:8618); myeloid leukemia (Disease Ontology:DOID:8692); Crohn's disease (Disease Ontology:DOID:8778); skin melanoma (Disease Ontology:DOID:8923); diabetic retinopathy (Disease Ontology:DOID:8947); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); oral mucosa leukoplakia (Disease Ontology:DOID:9655); senile cataract (Disease Ontology:DOID:9669); type 1 diabetes mellitus (Disease Ontology:DOID:9744); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2952); (R-HSA-156590); (R-HSA-9753281)", "pathway_count": 3, "publication_count": 77, "publication_id_list": "10329152;10587441;10741631;10783391;10975610;11327815;11714888;11904223;12042665;12211029;12473676;12627223;14742434;16081649;16298388;16548513;16696573;17627974;17924658;18232020;18357469;1848757;19463;19842618;20083122;20085333;20097269;20190787;21106529;21666065;21668448;21712391;22349737;22406294;22522127;23162467;23682772;2573352;26049587;26067475;27452731;27600516;28510447;29557506;31844290;32472168;32502341;32938616;33592498;3372534;3395122;35051231;36010968;3770744;39004322;39063019;39068558;39433861;4768551;6950087;70646;7469630;8182750;8198545;8203914;8331657;8431482;8703034;8761485;8812420;8813074;9024171;9080;9278457;9434735;9551553;9839448", "class_list": "", "function": "Association of Glutathione Transferase M1, T1, P1 and A1 Gene Polymorphism and Susceptibility to IgA Vasculitis. Publication Status: Online-Only, [RefSeq, PubMed]; Association of mRNA expression and polymorphism of antioxidant glutathione-S-transferase (GSTM1 and GSTT1) genes with the risk of Gestational Diabetes Mellitus (GDM)., [RefSeq, PubMed]; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Acts on 1,2-epoxy-3-(4-nitrophenoxy)propane, phenethylisothiocyanate 4-nitrobenzyl chloride and 4-nitrophenethyl bromide. Displays glutathione peroxidase activity with cumene hydroperoxide., [UniProtKB, PubMed, PubMed]; Genetic Polymorphisms in Glutathione S-Transferase (GST) Gene and Their Correlation with Toxicity of Chemotherapy in Breast Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; The moderation effect of GSTM1/GSTT1 gene polymorphisms on the association of sperm mitochondrial DNA copy number and sperm mobility. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene, glutathione S-transferase (GST) theta 1 (GSTT1), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT1 and GSTT2/GSTT2B share 55% amino acid sequence identity and may play a role in human carcinogenesis. The GSTT1 gene is haplotype-specific and is absent from 38% of the population. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2015]., [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": 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": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 93, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O00226;Q5TZY2;Q6IC69;Q969K8;Q96IY3", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "5.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.2", "type": "external" }, { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "1.20.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.20.4.2", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" } ], "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0004602 glutathione peroxidase activity;GO:0016740 transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P30711-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFJ9-1", "uniprot_id": [ { "id": "BBS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFJ9", "type": "external" } ], "mass": 65083.0, "length": 593, "protein_name": "BBSome complex member BBS1", "gene_name": "BBS1", "organism": "Human", "refseq_name": "BBSome complex member BBS1", "refseq_ac": [ { "id": "NP_078925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078925", "type": "external" } ], "gene_names_uniprotkb": "BBS1; BBS2L2", "gene_names_refseq": "BBS1; BBS2L2", "protein_names_uniprotkb": "BBSome complex member BBS1; BBS2-like protein 2; Bardet-Biedl syndrome 1 protein", "protein_names_refseq": "BBS2-like protein 2; BBSome complex member BBS1; bardet-Biedl syndrome 1 protein", "tax_id": 9606, "disease": "Bardet-Biedl syndrome 1 (Disease Ontology:DOID:0110123); Bardet-Biedl syndrome (Disease Ontology:DOID:1935); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:582); (R-HSA-5620922)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "11237011;11252952;12118255;12524598;12567324;12677556;12920096;15258860;15314642;15770229;16327777;17574030;17924679;18000879;19081074;19421068;19575670;20080638;20233871;20603001;21052717;21258341;21344540;21427764;22072986;22139371;22389062;22500027;22544926;23351793;23481700;24296415;24715725;24939912;25443296;25446516;26992070;28832583;28904123;29242379;29508533;29557506;29632711;29786170;30484775;30524438;30833945;31154438;31222486;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33592498;33691108;33968037;34171305;34405274;35051231;35318648;35580925;35695966;36010968;36215666;36241641;36284347;37612261;37998397;39894887", "class_list": "", "function": "De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1. Publication Status: Online-Only, [RefSeq, PubMed]; Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B., [RefSeq, PubMed]; Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]., [RefSeq]; Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island., [RefSeq, PubMed]; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization (PubMed:17574030, PubMed:22072986). Plays a role in olfactory cilium biogenesis/maintenance and trafficking (By similarity)., [UniProtKB, UniProtKB, PubMed, 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q32MM9;Q32MN0;Q96SN4", "ec_number_list": [], "go_molecular_function": "GO:0051219 phosphoprotein binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0005113 patched binding;GO:0005119 smoothened binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0031514 motile cilium;GO:0005930 axoneme;GO:0034451 centriolar satellite", "go_biological_process": "GO:0007601 visual perception;GO:0045494 photoreceptor cell maintenance;GO:0060271 cilium assembly;GO:0045444 fat cell differentiation;GO:0043001 Golgi to plasma membrane protein transport", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q8NFJ9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13367-1", "uniprot_id": [ { "id": "AP3B2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13367", "type": "external" } ], "mass": 119059.0, "length": 1082, "protein_name": "AP-3 complex subunit beta-2", "gene_name": "AP3B2", "organism": "Human", "refseq_name": "AP-3 complex subunit beta-2 isoform 3", "refseq_ac": [ { "id": "NP_001265440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265440", "type": "external" } ], "gene_names_uniprotkb": "AP3B2", "gene_names_refseq": "AP3B2; DEE48; EIEE48; NAPTB", "protein_names_uniprotkb": "AP-3 complex subunit beta-2; Adaptor protein complex AP-3 subunit beta-2; Adaptor-related protein complex 3 subunit beta-2; Beta-3B-adaptin; Clathrin assembly protein complex 3 beta-2 large chain; Neuron-specific vesicle coat protein beta-NAP", "protein_names_refseq": "AP-3 complex subunit beta-2 isoform 3; AP-3 complex subunit beta-2; Neuronal adaptin-like protein, beta-subunit; adaptor protein complex AP-3 subunit beta-2; adaptor related protein complex 3 beta 2 subunit; beta-3B-adaptin; clathrin assembly protein complex 3 beta-2 large chain; neuron-specific vesicle coat protein beta-NAP", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 48 (Disease Ontology:DOID:0080448)", "pathway": " (hsa:8120)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;17453999;18452278;18510355;1851215;19690332;23481700;25418920;25892735;27431290;27889060;29557506;30078552;30779550;30833945;31154438;31217245;31371564;31530632;31844290;31848261;32157095;32161166;32488085;32502341;32983136;33592498;33691108;33968037;34042275;34087483;35051231;35508598;35580925;36356440;37217939;37938771;40914422;7671305", "class_list": "", "function": "Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]., [RefSeq]; Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy., [RefSeq, PubMed]; Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15., [RefSeq, PubMed]; Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity., [RefSeq, PubMed]; Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in paraneoplastic Lambert-Eaton myasthenic syndrome., [RefSeq, PubMed]; Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The AP3B2 antigen was identified in sera and cerebrospinal fluid of patients with sensory or cerebellar ataxia. Erratum:[Neurology. 2019 Oct 1;93(14):647. doi: 10.1212/WNL.0000000000008232. PMID: 31467253], [RefSeq, 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, "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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "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": "A4Z4T7;B7ZKR7;B7ZKS0;O14808;Q52LY8", "ec_number_list": [], "go_molecular_function": "GO:0030276 clathrin binding", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0030665 clathrin-coated vesicle membrane;GO:0030123 AP-3 adaptor complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0008089 anterograde axonal transport;GO:0048490 anterograde synaptic vesicle transport;GO:0036465 synaptic vesicle recycling", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q13367-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15305-1", "uniprot_id": [ { "id": "PMM2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15305", "type": "external" } ], "mass": 28082.0, "length": 246, "protein_name": "Phosphomannomutase 2", "gene_name": "PMM2", "organism": "Human", "refseq_name": "phosphomannomutase 2", "refseq_ac": [ { "id": "NP_000294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294", "type": "external" } ], "gene_names_uniprotkb": "PMM2", "gene_names_refseq": "CDG1a; CDG1; CDGS; PMI1; PMI; PMM 2; PMM2", "protein_names_uniprotkb": "Phosphomannomutase 2; 5.4.2.8; PMM 2", "protein_names_refseq": "mannose-6-phosphate isomerase; phosphomannomutase 2; phosphomannose isomerase 1", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); congenital disorder of glycosylation Ia (Disease Ontology:DOID:0080552); congenital disorder of glycosylation (Disease Ontology:DOID:5212)", "pathway": " (hsa:5373); (R-HSA-4043911); (R-HSA-446205)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10.1101/2023.09.13.557529;10066032;10527672;10571956;10602363;10801058;10854097;10922383;10980531;11058895;11058896;11082198;11156536;11237011;11350185;11916319;12357336;12705494;12905014;15844218;16540464;17166182;17307006;17850744;21937992;22223895;23301498;24035193;24715725;25505266;25880248;26375851;26992070;27920218;28510447;28832583;28904123;29557506;29632711;29789417;30315122;31844290;32157095;32357974;32897882;32938616;32983136;33592498;33691108;33912179;33968037;33981976;33986552;34019948;34932366;35051231;35580925;36743691;36773065;37274081;38129426;38430517;38665916;5946626;6543331;8307007;9070917;9119384;9140401;9425221;9497260;9781039", "class_list": "glycogene", "function": "Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models., [RefSeq, PubMed]; Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]., [RefSeq]; Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study. 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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 514, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K672;B7Z6R0;D3DUF3", "ec_number_list": [ { "id": "5.4.2.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.8", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004615 phosphomannomutase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0043025 neuronal cell body;GO:0005737 cytoplasm", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:0006487 protein N-linked glycosylation;GO:0006013 mannose metabolic process;GO:0009298 GDP-mannose biosynthetic process;GO:0061728 GDP-mannose biosynthetic process from mannose", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "O15305-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100010000000.010.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WZ42-1", "uniprot_id": [ { "id": "TITIN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WZ42", "type": "external" } ], "mass": 3816030.0, "length": 34350, "protein_name": "Titin", "gene_name": "TTN", "organism": "Human", "refseq_name": "titin isoform IC", "refseq_ac": [ { "id": "NP_001254479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254479", "type": "external" } ], "gene_names_uniprotkb": "TTN", "gene_names_refseq": "CMD1G; CMH9; CMPD4; CMYO5; CMYP5; EOMFC; HMERF; LGMD2J; LGMDR10; MYLK5; SALMY; TMD; TTN", "protein_names_uniprotkb": "Titin; 2.7.11.1; Connectin; Rhabdomyosarcoma antigen MU-RMS-40.14", "protein_names_refseq": "connectin; rhabdomyosarcoma antigen MU-RMS-40.14; titin isoform IC", "tax_id": 9606, "disease": "atrial fibrillation (Disease Ontology:DOID:0060224); congenital myopathy 5 (Disease Ontology:DOID:0081341); autosomal recessive limb-girdle muscular dystrophy type 2J (Disease Ontology:DOID:0110283); hypertrophic cardiomyopathy 9 (Disease Ontology:DOID:0110315); dilated cardiomyopathy 1G (Disease Ontology:DOID:0110430); tibial muscular dystrophy (Disease Ontology:DOID:0111078); myofibrillar myopathy 9 (Disease Ontology:DOID:0111188); dilated cardiomyopathy (Disease Ontology:DOID:12930); coronary artery disease (Disease Ontology:DOID:3393); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:7273); (R-HSA-114608); (R-HSA-390522)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "10.1074/mcp.M114.046862;10051295;10462489;10581079;10747208;10850961;11237011;11525170;11717165;11788824;11846417;12145747;12432079;12444090;12482578;12785098;12891679;1435334;14583192;14630798;14676215;15297306;15802564;1582406;15967462;16407954;16410549;16465475;16537787;16949617;17344846;17444505;20220067;20625501;20634290;22706990;23033978;23283722;23481700;23640497;23764881;24715725;25173926;25367160;25576301;25645385;25810538;25813380;26154972;26374642;26758806;26992070;27862975;28411811;28436080;28832583;29237092;29242379;29343782;29351928;29557506;29632711;29760016;29786170;30059200;30062220;30192525;30315122;30379171;30410026;31217245;31637018;31844290;32350084;32357974;32387766;32488085;32502341;32523538;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33592498;33691108;33912179;34211107;34509645;35494241;36215666;36241641;37217939;38253038;40914422;41350704;6457647;7569978;7613868;7819249;8351016;8404852;8467233;8937992;9645487;9782056;9804419", "class_list": "", "function": "Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Recent titin data is reviewed and its implications for sarcomere architecture and elasticity, are discussed. Review article, [RefSeq, PubMed]; This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]., [RefSeq]; This suggests that the titin Z2-Zis1 domain can link filamins and alpha-actinin together in the periphery of the Z-line/dense bodies in a fashion that is conserved in smooth and striated muscles., [RefSeq, PubMed]", "predicted_glycosites": 17, "predicted_n_glycosites": 0, "predicted_o_glycosites": 17, "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": 23, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 23, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 23, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 32, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1071, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 10, "glyco_site_count": 40, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MTS7;A6NKB1;C9JQJ2;E7EQE6;E7ET18;K7ENY1;Q10465;Q10466;Q15598;Q2XUS3;Q32Q60;Q4U1Z6;Q4ZG20;Q6NSG0;Q6PDB1;Q6PJP0;Q7KYM2;Q7KYN4;Q7KYN5;Q7LDM3;Q7Z2X3;Q8TCG8;Q8WZ51;Q8WZ52;Q8WZ53;Q8WZB3;Q92761;Q92762;Q9UD97;Q9UP84;Q9Y6L9", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.1.30.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.30.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.15.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.15.1.1", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "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": "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": "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:0051371 muscle alpha-actinin binding;GO:0002020 protease binding;GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005516 calmodulin binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005576 extracellular region;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome", "go_biological_process": "GO:0035995 detection of muscle stretch;GO:0003009 skeletal muscle contraction;GO:0006936 muscle contraction;GO:0010628 positive regulation of gene expression;GO:0051592 response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "Q8WZ42-1", "record_type": "protein", "filter_code": "0000000.1100111.000010.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4A4-1", "uniprot_id": [ { "id": "AMPB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4A4", "type": "external" } ], "mass": 72596.0, "length": 650, "protein_name": "Aminopeptidase B", "gene_name": "RNPEP", "organism": "Human", "refseq_name": "aminopeptidase B isoform b", "refseq_ac": [ { "id": "NP_001306111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306111", "type": "external" } ], "gene_names_uniprotkb": "RNPEP; APB", "gene_names_refseq": "AP-B; APB; RNPEP", "protein_names_uniprotkb": "Aminopeptidase B; 3.4.11.6; AP-B; Arginine aminopeptidase; Arginyl aminopeptidase", "protein_names_refseq": "aminopeptidase B isoform b; aminopeptidase B; arginine aminopeptidase", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:6051)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "11237011;17081983;19608861;19651622;20068231;21406692;22898188;23186163;23301498;23481700;24366607;24715725;25418920;25502872;25530263;25576301;25880248;25997998;26078706;26311161;26992070;27600516;27920218;28063628;28218747;28228285;28514659;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;30315122;30524438;30779550;30833945;31154438;31222486;31530632;31844290;31848261;31937595;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33968037;34019948;34087483;34171305;34357683;34509645;34725712;34932366;35051231;35138101;35251023;35318648;36010968;36215666;36241641;36284347;37938771;38665916;40596516", "class_list": "", "function": "Cytosolic peptidases(puromycin-sensitive aminopeptidase (PSA), aminopeptidase B (APB) and pyroglutamyl-peptidase I (PGI) ) may be involved in colorectal carcinogenesis Publication Status: Online-Only, [RefSeq, PubMed]; Data indicate that the importance of hydrogen bonds in aminopeptidase B (Ap-B) is verified by the Y229H substitution, which preserves the enzyme activity., [RefSeq, PubMed]; Exopeptidase which selectively removes arginine and/or lysine residues from the N-terminus of several peptide substrates including Arg(0)-Leu-enkephalin, Arg(0)-Met-enkephalin and Arg(-1)-Lys(0)-somatostatin-14. Can hydrolyze leukotriene A4 (LTA-4) into leukotriene B4 (LTB-4) (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The substrate Angiotensin II, the enzymes aminopeptidases-A, B, M as well as IRAP were detected in the jejunal mucosa., [RefSeq, PubMed]; These results suggest a pathophysiological involvement of plasma peptidases and indicate that aminopeptidase activity can predict the course of first-episode psychosis patients, acting as a prognostic indicator, [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9BVM9;Q9H1D4;Q9NPT7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004177 aminopeptidase activity;GO:0004301 epoxide hydrolase activity;GO:0008235 metalloexopeptidase activity;GO:0070006 metalloaminopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9H4A4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43609-1", "uniprot_id": [ { "id": "SPY1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43609", "type": "external" } ], "mass": 35122.0, "length": 319, "protein_name": "Protein sprouty homolog 1", "gene_name": "SPRY1", "organism": "Human", "refseq_name": "protein sprouty homolog 1", "refseq_ac": [ { "id": "NP_001244967", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244967", "type": "external" } ], "gene_names_uniprotkb": "SPRY1", "gene_names_refseq": "SPRY1; hSPRY1", "protein_names_uniprotkb": "Protein sprouty homolog 1; Spry-1", "protein_names_refseq": "protein sprouty homolog 1; sprouty homolog 1, antagonist of FGF signaling; sprouty, Drosophila, homolog of, 1 (antagonist of FGF signaling); spry-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10252); (R-HSA-182971)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10514377;10652316;10953014;11237011;11823423;11894095;11983899;12072436;12218189;12234920;12593795;12593796;14505571;14533010;14985334;15021893;15117950;15465819;15475003;15701692;15962011;16407834;17389395;18083107;19054389;19814798;21376233;22223895;24935154;25263444;27726376;29242379;30524438;31844290;32157095;32350084;33298915;34357683;35251023;35716036;35933226;37014552;37121163;38054565;7541030;7542744;7657591;8621719;9458049", "class_list": "", "function": "Association between SPRY1 and TET3 in skin photoaging and natural aging mechanisms., [RefSeq, PubMed]; Circ_0099630 Participates in SPRY1-Mediated Repression in Periodontitis., [RefSeq, PubMed]; Increased SPRY1 expression activates NF-kappaB signaling and promotes pancreatic cancer progression by recruiting neutrophils and macrophages through CXCL12-CXCR4 axis., [RefSeq, PubMed]; Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (By similarity). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (By similarity)., [UniProtKB, UniProtKB]; Sprouty1 exerts a preventive effect on the initiation of psoriasis by inhibiting innate immune antimicrobial peptide cathelicidin and immunocytes., [RefSeq, PubMed]; Sprouty1 has a protective role in atherogenesis and modifies the migratory and inflammatory phenotype of vascular smooth muscle cells., [RefSeq, PubMed]; The bimodal regulation of epidermal growth factor signaling by human Sprouty proteins, [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "D3DNX6;Q6PNE0", "ec_number_list": [], "go_molecular_function": "GO:0004860 protein kinase inhibitor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0060940 epithelial to mesenchymal transition involved in cardiac fibroblast development;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O43609-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VU43-1", "uniprot_id": [ { "id": "MYOME_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VU43", "type": "external" } ], "mass": 265103.0, "length": 2346, "protein_name": "Myomegalin", "gene_name": "PDE4DIP", "organism": "Human", "refseq_name": "myomegalin isoform 9", "refseq_ac": [ { "id": "NP_001185763", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185763", "type": "external" } ], "gene_names_uniprotkb": "PDE4DIP; CMYA2; KIAA0454; KIAA0477; MMGL", "gene_names_refseq": "CMYA2; MMGL; PDE4DIP", "protein_names_uniprotkb": "Myomegalin; Cardiomyopathy-associated protein 2; Phosphodiesterase 4D-interacting protein", "protein_names_refseq": "cardiomyopathy-associated protein 2; myomegalin isoform 9; myomegalin", "tax_id": 9606, "disease": "", "pathway": " (hsa:9659)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;11374908;12907457;17143517;18669648;22898188;23301498;23481700;23584533;25217626;25645385;25892735;27600516;27666745;27862975;28228285;28411811;28814570;28832583;29162697;29242379;29351928;29393594;29493099;29508533;29557506;29602958;29632711;29786170;30192525;30379171;30429286;30833945;31154438;31844290;31848261;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33968037;33981976;34087483;34105348;34289528;34509645;35051231;35494241;35580925;36010968;36284347;37355626;37938771;38665916", "class_list": "", "function": "Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction., [RefSeq, PubMed]; Functions as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes (By similarity)., [UniProtKB, UniProtKB]; MMGL-antibody is significantly with a favorable prognosis. Consequently, MMGL-anatibodies may be a useful tumor marker to diagnose and establish a prognosis in patients with esophageal squamous cell carcinoma., [RefSeq, PubMed]; PDE4DIP contributes to colorectal cancer growth and chemoresistance through modulation of the NF1/RAS signaling axis. Publication Status: Online-Only, [RefSeq, PubMed]; Participates in microtubule dynamics, promoting microtubule assembly. Depending upon the cell context, may act at the level of the Golgi apparatus or that of the centrosome (PubMed:25217626, PubMed:27666745, PubMed:28814570, PubMed:29162697). In complex with AKAP9, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with AKAP9, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension from the centrosome to the cell periphery, a crucial process for directed cell migration, mitotic spindle orientation and cell-cycle progression (PubMed:29162697)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]., [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": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 117, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MRM0;A0A0C4DFQ0;A2RU15;E9PL24;O75042;O75065;Q2YDC1;Q5VU42;Q5VU44;Q5VU45;Q5VU46;Q5VU47;Q5VU48;Q5VU49;Q68DU2;Q6AZ93;Q6PK88;Q86T40;Q86TB2;Q8N3W0;Q8TAY9;Q9HCP2;Q9HCP3;Q9HCP4;Q9HCP5", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0030016 myofibril", "go_biological_process": "GO:0007098 centrosome cycle;GO:0090063 positive regulation of microtubule nucleation;GO:0030953 astral microtubule organization;GO:0065003 protein-containing complex assembly;GO:1903358 regulation of Golgi organization", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q5VU43-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12004-1", "uniprot_id": [ { "id": "PCNA_HUMAN", "url": "https://www.uniprot.org/uniprot/P12004", "type": "external" } ], "mass": 28769.0, "length": 261, "protein_name": "DNA sliding clamp PCNA", "gene_name": "PCNA", "organism": "Human", "refseq_name": "DNA sliding clamp PCNA", "refseq_ac": [ { "id": "NP_002583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002583", "type": "external" } ], "gene_names_uniprotkb": "PCNA", "gene_names_refseq": "ATLD2; PCNA", "protein_names_uniprotkb": "DNA sliding clamp PCNA; Cyclin; PCNA; Proliferating cell nuclear antigen", "protein_names_refseq": "DNA polymerase delta auxiliary protein; DNA sliding clamp PCNA; cyclin", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); mucositis (Disease Ontology:DOID:0080178); ataxia-telangiectasia-like disorder 2 (Disease Ontology:DOID:0081385); stomach cancer (Disease Ontology:DOID:10534); sciatic neuropathy (Disease Ontology:DOID:11446); osteoporosis (Disease Ontology:DOID:11476); Lewy body dementia (Disease Ontology:DOID:12217); leiomyoma (Disease Ontology:DOID:127); obstructive jaundice (Disease Ontology:DOID:13603); hypothyroidism (Disease Ontology:DOID:1459); nephroblastoma (Disease Ontology:DOID:2154); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); invasive ductal carcinoma (Disease Ontology:DOID:3008); liver cancer (Disease Ontology:DOID:3571); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:5111); (R-HSA-110312); (R-HSA-110314); (R-HSA-110320); (R-HSA-1362277); (R-HSA-174411); (R-HSA-174414); (R-HSA-174417); (R-HSA-174437); (R-HSA-4615885); (R-HSA-5358565); (R-HSA-5358606); (R-HSA-5651801); (R-HSA-5655862); (R-HSA-5656121); (R-HSA-5656169); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6804114); (R-HSA-69091); (R-HSA-69166); (R-HSA-69183); (R-HSA-69205); (R-HSA-8866654)", "pathway_count": 28, "publication_count": 450, "publication_id_list": "10.1101/2023.09.13.557529;10078208;10228158;10329413;10454584;10460157;10473346;10524633;10536157;10559261;10562279;10597240;10656791;10656792;10660545;10660610;10692433;10744741;10751307;10759568;10760286;10801132;10856253;10862613;10887153;10938287;10959839;10984059;11005803;11006276;11058110;11250913;11274057;11376153;11441019;11473323;11485998;11574543;11595739;11601988;11687589;11698410;11709553;11724925;11740563;11784855;11809771;11809883;11884592;11917024;11959842;11988738;12145297;12149243;12200445;12226657;12444249;12522211;12584190;12766176;12782299;12786946;12832072;12930902;12952891;1328683;14517266;14636568;14657033;14676842;14990995;15007108;15014447;15066120;15149598;15186775;15189446;15199127;15215855;15215856;15225546;15254543;15475561;15510213;15543136;15574328;15590680;15616578;15657443;15916957;15931174;15989970;16139798;16143102;16188885;16246722;16307923;16337601;16344468;16357261;16464020;16510448;16531995;16611994;1671046;16772293;16793375;16819516;1682322;16855289;16868077;16873062;16949367;17000769;17043239;17081983;17108083;17115032;17130289;17172876;17183683;17426132;17466625;17466626;17512402;17517887;17531812;17531815;17697703;17719541;17720710;17726030;17948053;17984070;18079701;18242152;18316726;18326858;18342608;18359941;18381449;18394993;18499658;18593712;18703516;18719106;18794347;18946085;18948756;19074197;19153606;19170759;19208625;19223468;19228687;19279666;19336415;19410543;19419956;19443450;19492058;19596686;19608861;19723507;1974050;19940136;19941829;19995904;20008555;20112406;20129063;20147293;20154325;20159558;20159559;20160730;20164194;20227374;20457750;20460379;20551483;20571119;20660785;20663916;20713735;20733054;20952260;20970388;21143968;21167178;21203937;21282463;21329877;21396873;21496642;21498570;21549307;21554500;21554508;21561855;21628590;2165567;21791603;21937421;22021426;22081108;22118461;22148433;22153967;22179786;22277660;22424782;22457066;22460582;22464730;22521144;22544926;22634751;22645359;22681887;22700975;22704558;22705370;22721435;22759634;22772988;22859295;22859296;22869377;22902628;22952233;23000965;23042605;23042607;23065663;23143872;23301498;23391514;23481700;23485469;23593430;23593472;23604072;23622243;23677613;23686288;23711367;23731732;23840062;24038470;24096481;24115439;24366607;24402227;24449906;24485656;24561620;24648516;24662292;24695737;24714562;24715725;24768535;24782567;24807418;24911150;24939902;24979766;25030448;25114211;25170678;25218447;25367160;25418920;25502872;25505266;25576301;25645385;2565339;25732820;25755297;25772364;25810538;25880248;25892735;25936802;26086376;26154972;26210183;26216882;26223641;26344566;26350214;26375851;26408825;26711259;26711499;26728094;26760506;26811146;26992070;27084448;27462463;27569044;27597759;27798111;27846572;27849570;27862975;27906959;28073635;28102297;28191891;2842325;28621305;2882422;2882507;28904123;28951215;29290612;29437277;29493099;29532871;29557506;29930882;3004351;30315122;30410026;30429286;30554877;31217245;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34405274;34433824;34509645;34725712;34932366;35008409;35051231;35083852;35138101;35318648;35561310;35580925;35585232;35849344;36010968;36215666;36241641;36284347;36581221;37014751;37218877;37938771;38459011;38648458;38665916;38669181;38687509;38713100;39291733;3941892;39894887;40596516;40914422;40930100;7378348;7623816;7700386;7711022;7713898;7784094;7876218;7929342;7973727;8050359;8078911;8104944;8114698;8128251;8131753;8144677;8288595;8505312;8618861;8625414;8658138;8700224;8751446;8805365;8861913;8943353;8954124;8991089;9020173;9081985;9099749;9191022;9214649;9294177;9302295;9305916;9428522;9430682;9469823;9520412;9566895;9649448;9659898;9660172;9662327;9677427;9699634;9716411;9778043;9780000;9822671;9822680;9875289;9882630", "class_list": "", "function": "Confers DNA tethering and processivity to DNA polymerases and other proteins (PubMed:24695737, PubMed:24939902, PubMed:35585232). Auxiliary protein of DNA polymerase delta and epsilon, is involved in the control of DNA replication by increasing the polymerases' processivity during elongation of the leading strand (PubMed:35585232). Induces a robust stimulatory effect on the 3'-5' exonuclease and 3'-phosphodiesterase, but not apurinic-apyrimidinic (AP) endonuclease, APEX2 activities. Has to be loaded onto DNA in order to be able to stimulate APEX2. Plays a key role in DNA damage response (DDR) by being conveniently positioned at the replication fork to coordinate DNA replication with DNA repair and DNA damage tolerance pathways (PubMed:24939902). Acts as a loading platform to recruit DDR proteins that allow completion of DNA replication after DNA damage and promote postreplication repair: monoubiquitinated PCNA leads to recruitment of translesion (TLS) polymerases, while 'Lys-63'-linked polyubiquitination of PCNA is involved in error-free pathway and employs recombination mechanisms to synthesize across the lesion (PubMed:24695737)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cryo-EM reveals a nearly complete PCNA loading process and unique features of the human alternative clamp loader CTF18-RFC., [RefSeq, PubMed]; DNAJC24 acts directly with PCNA and promotes malignant progression of LUAD by activating phosphorylation of AKT., [RefSeq, PubMed]; EIF3B stabilizes PCNA by counteracting SYVN1-mediated ubiquitination to serve as a promotor in cholangiocarcinoma., [RefSeq, PubMed]; Expression of CD44, PCNA and E-cadherin in pterygium tissues., [RefSeq, PubMed]; Polyubiquitinated PCNA triggers SLX4-mediated break-induced replication in alternative lengthening of telomeres (ALT) cancer cells., [RefSeq, PubMed]; The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [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, "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 18, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R897;D3DW02", "ec_number_list": [], "go_molecular_function": "GO:0030337 DNA polymerase processivity factor activity;GO:0032139 dinucleotide insertion or deletion binding;GO:0003682 chromatin binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0030894 replisome;GO:0043626 PCNA complex;GO:0070557 PCNA-p21 complex;GO:0043596 nuclear replication fork;GO:0005634 nucleus", "go_biological_process": "GO:0006272 leading strand elongation;GO:0007507 heart development;GO:0030855 epithelial cell differentiation;GO:0046686 response to cadmium ion;GO:0006298 mismatch repair", "synthesized_glycan_count": 0, "hit_score": 45.5, "record_id": "P12004-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14D33-1", "uniprot_id": [ { "id": "RTP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14D33", "type": "external" } ], "mass": 60488.0, "length": 572, "protein_name": "Receptor-transporting protein 5", "gene_name": "RTP5", "organism": "Human", "refseq_name": "receptor-transporting protein 5", "refseq_ac": [ { "id": "NP_776182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776182", "type": "external" } ], "gene_names_uniprotkb": "RTP5; C2orf85; CXXC11; Z3CXXC5", "gene_names_refseq": "C2orf85; CXXC11; RTP5; Z3CXXC5", "protein_names_uniprotkb": "Receptor-transporting protein 5; 3CxxC-type zinc finger protein 5; CXXC-type zinc finger protein 11", "protein_names_refseq": "3CxxC-type zinc finger protein 5; CXXC finger protein 11; CXXC-type zinc finger protein 11; receptor (chemosensory) transporter protein 5 (putative); receptor-transporting protein 5; zinc finger, 3CxxC-type 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:285093)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;23033978;23481700;29557506;30779550;32938616;33392160;35051231;36010968;37217939", "class_list": "", "function": "", "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "Q8N2A5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031849 olfactory receptor binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006612 protein targeting to membrane;GO:0051205 protein insertion into membrane;GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q14D33-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPJ6-1", "uniprot_id": [ { "id": "MED4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPJ6", "type": "external" } ], "mass": 29745.0, "length": 270, "protein_name": "Mediator of RNA polymerase II transcription subunit 4", "gene_name": "MED4", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 4 isoform 2", "refseq_ac": [ { "id": "NP_001257558", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257558", "type": "external" } ], "gene_names_uniprotkb": "MED4; ARC36; DRIP36; HSPC126; VDRIP", "gene_names_refseq": "ARC36; DRIP36; HSPC126; MED4; TRAP36; VDRIP", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 4; ARC36; Activator-recruited cofactor 36 kDa component; DRIP36; Mediator complex subunit 4; TRAP/SMCC/PC2 subunit p36 subunit; Vitamin D3 receptor-interacting protein complex 36 kDa component", "protein_names_refseq": "activator-recruited cofactor 36 kDa component; mediator of RNA polymerase II transcription subunit 4 isoform 2; mediator of RNA polymerase II transcription subunit 4; mediator, 34-kD subunit, homolog; vitamin D receptor-interacting protein, 36-kD; vitamin D3 receptor-interacting protein complex 36 kDa component", "tax_id": 9606, "disease": "cervical cancer (Disease Ontology:DOID:4362)", "pathway": " (hsa:29079); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 132, "publication_id_list": "10075656;10235266;10235267;10330177;10425206;10558993;10777541;10835357;10882111;10882139;11027271;11095972;11237011;11267664;11395415;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12829629;1310260;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15635043;15850785;15896744;15919796;15989967;16380219;16606702;16719718;16972786;17011499;17761950;17980149;18420935;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19369195;19690332;19710929;19934321;20101261;20110263;20410276;2163759;22090124;23239344;23301498;23481700;24196956;24366607;24715725;25854864;26154972;26992070;27920218;28510447;28832583;28834231;29242379;29393594;29557506;29786170;30379171;30524438;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33329381;33592498;33717175;33912179;33936100;33968037;34019948;34509645;35051231;35561310;35580925;36010968;36102648;36241641;36284347;37217939;7685352;7892212;8183939;8325954;8521497;8521498;8643605;8647822;8706692;8769649;8770873;8970730;9012850;9065481;9171241;9454824;9637681;9653119;9744270;9748239;9836620", "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, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "B4DX67;Q53GB4;Q53H68;Q5T912;Q6FHC4;Q6IA79;Q9BS95;Q9NYR5", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0046966 nuclear thyroid hormone receptor binding;GO:0003712 transcription coregulator activity;GO:0042809 nuclear vitamin D receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0016592 mediator complex;GO:0070847 core 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:0045893 positive regulation of DNA-templated transcription;GO:0006366 transcription by RNA polymerase II;GO:0032968 positive regulation of transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "Q9NPJ6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95236-1", "uniprot_id": [ { "id": "APOL3_HUMAN", "url": "https://www.uniprot.org/uniprot/O95236", "type": "external" } ], "mass": 44278.0, "length": 402, "protein_name": "Apolipoprotein L3", "gene_name": "APOL3", "organism": "Human", "refseq_name": "apolipoprotein L3 isoform 2", "refseq_ac": [ { "id": "NP_055164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055164", "type": "external" } ], "gene_names_uniprotkb": "APOL3", "gene_names_refseq": "APOL3; APOLIII; CG121; CG12_1; apoL-III", "protein_names_uniprotkb": "Apolipoprotein L3; ApoL-III; Apolipoprotein L-III; CG12_1; TNF-inducible protein CG12-1", "protein_names_refseq": "TNF-inducible protein CG12-1; apolipoprotein L, 3; apolipoprotein L-III; apolipoprotein L3 isoform 2", "tax_id": 9606, "disease": "kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:80833)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10233894;11237011;11290834;11374903;11944986;18477386;23481700;25418920;25502872;25505266;25576301;25892735;26154972;26375851;26811146;26992070;27452731;27920218;28218747;28228285;28832583;28904123;29242379;29314611;29331515;29351928;29393594;29437277;29557506;29632046;29632711;29786170;30315122;30410026;30429286;31217245;31844290;32157095;32187552;32265295;32350084;32357974;32488085;32502341;32530132;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34087483;34357683;34437126;34561969;35051231;35154160;35561310;35580925;36923931;37938771;39302247", "class_list": "", "function": "A human apolipoprotein L with detergent-like activity kills intracellular pathogens., [RefSeq, PubMed]; APOL1 C-Terminal Variants May Trigger Kidney Disease through Interference with APOL3 Control of Actomyosin., [RefSeq, PubMed]; APOL3 has been found only in humans and African green monkeys, [RefSeq, PubMed]; Apolipoprotein L3 enhances CD8+ T cell antitumor immunity of colorectal cancer by promoting LDHA-mediated ferroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles., [UniProtKB]; The function of apolipoproteins L (APOLs): relevance for kidney disease, neurotransmission disorders, cancer and viral infection. Review article, [RefSeq, PubMed]; This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B1AHI4;B1AHI5;Q5U5N4;Q9BQ82;Q9BQA3", "ec_number_list": [], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0042157 lipoprotein metabolic process;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0006869 lipid transport", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "O95236-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51648-1", "uniprot_id": [ { "id": "AL3A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P51648", "type": "external" } ], "mass": 54848.0, "length": 485, "protein_name": "Aldehyde dehydrogenase family 3 member A2", "gene_name": "ALDH3A2", "organism": "Human", "refseq_name": "aldehyde dehydrogenase family 3 member A2 isoform 2", "refseq_ac": [ { "id": "NP_000373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000373", "type": "external" } ], "gene_names_uniprotkb": "ALDH3A2; ALDH10; FALDH", "gene_names_refseq": "ALDH10; ALDH3A2; FALDH; SLS", "protein_names_uniprotkb": "Aldehyde dehydrogenase family 3 member A2; 1.2.1.3; 1.2.1.94; Aldehyde dehydrogenase 10; Fatty aldehyde dehydrogenase; Microsomal aldehyde dehydrogenase", "protein_names_refseq": "aldehyde dehydrogenase 10; aldehyde dehydrogenase family 3 member A2 isoform 2; aldehyde dehydrogenase family 3 member A2; fatty aldehyde dehydrogenase; microsomal aldehyde dehydrogenase", "tax_id": 9606, "disease": "Sjogren-Larsson syndrome (Disease Ontology:DOID:14501)", "pathway": " (hsa:224); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10577908;10664463;10792573;11237011;11784792;11940653;12244061;12842009;14732713;15738000;16481321;18035827;18182499;18996843;19103606;19136556;20811643;22633490;23186163;24275569;24690281;24715725;25047030;25576301;25645385;25888806;26969432;26992070;27452731;27726376;28832583;28904123;29242379;29393594;29557506;29632046;30192525;30315122;30429286;31844290;31871319;32157095;32350084;32387766;32930514;32938616;33148208;33298915;33537174;33592498;33691108;33912179;33968037;33981976;34082469;34087483;34171305;34405274;34509645;35051231;35580925;36010968;36215666;36241641;37217939;37247796;37938771;8528251;9027499;9070922;9133646;9254849;9531558;9662422;9829906", "class_list": "", "function": "Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:18035827, PubMed:18182499, PubMed:22633490, PubMed:25047030, PubMed:9133646, PubMed:9662422). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis. Erratum:[BMC Cancer. 2020 Nov 24;20(1):1141. doi: 10.1186/s12885-020-07659-7. PMID: 33234125] Publication Status: Online-Only, [RefSeq, PubMed]; Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating ferroptosis sensitivity., [RefSeq, PubMed]; Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjogren-Larsson syndrome patients., [RefSeq, PubMed]; Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation., [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": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 3, "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": "Q6I9T3;Q93011;Q96J37", "ec_number_list": [ { "id": "3.4.17.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.22", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.2.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.19", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "1.2.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.47", "type": "external" }, { "id": "1.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.46", "type": "external" }, { "id": "1.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.31", "type": "external" }, { "id": "1.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.8", "type": "external" }, { "id": "1.2.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.94", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0004028 3-chloroallyl aldehyde dehydrogenase activity;GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0046577 long-chain-alcohol oxidase activity;GO:0050061 long-chain fatty aldehyde dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0046458 hexadecanal metabolic process;GO:0006631 fatty acid metabolic process;GO:0008544 epidermis development;GO:0006081 aldehyde metabolic process;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "P51648-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47897-1", "uniprot_id": [ { "id": "SYQ_HUMAN", "url": "https://www.uniprot.org/uniprot/P47897", "type": "external" } ], "mass": 87799.0, "length": 775, "protein_name": "Glutamine--tRNA ligase", "gene_name": "QARS1", "organism": "Human", "refseq_name": "glutamine--tRNA ligase isoform b", "refseq_ac": [ { "id": "NP_001259002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259002", "type": "external" } ], "gene_names_uniprotkb": "QARS1; QARS", "gene_names_refseq": "GLNRS; MSCCA; PRO2195; QARS1; QARS", "protein_names_uniprotkb": "Glutamine--tRNA ligase; 6.1.1.18; GlnRS; Glutaminyl-tRNA synthetase", "protein_names_refseq": "glutamine--tRNA ligase isoform b; glutamine--tRNA ligase; glutamine-tRNA synthetase", "tax_id": 9606, "disease": "sciatic neuropathy (Disease Ontology:DOID:11446); diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome (MONDO:MONDO:0014335)", "pathway": " (hsa:5859); (R-HSA-2408522); (R-HSA-379716); (R-HSA-379726); (R-HSA-9856649)", "pathway_count": 5, "publication_count": 184, "publication_id_list": "10.1101/2023.09.13.557529;10329163;10567402;10611221;10655586;10673502;10684970;10764807;10791971;10828066;11027551;11237011;11347887;11714285;11829477;11840323;11858721;11891324;11912130;11930005;12690580;1373391;14654843;14660560;14671330;14975237;15118077;15226305;15274629;15507434;15592455;15779907;16014379;16034366;16055448;16300924;16429158;16661668;16661782;16822840;16906134;1698554;17384640;1748288;1761529;17623675;17847012;18083107;18644867;18669648;19131329;19289464;19524539;19608861;20068231;20460180;21486943;21965087;22223895;22647378;23159739;23186163;23190890;23207919;23301498;24656866;24714562;24715725;25248477;25288775;25576301;25595898;25645385;25880248;25892735;26869582;26992070;27090790;27128622;27600516;27846572;27862975;27869121;27920218;28218747;28228285;28394346;28510447;28649982;28832583;28834231;28904123;29242379;29295999;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30397120;30410026;30429286;30484775;30804224;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32636443;32870666;32897882;32938616;32983136;33043033;33141586;33256324;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33744299;33912179;33936100;33968037;33981976;34019948;34140478;34171305;34357683;34405274;34509645;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35494241;35580925;36010968;36215666;36241641;36284347;37770430;38665916;40914422;4130389;5338216;6022858;656444;7118399;7654687;7755634;7958932;8052601;8078941;8188258;8336698;8428657;8449960;9199364;9278442;9353119;9421509;9431993;9440696;9466989;9560246;9676189;9760192;9973413", "class_list": "", "function": "Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]., [RefSeq]; Glutamine--tRNA ligase (PubMed:26869582). Plays a critical role in brain development (PubMed:24656866)., [UniProtKB, PubMed, PubMed]; [QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature]. Review article, [RefSeq, 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DWJ2", "ec_number_list": [ { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "6.1.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.12", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "6.1.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.18", "type": "external" }, { "id": "6.1.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.19", "type": "external" }, { "id": "6.1.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.10", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "6.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.6", "type": "external" }, { "id": "6.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.4", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0004860 protein kinase inhibitor activity;GO:0004819 glutamine-tRNA ligase activity;GO:0004812 aminoacyl-tRNA ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0017101 aminoacyl-tRNA synthetase multienzyme complex;GO:0032991 protein-containing complex", "go_biological_process": "GO:0045892 negative regulation of DNA-templated transcription;GO:0007420 brain development;GO:0006418 tRNA aminoacylation for protein translation;GO:2001234 negative regulation of apoptotic signaling pathway;GO:0006425 glutaminyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "P47897-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWT0-1", "uniprot_id": [ { "id": "ARCH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWT0", "type": "external" } ], "mass": 19491.0, "length": 167, "protein_name": "tRNA-splicing ligase-activating factor archease", "gene_name": "ZBTB8OS", "organism": "Human", "refseq_name": "tRNA-splicing ligase-activating factor archease isoform 3", "refseq_ac": [ { "id": "NP_001295065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295065", "type": "external" } ], "gene_names_uniprotkb": "ZBTB8OS; ARCH", "gene_names_refseq": "ARCH2; ARCH; ZBTB8OS", "protein_names_uniprotkb": "tRNA-splicing ligase-activating factor archease; 2.7.7.-; Zinc finger and BTB domain-containing opposite strand protein 8", "protein_names_refseq": "archease (ARCH); archease-like protein; protein archease; tRNA-splicing ligase-activating factor archease isoform 3; tRNA-splicing ligase-activating factor archease; zinc finger and BTB domain-containing opposite strand protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:339487); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10444065;11237011;11455963;11727826;11871657;12138183;12526808;12711671;12729736;15109492;15162483;15317868;16361254;16710424;17204286;17224653;18226598;18809514;18984158;21311021;21450806;21559454;21593607;22645359;22944664;23481700;2470644;24715725;24870230;25378478;25576301;25640237;25645385;25849199;25880248;26375851;26483401;26648538;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28904123;29242379;29437277;29493099;29786170;30315122;30410026;30524438;30833945;31154438;31844290;32157095;32234548;32357974;32897882;32938616;33141586;33592498;33633747;33717175;33968037;33981976;34171305;34185709;34932366;35051231;36010968;36284347;37938771;38493148;6930639;7759547;7828588;9512417;9660920", "class_list": "", "function": "ARCH mutation is associated with chronic myelomonocytic leukemia., [RefSeq, PubMed]; Activation factor of RTCB, the catalytic subunit of the tRNA-splicing ligase complex (tRNA-LC), which is involved in the enzyme-dependent maturation of intron-containing pre-tRNAs. Functions downstream of the tRNA-splicing endonuclease that removes introns, ligating the two generated halves via phosphodiester bond formation. Catalyzes the GTP-dependent activation of RTCB, both proteins forming a composite active site coordinating GTP and metal ions to enable the guanylylation of RTCB a prerequisite to undergo multiple catalytic cycles (PubMed:24870230, PubMed:38493148). Also required for the activation of RTCB in non-canonical, spliceosome-independent, cytoplasmic splicing of XBP1 mRNAs during the unfolded protein response (UPR). Upon endoplasmic reticulum (ER) stress, the endoribonuclease IRE1/ERN1 excises a short intron, generating free exon ends that are aligned by RNA-intrinsic, zipper-like stem-loop structures. These exon ends are then recognized and ligated by RTCB. This splicing event yields the active XBP1s transcription factor, which induces genes required to resolve protein folding defects in the endoplasmic reticulum (PubMed:25378478, PubMed:26483401, PubMed:38493148)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Archease (also called ZBTB8OS), a protein of unknown function, is required for full activity of the human tRNA ligase complex and, in cooperation with DDX1, facilitates the formation of an RTCB-guanylate intermediate central to mammalian RNA ligation, [RefSeq, PubMed]; RTCB, the catalytic subunit of the tRNA ligase complex, and its co-factor archease mediate XBP1 mRNA splicing both in vitro and in vivo., [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": 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": 2, "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": "A8K0B5;Q5TGK5;Q6PDA1;Q8IWS9;Q8NEV6;Q8NEV7", "ec_number_list": [ { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "6.5.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.8", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0044600 protein guanylyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0072669 tRNA-splicing ligase complex;GO:1902494 catalytic complex", "go_biological_process": "GO:0070054 mRNA splicing, via endonucleolytic cleavage and ligation;GO:0036498 IRE1-mediated unfolded protein response;GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation;GO:0000394 RNA splicing, via endonucleolytic cleavage and ligation;GO:0000968 tRNA exon ligation", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q8IWT0-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12959-1", "uniprot_id": [ { "id": "DLG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12959", "type": "external" } ], "mass": 100455.0, "length": 904, "protein_name": "Disks large homolog 1", "gene_name": "DLG1", "organism": "Human", "refseq_name": "disks large homolog 1 isoform 1", "refseq_ac": [ { "id": "NP_001091894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091894", "type": "external" } ], "gene_names_uniprotkb": "DLG1", "gene_names_refseq": "DLG1; DLGH1; SAP-97; SAP97; hdlg", "protein_names_uniprotkb": "Disks large homolog 1; SAP-97; SAP97; Synapse-associated protein 97; hDlg", "protein_names_refseq": "dJ1061C18.1.1; discs large homolog 1, scribble cell polarity complex component; disks large homolog 1 isoform 1; presynaptic protein SAP97; synapse-associated protein 97", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); developmental disorder of mental health (Disease Ontology:DOID:0060037); benign neoplasm (Disease Ontology:DOID:0060072); chromosome 3q29 microdeletion syndrome (Disease Ontology:DOID:0060419); chronic lymphocytic leukemia (Disease Ontology:DOID:1040); stomach cancer (Disease Ontology:DOID:10534); IgA vasculitis (Disease Ontology:DOID:11123); prostatic hypertrophy (Disease Ontology:DOID:11132); nephrotic syndrome (Disease Ontology:DOID:1184); urinary schistosomiasis (Disease Ontology:DOID:1394); peptic esophagitis (Disease Ontology:DOID:13976); Parkinson's disease (Disease Ontology:DOID:14330); major depressive disorder (Disease Ontology:DOID:1470); cancer (Disease Ontology:DOID:162); asthma (Disease Ontology:DOID:2841); invasive ductal carcinoma (Disease Ontology:DOID:3008); food allergy (Disease Ontology:DOID:3044); Churg-Strauss syndrome (Disease Ontology:DOID:3049); carcinoma (Disease Ontology:DOID:305); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); middle cerebral artery infarction (Disease Ontology:DOID:3525); eosinophilic gastroenteritis (Disease Ontology:DOID:4031); allergic rhinitis (Disease Ontology:DOID:4481); esophageal cancer (Disease Ontology:DOID:5041); kidney disease (Disease Ontology:DOID:557); rheumatoid arthritis (Disease Ontology:DOID:7148); osteoarthritis (Disease Ontology:DOID:8398); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); systemic lupus erythematosus (Disease Ontology:DOID:9074); status asthmaticus (Disease Ontology:DOID:9362); pulmonary eosinophilia (Disease Ontology:DOID:9498)", "pathway": " (hsa:1739); (R-HSA-399719); (R-HSA-438066); (R-HSA-442982); (R-HSA-447038); (R-HSA-451308); (R-HSA-5673001); (R-HSA-8849932); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244)", "pathway_count": 11, "publication_count": 198, "publication_id_list": "10.1101/2023.09.13.557529;10373510;10508167;10557085;10656683;10779557;10859302;10869344;11027663;11090077;11136978;11237011;11313946;11546808;11602598;11702783;11723125;12032311;12094235;12121613;12445884;12766944;12807427;12807908;12815021;12933808;14506247;14622581;14699157;14707138;15021905;15263016;15356145;1545823;15546878;16495444;16519681;16627759;16630835;16637659;16684964;17081983;1716764;17237226;17332497;17389395;17855605;17980554;17997397;17998941;18083107;18220336;18227064;18311135;18452278;18669648;18775330;1898771;19066288;19118189;19213956;19279408;19342380;19651622;19681166;19690332;19901323;19920141;20068231;20166139;20478380;20600927;20605917;20702775;21102635;21136679;21372320;21595829;21779497;21779505;21849460;21993244;21993680;22569528;22589270;22750304;23103841;23186163;23303910;23443682;23481700;23575685;23676497;24275569;24503895;24714562;24897931;24937142;25098293;25219551;25268382;25418920;25558062;25576301;25645385;25781681;26085527;26154972;26321637;26375851;26992070;27397612;27846572;27862975;27920218;28228285;28449373;28778966;28832583;28834231;28904123;29242379;29331515;29508533;29557506;29741879;29786170;30315122;30410026;30429286;30524438;30590034;30833945;31135801;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34078123;34171305;34185709;34357683;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347;37288673;37644438;38253038;38341127;39302247;6148751;7477295;7569905;7809086;7935463;7937897;7972015;8052307;8394845;8493579;8601796;8638125;8665852;8710374;8757139;8782898;8922391;8939933;9192623;9604935;9625352;9648857;9927426", "class_list": "", "function": "Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. Promotes epithelial cell layer barrier function via maintaining cell-cell adhesion (By similarity). May also play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane (PubMed:23676497)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Genetic contribution of synapse-associated protein 97 to cerebellar functional connectivity changes in first-episode schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]; NONO promotes gallbladder cancer cell proliferation by enhancing oncogenic RNA splicing of DLG1 through interaction with IGF2BP3/RBM14., [RefSeq, PubMed]; Studies represent first analyses of 5'-UTR of DLG1 transcripts; data suggest that differential expression of alternatively spliced 5'-UTRs with different translational properties result in changes in DLG1 expression., [RefSeq, PubMed]; The human discs large protein 1 interacts with and maintains connexin 43 at the plasma membrane in keratinocytes., [RefSeq, PubMed]; This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018]., [RefSeq]; We identify the functions of the two alternatively spliced regions. The N-terminal alternatively spliced region is capable of binding several SH3 domains and also moderates the level of protein oligomerization., [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": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 37, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 32, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A5YKK7;B4DGU1;B4DGZ8;B7ZMM0;B9EIQ5;D3DXB8;D3DXB9;E7EWL7;E9PG21;Q12958", "ec_number_list": [], "go_molecular_function": "GO:0004385 GMP kinase activity;GO:0060090 molecular adaptor activity;GO:0019901 protein kinase binding;GO:0015459 potassium channel regulator activity;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0035748 myelin sheath abaxonal region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential;GO:1902473 regulation of protein localization to synapse;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007015 actin filament organization;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 20.7, "record_id": "Q12959-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30838-1", "uniprot_id": [ { "id": "AL3A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30838", "type": "external" } ], "mass": 50395.0, "length": 453, "protein_name": "Aldehyde dehydrogenase, dimeric NADP-preferring", "gene_name": "ALDH3A1", "organism": "Human", "refseq_name": "aldehyde dehydrogenase, dimeric NADP-preferring isoform 1", "refseq_ac": [ { "id": "NP_000682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000682", "type": "external" } ], "gene_names_uniprotkb": "ALDH3A1; ALDH3", "gene_names_refseq": "ALDH3A1; ALDH3; ALDHIII", "protein_names_uniprotkb": "Aldehyde dehydrogenase, dimeric NADP-preferring; 1.2.1.5; ALDHIII; Aldehyde dehydrogenase 3; Aldehyde dehydrogenase family 3 member A1", "protein_names_refseq": "aldehyde dehydrogenase isozyme 3; aldehyde dehydrogenase type III; aldehyde dehydrogenase, dimeric NADP-preferring isoform 1; stomach aldehyde dehydrogenase", "tax_id": 9606, "disease": "Sjogren-Larsson syndrome (Disease Ontology:DOID:14501); arteriosclerosis (Disease Ontology:DOID:2349)", "pathway": " (hsa:218); (R-HSA-211945)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10445380;10945627;11154734;11237011;11422004;12725862;12732646;1351198;15350128;15492766;15523003;15535985;16614850;16765324;1737758;17400359;18254726;18256025;18285471;1905102;19053771;19588076;19608861;19764817;20007405;20068231;20177059;2037078;20422440;20542992;22021038;22700792;22813719;23616950;23953689;24423752;24677340;24900196;25144769;25425164;25446851;25892735;25923589;26853435;27846572;28834231;2897122;29242379;29393594;30484775;30833945;31844290;32152082;32157095;32171872;32187464;32205870;32210741;32297178;32387766;33596621;33912179;33968037;34171305;34509645;34932366;35051231;35188323;35561310;35580925;36241641;36284347;37730658;7980644;8493892;8985016;9169443;9250352;9367528;9653080", "class_list": "", "function": "ALDH3A1 overexpression in OSCC inhibits inflammation via phospho-Ser727 at STAT3 in tumor-associated macrophages., [RefSeq, PubMed]; ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde (Probable). They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation (Probable). Oxidizes medium and long chain aldehydes into non-toxic fatty acids (PubMed:1737758). Preferentially oxidizes aromatic aldehyde substrates (PubMed:1737758). Comprises about 50 percent of corneal epithelial soluble proteins (By similarity). May play a role in preventing corneal damage caused by ultraviolet light (By similarity)., [UniProtKB, UniProtKB, PubMed]; ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. Oxidizes medium and long chain aldehydes into non-toxic fatty acids. Preferentially oxidizes aromatic aldehyde substrates. Comprises about 50 percent of corneal epithelial soluble proteins. May play a role in preventing corneal damage caused by ultraviolet light., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]., [RefSeq]; Association with Corneal Remodeling Related Genes, ALDH3A1, LOX, and SPARC Genes Variations in Korean Keratoconus Patients., [RefSeq, PubMed]; Exosomes carrying ALDOA and ALDH3A1 from irradiated lung cancer cells enhance migration and invasion of recipients by accelerating glycolysis., [RefSeq, PubMed]; Hypoxia-induced ALDH3A1 promotes the proliferation of non-small-cell lung cancer by regulating energy metabolism reprogramming. 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, "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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "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": "A8K828;Q9BT37", "ec_number_list": [ { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.2.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.19", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "1.2.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.47", "type": "external" }, { "id": "1.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.46", "type": "external" }, { "id": "1.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.31", "type": "external" }, { "id": "1.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.8", "type": "external" }, { "id": "1.2.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.94", "type": "external" } ], "go_molecular_function": "GO:0004028 3-chloroallyl aldehyde dehydrogenase activity;GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity;GO:0018479 benzaldehyde dehydrogenase (NAD+) activity;GO:0008106 alcohol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006081 aldehyde metabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P30838-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95996-1", "uniprot_id": [ { "id": "APCL_HUMAN", "url": "https://www.uniprot.org/uniprot/O95996", "type": "external" } ], "mass": 243949.0, "length": 2303, "protein_name": "Adenomatous polyposis coli protein 2", "gene_name": "APC2", "organism": "Human", "refseq_name": "adenomatous polyposis coli protein 2 isoform 1", "refseq_ac": [ { "id": "NP_005874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874", "type": "external" } ], "gene_names_uniprotkb": "APC2; APCL", "gene_names_refseq": "APC2; APCL; MRT74", "protein_names_uniprotkb": "Adenomatous polyposis coli protein 2; APC-like; Adenomatous polyposis coli protein-like", "protein_names_refseq": "APC2, WNT signaling pathway regulator; adenomatosis polyposis coli 2; adenomatous polyposis coli like; adenomatous polyposis coli protein 2 isoform 1; adenomatous polyposis coli protein 2", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); complex cortical dysplasia with other brain malformations 10 (Disease Ontology:DOID:0061143); familial adenomatous polyposis 1 (Disease Ontology:DOID:0080409); autosomal recessive intellectual developmental disorder 74 (Disease Ontology:DOID:0081218); Sotos syndrome 3 (Disease Ontology:DOID:0112104); intestinal cancer (Disease Ontology:DOID:10155); alcohol use disorder (Disease Ontology:DOID:1574); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:10297)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "10.1074/mcp.M114.046862;10021369;10551328;10644998;10646860;11237011;11691822;16959974;19413330;25645385;25753423;25813380;27600516;28832583;29120066;29557506;31154438;31492838;31585108;31844290;31848261;32157095;32488085;32502341;32983136;34087483;34637096;34927228;35051231;35494241;36010968;36215666;37217939;37657306;38523034;9823329", "class_list": "", "function": "High miR-3648 expression and low APC2 expression are associated with shorter survival and tumor progression in NSCLC., [RefSeq, PubMed]; Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders., [RefSeq, PubMed]; Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders., [RefSeq, PubMed]; Stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases (PubMed:25753423). May also function in Wnt signaling by promoting the rapid degradation of CTNNB1 (PubMed:10021369, PubMed:11691822, PubMed:9823329)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]., [RefSeq]; What are the roles of global DNA and APC 2 gene promotor hypermethylation in multiple myeloma?, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 8, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q05BW4;Q9UBZ1;Q9UEM8;Q9UQJ8;Q9UQJ9;Q9Y632", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0008013 beta-catenin binding;GO:0045295 gamma-catenin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005884 actin filament", "go_biological_process": "GO:0001708 cell fate specification;GO:0007399 nervous system development;GO:0016477 cell migration;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "O95996-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00973-1", "uniprot_id": [ { "id": "OAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P00973", "type": "external" } ], "mass": 46029.0, "length": 400, "protein_name": "2'-5'-oligoadenylate synthase 1", "gene_name": "OAS1", "organism": "Human", "refseq_name": "2'-5'-oligoadenylate synthase 1 isoform 3", "refseq_ac": [ { "id": "NP_001027581", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027581", "type": "external" } ], "gene_names_uniprotkb": "OAS1; OIAS", "gene_names_refseq": "E18/E16; IFI-4; IMD100; OAS1; OIASI; OIAS", "protein_names_uniprotkb": "2'-5'-oligoadenylate synthase 1; (2-5')oligo(A) synthase 1; 2-5A synthase 1; 2.7.7.84; E18/E16; p46/p42 OAS", "protein_names_refseq": "(2-5')oligo(A) synthase 1; 2',5'-oligo A synthetase 1; 2'-5'-oligoadenylate synthase 1 isoform 3; 2'-5'-oligoadenylate synthase 1 isoform p42; 2'-5'-oligoadenylate synthase 1; 2'-5'-oligoadenylate synthetase 1, 40/46kDa; 2'-5'-oligoisoadenylate synthetase 1; 2-5A synthase 1; 2-5A synthetase 1; E16 (2'-5') oligo A synthetase", "tax_id": 9606, "disease": "immunodeficiency 100 (Disease Ontology:DOID:0061070)", "pathway": " (hsa:4938); (R-HSA-877300); (R-HSA-8983711); (R-HSA-909733)", "pathway_count": 4, "publication_count": 223, "publication_id_list": "10067896;10395669;10464285;10542297;10982844;10986460;11092454;11237011;11265282;11337497;11377645;11404376;11585831;11875071;11972023;11980899;11986302;12029096;12040185;12082089;12438563;12446674;12766484;12799444;12842042;12915721;1396683;14586410;14722222;14769151;15047845;1508672;15104674;15143187;15231837;15312780;15322115;15388922;15449939;15530433;15732009;15778442;16009940;16171819;16237089;16467876;1651324;16987978;17024523;17125875;17251292;1730654;17351669;17408844;17969444;18035202;18362138;18575461;18591661;18931074;19203244;19904482;19923450;20049711;20130243;20304997;20363976;20643137;21142819;2211721;23061660;23084743;23121362;23220500;23319625;23481700;2411547;2416561;24417533;24500209;2456211;24578532;24714562;24715725;24931123;25205466;25275129;25352621;25371710;25418920;25505266;25540362;25576301;25645385;25775560;25892109;25892735;26055709;26154972;26375851;26728094;26760998;26858407;26929215;26992070;27600516;27846572;27862975;27920218;28063628;2830497;28467828;28832583;28904123;29242379;29331515;29393594;29455859;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30484775;30485383;30833945;31154438;3121313;31844290;31848261;32032529;32113509;32157095;32265295;32350084;32357974;32502341;32511913;32574262;32661006;32758689;32862111;32983136;33117408;33141586;33189161;33193462;33239784;33298915;33396578;3350819;33592498;33633408;33691108;33717175;33936100;33968037;34087483;34145065;34171305;34185709;34211107;34357683;34581622;34932366;35051231;35154160;35318648;35580925;36241641;36538032;3753689;3754863;37938771;38658463;39319583;39334033;40010341;6162102;6190010;6348777;6548414;688397;7510216;7514165;7526154;7530745;7537377;7539425;7540766;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8197134;8232552;8483949;8530158;8550631;8605876;8621447;8631301;8702790;9096384;9111318;9121453;9143706;9242679;9334213;9407111;9660177;9847332;9861020;9880569", "class_list": "", "function": "Findings provide insights into the potential role of OAS1 polymorphisms in respiratory infection., [RefSeq, PubMed]; Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response (PubMed:34581622). In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Catalyzes the formation of 2'-5'-oligoadenylates (2-5A) from polymerization of ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication (PubMed:34145065, PubMed:34581622, PubMed:40010341). Involved in intercellular immune signaling that limits local spread of RNA virus infection and protects against tumorigenesis (PubMed:40010341). Can generate high levels of 2',5'-oligoadenylates in transformed cells, targeting them to innate and adaptive immunesurveillance mechanisms (PubMed:40010341). Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. The secreted form displays antiviral effect against vesicular stomatitis virus (VSV), herpes simplex virus type 2 (HSV-2), and encephalomyocarditis virus (EMCV) and stimulates the alternative antiviral pathway independent of RNase L., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Not prenylated at C-terminal, is diffusely localized and unable to initiate a detectable block to SARS-CoV-2 replication., [UniProtKB, PubMed]; Prevalence of the protective OAS1 rs10774671-G allele against severe COVID-19 in Moroccans: implications for a North African Neanderthal connection. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic value and molecular mechanisms of OAS1 in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Sequence motifs in OAS1 regulate polyadenylation, [RefSeq, PubMed]; The OAS1 p46 isoform localizes to the mitochondria. Publication Status: Online-Only, [RefSeq, PubMed]; This genetic polymorphism makes OAS1 an excellent candidate for a human gene that influences host susceptibility to viral infection., [RefSeq, PubMed]; This interferon-induced gene encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein plays a key role in innate cellular antiviral response, and has been implicated in other cellular processes like cell growth and apoptosis. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection, including SARS-CoV-2, and diabetes mellitus, type 1. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, May 2022]., [RefSeq]; When prenylated at C-terminal, acts as a double-stranded RNA (dsRNA) sensor specifically targeted to membranous replicative organelles in SARS coronavirus-2/SARS-CoV-2 infected cells where it binds to dsRNA structures in the SARS-CoV-2 5'-UTR and initiates a potent block to SARS-CoV-2 replication. Recognizes short stretches of dsRNA and activates RNase L. The binding is remarkably specific, with two conserved stem loops in the SARS-CoV-2 5'- untranslated region (UTR) constituting the principal viral target (PubMed:34581622). The same mechanism is necessary to initiate a block to cardiovirus EMCV (PubMed:34581622)., [UniProtKB, 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": 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": 9, "reported_glycation": 0, "reported_snv": 4, "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": "A8K4N8;F8VXY3;P04820;P29080;P29081;P78485;P78486;Q16700;Q16701;Q1PG42;Q3ZM01;Q53GC5;Q53YA4;Q6A1Z3;Q6IPC6;Q6P7N9;Q96J61", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "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": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "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": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.5.4.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.37", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "4.2.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.-.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" }, { "id": "2.7.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.-", "type": "external" }, { "id": "3.1.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.5.-", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0003725 double-stranded RNA binding;GO:0001730 2'-5'-oligoadenylate synthetase activity;GO:0016779 nucleotidyltransferase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0071360 cellular response to exogenous dsRNA;GO:0070106 interleukin-27-mediated signaling pathway;GO:2000342 negative regulation of chemokine (C-X-C motif) ligand 2 production;GO:0035457 cellular response to interferon-alpha;GO:0043129 surfactant homeostasis", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "P00973-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13352-1", "uniprot_id": [ { "id": "CENPR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13352", "type": "external" } ], "mass": 20194.0, "length": 177, "protein_name": "Centromere protein R", "gene_name": "ITGB3BP", "organism": "Human", "refseq_name": "centromere protein R isoform 1", "refseq_ac": [ { "id": "NP_001193668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193668", "type": "external" } ], "gene_names_uniprotkb": "ITGB3BP; CENPR; NRIF3", "gene_names_refseq": "CENP-R; CENPR; HSU37139; ITGB3BP; NRIF3; TAP20", "protein_names_uniprotkb": "Centromere protein R; Beta-3-endonexin; CENP-R; Integrin beta-3-binding protein; Nuclear receptor-interacting factor 3", "protein_names_refseq": "beta 3 endonexin; centromere protein R isoform 1; centromere protein R; integrin beta 3 binding protein (beta3-endonexin); integrin beta-3-binding protein; nuclear receptor-interacting factor 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23421); (R-HSA-141430); (R-HSA-141444); (R-HSA-205043); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-606279); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 10, "publication_count": 146, "publication_id_list": "10411507;10490654;10600384;10673397;10678165;10958683;11081627;11181178;11371342;11509732;11535616;11713274;11804586;11810239;11864709;12006501;12194817;12244126;12429848;12577064;12679384;12732141;12805219;12852857;14730319;14960584;15006353;15082778;15085137;15254226;15339662;15369671;15507212;15723797;15737063;15864301;15866170;15944396;16252010;16292343;16439214;16541025;16622419;16622420;16630834;16682347;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;17199038;17339379;1737036;18001770;18097444;18521086;18669648;18691976;18716626;18923426;19350017;19398759;19410544;19410545;19691289;19696148;19815554;19965387;20030946;20068231;20080577;20101212;20566683;20591975;21111234;21148482;21397845;21576392;21768289;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23186163;23222643;23481700;23801653;24366607;24914801;25576301;25645385;25740311;25789526;26811146;26992070;27846572;28228285;28411811;28832583;28834231;29242379;29393594;29493099;29557506;29632046;30315122;30429286;30484775;31092671;31409757;31844290;32157095;32265295;32357974;32387766;32488085;32897882;32938616;33141586;33298915;33592498;33691108;33936100;33968037;33974527;34118594;34171305;34211107;34260926;34405274;34509645;35318648;36215666;7593198;9182673;9649308;9649503;9892021", "class_list": "", "function": "Beta3-Endonexin interacts with ninein in vascular endothelial cells to promote angiogenesis., [RefSeq, PubMed]; Integrated profiling identifies ITGB3BP as prognostic biomarker for hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]., [RefSeq]; Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid, vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as a transcriptional corepressor via its interaction with the NFKB1 NF-kappa-B subunit, possibly by interfering with the transactivation domain of NFKB1. Induces apoptosis in breast cancer cells, but not in other cancer cells, via a caspase-2 mediated pathway that involves mitochondrial membrane permeabilization but does not require other caspases. May also act as an inhibitor of cyclin A-associated kinase. Also acts a component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 8, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 0, "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": "B2R7D8;Q13353;Q5RJ42;Q5RJ44;Q5RJ45;Q7KYX2;Q96CD5;Q9UKB6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007059 chromosome segregation;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q13352-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18085-1", "uniprot_id": [ { "id": "ARF4_HUMAN", "url": "https://www.uniprot.org/uniprot/P18085", "type": "external" } ], "mass": 20511.0, "length": 180, "protein_name": "ADP-ribosylation factor 4", "gene_name": "ARF4", "organism": "Human", "refseq_name": "ADP-ribosylation factor 4", "refseq_ac": [ { "id": "NP_001651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001651", "type": "external" } ], "gene_names_uniprotkb": "ARF4; ARF2", "gene_names_refseq": "ARF2; ARF4", "protein_names_uniprotkb": "ADP-ribosylation factor 4", "protein_names_refseq": "ADP ribosylation factor 4; ADP-ribosylation factor 2; ADP-ribosylation factor 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:378); (R-HSA-5620916); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 4, "publication_count": 234, "publication_id_list": "10052452;10318838;10445031;10524252;10559959;10679020;10761932;10903204;10921873;11035033;11172815;11237011;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12221131;12388752;12634853;14504276;14654841;14742712;15029241;15037235;15158452;15272311;15616190;15632110;15728195;15728366;15813748;15878873;16030262;16038802;16136078;16155582;1631136;16431365;16537653;16571679;16633337;16723730;16782012;1680566;16912714;16926190;16940185;17007872;17030804;17113389;17253781;17274799;17360540;17429068;17451557;17574030;17628206;17646400;17760859;17927562;17956946;18086915;18182008;18283113;18287528;18524849;18685082;18809720;1898986;1899243;19015319;19017632;19109418;19151722;19153612;19164740;19296914;19297529;19369418;19454479;1957170;19631211;19664994;19758564;20005805;20083215;20136777;20308558;20357002;20427317;20462495;20534429;20637885;2107548;21219331;21273506;21550243;21550981;21565611;21689688;21775626;21844168;22013193;22094269;22304919;22389062;22420621;22433857;22983554;23186163;23351793;23396477;23481700;23567335;23839779;23945166;24119662;24296415;24715725;24806965;25255805;25364732;25436559;25492864;25576301;25645385;25673879;26258637;26375851;26824387;26992070;27600516;27726376;27846572;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32387766;32488085;32502341;32828303;32897882;32938616;32983136;33298915;33416178;33465208;33561610;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34357683;34405274;34509645;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;38665916;38816950;40596516;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9819391;9990005", "class_list": "", "function": "Cholesterol 25-Hydroxylase Protects Against Diabetic Kidney Disease by Regulating ADP Ribosylation Factor 4., [RefSeq, PubMed]; Class II Arfs require a brefeldin-A-sensitive factor for Golgi association., [RefSeq, PubMed]; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus. Part of the ciliary targeting complex containing Rab11, ASAP1, Rabin8/RAB3IP, RAB11FIP3 and ARF4, which direct preciliary vesicle trafficking to mother centriole and ciliogenesis initiation (PubMed:25673879)., [UniProtKB, PubMed]; MicroRNA196a3p inhibits cell proliferation and promotes cell apoptosis by targeting ADP ribosylation factor 4 in diffuse large Bcell lymphoma., [RefSeq, PubMed]; Quantitative Proteomics Reveals Association of Neuron Projection Development Genes ARF4, KIF5B, and RAB8A With Hirschsprung Disease., [RefSeq, PubMed]; This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [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, "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "B2R7J7;P21371", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0005154 epidermal growth factor receptor binding;GO:1990583 phospholipase D activator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016477 cell migration;GO:0043066 negative regulation of apoptotic process;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0060996 dendritic spine development", "synthesized_glycan_count": 0, "hit_score": 23.9, "record_id": "P18085-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61204-1", "uniprot_id": [ { "id": "ARF3_HUMAN", "url": "https://www.uniprot.org/uniprot/P61204", "type": "external" } ], "mass": 20601.0, "length": 181, "protein_name": "ADP-ribosylation factor 3", "gene_name": "ARF3", "organism": "Human", "refseq_name": "ADP-ribosylation factor 3 isoform a", "refseq_ac": [ { "id": "NP_001650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001650", "type": "external" } ], "gene_names_uniprotkb": "ARF3", "gene_names_refseq": "ARF3", "protein_names_uniprotkb": "ADP-ribosylation factor 3", "protein_names_refseq": "ADP ribosylation factor 3; ADP-ribosylation factor 3 isoform a; small GTP binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:377); (R-HSA-1660514); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 4, "publication_count": 210, "publication_id_list": "10.1101/2023.09.13.557529;10052452;10101268;10318838;10419465;10445031;10559940;10559959;10567352;10623590;10679020;10761932;10764818;10766823;10805725;10806194;10903204;10921873;11035033;11172815;11237011;11279162;11285137;11306556;11461920;11493604;11689559;11703931;11706043;11716755;11726511;11739780;11748249;11923287;12047556;12070132;12324459;12388752;12634853;14504276;14527956;14654841;14659893;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17113389;17253781;17274799;17360540;17429068;1744102;17451557;17555535;17556371;17760859;17927562;17956946;18086915;18182008;18283113;18287528;18524849;18809720;18950639;1898986;19015319;19109418;19151722;19164740;19211563;19296914;19369418;1957170;19631211;19668216;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21550981;21689688;21844168;22013193;22094269;22304919;23396477;23481700;23839779;24029068;24119662;24366607;24714562;24715725;2474826;24806965;25364732;25418920;25436559;25492864;25502872;26154972;26375851;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;29242379;29314611;29351928;29493099;29557506;29632711;30429286;30833945;31222486;31530632;31844290;31848261;32119511;32157095;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33392160;33592498;33691108;33936100;33968037;33981976;34171305;34211107;34357683;34433824;34509645;35051231;35251023;35580925;36010968;36241641;36284347;36369169;36880595;37217939;37938771;38665916;40596516;7628435;7691276;7761412;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8634694;8636227;8991093;8999962;9114004;9148941;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9405935;9490716;9516481;9671725;9751720;9878262;9990005", "class_list": "", "function": "ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. [provided by RefSeq, Oct 2022]., [RefSeq]; Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish. Publication Status: Online-Only, [RefSeq, PubMed]; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus., [UniProtKB]; The small GTPase ARF3 controls invasion modality and metastasis by regulating N-cadherin levels., [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": 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, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "A8K6G8;B7ZB63;P16587", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 21.7, "record_id": "P61204-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYT4-1", "uniprot_id": [ { "id": "KATL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYT4", "type": "external" } ], "mass": 61253.0, "length": 538, "protein_name": "Katanin p60 ATPase-containing subunit A-like 2", "gene_name": "KATNAL2", "organism": "Human", "refseq_name": "katanin p60 ATPase-containing subunit A-like 2 isoform 5", "refseq_ac": [ { "id": "NP_112593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112593", "type": "external" } ], "gene_names_uniprotkb": "KATNAL2", "gene_names_refseq": "KATNAL2", "protein_names_uniprotkb": "Katanin p60 ATPase-containing subunit A-like 2; 5.6.1.1; Katanin p60 subunit A-like 2; p60 katanin-like 2", "protein_names_refseq": "katanin catalytic subunit A like 2; katanin p60 ATPase-containing subunit A-like 2 isoform 5; katanin p60 ATPase-containing subunit A-like 2; katanin p60 subunit A like 2; p60 katanin-like 2", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:83473)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;22495311;23018867;24714562;26929214;29557506;34019948;34096614;34357683;38916997;39894887", "class_list": "", "function": "Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia., [RefSeq, PubMed]; KATNAL2 methylation correlates with severity of cervical intraepithelial neoplasia, [RefSeq, PubMed]; Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics., [RefSeq, PubMed]; Results from de novo events and a large parallel case-control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors Publication Status: Online-Only, [RefSeq, PubMed]; Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays., [UniProtKB, HAMAP, UniProtKB, UniProtKB]", "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0008568 microtubule severing ATPase activity;GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0016853 isomerase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005737 cytoplasm;GO:0005819 spindle;GO:0005874 microtubule;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0051013 microtubule severing;GO:0031122 cytoplasmic microtubule organization;GO:0000212 meiotic spindle organization", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8IYT4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3T906-1", "uniprot_id": [ { "id": "GNPTA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3T906", "type": "external" } ], "mass": 143622.0, "length": 1256, "protein_name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta", "gene_name": "GNPTAB", "organism": "Human", "refseq_name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta precursor", "refseq_ac": [ { "id": "NP_077288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077288", "type": "external" } ], "gene_names_uniprotkb": "GNPTAB; GNPTA; KIAA1208", "gene_names_refseq": "GNPTAB; GNPTA; ICD", "protein_names_uniprotkb": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; 2.7.8.17; GlcNAc-1-phosphotransferase subunits alpha/beta; Stealth protein GNPTAB; UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta", "protein_names_refseq": "GlcNAc phosphotransferase; N-acetylglucosamine-1-phosphate transferase alpha and beta subunits; N-acetylglucosamine-1-phosphotransferase subunits alpha/beta precursor; UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine; glcNAc-1-phosphotransferase subunits alpha/beta; glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase; stealth protein GNPTAB", "tax_id": 9606, "disease": "mucolipidosis II alpha/beta (Disease Ontology:DOID:0080070); mucolipidosis III alpha/beta (Disease Ontology:DOID:0080071); mucolipidosis (Disease Ontology:DOID:0080488); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:79158)", "pathway_count": 1, "publication_count": 100, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;16094673;16116615;16120602;16200072;16299590;16465621;16630736;16835905;17034777;18190596;19159218;19197337;19617216;19634183;19659762;19938078;19955174;20147709;20230923;20880125;21719679;22495880;23481700;23566849;23584533;23733939;23773965;24045841;24190977;24375680;24550498;24767253;24798265;25418920;25502872;25505245;25576301;25788519;25813380;25880248;26758079;26811146;26992070;27535533;27600516;28228285;28411811;28467828;28832583;28855257;28871256;28918368;29242379;29314611;29317506;29393594;29493099;29557506;29632046;29632711;29741879;30315122;30429286;30459171;30573663;31154438;31217245;31844290;32157095;32161166;32265295;32350084;32488085;32651481;32938616;32983136;33298915;33392160;33912179;33936100;34078123;34171305;34341521;34357683;34433824;34932366;35051231;35154160;35251023;35580925;36074821;36215666;36284347;37074911;37340703;40307207", "class_list": "glycogene", "function": "Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment., [UniProtKB, PubMed, PubMed, PubMed]; GNPTAB alpha and beta subunits are encoded by a single cDNA Erratum:[J Biol Chem. 2005 Dec 23;280(51):42476], [RefSeq, PubMed]; Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III., [RefSeq, PubMed]; Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III., [RefSeq, PubMed]; Results provide evidence that GNPTA encodes a subunit of GlcNAc-1-phosphotransferase defective in individuals with mucolipidosis II, [RefSeq, PubMed]; This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "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": 17, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 13, "reported_o_glycosites_with_glycan": 22, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 18, "total_reported_o_glycosites": 22, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 18, "total_o_glycosites": 22, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 1672, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 24, "disease_count": 4, "glyco_site_count": 43, "binding_glycan_count": 0, "secondary_ac_list": "A2RRQ9;Q3ZQK2;Q6IPW5;Q86TQ2;Q96N13;Q9ULL2", "ec_number_list": [ { "id": "2.7.8.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.17", "type": "external" } ], "go_molecular_function": "GO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity;GO:0005509 calcium ion binding;GO:0016740 transferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0007040 lysosome organization;GO:0016256 N-glycan processing to lysosome;GO:0046835 carbohydrate phosphorylation", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q3T906-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92609-1", "uniprot_id": [ { "id": "TBCD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92609", "type": "external" } ], "mass": 89004.0, "length": 795, "protein_name": "TBC1 domain family member 5", "gene_name": "TBC1D5", "organism": "Human", "refseq_name": "TBC1 domain family member 5 isoform a", "refseq_ac": [ { "id": "NP_001127853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127853", "type": "external" } ], "gene_names_uniprotkb": "TBC1D5; KIAA0210", "gene_names_refseq": "TBC1D5", "protein_names_uniprotkb": "TBC1 domain family member 5", "protein_names_refseq": "TBC1 domain family member 5 isoform a", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9779)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15144186;16964243;18088087;18669648;18691976;19413330;19531583;19651622;19664994;19664995;19690332;19901323;20058876;20068231;20166139;20230923;20923837;21406692;22354992;23186163;23481700;23908376;24275569;24603492;24715725;25576301;25880248;25892735;26154972;26375851;27846572;27920218;28063628;28228285;28411811;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30429286;30833945;31154438;31217245;31530632;31637018;31844290;31848261;31998317;32157095;32350084;32387766;32488085;32502341;32938616;32938750;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34932366;35051231;35251023;35580925;36241641;37938771", "class_list": "", "function": "May act as a GTPase-activating protein (GAP) for Rab family protein(s). May act as a GAP for RAB7A. Can displace RAB7A and retromer CSC subcomplex from the endosomal membrane to the cytosol; at least retromer displacement seems to require its catalytic activity (PubMed:19531583, PubMed:20923837). Required for retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN); the function seems to require its catalytic activity. Involved in regulation of autophagy (PubMed:22354992). May act as a molecular switch between endosomal and autophagosomal transport and is involved in reprogramming vesicle trafficking upon autophagy induction. Involved in the trafficking of ATG9A upon activation of autophagy. May regulate the recruitment of ATG9A-AP2-containing vesicles to autophagic membranes (PubMed:24603492)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Membrane recruitment of the cargo-selective retromer subcomplex VPS35/29/26 is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5., [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": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6NP25;C9JP52", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0035612 AP-2 adaptor complex binding;GO:0044877 protein-containing complex binding;GO:1905394 retromer complex binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0010008 endosome membrane;GO:0005776 autophagosome;GO:0030904 retromer complex", "go_biological_process": "GO:0015031 protein transport;GO:0042594 response to starvation;GO:0016236 macroautophagy;GO:0006914 autophagy;GO:0002092 positive regulation of receptor internalization", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q92609-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60232-1", "uniprot_id": [ { "id": "ZNRD2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60232", "type": "external" } ], "mass": 21474.0, "length": 199, "protein_name": "Protein ZNRD2", "gene_name": "ZNRD2", "organism": "Human", "refseq_name": "protein ZNRD2 isoform 1", "refseq_ac": [ { "id": "NP_006387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006387", "type": "external" } ], "gene_names_uniprotkb": "ZNRD2; SSSCA1", "gene_names_refseq": "SSSCA1; ZNRD2; p27", "protein_names_uniprotkb": "Protein ZNRD2; Autoantigen p27; Protein zinc ribbon domain type 2; Sjoegren syndrome/scleroderma autoantigen 1; Zinc ribbon domain-containing protein 2", "protein_names_refseq": "Sjogren syndrome/scleroderma autoantigen 1; Sjogren's syndrome/scleroderma autoantigen 1; autoantigen p27; centromeric autoantigen (27kD); protein ZNRD2 isoform 1; protein ZNRD2; protein zinc ribbon domain type 2; sjoegren syndrome/scleroderma autoantigen 1; zinc ribbon domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10534)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;17525332;19574837;21292307;23301498;25418920;25576301;26154972;26992070;28218747;28832583;28904123;29437277;29786170;30315122;30410026;30429286;30779550;30833945;31530632;31844290;31848261;32157095;32170109;32357974;32488085;32502341;32983136;33592498;33968037;33981976;34087483;35051231;35132862;35580925;36010968;40596516;9486406", "class_list": "", "function": "Might play a role in mitosis. Antigenic molecule. Could be a centromere-associated protein. May induce anti-centromere antibodies., [UniProtKB, PubMed]; Our method identified a strong relationship between p27 expression and prostate cancer recurrence., [RefSeq, PubMed]; The current results showed that p27 expression were associated with glioma grade., [RefSeq, PubMed]; This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [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, "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": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "O60232-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09972-1", "uniprot_id": [ { "id": "ALDOC_HUMAN", "url": "https://www.uniprot.org/uniprot/P09972", "type": "external" } ], "mass": 39456.0, "length": 364, "protein_name": "Fructose-bisphosphate aldolase C", "gene_name": "ALDOC", "organism": "Human", "refseq_name": "fructose-bisphosphate aldolase C", "refseq_ac": [ { "id": "NP_005156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156", "type": "external" } ], "gene_names_uniprotkb": "ALDOC; ALDC", "gene_names_refseq": "ALDC; ALDOC", "protein_names_uniprotkb": "Fructose-bisphosphate aldolase C; 4.1.2.13; Brain-type aldolase", "protein_names_refseq": "aldolase 3; aldolase C, fructose-bisphosphate; brain-type aldolase; epididymis secretory sperm binding protein; fructoaldolase C; fructose-1,6-biphosphate triosephosphate lyase; fructose-bisphosphate aldolase C", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); autoimmune disease of the nervous system (Disease Ontology:DOID:438); borna disease (Disease Ontology:DOID:5154); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:230); (R-HSA-6798695); (R-HSA-70171); (R-HSA-70263)", "pathway_count": 4, "publication_count": 157, "publication_id_list": "10229653;10714828;11237011;11371164;11399750;11506403;11780755;11851336;11876650;12093795;12437512;12616532;1278465;12965206;12965222;13538944;14718531;14722102;15537755;15710582;16408927;16511037;17804405;18337460;183598;18449899;18613815;1871135;18910716;18910717;18927083;19118303;20068231;20166139;21949678;2209624;22219026;23168256;23186163;23446454;23506893;23650620;24275569;2462567;24714562;24715725;25502872;25576301;25648650;25892735;26375851;26728094;27600516;27862975;2793178;28228285;2846554;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29314611;29493099;29508533;29557506;2960695;29632711;29769354;29786170;30315122;30410026;30517626;30573663;3105602;31217245;31222486;31530632;3170585;31844290;31848261;31998317;3208766;32157095;32350084;32357974;32387766;32488085;32502341;3267224;32897882;32938616;32983136;33214551;33298915;3355497;33592498;33717175;33912179;33936100;33968037;34019948;34211107;34229054;34357683;34433824;3453121;34725712;34782236;35051231;35138101;35147255;35154160;35251023;3529090;35561310;36241641;36581221;36945054;36997056;37938771;38665916;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7573034;7717389;7825568;7989588;8117307;8211187;8325892;8447317;8571957;8645161;8692836;8786021;9382095;9428641;9438414;9493266;9585002;9657976;9678974;9758626", "class_list": "glycogene", "function": "ALDOC regulated the biological function and immune infiltration of gastric cancer cells., [RefSeq, PubMed]; ALDOC- and ENO2- driven glucose metabolism sustains 3D tumor spheroids growth regardless of nutrient environmental conditions: a multi-omics analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate (FBP) into two triose phosphate and plays a key role in glycolysis and gluconeogenesis., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Overexpression of aldolase, fructose-bisphosphate C and its association with spheroid formation in colorectal cancer., [RefSeq, PubMed]; This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008]., [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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 378, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R5R3;Q3SYL3;Q6FH94;Q6P0L5", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "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", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "2.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.7", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "1.11.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.7", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "2.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.9", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0008092 cytoskeletal protein binding;GO:0004332 fructose-bisphosphate aldolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0034774 secretory granule lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0006094 gluconeogenesis;GO:0006000 fructose metabolic process;GO:0006096 glycolytic process;GO:0030388 fructose 1,6-bisphosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "P09972-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6RW13-1", "uniprot_id": [ { "id": "ATRAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6RW13", "type": "external" } ], "mass": 17419.0, "length": 159, "protein_name": "Type-1 angiotensin II receptor-associated protein", "gene_name": "AGTRAP", "organism": "Human", "refseq_name": "type-1 angiotensin II receptor-associated protein isoform b", "refseq_ac": [ { "id": "NP_001035284", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035284", "type": "external" } ], "gene_names_uniprotkb": "AGTRAP; ATRAP", "gene_names_refseq": "AGTRAP; ATRAP", "protein_names_uniprotkb": "Type-1 angiotensin II receptor-associated protein; AT1 receptor-associated protein", "protein_names_refseq": "AT1 receptor-associated protein; ATI receptor-associated protein; angiotensin II, type I receptor-associated protein; type-1 angiotensin II receptor-associated protein isoform b; type-1 angiotensin II receptor-associated protein", "tax_id": 9606, "disease": "acquired metabolic disease (Disease Ontology:DOID:0060158); hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:57085); (R-HSA-6802952)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "11237011;11733189;12960423;15630448;18974108;20058876;20526349;21424530;22745804;23186163;23583981;24135138;24345920;24715725;25204415;25907612;26992070;27726376;28904123;29242379;30833945;31154438;31217245;31719572;32112267;32161166;32350084;32488085;33753727;34171305;35051231;35251023;35414770;35580925;36241641;39894887", "class_list": "", "function": "Angiotensin II type 1 receptor-associated protein deficiency attenuates sirtuin1 expression in an immortalised human renal proximal tubule cell line. Publication Status: Online-Only, [RefSeq, PubMed]; Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signaling by regulating receptor internalization as well as mechanism of receptor desensitization such as phosphorylation. Also induces a decrease in cell proliferation and angiotensin II-stimulated transcriptional activity., [UniProtKB, PubMed]; Cloned a new human gene cDNA that codes for a homolog of the murine Agtrap protein, [RefSeq, PubMed]; S-adenosylmethionine upregulates the angiotensin receptor-binding protein ATRAP via the methylation of HuR in NAFLD. Publication Status: Online-Only, [RefSeq, PubMed]; The pathophysiological role of angiotensin receptor-binding protein in hypertension and kidney diseases: Oshima Award Address 2019. Review article, [RefSeq, PubMed]; This gene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The gene product interacts with the angiotensin II type I receptor and negatively regulates angiotensin II signaling. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; USF1-ATRAP-PBX3 Axis Promote Breast Cancer Glycolysis and Malignant Phenotype by Activating AKT/mTOR Signaling. 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, "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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "A8MVQ5;Q5SNV4;Q5SNV5;Q96AC0;Q96PL4;Q9NRW9", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004945 angiotensin type II receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0001666 response to hypoxia;GO:0008217 regulation of blood pressure;GO:0038166 angiotensin-activated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q6RW13-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12965-1", "uniprot_id": [ { "id": "MYO1E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12965", "type": "external" } ], "mass": 127062.0, "length": 1108, "protein_name": "Unconventional myosin-Ie", "gene_name": "MYO1E", "organism": "Human", "refseq_name": "unconventional myosin-Ie", "refseq_ac": [ { "id": "NP_004989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004989", "type": "external" } ], "gene_names_uniprotkb": "MYO1E; MYO1C", "gene_names_refseq": "FSGS6; HuncM-IC; MYO1C; MYO1E", "protein_names_uniprotkb": "Unconventional myosin-Ie; Myosin-Ic; Unconventional myosin 1E", "protein_names_refseq": "MYO1E variant protein; myosin-IC; unconventional myosin 1E; unconventional myosin-Ie", "tax_id": 9606, "disease": "focal segmental glomerulosclerosis 6 (Disease Ontology:DOID:0111131)", "pathway": " (hsa:4643)", "pathway_count": 1, "publication_count": 116, "publication_id_list": "11237011;11940582;17257598;18212344;18491316;18669648;18991276;19651622;19846667;20058876;20068230;20068231;20112406;20860408;21458045;21697813;21756023;22544926;23186163;23328677;23481700;23595123;23783831;24714562;24715725;25349199;25418920;25576301;25645385;26154972;26375851;26728094;26992070;27397612;27452731;27600516;27846572;27862975;27869121;27920218;28063628;28218747;28228285;28446606;28510447;28832583;28834231;28837161;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30459171;30484775;30601698;30779550;30833945;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34185709;34211107;34357683;34405274;34509645;34932366;35051231;35561310;35580925;35723736;36010968;36215666;36241641;36284347;36316095;36914720;37074911;37938771;7932763;8022818", "class_list": "", "function": "Actin-based motor molecule with ATPase activity (PubMed:11940582, PubMed:36316095). Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. Binds to membranes containing anionic phospholipids via its tail domain. Involved in clathrin-mediated endocytosis and intracellular movement of clathrin-coated vesicles (PubMed:36316095). Required for normal morphology of the glomerular basement membrane, normal development of foot processes by kidney podocytes and normal kidney function. In dendritic cells, may control the movement of class II-containing cytoplasmic vesicles along the actin cytoskeleton by connecting them with the actin network via ARL14EP and ARL14., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis., [RefSeq, PubMed]; Myo1e overexpression in lung adenocarcinoma is associated with increased risk of mortality. Publication Status: Online-Only, [RefSeq, PubMed]; Steroid-Resistant Nephrotic Syndrome-Associated MYO1E Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity., [RefSeq, PubMed]; TH12 domain of Myo1e serves as a regulatory component to connect phosphatidylinositol signaling to F-actin polymerization at the podosome., [RefSeq, PubMed]; The kinetic mechanism of Myo1e (human myosin-IC)., [RefSeq, PubMed]; This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 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, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q14778", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0051015 actin filament binding;GO:0016887 ATP hydrolysis activity;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005903 brush border;GO:0005912 adherens junction", "go_biological_process": "GO:0006897 endocytosis;GO:0007015 actin filament organization;GO:0032835 glomerulus development;GO:0003094 glomerular filtration;GO:0072015 podocyte development", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q12965-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9I5-1", "uniprot_id": [ { "id": "FADS6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9I5", "type": "external" } ], "mass": 41817.0, "length": 368, "protein_name": "Fatty acid desaturase 6", "gene_name": "FADS6", "organism": "Human", "refseq_name": "fatty acid desaturase 6", "refseq_ac": [ { "id": "NP_835229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835229", "type": "external" } ], "gene_names_uniprotkb": "FADS6; FP18279", "gene_names_refseq": "FADS6; FP18279", "protein_names_uniprotkb": "Fatty acid desaturase 6; 1.14.19.-", "protein_names_refseq": "fatty acid desaturase 6; fatty acid desaturase domain family, member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:283985)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;15498874", "class_list": "", "function": "", "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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WYB9;Q17RQ7;Q6XYE1", "ec_number_list": [], "go_molecular_function": "GO:0016717 oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006633 fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N9I5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXR5-1", "uniprot_id": [ { "id": "ANR10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXR5", "type": "external" } ], "mass": 44768.0, "length": 420, "protein_name": "Ankyrin repeat domain-containing protein 10", "gene_name": "ANKRD10", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 10 isoform 2", "refseq_ac": [ { "id": "NP_001273650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273650", "type": "external" } ], "gene_names_uniprotkb": "ANKRD10", "gene_names_refseq": "ANKRD10", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 10", "protein_names_refseq": "ankyrin repeat domain-containing protein 10 isoform 2; ankyrin repeat domain-containing protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:55608)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;17697703;22424782;25576301;25880248;26992070;27862975;27920218;28228285;28832583;28904123;29242379;29393594;29493099;29557506;30315122;30429286;31217245;31530632;31844290;31848261;32157095;32387766;32488085;32502341;32938616;32983136;33392160;33592498;33717175;33912179;33968037;33981976;34171305;34185709;34932366;35051231;35561310;35580925;36010968;36241641;36284347;36581221;37938771", "class_list": "", "function": "", "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": 2, "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": "Q5VW12;Q9BV12", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9NXR5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VF7-1", "uniprot_id": [ { "id": "NRAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VF7", "type": "external" } ], "mass": 197074.0, "length": 1730, "protein_name": "Nebulin-related-anchoring protein", "gene_name": "NRAP", "organism": "Human", "refseq_name": "nebulin-related-anchoring protein isoform 3", "refseq_ac": [ { "id": "NP_001248392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248392", "type": "external" } ], "gene_names_uniprotkb": "NRAP", "gene_names_refseq": "N-RAP; NRAP", "protein_names_uniprotkb": "Nebulin-related-anchoring protein; N-RAP", "protein_names_refseq": "nebulin-related-anchoring protein isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:4892)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;12789664;15205937;20808825;28611399;29557506;30379171;32157095;32387766;33534821;34105348;35051231;35254053;35580925;36010968;9339382", "class_list": "", "function": "Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Highly conserved and exclusively expressed in cardiac and skeletal muscle. Candidate cause for cardiac and skeletal myopathies, [RefSeq, PubMed]; Loss-of-function mutation in NRAP gene is associated with dilated cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, 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, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 67, "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": "O15500;Q5VWI3;Q5VWI4;Q6MZK3;Q6N026;Q6N059;Q6NSH8;Q6PDB0;Q719H6;Q86TC5;Q86TD6;Q86TE6;Q86VF6;Q8N3R6;Q8N8F9;Q8TCH0;Q96MG4", "ec_number_list": [], "go_molecular_function": "GO:0051371 muscle alpha-actinin binding;GO:0003779 actin binding;GO:0046872 metal ion binding;GO:0051015 actin filament binding;GO:0017166 vinculin binding", "go_cellular_component": "GO:0030018 Z disc;GO:0005916 fascia adherens;GO:0005927 muscle tendon junction", "go_biological_process": "GO:0071691 cardiac muscle thin filament assembly", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q86VF7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y672-1", "uniprot_id": [ { "id": "ALG6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y672", "type": "external" } ], "mass": 58121.0, "length": 507, "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "organism": "Human", "refseq_name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "refseq_ac": [ { "id": "NP_037471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037471", "type": "external" } ], "gene_names_uniprotkb": "ALG6; My046", "gene_names_refseq": "ALG6; CDG1C", "protein_names_uniprotkb": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase; 2.4.1.267; Asparagine-linked glycosylation protein 6 homolog; Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase; Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase", "protein_names_refseq": "Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase; asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase); asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase); asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog; asparagine-linked glycosylation protein 6 homolog; dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase; dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase; dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase; dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase; dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); congenital disorder of glycosylation Ic (Disease Ontology:DOID:0080555)", "pathway": " (hsa:29929); (R-HSA-446193); (R-HSA-4724289)", "pathway_count": 3, "publication_count": 65, "publication_id_list": "10359825;10704531;10914684;10924277;11106564;11134235;11237011;11278778;11558905;11807558;11875054;11983712;12030331;12200473;12357336;12684507;12872255;14517965;14709599;14973778;14973782;15148656;15235028;15710750;15840742;15945070;16007612;16100110;16859551;16878994;18313027;18597486;19282279;21334936;22742743;23430515;25418920;25792706;26992070;27287710;28218747;28832583;29242379;29393594;29632046;29786170;30315122;31154438;31530632;32157095;32265295;32357974;32407885;32502341;33592498;33912179;33968037;34171305;34357683;35051231;35580925;36010968;38256083;9451016;9597543", "class_list": "glycogene;glycosyltransferase", "function": "ALG6-CDG has been now described in 89 patients. Erratum:[J Inherit Metab Dis. 2016 Sep;39(5):759. doi: 10.1007/s10545-016-9967-4. PMID: 27498540], [RefSeq, PubMed]; Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype., [RefSeq, PubMed]; Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. In the lumen of the endoplasmic reticulum, adds the first glucose residue from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide intermediate Man(9)GlcNAc(2)-PP-Dol to produce Glc(1)Man(9)GlcNAc(2)-PP-Dol. Glc(1)Man(9)GlcNAc(2)-PP-Dol is a substrate for ALG8, the following enzyme in the biosynthetic pathway., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 635, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KMU2;Q5SXR9;Q9H3I0", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.267", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.267", "type": "external" } ], "go_molecular_function": "GO:0004583 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity;GO:0042281 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity;GO:0046527 glucosyltransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0098553 lumenal side of endoplasmic reticulum membrane", "go_biological_process": "GO:0006488 dolichol-linked oligosaccharide biosynthetic process;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 150, "hit_score": 6.6, "record_id": "Q9Y672-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29373-1", "uniprot_id": [ { "id": "RABP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P29373", "type": "external" } ], "mass": 15693.0, "length": 138, "protein_name": "Cellular retinoic acid-binding protein 2", "gene_name": "CRABP2", "organism": "Human", "refseq_name": "cellular retinoic acid-binding protein 2", "refseq_ac": [ { "id": "NP_001186652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186652", "type": "external" } ], "gene_names_uniprotkb": "CRABP2", "gene_names_refseq": "CRABP-II; CRABP2; RBP6", "protein_names_uniprotkb": "Cellular retinoic acid-binding protein 2; CRABP-II; Cellular retinoic acid-binding protein II", "protein_names_refseq": "cellular retinoic acid-binding protein 2; cellular retinoic acid-binding protein II", "tax_id": 9606, "disease": "", "pathway": " (hsa:1382); (R-HSA-5362517)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10493790;10531482;11237011;11909957;1309505;1334086;15866176;1654334;16979656;17447762;18542081;19144697;19850744;20042001;20215566;21504868;21697133;21998312;22871568;23991366;25576301;27846572;27862975;29093164;29557506;29786170;30429286;30779550;31848261;32983136;33592498;33968037;35051231;35318648;35580925;36010968;36241641;37715025;38001389;38186580;38195606;38807101;7704533;9600845;9737849;9737883", "class_list": "", "function": "CRABP2 affects chemotherapy resistance of ovarian cancer by regulating the expression of HIF1alpha. Publication Status: Online-Only, [RefSeq, PubMed]; CRABP2 regulates infiltration of cancer-associated fibroblasts and immune response in melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; Cellular Retinoic Acid Binding Protein 2 (CRABP2), Up-regulated by HPV E6/E7, Leads to Aberrant Activation of the Integrin beta1/FAK/ERK Signaling Pathway and Aggravates the Malignant Phenotypes of Cervical Cancer., [RefSeq, PubMed]; FOXD2-AS1 promotes malignant cell behavior in oral squamous cell carcinoma via the miR-378 g/CRABP2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; The heterogeneity of tumour immune microenvironment revealing the CRABP2/CD69 signature discriminates distinct clinical outcomes in breast cancer., [RefSeq, PubMed]; This gene encodes a member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttling protein, which facilitates RA binding to its cognate receptor complex and transfer to the nucleus. It is involved in the retinoid signaling pathway, and is associated with increased circulating low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2010]., [RefSeq]; Transports retinoic acid to the nucleus. Regulates the access of retinoic acid to the nuclear retinoic acid receptors., [UniProtKB]", "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": 3, "reported_glycation": 0, "reported_snv": 1, "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": "B2R4Z8;D3DVC5;F1T098;Q6ICN6", "ec_number_list": [], "go_molecular_function": "GO:0005504 fatty acid binding;GO:0019841 retinol binding;GO:0016918 retinal binding;GO:0005501 retinoid binding;GO:0001972 retinoic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0006355 regulation of DNA-templated transcription;GO:0008544 epidermis development;GO:0015908 fatty acid transport", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "P29373-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75923-1", "uniprot_id": [ { "id": "DYSF_HUMAN", "url": "https://www.uniprot.org/uniprot/O75923", "type": "external" } ], "mass": 237295.0, "length": 2080, "protein_name": "Dysferlin", "gene_name": "DYSF", "organism": "Human", "refseq_name": "dysferlin isoform 2", "refseq_ac": [ { "id": "NP_001123927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123927", "type": "external" } ], "gene_names_uniprotkb": "DYSF; FER1L1", "gene_names_refseq": "DYSF; FER1L1; LGMD2B; LGMDR2; MMD1", "protein_names_uniprotkb": "Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1", "protein_names_refseq": "dysferlin isoform 2; dystrophy-associated fer-1-like 1; fer-1-like family member 1; fer-1-like protein 1; limb girdle muscular dystrophy 2B (autosomal recessive)", "tax_id": 9606, "disease": "Miyoshi muscular dystrophy (Disease Ontology:DOID:0070198); Miyoshi muscular dystrophy 1 (Disease Ontology:DOID:0070199); autosomal recessive limb-girdle muscular dystrophy type 2B (Disease Ontology:DOID:0110276); distal myopathy with anterior tibial onset (Disease Ontology:DOID:0111187); distal myopathy (Disease Ontology:DOID:11720); limb-girdle muscular dystrophy (Disease Ontology:DOID:11724); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:8291); (R-HSA-445355)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "10196375;10196377;10496277;10991994;11134403;11198284;11237011;11242081;11457814;11468312;11532985;11889009;11959863;12048254;12796534;14506282;14627618;14678801;15116377;15318348;15377279;15469449;15477515;15515206;156362;15835269;16010686;16100712;16705711;16896923;16959974;16996541;17055381;17081983;17185750;17287450;17363620;17554076;18306167;18853459;18974361;19084402;19221801;1930128;19380584;20058876;22299025;22421042;22778174;23834404;24239457;24275569;24438169;24461013;24687993;24872348;2526655;25576301;26362469;26707827;27452731;2764880;27679490;27862975;28121444;28741090;29242379;29557506;30315122;30429286;31092671;31154438;31530632;31844290;31848261;32157095;32387766;32938616;33043033;33141586;33298915;33592498;33633747;33968037;33981976;34211107;34509645;35051231;35494241;35580925;35962550;36010968;36241641;37217939;37434585;3780718;37938771;38110300;38838015;39011635;39531497;8858389;9481611;9598563;9600334;9731526;9731527;9855623", "class_list": "", "function": "Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy., [RefSeq, PubMed]; Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy., [RefSeq, PubMed]; Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity)., [UniProtKB]; Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy., [RefSeq, PubMed]; Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin., [RefSeq, PubMed]; The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 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, "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0FK00;B1PZ70;B1PZ71;B1PZ72;B1PZ73;B1PZ74;B1PZ75;B1PZ76;B1PZ77;B1PZ78;B1PZ79;B1PZ80;B1PZ81;B3KQB9;O75696;Q09EX5;Q0H395;Q53QY3;Q53TD2;Q8TEL8;Q9UEN7", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0046928 regulation of neurotransmitter secretion;GO:0050765 negative regulation of phagocytosis;GO:0002281 macrophage activation involved in immune response;GO:0002280 monocyte activation involved in immune response", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "O75923-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08426-1", "uniprot_id": [ { "id": "ECHP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08426", "type": "external" } ], "mass": 79495.0, "length": 723, "protein_name": "Peroxisomal bifunctional enzyme", "gene_name": "EHHADH", "organism": "Human", "refseq_name": "peroxisomal bifunctional enzyme isoform 2", "refseq_ac": [ { "id": "NP_001159887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159887", "type": "external" } ], "gene_names_uniprotkb": "EHHADH; ECHD", "gene_names_refseq": "ECHD; EHHADH; FRTS3; L-PBE; LBFP; MFE1; PBFE", "protein_names_uniprotkb": "Peroxisomal bifunctional enzyme; L-bifunctional protein; LBP; MFE1; Multifunctional enzyme 1; PBE; PBFE", "protein_names_refseq": "3,2-trans-enoyl-CoA isomerase; L-3-hydroxyacyl-CoA dehydrogenase; L-bifunctional protein, peroxisomal; PBE; enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase; enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase; multifunctional enzyme 1; peroxisomal bifunctional enzyme isoform 2; peroxisomal bifunctional enzyme; peroxisomal enoyl-CoA hydratase", "tax_id": 9606, "disease": "Fanconi renotubular syndrome 3 (Disease Ontology:DOID:0080759); Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:1962); (R-HSA-390247); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 100, "publication_id_list": "10022913;10198260;10562279;10673331;11101887;11237011;11514237;11546814;11673457;11781871;11931631;12456682;12559034;12578380;12717447;12885776;15060085;15545321;15858711;16385454;1651711;1679347;16854980;16940157;17007944;17287340;17726030;18359941;18712838;19197237;19208625;19584060;19608861;19632994;20167786;20178365;21145416;21554508;21976670;21980954;22002062;22057399;22371489;22493507;22534643;22745130;22747494;23186163;23963456;24235149;24275569;24401050;24715725;24865970;25016021;25538232;25854684;26086376;26138649;26220973;26344566;26992070;27597759;28521612;28611990;28765278;28787099;28832583;29508533;29557506;31154438;32157095;32350084;32387766;33392160;33500543;33968037;3469675;35051231;35251023;35580925;37313808;38498379;486181;6798973;7719337;7790377;8188243;8824437;8858165;8902629;8991089;9089413;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "Peroxisomal trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities. Catalyzes two of the four reactions of the long chain fatty acids peroxisomal beta-oxidation pathway (By similarity). Can also use branched-chain fatty acids such as 2-methyl-2E-butenoyl-CoA as a substrate, which is hydrated into (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA (By similarity). Optimal isomerase for 2,5 double bonds into 3,5 form isomerization in a range of enoyl-CoA species (Probable). Also able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species (By similarity). With HSD17B4, catalyzes the hydration of trans-2-enoyl-CoA and the dehydrogenation of 3-hydroxyacyl-CoA, but with opposite chiral specificity (PubMed:15060085). Regulates the amount of medium-chain dicarboxylic fatty acids which are essential regulators of all fatty acid oxidation pathways (By similarity). Also involved in the degradation of long-chain dicarboxylic acids through peroxisomal beta-oxidation (PubMed:15060085)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; Positive regulation of cell proliferation by the miR-1290-EHHADH axis in hepatocellular carcinoma., [RefSeq, PubMed]; The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]., [RefSeq]; [EHHADH is a key gene in fatty acid metabolism pathways in hepatocellular carcinoma: a transcriptomic analysis]., [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": 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": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 5, "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": "A8K6Y3;B4DWG3;D3DNU0;Q58EZ5", "ec_number_list": [ { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "4.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.17", "type": "external" }, { "id": "1.1.1.211", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.211", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" } ], "go_molecular_function": "GO:0016509 long-chain (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity;GO:0019899 enzyme binding;GO:0070403 NAD+ binding;GO:0004300 enoyl-CoA hydratase activity;GO:0018812 3-hydroxyacyl-CoA dehydratase activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase;GO:0006633 fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q08426-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03372-1", "uniprot_id": [ { "id": "ESR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P03372", "type": "external" } ], "mass": 66216.0, "length": 595, "protein_name": "Estrogen receptor", "gene_name": "ESR1", "organism": "Human", "refseq_name": "estrogen receptor isoform 1", "refseq_ac": [ { "id": "NP_000116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116", "type": "external" } ], "gene_names_uniprotkb": "ESR1; ESR; NR3A1", "gene_names_refseq": "ER; ESR1; ESRA; ESR; ESTRR; Era; NR3A1", "protein_names_uniprotkb": "Estrogen receptor; ER-alpha; ER; Estradiol receptor; Nuclear receptor subfamily 3 group A member 1", "protein_names_refseq": "E2 receptor alpha; ER-alpha; estradiol receptor; estrogen nuclear receptor alpha; estrogen receptor alpha E1-E2-1-2; estrogen receptor alpha E1-N2-E2-1-2; estrogen receptor isoform 1; nuclear receptor subfamily 3 group A member 1; oestrogen receptor alpha", "tax_id": 9606, "disease": "autoimmune pancreatitis (Disease Ontology:DOID:0040091); chikungunya (Disease Ontology:DOID:0050012); autoimmune polyendocrine syndrome type 2 (Disease Ontology:DOID:0050168); erythema multiforme (Disease Ontology:DOID:0050185); Stevens-Johnson syndrome (Disease Ontology:DOID:0050426); marginal zone lymphoma (Disease Ontology:DOID:0050748); primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); rheumatic heart disease (Disease Ontology:DOID:0050827); cervical dystonia (Disease Ontology:DOID:0050840); stroke (Disease Ontology:DOID:0051061); immunoglobulin alpha deficiency (Disease Ontology:DOID:0060025); paroxysmal nocturnal hemoglobinuria (Disease Ontology:DOID:0060284); latex allergy (Disease Ontology:DOID:0060532); primary sclerosing cholangitis (Disease Ontology:DOID:0060643); pemphigus vulgaris (Disease Ontology:DOID:0060851); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); Parkinsonism (Disease Ontology:DOID:0080855); dilated cardiomyopathy 1H (Disease Ontology:DOID:0110429); osteomyelitis (Disease Ontology:DOID:1019); pleurisy (Disease Ontology:DOID:10247); prostate cancer (Disease Ontology:DOID:10283); pneumoconiosis (Disease Ontology:DOID:10316); silicosis (Disease Ontology:DOID:10325); bacterial infectious disease (Disease Ontology:DOID:104); pre-eclampsia (Disease Ontology:DOID:10591); celiac disease (Disease Ontology:DOID:10608); Alzheimer's disease (Disease Ontology:DOID:10652); thrombotic thrombocytopenic purpura (Disease Ontology:DOID:10772); sickle cell anemia (Disease Ontology:DOID:10923); prostatic hypertrophy (Disease Ontology:DOID:11132); common wart (Disease Ontology:DOID:11165); sarcoidosis (Disease Ontology:DOID:11335); rhinoscleroma (Disease Ontology:DOID:11336); cryptorchidism (Disease Ontology:DOID:11383); osteoporosis (Disease Ontology:DOID:11476); cicatricial pemphigoid (Disease Ontology:DOID:11656); degenerative myopia (Disease Ontology:DOID:11829); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949); allergic disease (Disease Ontology:DOID:1205); optic neuritis (Disease Ontology:DOID:1210); alveolar echinococcosis (Disease Ontology:DOID:12148); common variable immunodeficiency (Disease Ontology:DOID:12177); beta thalassemia (Disease Ontology:DOID:12241); Vogt-Koyanagi-Harada disease (Disease Ontology:DOID:12297); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); aplastic anemia (Disease Ontology:DOID:12449); vulva cancer (Disease Ontology:DOID:1245); choreatic disease (Disease Ontology:DOID:12859); Sjogren's syndrome (Disease Ontology:DOID:12894); dilated cardiomyopathy (Disease Ontology:DOID:12930); agranulocytosis (Disease Ontology:DOID:12987); allergic bronchopulmonary aspergillosis (Disease Ontology:DOID:13166); Behcet's disease (Disease Ontology:DOID:13241); typhoid fever (Disease Ontology:DOID:13258); pure red-cell aplasia (Disease Ontology:DOID:1340); Addison's disease (Disease Ontology:DOID:13774); autoimmune polyendocrine syndrome (Disease Ontology:DOID:14040); Plasmodium falciparum malaria (Disease Ontology:DOID:14067); hypothyroidism (Disease Ontology:DOID:1459); cystic echinococcosis (Disease Ontology:DOID:1495); rheumatic fever (Disease Ontology:DOID:1586); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); hepatitis C (Disease Ontology:DOID:1883); melanoma (Disease Ontology:DOID:1909); hepatitis B (Disease Ontology:DOID:2043); autoimmune hepatitis (Disease Ontology:DOID:2048); dental caries (Disease Ontology:DOID:216); transient cerebral ischemia (Disease Ontology:DOID:224); arteriosclerosis (Disease Ontology:DOID:2349); multiple sclerosis (Disease Ontology:DOID:2377); ovarian cancer (Disease Ontology:DOID:2394); Leydig cell tumor (Disease Ontology:DOID:2696); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); antiphospholipid syndrome (Disease Ontology:DOID:2988); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); coronary artery disease (Disease Ontology:DOID:3393); breast carcinoma (Disease Ontology:DOID:3459); lung non-small cell carcinoma (Disease Ontology:DOID:3908); tuberculosis (Disease Ontology:DOID:399); multidrug-resistant tuberculosis (Disease Ontology:DOID:401); autoimmune disease (Disease Ontology:DOID:417); systemic scleroderma (Disease Ontology:DOID:418); cervical cancer (Disease Ontology:DOID:4362); myasthenia gravis (Disease Ontology:DOID:437); macular degeneration (Disease Ontology:DOID:4448); rhinitis (Disease Ontology:DOID:4483); liver cirrhosis (Disease Ontology:DOID:5082); infertility (Disease Ontology:DOID:5223); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); myocardial infarction (Disease Ontology:DOID:5844); myositis (Disease Ontology:DOID:633); migraine (Disease Ontology:DOID:6364); acute disseminated encephalomyelitis (Disease Ontology:DOID:639); pulmonary hypertension (Disease Ontology:DOID:6432); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); hepatocellular carcinoma (Disease Ontology:DOID:684); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); autoimmune thyroiditis (Disease Ontology:DOID:7188); stomach disease (Disease Ontology:DOID:76); hyperthyroidism (Disease Ontology:DOID:7998); sporadic breast cancer (Disease Ontology:DOID:8029); myocarditis (Disease Ontology:DOID:820); peritonitis (Disease Ontology:DOID:8283); osteoarthritis (Disease Ontology:DOID:8398); arthritis (Disease Ontology:DOID:848); chronic myeloid leukemia (Disease Ontology:DOID:8552); ulcerative colitis (Disease Ontology:DOID:8577); prostate carcinoma in situ (Disease Ontology:DOID:8634); mycosis fungoides (Disease Ontology:DOID:8691); in situ carcinoma (Disease Ontology:DOID:8719); Crohn's disease (Disease Ontology:DOID:8778); neuromyelitis optica (Disease Ontology:DOID:8869); psoriasis (Disease Ontology:DOID:8893); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); atrophic gastritis (Disease Ontology:DOID:8929); diabetic retinopathy (Disease Ontology:DOID:8947); systemic lupus erythematosus (Disease Ontology:DOID:9074); acute myeloid leukemia (Disease Ontology:DOID:9119); achalasia (Disease Ontology:DOID:9164); pemphigus (Disease Ontology:DOID:9182); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); iridocyclitis (Disease Ontology:DOID:9383); type 1 diabetes mellitus (Disease Ontology:DOID:9744); alopecia areata (Disease Ontology:DOID:986); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970); estrogen resistance syndrome (MONDO:MONDO:0014148)", "pathway": " (hsa:2099); (R-HSA-1251985); (R-HSA-1257604); (R-HSA-2219530); (R-HSA-383280); (R-HSA-4090294); (R-HSA-5689896); (R-HSA-6811558); (R-HSA-8866910); (R-HSA-8931987); (R-HSA-8939211); (R-HSA-8939256); (R-HSA-8939902); (R-HSA-9009391); (R-HSA-9018519); (R-HSA-9841251); (R-HSA-9927418); (R-HSA-9927426)", "pathway_count": 18, "publication_count": 676, "publication_id_list": 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"class_list": "", "function": "Association of Estrogen Receptor-alpha and Aryl Hydrocarbon Receptor Gene Polymorphisms with Ischemic Stroke in an Egyptian Population: A Pilot Study. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in activation of NOS3 and endothelial nitric oxide production (PubMed:21937726). Isoforms lacking one or several functional domains are thought to modulate transcriptional activity by competitive ligand or DNA binding and/or heterodimerization with the full-length receptor (PubMed:10970861). Binds to ERE and inhibits isoform 1 (PubMed:10970861)., [UniProtKB, PubMed, PubMed]; Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA-binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial association with multiprotein coactivator complexes through LXXLL motifs of their respective components. Mutual transrepression occurs between the estrogen receptor (ER) and NF-kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA-binding activity and inhibits NF-kappa-B-mediated transcription from the IL6 promoter and displace RELA/p65 and associated coregulators from the promoter. Recruited to the NF-kappa-B response element of the CCL2 and IL8 promoters and can displace CREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50 on ERE sequences. Can also act synergistically with NF-kappa-B to activate transcription involving respective recruitment adjacent response elements; the function involves CREBBP. Can activate the transcriptional activity of TFF1. Also mediates membrane-initiated estrogen signaling involving various kinase cascades. Essential for MTA1-mediated transcriptional regulation of BRCA1 and BCAS3 (PubMed:17922032). Maintains neuronal survival in response to ischemic reperfusion injury when in the presence of circulating estradiol (17-beta-estradiol/E2) (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]; The 5'-UTRs of the E isoforms post-transcriptionally control ERalpha expression mainly through translational repression, [RefSeq, PubMed]; The N-terminal activation function AF-1 domain of ERalpha interacts directly with the C-terminal AF-2-holding ligand-binding domain to recruit the coactivator proteins. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]., [RefSeq]; USP36 promotes tumorigenesis and tamoxifen resistance in breast cancer by deubiquitinating and stabilizing ERalpha. Publication Status: Online-Only, [RefSeq, PubMed]; Upstream open reading frames regulate the translation of the multiple mRNA variants, [RefSeq, 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, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 56, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 80, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 135, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q13511;Q14276;Q5T5H7;Q6MZQ9;Q9NU51;Q9UDZ7;Q9UIS7", "ec_number_list": [], "go_molecular_function": "GO:0001093 TFIIB-class transcription factor binding;GO:0034056 estrogen response element binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0005516 calmodulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 68.1, "record_id": "P03372-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXL6-1", "uniprot_id": [ { "id": "FA20C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXL6", "type": "external" } ], "mass": 66234.0, "length": 584, "protein_name": "Extracellular serine/threonine protein kinase FAM20C", "gene_name": "FAM20C", "organism": "Human", "refseq_name": "extracellular serine/threonine protein kinase FAM20C precursor", "refseq_ac": [ { "id": "NP_064608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064608", "type": "external" } ], "gene_names_uniprotkb": "FAM20C; DMP4", "gene_names_refseq": "DMP-4; DMP4; FAM20C; G-CK; GEF-CK; RNS", "protein_names_uniprotkb": "Extracellular serine/threonine protein kinase FAM20C; 2.7.11.1; DMP-4; Dentin matrix protein 4; GEF-CK; Golgi casein kinase; Golgi-enriched fraction casein kinase", "protein_names_refseq": "Golgi casein kinase; dentin matrix protein 4; extracellular serine/threonine protein kinase FAM20C precursor; extracellular serine/threonine protein kinase Fam20C; family with sequence similarity 20, member C; golgi-enriched fraction casein kinase", "tax_id": 9606, "disease": "X-linked hypophosphatemic rickets (Disease Ontology:DOID:0050445); rickets (Disease Ontology:DOID:10609); amelogenesis imperfecta (Disease Ontology:DOID:2187); lethal osteosclerotic bone dysplasia (MONDO:MONDO:0009821)", "pathway": " (hsa:56975); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 108, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;15676076;17047378;17249697;17312271;17924334;17985932;19159218;19250384;20825432;22582013;23090970;23584533;23754375;24190977;2476804;2479552;25576301;25789606;26091039;26992070;27397612;27846572;27862975;28649982;28784772;28834231;28904123;29391424;29393594;29557506;29741879;29786170;29789417;29858230;30429286;30459171;32149426;32157095;32938616;32983136;33592498;33968037;34349020;34360805;34433585;35051231;35318648;35580925;36010968;36284347;36708808;36914045;37074911;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Epigenetic and transcriptional activation of the secretory kinase FAM20C as an oncogene in glioma., [RefSeq, PubMed]; FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Fam20C Regulates Bone Resorption and Breast Cancer Bone Metastasis through Osteopontin and BMP4., [RefSeq, PubMed]; Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome (PubMed:26091039). Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity (PubMed:26091039). Phosphorylates ERO1A, enhancing its activity which is required to maintain endoplasmic reticulum redox homeostasis and for oxidative protein folding (PubMed:29858230, PubMed:34349020). During endoplasmic reticulum stress, phosphorylates P4HB/PDIA1 which induces a functional switch, causing P4HB to change from an oxidoreductase to a molecular chaperone (PubMed:32149426). This is critical to maintain ER proteostasis and reduce cell death under ER stress (PubMed:32149426). Phosphorylation of P4HB also promotes its interaction with ERN1, leading to reduced activity of ERN1, a key sensor for the endoplasmic reticulum unfolded protein response (PubMed:32149426). Required for osteoblast differentiation and mineralization (PubMed:34349020). Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1/OPN (PubMed:22582013, PubMed:25789606, PubMed:34349020). In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion (PubMed:26091039)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Intracranial calcification in Fam20c-deficient mice recapitulates human Raine syndrome., [RefSeq, PubMed]; Mutation of FAM20C does not always lead to the infantile lethality previously seen as a prerequisite for Raine syndrome diagnosis., [RefSeq, PubMed]; Osteosclerotic bone dysplasia in siblings with a Fam20C mutation, [RefSeq, PubMed]; This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]., [RefSeq]; This study defines the causative role of FAM20C in this lethal osteosclerotic disorder and its crucial role in normal bone development., [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 28, "disease_count": 4, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A4D2Q5;L8B5W8;Q5I0W9;Q7Z4I0;Q9NPT2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "3.4.21.112", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.112", "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": "3.1.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.98", "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": "3.1.1.4", "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": "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": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "2.4.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.145", "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:0002020 protease binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0030145 manganese ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0043687 post-translational protein modification;GO:0031214 biomineral tissue development;GO:0070166 enamel mineralization", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q8IXL6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WYH8-1", "uniprot_id": [ { "id": "ING5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WYH8", "type": "external" } ], "mass": 27751.0, "length": 240, "protein_name": "Inhibitor of growth protein 5", "gene_name": "ING5", "organism": "Human", "refseq_name": "inhibitor of growth protein 5 isoform 3", "refseq_ac": [ { "id": "NP_001317091", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317091", "type": "external" } ], "gene_names_uniprotkb": "ING5", "gene_names_refseq": "ING5; p28ING5", "protein_names_uniprotkb": "Inhibitor of growth protein 5; p28ING5", "protein_names_refseq": "inhibitor of growth protein 5 isoform 3; inhibitor of growth protein 5", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); squamous cell carcinoma (Disease Ontology:DOID:1749); melanoma (Disease Ontology:DOID:1909); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:84289); (R-HSA-3214847); (R-HSA-6804758)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10786633;10821277;11099047;11237011;12750254;15313887;16387653;16728974;16839880;17081983;17287340;18381289;18623064;18794358;19187765;19608861;19651622;19690332;20018852;20068231;20228809;20660729;21406692;21750715;23186163;23431171;24065767;24129315;25418920;25576301;25645385;25860957;26154972;26375851;27600516;27846572;28904123;29493099;29557506;30779550;31154438;31530632;31844290;31848261;32157095;32350084;32357974;32488085;32502341;32938616;32983136;33298915;33912179;33936100;33968037;34520285;34932366;35051231;35318648;35482130;35580925;36010968;36284347;37249332;9427644;9558366;9880483", "class_list": "", "function": "Component of the HBO1 complex, which specifically mediates acetylation of histone H3 at 'Lys-14' (H3K14ac) and, to a lower extent, acetylation of histone H4 (PubMed:24065767). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:16387653). Through chromatin acetylation it may regulate DNA replication and may function as a transcriptional coactivator (PubMed:12750254, PubMed:16387653). Inhibits cell growth, induces a delay in S-phase progression and enhances Fas-induced apoptosis in an INCA1-dependent manner (PubMed:21750715)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Hsa_circ_0010729 is Involved in Oxygen-Glucose Deprivation/Reoxygenation-Induced Human Microvascular Endothelial Cell Deprivation by Targeting miR-665/ING5., [RefSeq, PubMed]; ING5 Inhibits Migration and Invasion of Esophageal Cancer Cells by Downregulating the IL-6/CXCL12 Signaling Pathway., [RefSeq, PubMed]; ING5 overexpression upregulates miR-34c-5p/Snail1 to inhibit EMT and invasion of lung cancer cells., [RefSeq, PubMed]; P29ING4 and p28ING5 may be significant modulators of p53 function., [RefSeq, PubMed]; The PHD domain of ING5 has the characteristic tertiary fold of a zinc finger., [RefSeq, PubMed]; This gene encodes a tumor suppressor protein that inhibits cell growth and induces apoptosis. This protein contains a PHD-type zinc finger. It interacts with tumor suppressor p53 and p300, a component of the histone acetyl transferase complex, suggesting a role in transcriptional regulation. Alternative splicing and the use of multiple promoters and 3' terminal exons results in multiple transcript variants. [provided by RefSeq, Aug 2016]., [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "A8K1P3;Q53NU6;Q57Z54;Q9BS30", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0140002 histone H3K4me3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000123 histone acetyltransferase complex;GO:0070776 MOZ/MORF histone acetyltransferase complex", "go_biological_process": "GO:0050793 regulation of developmental process;GO:2000278 regulation of DNA biosynthetic process;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q8WYH8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VWX1-1", "uniprot_id": [ { "id": "KHDR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VWX1", "type": "external" } ], "mass": 38927.0, "length": 349, "protein_name": "KH domain-containing, RNA-binding, signal transduction-associated protein 2", "gene_name": "KHDRBS2", "organism": "Human", "refseq_name": "KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform 2", "refseq_ac": [ { "id": "NP_689901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689901", "type": "external" } ], "gene_names_uniprotkb": "KHDRBS2; SLM1", "gene_names_refseq": "KHDRBS2-OT1; KHDRBS2-OT; KHDRBS2; SLM-1; SLM1", "protein_names_uniprotkb": "KH domain-containing, RNA-binding, signal transduction-associated protein 2; SLM-1; Sam68-like mammalian protein 1; hSLM-1", "protein_names_refseq": "KH domain containing, RNA binding, signal transduction associated 2; KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform 2; KH domain-containing, RNA-binding, signal transduction-associated protein 2; KHDRBS2 3'UTR overlapping transcript 1; Sam68-like mammalian protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:202559); (R-HSA-8849468)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10913193;11237011;12482964;12529443;12549823;15471878;16179349;19282290;19439179;20068231;29485866;30379171;31844290;32157095;32502341;32897882;32938616;32983136;33968037;35051231;35251023;35494241;40596516", "class_list": "", "function": "Molecular cloning and characterization, [RefSeq, PubMed]; RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability (By similarity). Induces an increased concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer. Can regulate alternative splicing of NRXN1 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. Regulates cell-type specific alternative splicing of NRXN1 at AS4 and acts synergystically with SAM68 in exon skipping. In contrast acts antagonistically with SAM68 in NRXN3 exon skipping at AS4. Its phosphorylation by FYN inhibits its ability to regulate splice site selection. May function as an adapter protein for Src kinases during mitosis., [UniProtKB, UniProtKB, UniProtKB]", "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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K7M8;Q8N4I4;Q8TCZ4", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0017124 SH3 domain binding;GO:0042169 SH2 domain binding;GO:0008143 poly(A) binding;GO:0008266 poly(U) RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q5VWX1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20393-1", "uniprot_id": [ { "id": "NR1D1_HUMAN", "url": "https://www.uniprot.org/uniprot/P20393", "type": "external" } ], "mass": 66805.0, "length": 614, "protein_name": "Nuclear receptor subfamily 1 group D member 1", "gene_name": "NR1D1", "organism": "Human", "refseq_name": "nuclear receptor subfamily 1 group D member 1", "refseq_ac": [ { "id": "NP_068370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068370", "type": "external" } ], "gene_names_uniprotkb": "NR1D1; EAR1; HREV; THRAL", "gene_names_refseq": "EAR1; NR1D1; REVERBA; REVERBalpha; THRA1; THRAL; ear-1; hRev", "protein_names_uniprotkb": "Nuclear receptor subfamily 1 group D member 1; EAR-1; Rev-erbA-alpha; V-erbA-related protein 1", "protein_names_refseq": "Rev-ErbAalpha; V-erbA-related protein 1; nuclear receptor Rev-ErbA-alpha; nuclear receptor subfamily 1 group D member 1; rev-erbA-alpha", "tax_id": 9606, "disease": "brain small vessel disease (Disease Ontology:DOID:0112313); portal hypertension (Disease Ontology:DOID:10762); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); hypothyroidism (Disease Ontology:DOID:1459); hyperthyroidism (Disease Ontology:DOID:7998); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:9572); (R-HSA-1989781); (R-HSA-2151201); (R-HSA-383280); (R-HSA-9707616); (R-HSA-9931509); (R-HSA-9931510); (R-HSA-9933387)", "pathway_count": 8, "publication_count": 168, "publication_id_list": "10198158;10235266;10381560;10412986;10542397;10643692;10713165;10777541;10857746;11267664;11340167;11387216;11809803;11865025;12021280;12118000;12130498;12177166;12356737;12374852;12377782;12505311;12511571;12563009;12582161;12745923;14750904;15067378;15130092;15175151;15175654;15302935;15635043;15665827;15684387;15761026;15896744;16079181;16079853;16380219;16484495;16751179;16788062;16890199;16908542;16911507;16968709;16972786;17031457;17437997;17715127;17892483;17923681;17994337;18006707;18037887;18215119;18317514;18343819;1850510;18540824;18680753;18719978;18848529;19001277;19088433;19356719;19417006;19615748;19710360;19710929;1971514;19934321;19951946;20110263;20414452;20534529;20581824;20817722;21479263;21628546;21874017;22170608;22184247;22613952;22682217;23398316;23481700;24196956;24415752;2539258;25505266;25576301;26154972;26392558;26992070;27238018;27600516;27754849;27846572;27862975;28111073;28218747;28514659;28832583;28904123;29242379;29437277;29493099;29508533;29557506;29789417;30315122;30410026;30429286;30779550;31154438;31217245;31530632;31748741;31844290;31848261;32157095;32354867;32357974;32387766;32695117;32938616;33141586;33298915;3345742;33912179;33968037;33981976;34211107;34357683;34509645;35051231;35318648;36215666;36241641;36284347;38147453;38255844;38748870;39383000;7629110;7685352;7799916;7892212;8060328;8108407;8156598;8333869;8402897;8415693;8622974;8647822;8887638;9012850;9062340;9079689;9144434;9178750;9286700;9653119;9660968;9748239", "class_list": "", "function": "Findings show that GSK3beta phosphorylates and stabilizes Rev-erbalpha, a negative component of the circadian clock; control of Rev-erbalpha protein stability is a critical component of the peripheral clock and a biological target of lithium therapy, [RefSeq, PubMed]; Functional Characterization of Circadian Nuclear Receptors REV-ERBalpha and REV-ERBbeta in Human Osteosarcoma Cell Cultures. Publication Status: Online-Only, [RefSeq, PubMed]; Functional inversion of circadian regulator REV-ERBalpha leads to tumorigenic gene reprogramming., [RefSeq, PubMed]; Nuclear receptor Rev-erbalpha role in fine-tuning erythropoietin gene expression., [RefSeq, PubMed]; REVERBA couples the circadian clock to Leydig cell steroidogenesis., [RefSeq, PubMed]; This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]., [RefSeq]; Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components BMAL1, CLOCK and CRY1. Also regulates genes involved in metabolic functions, including lipid and bile acid metabolism, adipogenesis, gluconeogenesis and the macrophage inflammatory response. Acts as a receptor for heme which stimulates its interaction with the NCOR1/HDAC3 corepressor complex, enhancing transcriptional repression. Recognizes two classes of DNA response elements within the promoter of its target genes and can bind to DNA as either monomers or homodimers, depending on the nature of the response element. Binds as a monomer to a response element composed of the consensus half-site motif 5'-[A/G]GGTCA-3' preceded by an A/T-rich 5' sequence (RevRE), or as a homodimer to a direct repeat of the core motif spaced by two nucleotides (RevDR-2). Acts as a potent competitive repressor of ROR alpha (RORA) function and regulates the levels of its ligand heme by repressing the expression of PPARGC1A, a potent inducer of heme synthesis. Regulates lipid metabolism by repressing the expression of APOC3 and by influencing the activity of sterol response element binding proteins (SREBPs); represses INSIG2 which interferes with the proteolytic activation of SREBPs which in turn govern the rhythmic expression of enzymes with key functions in sterol and fatty acid synthesis. Regulates gluconeogenesis via repression of G6PC1 and PEPCK and adipocyte differentiation via repression of PPARG. Regulates glucagon release in pancreatic alpha-cells via the AMPK-NAMPT-SIRT1 pathway and the proliferation, glucose-induced insulin secretion and expression of key lipogenic genes in pancreatic-beta cells. Positively regulates bile acid synthesis by increasing hepatic expression of CYP7A1 via repression of NR0B2 and NFIL3 which are negative regulators of CYP7A1. Modulates skeletal muscle oxidative capacity by regulating mitochondrial biogenesis and autophagy; controls mitochondrial biogenesis and respiration by interfering with the STK11-PRKAA1/2-SIRT1-PPARGC1A signaling pathway. Represses the expression of SERPINE1/PAI1, an important modulator of cardiovascular disease and the expression of inflammatory cytokines and chemokines in macrophages. Represses gene expression at a distance in macrophages by inhibiting the transcription of enhancer-derived RNAs (eRNAs). Plays a role in the circadian regulation of body temperature and negatively regulates thermogenic transcriptional programs in brown adipose tissue (BAT); imposes a circadian oscillation in BAT activity, increasing body temperature when awake and depressing thermogenesis during sleep. In concert with NR2E3, regulates transcriptional networks critical for photoreceptor development and function. In addition to its activity as a repressor, can also act as a transcriptional activator. In the ovarian granulosa cells acts as a transcriptional activator of STAR which plays a role in steroid biosynthesis. In collaboration with SP1, activates GJA1 transcription in a heme-independent manner. Represses the transcription of CYP2B10, CYP4A10 and CYP4A14 (By similarity). Represses the transcription of CES2 (By similarity). Represses and regulates the circadian expression of TSHB in a NCOR1-dependent manner (By similarity). Negatively regulates the protein stability of NR3C1 and influences the time-dependent subcellular distribution of NR3C1, thereby affecting its transcriptional regulatory activity (By similarity). Plays a critical role in the circadian control of neutrophilic inflammation in the lung; under resting, non-stress conditions, acts as a rhythmic repressor to limit inflammatory activity whereas in the presence of inflammatory triggers undergoes ubiquitin-mediated degradation thereby relieving inhibition of the inflammatory response (By similarity). Plays a key role in the circadian regulation of microglial activation and neuroinflammation; suppresses microglial activation through the NF-kappaB pathway in the central nervous system (By similarity). Plays a role in the regulation of the diurnal rhythms of lipid and protein metabolism in the skeletal muscle via transcriptional repression of genes controlling lipid and amino acid metabolism in the muscle (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, 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, "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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q0P5Z4;Q15304", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003707 nuclear steroid receptor activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0030425 dendrite;GO:0043197 dendritic spine", "go_biological_process": "GO:1903979 negative regulation of microglial cell activation;GO:0060086 circadian temperature homeostasis;GO:0070859 positive regulation of bile acid biosynthetic process;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "P20393-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62140-1", "uniprot_id": [ { "id": "PP1B_HUMAN", "url": "https://www.uniprot.org/uniprot/P62140", "type": "external" } ], "mass": 37187.0, "length": 327, "protein_name": "Serine/threonine-protein phosphatase PP1-beta catalytic subunit", "gene_name": "PPP1CB", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase PP1-beta catalytic subunit isoform 1", "refseq_ac": [ { "id": "NP_002700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002700", "type": "external" } ], "gene_names_uniprotkb": "PPP1CB", "gene_names_refseq": "HEL-S-80p; MP; NSLH2; PP-1B; PP1B; PP1Cbeta; PP1Cdelta; PP1beta; PP1c; PPP1CB; PPP1CD; PPP1beta", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase PP1-beta catalytic subunit; 3.1.3.16; 3.1.3.53; PP-1B; PPP1CD", "protein_names_refseq": "epididymis secretory sperm binding protein Li 80p; myosin phosphatase; protein phosphatase 1, catalytic subunit, beta isozyme; protein phosphatase 1, catalytic subunit, delta isozyme; protein phosphatase 1-beta; protein phosphatase 1-delta; serine/threonine-protein phosphatase PP1-beta catalytic subunit isoform 1; serine/threonine-protein phosphatase PP1-beta catalytic subunit", "tax_id": 9606, "disease": "Noonan syndrome-like disorder with loose anagen hair 2 (Disease Ontology:DOID:0080693); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5500); (R-HSA-163560); (R-HSA-2173788); (R-HSA-2565942); (R-HSA-5625740); (R-HSA-5625900); (R-HSA-5627117); (R-HSA-5627123); (R-HSA-5673000); (R-HSA-9726840); (R-HSA-9726842); (R-HSA-9770562); (R-HSA-9828806); (R-HSA-9931530)", "pathway_count": 14, "publication_count": 341, "publication_id_list": "10047984;10092231;10205168;10330186;10470034;10519551;10619026;10639334;10669729;10671541;10712905;10748018;10753910;10757800;10790862;10891492;10906760;10924361;10975528;11032810;11060040;11134534;11158580;11163210;11165242;11232563;11237011;11278251;11278486;11313932;11325826;11331307;11399775;11494123;11564868;11739654;11741534;11756411;11804587;11942626;12151385;12198493;12207013;12226088;12244094;12364337;12453877;12519765;12551923;12665801;12783890;12802051;12832420;12932319;12932339;13678582;14514689;14530258;14580336;14701756;14718519;14749727;14750904;15000491;15003508;15035987;15037765;15184667;15258589;15302935;15364929;15378014;15456755;15467451;15496141;15565158;15705855;15710605;15711535;15781469;15791647;15800623;15899852;16027725;16041367;16061177;16093354;16171404;16202622;16204230;16294014;16364920;16431929;16508002;16537381;16630891;16741517;16854367;16890155;17097642;17128255;17301291;17603008;18006505;18083107;18288197;18294816;18378770;18477460;18521620;18566290;18586956;18615013;18662992;18669648;18829550;19049963;19158341;19181555;19217410;19289088;19377461;19413330;19513348;19541618;19684605;19723632;19727074;19758997;19805222;19933846;20061380;20068231;20129061;20166139;20354225;20424263;20444238;20516061;20674547;20695905;20820846;20926688;20937913;21098037;21295486;21351730;21441104;21441910;21504868;21712997;21749319;21779496;22045334;22223895;22293177;22344298;22365832;22424782;22592532;22641346;22813749;22898188;23161543;23186163;23360980;23396208;23444367;23481700;23716662;23783831;23863182;23874216;23906342;23993095;24029068;24076191;24121489;24128008;24149845;24166499;24211266;24347342;24366607;24714562;24715725;24859002;24937142;25137548;25301780;25301781;25418920;25502872;25576301;25645385;25880248;25907612;25965804;26154972;26343583;26728094;26811146;26992070;27264673;27466182;27543614;27681385;27846572;27862975;27868344;27869121;27920218;27999210;28082416;28096519;28211982;28218747;28228285;28289718;28296156;28649982;28666118;28832583;28834231;28904123;28911096;28984291;29186539;29242379;29274231;29331515;29393594;29461827;29493099;29508533;29557506;29632046;29632711;29784789;29786170;29789417;30139799;30257008;30315122;30348783;30368668;30429286;30524438;30779550;3079756;30833945;31059601;31108500;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32816001;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33402344;33592498;33936100;33968037;34019948;34087483;34171305;34211107;34229054;34357683;34509645;34561969;34932366;35008409;35051231;35177536;35318648;35561310;35580925;35768504;35831509;36010968;36175670;36215666;36241641;36284347;37938771;3839510;38665916;39119928;40914422;7542586;7559638;7744815;7796987;8107774;8312365;8521512;8521513;8521514;8543060;8637718;8662509;8876196;8946910;9020159;9215638;9234708;9278512;9335507;9354661;9535855;9659921;9683637;9689060;9792683;9823899;9856985;9858547;9870942;9870943;9889122;9988689", "class_list": "", "function": "Histones Methyltransferase NSD3 Inhibits Lung Adenocarcinoma Glycolysis Through Interacting with PPP1CB to Decrease STAT3 Signaling Pathway., [RefSeq, PubMed]; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. May dephosphorylate CSNK1D and CSNK1E. Dephosphorylates the 'Ser-418' residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208). Core component of the SHOC2-MRAS-PP1c (SMP) holophosphatase complex that regulates the MAPK pathway activation (PubMed:35768504, PubMed:35831509, PubMed:36175670). The SMP complex specifically dephosphorylates the inhibitory phosphorylation at 'Ser-259' of RAF1 kinase, 'Ser-365' of BRAF kinase and 'Ser-214' of ARAF kinase, stimulating their kinase activities (PubMed:35768504, PubMed:35831509, PubMed:36175670). The SMP complex enhances the dephosphorylation activity and substrate specificity of PP1c (PubMed:35768504, PubMed:36175670)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]., [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": 5, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R5V4;D6W565;P37140;Q5U087;Q6FG45", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "2.7.11.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.18", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" } ], "go_molecular_function": "GO:0050115 myosin-light-chain-phosphatase activity;GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0016791 phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0030155 regulation of cell adhesion;GO:0051301 cell division;GO:0000165 MAPK cascade;GO:0005977 glycogen metabolic process", "synthesized_glycan_count": 0, "hit_score": 34.4, "record_id": "P62140-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95863-1", "uniprot_id": [ { "id": "SNAI1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95863", "type": "external" } ], "mass": 29083.0, "length": 264, "protein_name": "Zinc finger protein SNAI1", "gene_name": "SNAI1", "organism": "Human", "refseq_name": "zinc finger protein SNAI1", "refseq_ac": [ { "id": "NP_005976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005976", "type": "external" } ], "gene_names_uniprotkb": "SNAI1; SNAH", "gene_names_refseq": "SLUGH2; SNAH; SNAI1; SNAIL1; SNAIL; SNA; dJ710H13.1", "protein_names_uniprotkb": "Zinc finger protein SNAI1; Protein snail homolog 1; Protein sna", "protein_names_refseq": "protein snail homolog 1; protein sna; snail 1 homolog; snail 1 zinc finger protein; snail family zinc finger 1; zinc finger protein SNAI1", "tax_id": 9606, "disease": "rheumatic heart disease (Disease Ontology:DOID:0050827); dilated cardiomyopathy (Disease Ontology:DOID:12930); skin cancer (Disease Ontology:DOID:4159); colorectal cancer (Disease Ontology:DOID:9256); oral mucosa leukoplakia (Disease Ontology:DOID:9655)", "pathway": " (hsa:6615); (R-HSA-8943724); (R-HSA-9758919); (R-HSA-9762293); (R-HSA-9764725)", "pathway_count": 5, "publication_count": 107, "publication_id_list": "10543399;10585766;10655587;11245431;11378386;11545734;11781575;11912130;11959846;12700765;15302935;15448698;15542832;15647282;15699330;15833848;15836774;16096638;16418168;16676006;16702404;16793922;17130829;17873065;17974977;18172008;18331720;18391013;18487508;19386897;19440552;19860811;19884659;19923321;19955572;20121949;20233713;20305697;20385133;20389281;20418909;20516213;20562920;20871592;20940406;20959806;21289308;21300290;21454664;21577210;21952048;22128185;22128911;22158034;22227038;22276203;22791710;22923499;23287862;23449453;23466526;23721412;23891091;24130169;24157836;24699649;24718924;24810778;25203322;25728608;25728771;25827072;25893292;26212009;26246285;26910647;28423359;29059170;29228645;29269046;29296180;29393594;29618518;29642003;29729076;30800215;30804505;30898548;31911859;32157095;32161166;32463580;33608512;33633747;34335956;35008676;35138000;35292107;35580925;35851744;36241641;38369181;38715171;38815798;38890750;39390584;40596516", "class_list": "", "function": "CXCR2/Snail-1-Induced Epithelial-Mesenchymal Transition in the Formation and Progression of RCC with Inferior Vena Cava Tumour Thrombus., [RefSeq, PubMed]; Chaperone-mediated autophagy modulates Snail protein stability: implications for breast cancer metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Energy stress-activated AMPK phosphorylates Snail1 and suppresses its stability and oncogenic function., [RefSeq, PubMed]; Growth differentiation factor-11 upregulates matrix metalloproteinase 2 expression by inducing Snail in human extravillous trophoblast cells., [RefSeq, PubMed]; Involved in induction of the epithelial to mesenchymal transition (EMT), formation and maintenance of embryonic mesoderm, growth arrest, survival and cell migration (PubMed:10655587, PubMed:15647282, PubMed:20389281, PubMed:20562920, PubMed:21952048, PubMed:25827072). Binds to 3 E-boxes of the E-cadherin/CDH1 gene promoter and to the promoters of CLDN7 and KRT8 and, in association with histone demethylase KDM1A which it recruits to the promoters, causes a decrease in dimethylated H3K4 levels and represses transcription (PubMed:10655587, PubMed:20389281, PubMed:20562920). The N-terminal SNAG domain competes with histone H3 for the same binding site on the histone demethylase complex formed by KDM1A and RCOR1, and thereby inhibits demethylation of histone H3 at 'Lys-4' (in vitro) (PubMed:20389281, PubMed:21300290, PubMed:23721412). During EMT, involved with LOXL2 in negatively regulating pericentromeric heterochromatin transcription (PubMed:16096638). SNAI1 recruits LOXL2 to pericentromeric regions to oxidize histone H3 and repress transcription which leads to release of heterochromatin component CBX5/HP1A, enabling chromatin reorganization and acquisition of mesenchymal traits (By similarity). Associates with EGR1 and SP1 to mediate tetradecanoyl phorbol acetate (TPA)-induced up-regulation of CDKN2B, possibly by binding to the CDKN2B promoter region 5'-TCACA-3 (PubMed:20121949). In addition, may also activate the CDKN2B promoter by itself (PubMed:20121949)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; TFAP2A downregulation mediates tumor-suppressive effect of miR-8072 in triple-negative breast cancer via inhibiting SNAI1 transcription. Publication Status: Online-Only, [RefSeq, PubMed]; The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "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": 29, "reported_mutagensis": 47, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R842;Q9P113;Q9UBP7;Q9UHH7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019900 kinase binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA 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;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005721 pericentric heterochromatin", "go_biological_process": "GO:0010957 negative regulation of vitamin D biosynthetic process;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007219 Notch signaling pathway;GO:0030335 positive regulation of cell migration;GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "O95863-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q71RC9-1", "uniprot_id": [ { "id": "SMIM5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q71RC9", "type": "external" } ], "mass": 8540.0, "length": 77, "protein_name": "Small integral membrane protein 5", "gene_name": "SMIM5", "organism": "Human", "refseq_name": "small integral membrane protein 5", "refseq_ac": [ { "id": "NP_001156467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156467", "type": "external" } ], "gene_names_uniprotkb": "SMIM5; C17orf109", "gene_names_refseq": "C17orf109; PP12104; SMIM5", "protein_names_uniprotkb": "Small integral membrane protein 5", "protein_names_refseq": "small integral membrane protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:643008)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "28832583;31154438;39894887", "class_list": "", "function": "", "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q71RC9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SE5-1", "uniprot_id": [ { "id": "RALYL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SE5", "type": "external" } ], "mass": 32331.0, "length": 291, "protein_name": "RNA-binding Raly-like protein", "gene_name": "RALYL", "organism": "Human", "refseq_name": "RNA-binding Raly-like protein isoform 1", "refseq_ac": [ { "id": "NP_001093861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093861", "type": "external" } ], "gene_names_uniprotkb": "RALYL; HNRPCL3", "gene_names_refseq": "HNRPCL3; RALYL", "protein_names_uniprotkb": "RNA-binding Raly-like protein; Heterogeneous nuclear ribonucleoprotein C-like 3; hRALYL; hnRNP core protein C-like 3", "protein_names_refseq": "RNA-binding Raly-like protein isoform 1; RNA-binding Raly-like protein; heterogeneous nuclear ribonucleoprotein C-like 3; hnRNP core protein C-like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:138046)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;12688537;20068231;28411811;28832583;29557506;31844290;33298176;33437214", "class_list": "", "function": "Exploring the role of RALYL in Alzheimer's disease reserve by network-based approaches. Publication Status: Online-Only, [RefSeq, PubMed]; Over-expression of RALYL suppresses the progression of ovarian clear cell carcinoma through inhibiting MAPK and CDH1 signaling pathways. 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, "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": 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": "B3KTH2;G3V129;Q6ZW87;Q8N1C2", "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_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q86SE5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UM13-1", "uniprot_id": [ { "id": "APC10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UM13", "type": "external" } ], "mass": 21252.0, "length": 185, "protein_name": "Anaphase-promoting complex subunit 10", "gene_name": "ANAPC10", "organism": "Human", "refseq_name": "anaphase-promoting complex subunit 10 isoform 1", "refseq_ac": [ { "id": "NP_001243635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243635", "type": "external" } ], "gene_names_uniprotkb": "ANAPC10; APC10", "gene_names_refseq": "ANAPC10; APC10; DOC1", "protein_names_uniprotkb": "Anaphase-promoting complex subunit 10; APC10; Cyclosome subunit 10", "protein_names_refseq": "anaphase-promoting complex subunit 10 isoform 1; cyclosome subunit 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:10393); (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": 140, "publication_id_list": "10201372;10318877;10318916;10339564;10411507;10432220;10498862;10548110;10679238;10733526;10793135;10884341;10995389;11046155;11062501;11081627;11114305;11125146;11230166;11237011;11248027;11285280;11340163;11350924;11371342;11509732;11524682;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;16595681;16626623;16648845;16824194;16849449;16954532;17187060;17234884;17485488;18267069;18411265;18485873;18555777;18555778;18662542;19028597;19352404;19452197;19489725;19805069;19851334;19874575;19896182;19940261;20028861;20351173;20452968;21325273;21670496;2183031;21979375;22084091;22178396;2261476;22634325;22885700;23481700;23603117;23846687;23851460;2405250;24706756;24714562;25043029;25231993;25576301;26083744;26222030;26375851;26992070;27120157;27249176;27509861;28218747;28832583;29033132;29242379;29393594;29437277;30379171;30410026;31023143;31844290;32157095;32938616;33298915;33592498;33912179;33968037;34211107;34595750;35051231;35580925;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9380723;9635433;9668046;9892021", "class_list": "", "function": "ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011]., [RefSeq]; APC10 was overexpressed in non-small cell lung cancer cell lines compared to human bronchial epithelial cell lines. APC10 was shown to interact with GAC; knocking down APC10 downregulated glutamine metabolism to induce autophagy, resulting in effective inhibition of the proliferation and migration of non-small cell lung cancer cells., [RefSeq, PubMed]; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex 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. The APC/C complex catalyzes assembly of branched 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on target proteins., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, 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": 0, "reported_mutagensis": 0, "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": "D3DNZ7;Q2V500;Q9UG51;Q9Y5R0", "ec_number_list": [], "go_molecular_function": "", "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", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q9UM13-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78560-1", "uniprot_id": [ { "id": "CRADD_HUMAN", "url": "https://www.uniprot.org/uniprot/P78560", "type": "external" } ], "mass": 22745.0, "length": 199, "protein_name": "Death domain-containing protein CRADD", "gene_name": "CRADD", "organism": "Human", "refseq_name": "death domain-containing protein CRADD isoform 1", "refseq_ac": [ { "id": "NP_001307028", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307028", "type": "external" } ], "gene_names_uniprotkb": "CRADD; RAIDD", "gene_names_refseq": "CRADD; MRT34; RAIDD", "protein_names_uniprotkb": "Death domain-containing protein CRADD; Caspase and RIP adapter with death domain; RIP-associated protein with a death domain", "protein_names_refseq": "CASP2 and RIPK1 domain containing adaptor with death domain; RIP-associated ICH1/CED3-homologous protein with death domain; caspase and RIP adaptor with death domain; death adaptor molecule RAIDD; death domain containing protein CRADD; death domain-containing protein CRADD isoform 1", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 34 (Disease Ontology:DOID:0081200); choroideremia (Disease Ontology:DOID:9821)", "pathway": " (hsa:8738); (R-HSA-6803207)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10393175;10973264;11237011;11278253;11390368;11559530;11717445;12089322;12198154;1373520;14688482;15073321;15580302;16135520;16183742;16652156;17159900;17284521;17289572;20303873;22279524;22854598;23703390;25528640;27846572;29557506;30429286;31092671;32157095;32502341;32897882;32938616;33298915;33592498;33647455;33968037;34171305;35494241;8242741;8985253;9044836;9695946", "class_list": "", "function": "Adapter protein that associates with PIDD1 and the caspase CASP2 to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis (PubMed:15073321, PubMed:16652156, PubMed:17159900, PubMed:17289572, PubMed:9044836). Also recruits CASP2 to the TNFR-1 signaling complex through its interaction with RIPK1 and TRADD and may play a role in the tumor necrosis factor-mediated signaling pathway (PubMed:8985253)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies., [RefSeq, PubMed]; This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [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": 1, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z2Q5", "ec_number_list": [], "go_molecular_function": "GO:0070513 death domain binding;GO:0002020 protease binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0097190 apoptotic signaling pathway;GO:2001235 positive regulation of apoptotic signaling pathway;GO:0006974 DNA damage response;GO:0071260 cellular response to mechanical stimulus", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "P78560-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXS5-1", "uniprot_id": [ { "id": "AP1M1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXS5", "type": "external" } ], "mass": 48587.0, "length": 423, "protein_name": "AP-1 complex subunit mu-1", "gene_name": "AP1M1", "organism": "Human", "refseq_name": "AP-1 complex subunit mu-1 isoform 1", "refseq_ac": [ { "id": "NP_001123996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123996", "type": "external" } ], "gene_names_uniprotkb": "AP1M1; CLTNM", "gene_names_refseq": "AP1M1; AP47; CLAPM2; CLTNM; MU-1A; mu1A", "protein_names_uniprotkb": "AP-1 complex subunit mu-1; AP-mu chain family member mu1A; Adaptor protein complex AP-1 subunit mu-1; Adaptor-related protein complex 1 subunit mu-1; Clathrin assembly protein complex 1 mu-1 medium chain 1; Clathrin coat assembly protein AP47; Clathrin coat-associated protein AP47; Golgi adaptor HA1/AP1 adaptin mu-1 subunit; Mu-adaptin 1; Mu1A-adaptin", "protein_names_refseq": "AP-1 complex subunit mu-1 isoform 1; AP-1 complex subunit mu-1; AP-mu chain family member mu1A; HA1 47 kDa subunit; adapter-related protein complex 1 subunit mu-1; adaptor protein complex AP-1 mu-1 subunit; adaptor protein complex AP-1 subunit mu-1; adaptor related protein complex 1 mu 1 subunit; clathrin adaptor protein AP47; clathrin assembly protein complex 1 medium chain 1; clathrin assembly protein complex 1 mu-1 medium chain 1; clathrin assembly protein complex 1, medium chain; clathrin assembly protein complex AP1, mu subunit; clathrin coat assembly protein AP47; clathrin coat-associated protein AP47; golgi adaptor AP-1 47 kDa protein; golgi adaptor HA1/AP1 adaptin mu-1 subunit; mu-adaptin 1; mu1A-adaptin", "tax_id": 9606, "disease": "", "pathway": " (hsa:8907); (R-HSA-164940); (R-HSA-2132295); (R-HSA-432720); (R-HSA-432722); (R-HSA-6798695)", "pathway_count": 6, "publication_count": 170, "publication_id_list": "10036229;10064083;10072072;10394364;10436028;10480952;10540230;10593899;10631941;10631952;10639150;10748235;10809954;11139587;11237011;11333915;11529500;11590181;11604418;11684289;11694590;11790530;11813165;11853874;11877461;11994746;12078484;12198549;12742663;12748383;14731593;15102850;15569716;15749704;15911768;16155256;16181339;16242130;16618111;16824007;16867982;16959974;17116749;17142755;17283181;18046453;18073204;18292509;19531498;19559397;1956401;19564404;19651769;20068231;20230749;20708039;20934997;21116285;2121367;21441454;21620353;21654843;2190094;22223895;23186163;23481700;23650620;2391366;24275569;24366607;24714562;24715725;25418920;25505266;25576301;25810538;25892735;26154972;26375851;26728094;26992070;27452731;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29314611;29351928;29393594;29437277;29493099;29508533;29535204;29557506;29632046;29769354;29786170;29793951;30135209;30315122;30410026;31154438;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34357683;34509645;35051231;35318648;35561310;35580925;36241641;36284347;36581221;37217939;40596516;7481823;7592972;7650016;7667286;8046351;8134367;8145819;8148318;8313912;8374173;8397411;8415765;8524399;8642258;8670264;8687433;8692836;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180;9733768", "class_list": "", "function": "Found 31 ORF9p interaction partners, among which was AP1M1, the mu subunit of the adaptor protein complex 1 (AP-1). AP-1 is a heterotetramer involved in intracellular vesicle-mediated transport and regulates the shuttling of cargo proteins between endosomes and the trans-Golgi network via clathrin-coated vesicles. Publication Status: Online-Only, [RefSeq, PubMed]; Here, the authors demonstrate that dileucine motifs in the hepatitis C virus NS2 protein mediate AP-1A, AP-1B, and AP-4 binding and cell-free virus release. Moreover, they reveal that AP-4, an adaptor not previously implicated in viral infections, mediates cell-to-cell spread and hepatitis C virus trafficking. Publication Status: Online-Only, [RefSeq, PubMed]; It has been shown that the cytoplasmic domains of furin bind the mu subunits of AP-1 and AP-2 in a phosphorylation-dependent manner., [RefSeq, PubMed]; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [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, "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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4TTY5", "ec_number_list": [], "go_molecular_function": "GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:1903232 melanosome assembly;GO:0006886 intracellular protein transport;GO:0060155 platelet dense granule organization;GO:0016192 vesicle-mediated transport;GO:0032438 melanosome organization", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "Q9BXS5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBB1-1", "uniprot_id": [ { "id": "LNX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBB1", "type": "external" } ], "mass": 80629.0, "length": 728, "protein_name": "E3 ubiquitin-protein ligase LNX", "gene_name": "LNX1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase LNX isoform a", "refseq_ac": [ { "id": "NP_001119800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119800", "type": "external" } ], "gene_names_uniprotkb": "LNX1; LNX; PDZRN2; PRO1136", "gene_names_refseq": "LNX1; LNX; MPDZ; PDZRN2", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase LNX; 2.3.2.27; Ligand of Numb-protein X 1; Numb-binding protein 1; PDZ domain-containing RING finger protein 2; RING-type E3 ubiquitin transferase LNX", "protein_names_refseq": "E3 ubiquitin-protein ligase LNX isoform a; PDZ domain-containing ring finger protein 2; RING-type E3 ubiquitin transferase LNX; ligand of numb-protein X 1, E3 ubiquitin protein ligase; multi-PDZ-domain-containing protein, E3 ubiquitin-protein ligase LNX; numb-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84708); (R-HSA-983168)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "11062501;11237011;11350924;11521506;12468544;12646216;12975309;14734113;15224091;15224092;15367597;15571818;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20864041;2261476;23186163;23481700;26154972;27846572;27920218;28228285;28832583;29557506;31154438;31217245;31844290;31937595;31998317;32502341;33141586;35051231;35580925;9380723;9535908;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65., [UniProtKB, UniProtKB]; Identifed ligand of Numb protein X as an Np9-interacting partner; findings point to the possibility that Np9 affects tumorigenesis through the LNX/Numb/Notch pathway, [RefSeq, PubMed]; Isoform 2 provides an endocytic scaffold for IGSF5/JAM4., [UniProtKB, UniProtKB]; The tyrosine phosphorylation of the LDNPAY sequence motif in mouse LNX could generate a binding site for the phosphorylation-dependent binding of other PTB domain-containing proteins., [RefSeq, PubMed]; This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "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": "Q4W5K7;Q8N4C2;Q96MJ7;Q9BY20", "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:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity;GO:0030165 PDZ domain binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030054 cell junction;GO:0098794 postsynapse;GO:0098686 hippocampal mossy fiber to CA3 synapse", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0060074 synapse maturation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q8TBB1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07311-1", "uniprot_id": [ { "id": "ACYP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P07311", "type": "external" } ], "mass": 11261.0, "length": 99, "protein_name": "Acylphosphatase-1", "gene_name": "ACYP1", "organism": "Human", "refseq_name": "acylphosphatase-1 isoform a", "refseq_ac": [ { "id": "NP_001098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098", "type": "external" } ], "gene_names_uniprotkb": "ACYP1; ACYPE", "gene_names_refseq": "ACYP1; ACYPE", "protein_names_uniprotkb": "Acylphosphatase-1; 3.6.1.7; Acylphosphatase, erythrocyte isozyme; Acylphosphatase, organ-common type isozyme; Acylphosphate phosphohydrolase 1", "protein_names_refseq": "acylphosphatase 1, erythrocyte (common) type; acylphosphatase, erythrocyte isozyme; acylphosphatase, organ-common type isozyme; acylphosphatase-1 isoform a; acylphosphate phosphohydrolase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:97)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12409302;14992377;16511269;19196981;20068231;3026468;32350084;33592498;33968037;34357683;34626299;35251023;7796909", "class_list": "", "function": "Clinical Significance of Acylphosphatase 1 Expression in Combined HCC-iCCA, HCC, and iCCA., [RefSeq, PubMed]; Data show that CT acylphosphatase catalyzes the hydrolysis of aryl phosphates and acyl phosphates by two different mechanisms., [RefSeq, PubMed]; This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]., [RefSeq]; Two products of the ACYP1 gene are characterized as the result of alternative splicing in which an extra 79 bp long exon is inserted between the two known exons, [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": 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": 1, "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": "A6NDV8;B2R590", "ec_number_list": [ { "id": "3.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.7", "type": "external" } ], "go_molecular_function": "GO:0003998 acylphosphatase activity", "go_cellular_component": "", "go_biological_process": "GO:0006796 phosphate-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P07311-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5G4-1", "uniprot_id": [ { "id": "GOGA7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5G4", "type": "external" } ], "mass": 15824.0, "length": 137, "protein_name": "Golgin subfamily A member 7", "gene_name": "GOLGA7", "organism": "Human", "refseq_name": "golgin subfamily A member 7 isoform a", "refseq_ac": [ { "id": "NP_001002296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002296", "type": "external" } ], "gene_names_uniprotkb": "GOLGA7; GCP16; HDCKB03P; HSPC041", "gene_names_refseq": "GCP16; GOLGA3AP1; GOLGA7A; GOLGA7; HSPC041", "protein_names_uniprotkb": "Golgin subfamily A member 7; Golgi complex-associated protein of 16 kDa", "protein_names_refseq": "Golgi complex-associated protein of 16kDa; golgi autoantigen, golgin subfamily a, 7; golgi complex-associated protein of 16 kDa; golgin subfamily A member 7 isoform a; golgin subfamily A member 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:51125); (R-HSA-6798695); (R-HSA-9648002); (R-HSA-9694548)", "pathway_count": 4, "publication_count": 136, "publication_id_list": "10085068;10085069;10667208;11038283;11120601;11196150;11237011;11585916;11739732;12433685;12727204;12750467;14522980;14561760;14660603;14966563;15451670;15659645;16000296;16043511;16483930;18182391;18502828;19188362;19913121;20416930;20418879;20622895;20802526;21170358;21661760;21779505;21872626;21905185;21905186;21993680;22002721;22144181;22179043;22195972;22299025;22589270;22721555;22915798;23481700;23514631;23650620;23698361;23943869;24033119;24714562;24725411;24971579;25550383;25645385;25713064;25759176;25781681;26085527;26375851;26590425;2661017;26701913;26706195;26728094;26771141;2682646;26992070;27094677;27396271;27410739;27600516;27697864;27791178;27846572;27920218;28167504;28228285;28467828;28630138;28666118;28778966;28832583;28834231;29242379;29311131;29314611;29424242;29508533;29557506;29786170;30429286;30573663;30833945;31092671;31154438;31844290;31848261;32157095;32161166;32350084;32363391;32366695;32387766;32502341;32518941;32676595;32877642;32897882;32938616;32983136;33310888;33717175;33912179;33936100;33968037;34117209;34357683;34428449;34528721;34599882;34932366;34961524;35051231;35154160;35251023;35561310;35580925;36010968;36284347;7986008;8692836;9436858;9810004;9822558;9851253", "class_list": "", "function": "Data show that H- and N-Ras are palmitoylated by a human protein palmitoyltransferase encoded by the ZDHHC9 and GCP16 genes., [RefSeq, PubMed]; May be involved in protein transport from Golgi to cell surface. The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results indicate that GCP16 is the acylated membrane protein, associated with GCP170, and possibly involved in vesicular transport from the Golgi to the cell surface, [RefSeq, PubMed]; The interactions of ZDHHC5/GOLGA7 with SARS-CoV-2 spike (S) protein and their effects on S protein's subcellular localization, palmitoylation and pseudovirus entry. Erratum:[Virol J. 2022 Feb 3;19(1):25. doi: 10.1186/s12985-022-01750-0. PMID: 35115020] 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, "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": 4, "reported_glycation": 0, "reported_snv": 1, "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": "D3DSX9;J3KQ24;Q96EQ4;Q9P1S0;Q9Y5U7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0070062 extracellular exosome;GO:1904724 tertiary granule lumen;GO:0005795 Golgi stack", "go_biological_process": "GO:0043687 post-translational protein modification;GO:0006612 protein targeting to membrane;GO:0043001 Golgi to plasma membrane protein transport;GO:0006893 Golgi to plasma membrane transport;GO:0018230 peptidyl-L-cysteine S-palmitoylation", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q7Z5G4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05198-1", "uniprot_id": [ { "id": "IF2A_HUMAN", "url": "https://www.uniprot.org/uniprot/P05198", "type": "external" } ], "mass": 36112.0, "length": 315, "protein_name": "Eukaryotic translation initiation factor 2 subunit 1", "gene_name": "EIF2S1", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 2 subunit 1", "refseq_ac": [ { "id": "NP_004085", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004085", "type": "external" } ], "gene_names_uniprotkb": "EIF2S1; EIF2A", "gene_names_refseq": "EIF-2A; EIF-2alpha; EIF-2; EIF2A; EIF2S1; EIF2", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 2 subunit 1; Eukaryotic translation initiation factor 2 subunit alpha; eIF-2-alpha; eIF-2A; eIF-2alpha; eIF2-alpha", "protein_names_refseq": "eIF-2-alpha; eIF2-alpha; eukaryotic translation initiation factor 2 subunit 1; eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); leukodystrophy (Disease Ontology:DOID:10579); Alzheimer's disease (Disease Ontology:DOID:10652); propionic acidemia (Disease Ontology:DOID:14701); transient cerebral ischemia (Disease Ontology:DOID:224); middle cerebral artery infarction (Disease Ontology:DOID:3525); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:1965); (R-HSA-156827); (R-HSA-381042); (R-HSA-382556); (R-HSA-72649); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72731); (R-HSA-9633012); (R-HSA-9648895); (R-HSA-9833482); (R-HSA-9840373)", "pathway_count": 13, "publication_count": 381, "publication_id_list": "10026192;10082513;10348343;10364207;10400669;10484077;10504407;10542257;10563826;10620360;10626894;10648614;10659855;10665657;10748049;10848580;10866685;1095581;10982836;11018020;11018027;11041858;1104615;11096080;11134010;11152499;11156368;11163539;11237011;11238103;11238927;11241327;11278865;11313968;11337501;11350938;11438540;11500375;11504826;11562789;11677247;11691921;11781817;11812794;11859078;11907036;11909525;11939789;11985496;12231563;12370288;12379217;12379510;12397061;12403779;12588972;12604685;12882984;1352877;1356264;1359686;1373135;1377674;1400365;14567916;14585331;14630918;14661924;15175422;15207627;15229216;15299030;15314157;15341733;15355306;15385533;15472518;15684420;15737233;15752359;15775988;15781252;15863492;15899824;15907845;16026328;16179258;16179259;16288713;16289705;16373505;16431927;16600570;16717090;1677563;16816140;16901789;1695551;16982605;16989641;17079286;17140605;17196820;17267404;17404396;17523162;17726049;17855752;17894550;17956313;17977821;17998206;18032499;18055463;18096616;18282684;18285520;18434309;1856230;18596238;18664456;18835251;18957415;19002207;19131336;19229320;19416861;19447222;19570978;19608861;1968359;19690332;19710021;19733181;19804757;19838063;19862647;1998343;20068231;20361218;20395957;20423929;20519500;20583968;20621639;20685959;21072047;21123651;2116318;21294215;21518807;21636578;21937648;21978664;21994559;22178883;22214662;22424782;2247437;22544926;22986343;23063411;23063529;23084476;23186163;23229543;23269699;23481700;23732991;23876217;24019521;24190977;24275569;24347309;24366607;24623135;24659800;24685677;24715725;24753571;2475911;2491852;25133187;25433032;25576301;25645385;25653431;25660019;2570070;25848059;25931127;25937070;26154972;26208431;26375851;26432638;26446704;26488609;26716879;26817845;26923599;26992070;27208315;27269119;27423063;27526673;27600516;27846572;27920218;27974558;28063628;28069888;28132103;28167698;28218747;28228285;28281686;28657654;28765891;28814160;28832583;28834231;28904123;2898143;29170442;29175459;29231267;29242379;29348664;29393594;29394925;29395325;29413899;29440070;2948954;29493099;29501855;29557506;29632046;29786170;29789417;30070006;30174290;30315122;30429286;30524438;30551605;30770398;30779550;30804176;30833945;31020640;31031002;31048492;31092671;31217245;31222486;31530632;31836389;31844290;31848261;31998317;32093270;32119511;32132706;32132707;32157095;32161166;32357974;32387766;32488085;32502341;32513922;32574038;32716602;32801355;32897882;32938616;32981041;32983136;33043033;33141586;33214551;33298915;33384352;3352609;3356695;33592498;33691108;33717175;33808629;33911136;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34174402;34185709;34357683;34405274;34509645;34561969;3457471;3472246;34725712;34932366;34974812;35031321;35051231;35138101;35163244;35251023;35388015;35580925;35685460;35947956;36010968;36241641;36284347;36712380;37127961;37217939;37327776;37550454;37828427;37938771;38151653;38272235;38340717;38665916;39036837;40136647;40596516;40914422;429297;592398;592399;641056;6853548;7000367;7491766;7515177;7523390;7529176;7545299;7553863;7553864;7565688;7693978;7737357;7865904;7903669;8099443;8336711;8576172;8576179;8661426;8810342;8910500;8943342;9034343;9045610;9079663;9153226;9211906;9442054;9521856;9528799;9652413;9687506;9732867;9737981;9816258;9819388;9819435;9831708;9857202;9920933", "class_list": "", "function": "Activation of BZW1 by CEBPB in macrophages promotes eIF2alpha phosphorylation-mediated metabolic reprogramming and endoplasmic reticulum stress in MRL/lpr lupus-prone mice. Publication Status: Online-Only, [RefSeq, PubMed]; CHIP suppresses the proliferation and migration of A549 cells by mediating the ubiquitination of eIF2alpha and upregulation of tumor suppressor RBM5., [RefSeq, PubMed]; Member of the eIF2 complex that functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA (PubMed:16289705, PubMed:38340717). This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S pre-initiation complex (43S PIC) (PubMed:16289705). Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex (PubMed:16289705). In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF2B (PubMed:16289705). EIF2S1/eIF2-alpha is a key component of the integrated stress response (ISR), required for adaptation to various stress: phosphorylation by metabolic-stress sensing protein kinases (EIF2AK1/HRI, EIF2AK2/PKR, EIF2AK3/PERK and EIF2AK4/GCN2) in response to stress converts EIF2S1/eIF2-alpha in a global protein synthesis inhibitor, leading to an attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activators ATF4 and QRICH1, and hence allowing ATF4- and QRICH1-mediated reprogramming (PubMed:19131336, PubMed:33384352, PubMed:38340717). EIF2S1/eIF2-alpha also acts as an activator of mitophagy in response to mitochondrial damage: phosphorylation by EIF2AK1/HRI promotes relocalization to the mitochondrial surface, thereby triggering PRKN-independent mitophagy (PubMed:38340717)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; MiR-3074-5p Regulates Trophoblasts Function via EIF2S1/GDF15 Pathway in Recurrent Miscarriage., [RefSeq, PubMed]; The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010]., [RefSeq]; Unfolded protein response markers Grp78 and eIF2alpha are upregulated with increasing alpha-synuclein levels in Lewy body disease., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0043022 ribosome binding;GO:0003743 translation initiation factor activity;GO:0160296 cap-dependent translation initiation factor activity;GO:0160297 IRES-mediated translation initiation factor activity", "go_cellular_component": "GO:0044207 translation initiation ternary complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0034605 cellular response to heat;GO:0006413 translational initiation;GO:0034599 cellular response to oxidative stress;GO:0006446 regulation of translational initiation;GO:0036499 PERK-mediated unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 38.8, "record_id": "P05198-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y217-1", "uniprot_id": [ { "id": "MTMR6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y217", "type": "external" } ], "mass": 71968.0, "length": 621, "protein_name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6", "gene_name": "MTMR6", "organism": "Human", "refseq_name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 isoform 1", "refseq_ac": [ { "id": "NP_004676", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004676", "type": "external" } ], "gene_names_uniprotkb": "MTMR6", "gene_names_refseq": "MTMR6", "protein_names_uniprotkb": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6; 3.1.3.95; Myotubularin-related protein 6; Phosphatidylinositol-3-phosphate phosphatase", "protein_names_refseq": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 isoform 1; phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphate phosphatase", "tax_id": 9606, "disease": "centronuclear myopathy X-linked (Disease Ontology:DOID:0111225); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); centronuclear myopathy (Disease Ontology:DOID:14717)", "pathway": " (hsa:9107); (R-HSA-1660499)", "pathway_count": 2, "publication_count": 165, "publication_id_list": "10194451;10224048;10555148;10559940;10593988;10753883;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11604140;11676921;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;12847286;12890864;14516276;14617813;14660569;15080793;15107860;15135396;15464023;15716355;15797027;15831468;15840652;16154996;16399794;16476736;16522682;16787938;16847315;16914545;16979564;17008356;17081983;17245604;17651088;18093523;18669648;18753295;19038970;19651622;19896968;20068231;20534812;21204784;22037487;22424782;22544926;22647598;23145062;23186163;23188820;23481700;23519112;23758345;24275569;24591580;24714562;24715725;25418920;25495341;25576301;25645385;25802875;25880248;25892735;26154972;26375851;26929215;26992070;27846572;27862975;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29786170;30315122;30429286;30524438;31217245;31844290;31894107;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34357683;34405274;34509645;34932366;35051231;35318648;35494241;35580925;36010968;36284347;37074911;37938771;38330797;38838015;7608176;7624799;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9736772;9811831;9830063", "class_list": "", "function": "Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP., [RefSeq, PubMed]; Investigation of MTM1 and MTMR6 and finding that they use PtdIns(3,5)P2 in addition to PtdIns3P as a substrate in vitro, [RefSeq, PubMed]; Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate (PubMed:19038970, PubMed:22647598). Binds with high affinity to phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) but also to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), and phosphatidylinositol 5-phosphate (PtdIns(5)P), phosphatidic acid and phosphatidylserine (PubMed:19038970). Negatively regulates ER-Golgi protein transport (By similarity). Probably in association with MTMR9, plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3-phosphate in membrane ruffles (PubMed:24591580). Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4(+) T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3-phosphate (PubMed:15831468). Negatively regulates proliferation of reactivated CD4(+) T-cells (PubMed:16847315). In complex with MTMR9, negatively regulates DNA damage-induced apoptosis (PubMed:19038970, PubMed:22647598). The formation of the MTMR6-MTMR9 complex stabilizes both MTMR6 and MTMR9 protein levels (PubMed:19038970)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Myotubularin-related protein 6 is an ion channel-associated pro-leishmanial phosphatase., [RefSeq, PubMed]; Rescue experiments using MTMR6 overexpression further verified that MTMR6 was a functional target of miR-506-3p. Our data indicate that miR-506-3p might serve as a tumor suppressor gene and propose a new regulatory mechanism of MTMR6 by miR-506-3p in ovarian cancer ., [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": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RBB5;B3KSB4;Q5JRG6;Q86TB7;Q86YH4;Q96P80", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.64", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" } ], "go_molecular_function": "GO:0106018 phosphatidylinositol-3,5-bisphosphate phosphatase activity;GO:0004722 protein serine/threonine phosphatase activity;GO:0004438 phosphatidylinositol-3-phosphate phosphatase activity;GO:0004725 protein tyrosine phosphatase activity;GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006897 endocytosis;GO:0006470 protein dephosphorylation;GO:0006661 phosphatidylinositol biosynthetic process;GO:0046856 phosphatidylinositol dephosphorylation;GO:0046488 phosphatidylinositol metabolic process", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "Q9Y217-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53GG5-1", "uniprot_id": [ { "id": "PDLI3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53GG5", "type": "external" } ], "mass": 39232.0, "length": 364, "protein_name": "PDZ and LIM domain protein 3", "gene_name": "PDLIM3", "organism": "Human", "refseq_name": "PDZ and LIM domain protein 3 isoform b", "refseq_ac": [ { "id": "NP_001107579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107579", "type": "external" } ], "gene_names_uniprotkb": "PDLIM3; ALP", "gene_names_refseq": "ALP; PDLIM3", "protein_names_uniprotkb": "PDZ and LIM domain protein 3; Actinin-associated LIM protein; Alpha-actinin-2-associated LIM protein", "protein_names_refseq": "PDZ and LIM domain protein 3 isoform b; alpha-actinin-2-associated LIM protein; enigma homolog", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431)", "pathway": " (hsa:27295)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10063829;11237011;15084604;19901323;21549096;24275569;29557506;31154438;31424159;35580925;35647201;9334352", "class_list": "", "function": "Comprehensive Analysis of PDLIM3 Expression Profile, Prognostic Value, and Correlations with Immune Infiltrates in Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in the organization of actin filament arrays within muscle cells., [UniProtKB, UniProtKB, UniProtKB]; Novel polymorphisms in PDLIM3 and PDLIM5 gene encoding Z-line proteins increase risk of idiopathic dilated cardiomyopathy., [RefSeq, PubMed]; The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]., [RefSeq]; Two abnormal splicing events for actinin-associated LIM protein 3 (PDLIM3/ALP) and fibronectin 1 (FN1) in the skeletal muscles of myotonic dystrophy type 1 patients., [RefSeq, PubMed]; ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line, [RefSeq, 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, "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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R866;O43590;O60439;O60440;Q8N6Y6;Q9BVP4", "ec_number_list": [], "go_molecular_function": "GO:0051371 muscle alpha-actinin binding;GO:0003779 actin binding;GO:0046872 metal ion binding;GO:0008307 structural constituent of muscle", "go_cellular_component": "GO:0005829 cytosol;GO:0005912 adherens junction;GO:0001725 stress fiber;GO:0030018 Z disc;GO:0031941 filamentous actin", "go_biological_process": "GO:0007507 heart development;GO:0030036 actin cytoskeleton organization;GO:0061061 muscle structure development", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q53GG5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7H8-1", "uniprot_id": [ { "id": "RM10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7H8", "type": "external" } ], "mass": 29283.0, "length": 261, "protein_name": "Large ribosomal subunit protein uL10m", "gene_name": "MRPL10", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL10m isoform a precursor", "refseq_ac": [ { "id": "NP_660298", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660298", "type": "external" } ], "gene_names_uniprotkb": "MRPL10; MRPL8; RPML8", "gene_names_refseq": "L10MT; MRP-L10; MRP-L8; MRPL10; MRPL8; RPML8; uL10m", "protein_names_uniprotkb": "Large ribosomal subunit protein uL10m; 39S ribosomal protein L10, mitochondrial; 39S ribosomal protein L8, mitochondrial; L10mt; L8mt; MRP-L10; MRP-L8", "protein_names_refseq": "39S ribosomal protein L10, mitochondrial; 39S ribosomal protein L8, mitochondrial; L8mt; large ribosomal subunit protein uL10m isoform a precursor; mitochondrial large ribosomal subunit protein uL10m", "tax_id": 9606, "disease": "", "pathway": " (hsa:124995); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 37, "publication_id_list": "11237011;11543634;11551941;15358359;17803939;18429816;18782833;19524667;19716793;20068231;20186120;20877624;21907147;22172991;2250005;25233460;25278503;25838379;26443249;27029019;28892042;3129699;32157095;32387766;32938616;33091337;33141586;33243891;33878294;33968037;33981976;34357683;34509645;35177605;36302763;36596788;37141370", "class_list": "", "function": "Analyzes the RNA binding properties of orthologous bovine 39S ribosomal subunit proteins, including MRPL10., [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. Sequence analysis identified three transcript variants that encode two different isoforms. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Nov 2010]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) 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, "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": 1, "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": "A6NGJ4;Q96B80;Q96Q55", "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:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q7Z7H8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBX9-1", "uniprot_id": [ { "id": "RXFP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBX9", "type": "external" } ], "mass": 86975.0, "length": 757, "protein_name": "Relaxin receptor 1", "gene_name": "RXFP1", "organism": "Human", "refseq_name": "relaxin receptor 1 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001240657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240657", "type": "external" } ], "gene_names_uniprotkb": "RXFP1; LGR7", "gene_names_refseq": "LGR7; RXFP1; RXFPR1", "protein_names_uniprotkb": "Relaxin receptor 1; Leucine-rich repeat-containing G protein-coupled receptor 7; Relaxin family peptide receptor 1", "protein_names_refseq": "leucine-rich repeat-containing G protein-coupled receptor 7; relaxin receptor 1 isoform 3 precursor; relaxin/insulin like family peptide receptor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:59350); (R-HSA-418555); (R-HSA-444821)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10935549;11007482;11237011;11517286;11809971;12036966;12058044;12106601;12180353;12506116;12860470;13549488;14522967;14522968;14671004;1517224;15525639;15765929;15769620;15951850;16051677;16313925;16687412;16923326;16963451;17148455;17158203;17168849;18044684;18079195;18533687;18577758;19105585;19416175;19876791;19929708;20381629;21036126;2163110;24014093;2417744;24687066;2491850;2553411;2553705;26417854;2871555;29393594;29443750;29557506;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32387766;32497535;32540603;32618402;32715661;33049737;34171305;34509645;35051231;36443381;38640630;6085243;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "Capable of mediating the action of relaxin through an adenosine 3',5'-monophosphate (cAMP)-dependent pathway, [RefSeq, PubMed]; Characterization of a new potent and long-lasting single chain peptide agonist of RXFP1 in cells and in vivo translational models. Publication Status: Online-Only, [RefSeq, PubMed]; Data tested the hypothesis that relaxin plays a role in endometriosis by comparing the expression of relaxin mRNA and its LGR7 (RXFP1) receptor mRNA in normal human endometrium to those in samples from patients with endometriosis., [RefSeq, PubMed]; LGR7.10 splice variant is expressed at the cell surface, LGR7.2 is predominantly retained within cells and LGR7.1 is partially secreted. None stimulates cAMP production., [RefSeq, PubMed]; Receptor for relaxins. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. Binding of the ligand may also activate a tyrosine kinase pathway that inhibits the activity of a phosphodiesterase that degrades cAMP., [UniProtKB, UniProtKB, UniProtKB]; The consequences of manipulating relaxin family peptide receptor 1 (RXFP1) level in ovarian cancer cells., [RefSeq, PubMed]; The dominant-negative effects of the LGR7 splice variants expressed in the chorion and decidua could be functionally significant in the peripartal period., [RefSeq, PubMed]; The essential role of the LDLa module in LGR7 and LGR8 function is reported., [RefSeq, PubMed]; This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "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": 6, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DHD1;B4DTV2;Q2M215;Q3KU24;Q3KU25;Q3KU26", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0046872 metal ion binding;GO:0042562 hormone binding;GO:0008528 G protein-coupled peptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0009755 hormone-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9HBX9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WV44-1", "uniprot_id": [ { "id": "TRI41_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WV44", "type": "external" } ], "mass": 71670.0, "length": 630, "protein_name": "E3 ubiquitin-protein ligase TRIM41", "gene_name": "TRIM41", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM41 isoform 1", "refseq_ac": [ { "id": "NP_291027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_291027", "type": "external" } ], "gene_names_uniprotkb": "TRIM41; RINCK", "gene_names_refseq": "RINCK; TRIM41", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM41; 2.3.2.27; RINCK; RING finger-interacting protein with C kinase; Tripartite motif-containing protein 41", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM41 isoform 1; E3 ubiquitin-protein ligase TRIM41; RING finger-interacting protein with C kinase; RING-finger protein that interacts with C kinase; RING-type E3 ubiquitin transferase TRIM41", "tax_id": 9606, "disease": "", "pathway": " (hsa:90933); (R-HSA-983168)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "11062501;11237011;11350924;11549288;12646216;14734113;15224091;15224092;15498874;15571818;16022281;16565220;16595681;16849449;16954532;17893151;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20068231;2261476;23481700;24275569;25218447;26758079;26811146;26992070;27812135;27920218;28169297;28228285;29632046;29760876;29899090;30315122;30429286;30524438;30833945;31844290;31848261;31979016;32157095;32387766;32488085;32897882;32938616;33378676;33640899;33717175;33912179;33968037;33981976;34171305;34324862;34509645;35051231;35580925;36010968;37938771;38086852;9380723;9668046", "class_list": "", "function": "ANXA10 promotes melanoma metastasis by suppressing E3 ligase TRIM41-directed PKD1 degradation. Erratum:[Cancer Lett. 2023 Aug 10;569:216310. doi: 10.1016/j.canlet.2023.216310. PMID: 37474390], [RefSeq, PubMed]; E3 ligase that plays essential roles in innate antiviral response (PubMed:28169297, PubMed:29760876, PubMed:29899090, PubMed:31979016). Directly binds to influenza A virus or vesicular stomatitis virus nucleoproteins and targets them for ubiquitination and proteasomal degradation, thereby limiting viral infections (PubMed:28169297, PubMed:29899090, PubMed:31979016). Activates the innate antiviral response by catalyzing monoubiquitination of CGAS, thereby activating CGAS (PubMed:29760876). Also involved in innate antiviral response by mediating 'Lys-63'-linked polyubiquitylation of BCL10 which in turn hubs NEMO for activation of NF-kappa-B and IRF3 pathways (By similarity). Catalyzes the ubiquitin-mediated degradation of other substrates including protein kinase C, ZSCAN21 or TOP3B suggesting additional roles besides its function in immune response (PubMed:17893151, PubMed:33378676)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Nuclear cGAS restricts L1 retrotransposition by promoting TRIM41-mediated ORF2p ubiquitination and degradation. Publication Status: Online-Only, [RefSeq, PubMed]; Observed in the cytoplasm and the nucleus; nuclear transport is mediated by an N-terminal segment common to both alpha and beta isoforms, but independent of a classical nuclear localization signal sequence., [RefSeq, PubMed]; RINCK is an E3 ligase that specifically recognizes the C1 domain of PKC isoforms, [RefSeq, PubMed]; TRIM41 is required to innate antiviral response by polyubiquitinating BCL10 and recruiting NEMO. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the tripartite motif (TRIM) family. The TRIM family is characterized by a signature motif composed of a RING finger, one or more B-box domains, and a coiled-coil region. This encoded protein may play a role in protein kinase C signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [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": 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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KNJ6;D3DWR9;Q5BKT0;Q7L484;Q96Q10;Q9BSL8", "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:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0001650 fibrillar center", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0071222 cellular response to lipopolysaccharide;GO:0071225 cellular response to muramyl dipeptide;GO:0060340 positive regulation of type I interferon-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q8WV44-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49458-1", "uniprot_id": [ { "id": "SRP09_HUMAN", "url": "https://www.uniprot.org/uniprot/P49458", "type": "external" } ], "mass": 10112.0, "length": 86, "protein_name": "Signal recognition particle 9 kDa protein", "gene_name": "SRP9", "organism": "Human", "refseq_name": "signal recognition particle 9 kDa protein isoform 1", "refseq_ac": [ { "id": "NP_001123912", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123912", "type": "external" } ], "gene_names_uniprotkb": "SRP9", "gene_names_refseq": "ALURBP; SRP9", "protein_names_uniprotkb": "Signal recognition particle 9 kDa protein; SRP9", "protein_names_refseq": "signal recognition particle 9 kDa protein isoform 1; signal recognition particle 9 kDa protein; signal recognition particle 9kDa; signal recognition particle 9kD", "tax_id": 9606, "disease": "", "pathway": " (hsa:6726); (R-HSA-1799339)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "11089964;11237011;11964406;12042320;12853463;15104674;16469117;18166647;18455985;19608861;20305658;20444697;21740066;23301498;24714562;24715725;25576301;26154972;26992070;27846572;27862975;28467828;28510447;28832583;28904123;29242379;29493099;29557506;30192525;30315122;30429286;30484775;31092671;31217245;31611695;31844290;32157095;32161166;32265295;32350084;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34020957;34087483;34171305;34727289;34932366;35051231;35132862;35251023;35580925;36010968;36241641;36284347;37217939;37938771;38665916;38847231;7730321;9631292", "class_list": "", "function": "Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) (By similarity). SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP (PubMed:11089964). The complex of SRP9 and SRP14 is required for SRP RNA binding (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Investigation of SRP9 protein expression in breast cancer., [RefSeq, PubMed]; Significance of signal recognition particle 9 nuclear translocation: Implications for pancreatic cancer prognosis and functionality., [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": 0, "reported_mutagensis": 0, "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": "A8K0N0;Q6NVX0;Q8WTW0", "ec_number_list": [], "go_molecular_function": "GO:0005047 signal recognition particle binding;GO:0003723 RNA binding;GO:0008312 7S RNA binding", "go_cellular_component": "GO:0005785 signal recognition particle receptor complex;GO:0005786 signal recognition particle, endoplasmic reticulum targeting;GO:0005829 cytosol", "go_biological_process": "GO:0006614 SRP-dependent cotranslational protein targeting to membrane;GO:0006617 SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition;GO:0045900 negative regulation of translational elongation", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "P49458-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q60I27-1", "uniprot_id": [ { "id": "AL2CL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q60I27", "type": "external" } ], "mass": 107748.0, "length": 953, "protein_name": "ALS2 C-terminal-like protein", "gene_name": "ALS2CL", "organism": "Human", "refseq_name": "ALS2 C-terminal-like protein isoform 1", "refseq_ac": [ { "id": "NP_001177636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177636", "type": "external" } ], "gene_names_uniprotkb": "ALS2CL", "gene_names_refseq": "ALS2CL; RN49018", "protein_names_uniprotkb": "ALS2 C-terminal-like protein", "protein_names_refseq": "ALS2 C-terminal-like protein isoform 1; ALS2 C-terminal-like protein", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 2 (Disease Ontology:DOID:0060194); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:259173); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 200, "publication_id_list": "10818110;10990452;11038176;11179213;11237011;11516400;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16410077;16473597;16525024;16525121;16571673;16641372;16754960;16880209;16950109;16959974;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19656848;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20657180;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23425335;23444368;23478338;23645161;23678941;23684622;23713133;23839779;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27862975;29242379;29557506;29789417;30429286;31154438;32157095;32938616;33968037;34357683;35051231;35580925;39894887;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "ALS2CL is a novel ALS2-interacting protein implicated in ALS2-mediated endosome dynamics., [RefSeq, PubMed]; Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome dynamics., [UniProtKB, PubMed, PubMed, PubMed]; Data provide further support that ALS2CL, EPHA3, and CMYA1 are bona-fide tumor-suppressor genes and contribute to the tumorigenesis of HNSCC., [RefSeq, PubMed]; These results suggest that amyotrophic lateral sclerosis 2 C-terminal like (ALS2CL), a novel ALS2 homologue, modulates Rab5-mediated endosome dynamics in HeLa cells., [RefSeq, PubMed]; This supports the notion that de novo mutations in ALS2CL are extremely rare in schizophrenia 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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "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": "Q32MA1;Q6AI56;Q6ZNC5;Q6ZNC7;Q6ZTL4;Q86YD2;Q8N9U1;Q8NAL7", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0016197 endosomal transport", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "Q60I27-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00325-1", "uniprot_id": [ { "id": "ADH1B_HUMAN", "url": "https://www.uniprot.org/uniprot/P00325", "type": "external" } ], "mass": 39835.0, "length": 375, "protein_name": "All-trans-retinol dehydrogenase [NAD(+)] ADH1B", "gene_name": "ADH1B", "organism": "Human", "refseq_name": "all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform 1", "refseq_ac": [ { "id": "NP_000659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000659", "type": "external" } ], "gene_names_uniprotkb": "ADH1B; ADH2", "gene_names_refseq": "ADH1B; ADH2; HEL-S-117", "protein_names_uniprotkb": "All-trans-retinol dehydrogenase [NAD(+)] ADH1B; 1.1.1.105; Alcohol dehydrogenase 1B; Alcohol dehydrogenase subunit beta", "protein_names_refseq": "ADH, beta subunit; alcohol dehydrogenase 2 (class I), beta polypeptide; alcohol dehydrogenase subunit beta; aldehyde reductase; all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform 1; all-trans-retinol dehydrogenase [NAD(+)] ADH1B; epididymis secretory protein Li 117", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741)", "pathway": " (hsa:125); (R-HSA-71384)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10441588;10631996;10697413;10733556;10843999;11237011;11274460;15369820;16787387;16788062;1755855;18196;1896463;1985938;20166139;20616185;224930;24275569;2547609;2679216;270680;2935533;2935875;29632711;29786170;29789417;2986130;3000832;31848261;3278908;3365377;3397059;34019948;3619918;36284347;37938771;37985446;38085522;38331848;38465575;38838011;4065146;427099;4504607;4748759;6374651;6391920;6395883;8074657;8201622;8663387;9982", "class_list": "", "function": "ADH1B, the adipocyte-enriched alcohol dehydrogenase, plays an essential, cell-autonomous role in human adipogenesis., [RefSeq, PubMed]; Alcohol dehydrogenase-1B represses the proliferation, invasion and migration of breast cancer cells by inactivating the mitogen-activated protein kinase signalling pathway., [RefSeq, PubMed]; Association of TOP2A and ADH1B with lipid levels and prognosis in patients with lung adenocarcinoma and squamous cell carcinoma., [RefSeq, PubMed]; Associations of ADH1B and ALDH2 genotypes and alcohol flushing with drinking history, withdrawal symptoms, and ICD-10 criteria in Japanese alcohol-dependent men., [RefSeq, PubMed]; Catalyzes the NAD-dependent oxidation of all-trans-retinol and its derivatives such as all-trans-4-hydroxyretinol and may participate in retinoid metabolism (PubMed:15369820, PubMed:16787387). In vitro can also catalyze the NADH-dependent reduction of all-trans-retinal and its derivatives such as all-trans-4-oxoretinal (PubMed:15369820, PubMed:16787387). Catalyzes in the oxidative direction with higher efficiency (PubMed:16787387). Has the same affinity for all-trans-4-hydroxyretinol and all-trans-4-oxoretinal (PubMed:15369820)., [UniProtKB, PubMed, PubMed]; Interaction of genetic variation at ADH1B and MLXIPL with alcohol consumption for elevated serum urate level and gout among people of European ethnicity. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 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": 0, "reported_glycation": 0, "reported_snv": 9, "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": "A8MYN5;B4DRS9;B4DVC3;Q13711;Q4ZGI9;Q96KI7", "ec_number_list": [ { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.209", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.209", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.315", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.315", "type": "external" }, { "id": "1.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.1", "type": "external" }, { "id": "1.1.1.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.66", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0004022 alcohol dehydrogenase (NAD+) activity;GO:0008270 zinc ion binding;GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0042572 retinol metabolic process;GO:0042573 retinoic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "P00325-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75716-1", "uniprot_id": [ { "id": "STK16_HUMAN", "url": "https://www.uniprot.org/uniprot/O75716", "type": "external" } ], "mass": 34656.0, "length": 305, "protein_name": "Serine/threonine-protein kinase 16", "gene_name": "STK16", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 16 isoform 1", "refseq_ac": [ { "id": "NP_001008910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008910", "type": "external" } ], "gene_names_uniprotkb": "STK16; MPSK1; PKL12; TSF1", "gene_names_refseq": "KRCT; MPSK; PKL12; PSK; STK16; TSF1; hPSK", "protein_names_uniprotkb": "Serine/threonine-protein kinase 16; 2.7.10.2; 2.7.11.1; MPSK; Myristoylated and palmitoylated serine/threonine-protein kinase; Protein kinase PKL12; TGF-beta-stimulated factor 1; TSF-1; Tyrosine-protein kinase STK16; hPSK", "protein_names_refseq": "TGF-beta-stimulated factor 1; myristoylated and palmitoylated serine/threonine-protein kinase; protein kinase PKL12; protein kinase expressed in day 12 fetal liver; serine/threonine-protein kinase 16 isoform 1; serine/threonine-protein kinase 16; tyrosine-protein kinase STK16", "tax_id": 9606, "disease": "", "pathway": " (hsa:8576)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10364453;10947953;11237011;16310770;17344846;18184589;22424782;22544926;22564745;23481700;24715725;26992070;27846572;27920218;28063628;28228285;28904123;29242379;29393594;29493099;29632046;29786170;30315122;31574902;31844290;32357974;32387766;32897882;32938616;33141586;33298915;33592498;33936100;33968037;34171305;34211107;34357683;34509645;35092121;36241641;38622518;38723720;9712705", "class_list": "", "function": "Exosomes from M1-polarized macrophages promote apoptosis in lung adenocarcinoma via the miR-181a-5p/ETS1/STK16 axis., [RefSeq, PubMed]; Membrane-associated protein kinase that phosphorylates on serine and threonine residues. In vitro substrates include DRG1, ENO1 and EIF4EBP1. Also autophosphorylates. May be involved in secretory vesicle trafficking or intracellular signaling. May have a role in regulating stromal-epithelial interactions that occur during ductal morphogenesis in the mammary gland. May be involved in TGF-beta signaling. Able to autophosphorylate on Tyr residue; it is however unclear whether it has tyrosine-protein kinase toward other proteins., [UniProtKB, PubMed, UniProtKB, UniProtKB]; STK16 promoted colorectal cancer progress in a c-MYC signaling-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/Threonine kinase 16 phosphorylates STAT3 and confers a JAK2-Inhibition resistance phenotype in triple-negative breast cancer., [RefSeq, PubMed]; The Endogenous STK16 subcellular localization was evaluated by indirect immunofluorescence in NRK cells, demonstrating a Golgi-associated pattern that appears to be independent of signals provided by integrin pathways., [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": 6, "reported_mutagensis": 3, "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": "A8K9H9;Q5U0F8;Q96KI2;Q9BUH4;Q9UEN3;Q9UP78", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "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:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005798 Golgi-associated vesicle;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0046777 protein autophosphorylation;GO:0071560 cellular response to transforming growth factor beta stimulus", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "O75716-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WTP8-1", "uniprot_id": [ { "id": "AEN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WTP8", "type": "external" } ], "mass": 36350.0, "length": 325, "protein_name": "Apoptosis-enhancing nuclease", "gene_name": "AEN", "organism": "Human", "refseq_name": "apoptosis-enhancing nuclease", "refseq_ac": [ { "id": "NP_073604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073604", "type": "external" } ], "gene_names_uniprotkb": "AEN; ISG20L1; SBBI58", "gene_names_refseq": "AEN; ISG20L1; pp12744", "protein_names_uniprotkb": "Apoptosis-enhancing nuclease; 3.1.-.-; Interferon-stimulated 20 kDa exonuclease-like 1", "protein_names_refseq": "apoptosis-enhancing nuclease; interferon stimulated exonuclease gene 20kDa-like 1; interferon-stimulated 20 kDa exonuclease-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64782)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;16171785;18264133;20429933;23481700;24715725;25418920;25892735;26154972;26758079;26811146;26929215;27846572;27920218;28832583;28834231;28904123;29242379;29493099;29632046;31844290;32265295;32357974;32387766;32502341;32938616;33141586;33298915;33691108;33912179;34171305;35051231;36241641", "class_list": "", "function": "AEN is an important downstream mediator of p53 in apoptosis induction in cancer., [RefSeq, PubMed]; Exonuclease with activity against single- and double-stranded DNA and RNA. Mediates p53-induced apoptosis. When induced by p53 following DNA damage, digests double-stranded DNA to form single-stranded DNA and amplifies DNA damage signals, leading to enhancement of apoptosis., [UniProtKB, PubMed, PubMed]; Identification of ISG20L1 as a p53 family target and discovery that modulation of this target can regulate autophagic processes further strengthens the connection between p53 signaling and autophagy 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, "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": 3, "reported_glycation": 0, "reported_snv": 1, "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": "C9J571;Q9BSA5;Q9H9X7", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding;GO:0004527 exonuclease activity;GO:0004529 DNA exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006396 RNA processing;GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;GO:0010212 response to ionizing radiation", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8WTP8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95622-1", "uniprot_id": [ { "id": "ADCY5_HUMAN", "url": "https://www.uniprot.org/uniprot/O95622", "type": "external" } ], "mass": 138908.0, "length": 1261, "protein_name": "Adenylate cyclase type 5", "gene_name": "ADCY5", "organism": "Human", "refseq_name": "adenylate cyclase type 5 isoform 2", "refseq_ac": [ { "id": "NP_001186571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571", "type": "external" } ], "gene_names_uniprotkb": "ADCY5", "gene_names_refseq": "AC5; ADCY5; DSKOD; FDFM", "protein_names_uniprotkb": "Adenylate cyclase type 5; 4.6.1.1; AC5; ATP pyrophosphate-lyase 5; Adenylate cyclase type V; Adenylyl cyclase 5", "protein_names_refseq": "ATP pyrophosphate-lyase 5; adenylate cyclase type 5 isoform 2; adenylate cyclase type 5; adenylate cyclase type V; adenylyl cyclase 5; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); Parkinson's disease (Disease Ontology:DOID:14330); type 2 diabetes mellitus (Disease Ontology:DOID:9352); dyskinesia with orofacial involvement, autosomal recessive (MONDO:MONDO:0030625); dyskinesia with orofacial involvement, autosomal dominant (MONDO:MONDO:0800028); neurodevelopmental disorder with hyperkinetic movements and dyskinesia (MONDO:MONDO:0859211)", "pathway": " (hsa:111); (R-HSA-163359); (R-HSA-163615); (R-HSA-164378); (R-HSA-170660); (R-HSA-170670); (R-HSA-381676); (R-HSA-400042); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-432040); (R-HSA-5610787); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-9856530)", "pathway_count": 17, "publication_count": 346, "publication_id_list": "10075700;10318832;10376603;10449730;10481931;10496952;10579907;10639123;10649434;10714768;10764742;10861086;10948191;10954748;10966113;11007482;11034202;11043579;11071853;11076974;11237011;11313909;11375483;11773440;11832410;11853546;11968001;12034449;12036966;12058044;12106601;12117970;12120503;12176338;12180353;12180908;12192414;12194985;12401793;12410638;12417718;12435627;12475787;12496249;12503609;12724311;12801959;12860470;12938160;1325798;1347957;13549488;13680124;1372004;1373524;14514350;14514735;14592814;14603322;14671004;14675202;14701836;14988243;15087129;1510932;15161916;1517224;15245432;15304325;1534149;15385642;15539556;15569269;15703994;15705806;15718470;15765929;15769620;15879134;15930098;15951850;15955806;15995848;16061793;16120822;16136078;16229832;16254602;16311594;16313925;16339192;16352729;16371464;16373322;16396903;16407073;16407156;1645720;16493421;1658606;16613843;16613879;16634148;16645038;16687412;16707575;16780920;16921024;16923326;16973695;17027958;17095603;17156409;17168849;17178220;17200122;17230639;17306374;17379646;17442700;17444618;17553904;17641202;17762891;17900700;17960137;18044684;18070890;18162464;18202100;18202181;18287102;18327258;18412318;18434541;18455992;1849000;18511455;18566127;18577758;18678926;18710921;18818202;18832070;19000668;19020623;19105585;19144687;19170255;19196978;19223390;19258039;19286674;19342448;19365551;19383790;1939224;19549984;19574955;19592253;19664994;19666503;19723632;19741198;19767740;19776033;19859570;19861722;19876791;19877275;19906846;19929708;19931550;19948480;19996169;20067783;20154143;20207148;20381629;20395968;20412786;20460306;20844016;20889716;20956384;21036126;21037092;2105456;21209331;2163110;21695114;21801010;21844907;22007132;22231273;22391300;22495674;22782511;23209152;23332756;23675550;23719536;23863937;2417744;24273487;24302888;24339784;24530924;24687066;24700542;24740569;24845016;24863049;24917297;2491850;24925320;24952464;24962572;2534964;2553411;2553705;25576301;26085604;26190834;26206488;26308095;26375851;26417854;26987903;27392633;27397612;2748346;27566546;27797339;2834384;28450397;28502923;28595943;2871555;28971144;29443750;29557506;29602314;2991279;30315122;3049610;30779550;30833991;30975617;3104109;31154438;31205027;3127824;31279028;31399091;31848261;31983287;32226383;32296767;32497535;32540603;32618402;32715661;33049737;33704598;34499618;34631954;35051231;35288007;35580925;36233117;36610259;38589608;4065330;6085243;7503232;7510718;7517665;7522622;7526388;7530449;7535000;7538665;7559455;7568118;7589461;7595566;7641683;7651538;7678419;7876172;7937899;8007951;8015379;8063828;8099279;8119955;8138058;8140421;8226994;8243272;8277227;8327893;8340388;8340414;8404634;8405712;8406495;8514797;8522976;8527267;8598224;8621513;8657103;8662784;8663304;8672451;8683474;8700127;8702633;8778232;8830891;8855281;8862523;8997178;9000504;9042338;9050880;9162098;9227644;9263355;9314552;9369468;9374639;9374640;9417641;9488697;9620797;9651336;9707174;9756892;9760042;9829975;9857068;9865521;9920805", "class_list": "", "function": "Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the formation of the signaling molecule cAMP in response to G protein signaling (PubMed:15385642, PubMed:24700542, PubMed:26206488). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion (PubMed:24740569)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates signaling downstream of ADRB1. Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease., [RefSeq, PubMed]; Mutation of ADCY5 gene in patients with Meige syndrome., [RefSeq, PubMed]; Structure of adenylyl cyclase 5 in complex with Gbetagamma offers insights into ADCY5-related dyskinesia., [RefSeq, PubMed]; This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7Z8A6;Q7RTV7;Q8NFM3", "ec_number_list": [ { "id": "4.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.1", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.7.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.85", "type": "external" } ], "go_molecular_function": "GO:0004016 adenylate cyclase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0008179 adenylate cyclase binding;GO:0097110 scaffold protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0016020 membrane", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0006171 cAMP biosynthetic process;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 34.7, "record_id": "O95622-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2J4-1", "uniprot_id": [ { "id": "AMOL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2J4", "type": "external" } ], "mass": 85764.0, "length": 779, "protein_name": "Angiomotin-like protein 2", "gene_name": "AMOTL2", "organism": "Human", "refseq_name": "angiomotin-like protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001265612", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265612", "type": "external" } ], "gene_names_uniprotkb": "AMOTL2; KIAA0989", "gene_names_refseq": "AMOTL2; LCCP", "protein_names_uniprotkb": "Angiomotin-like protein 2; LCCP; Leman coiled-coil protein", "protein_names_refseq": "Leman coiled-coil protein; angiomotin-like protein 2 isoform 1; angiomotin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51421); (R-HSA-2028269)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10.1101/2023.09.13.557529;11118213;11237011;11278283;12406577;15109305;15688006;16930133;17085597;17293535;17974916;18158288;18227151;18328708;20412773;20850437;20868367;21187284;21205866;21224387;21233212;21555462;21832154;21937427;22362771;23525008;23911299;24275569;25576301;25645385;26598551;26992070;27397612;27846572;27862975;28832583;28842668;29237092;29242379;29331515;29371260;29393594;29557506;29786170;30379171;30429286;30779550;31092671;31844290;32157095;32488085;32897882;32938616;33537174;33592498;33717175;33968037;33981976;34036399;34165350;34171305;34185709;34404733;35051231;35318648;35580925;36010968;37938771;38717123;38838015;39195920;8702870;9545236", "class_list": "", "function": "AMOTL2 is as a novel activator of LATS2., [RefSeq, PubMed]; AMOTL2 mono-ubiquitination by WWP1 promotes contact inhibition by facilitating LATS activation. Publication Status: Online-Only, [RefSeq, PubMed]; AMOTL2knockdown promotes the proliferation, migration and invasion of glioma by regulating betacatenin nuclear localization., [RefSeq, PubMed]; AmotL2, IQGAP1, and FKBP51 Scaffold Proteins in Glioblastoma Stem Cell Niches. Review article, [RefSeq, PubMed]; Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]., [RefSeq]; Regulates the translocation of phosphorylated SRC to peripheral cell-matrix adhesion sites. Required for proper architecture of actin filaments. Plays a role in coupling actin fibers to cell junctions in endothelial cells and is therefore required for correct endothelial cell morphology via facilitating transcellular transmission of mechanical force resulting in endothelial cell elongation (By similarity). Required for the anchoring of radial actin fibers to CDH1 junction complexes at the cell membrane which facilitates organization of radial actin fiber structure and cellular response to contractile forces (PubMed:28842668). This contributes to maintenance of cell area, size, shape, epithelial sheet organization and trophectoderm cell properties that facilitate blastocyst zona hatching (PubMed:28842668). Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. Participates in angiogenesis. Activates the Hippo signaling pathway in response to cell contact inhibition via interaction with and ubiquitination by Crumbs complex-bound WWP1 (PubMed:34404733). Ubiquitinated AMOTL2 then interacts with LATS2 which in turn phosphorylates YAP1, excluding it from the nucleus and localizing it to the cytoplasm and tight junctions, therefore ultimately repressing YAP1-driven transcription of target genes (PubMed:17293535, PubMed:21205866, PubMed:26598551). Acts to inhibit WWTR1/TAZ transcriptional coactivator activity via sequestering WWTR1/TAZ in the cytoplasm and at tight junctions (PubMed:23911299). Regulates the size and protein composition of the podosome cortex and core at myofibril neuromuscular junctions (PubMed:23525008). Selectively promotes FGF-induced MAPK activation through SRC (PubMed:17293535). May play a role in the polarity, proliferation and migration of endothelial cells., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The VE-cadherin/AmotL2 mechanosensory pathway suppresses aortic inflammation and the formation of abdominal aortic aneurysms., [RefSeq, PubMed]; The cellular localization and oncogenic or tumor suppressive effects of angiomiotin-like protein 2 in tumor and normal cells. Review article, [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": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 25, "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": "A8K6F1;B7Z5Q1;E9PHW3;Q53EP1;Q96F99;Q9UKB4", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0030054 cell junction", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001525 angiogenesis;GO:0035329 hippo signaling;GO:0030036 actin cytoskeleton organization;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9Y2J4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15121-1", "uniprot_id": [ { "id": "ALDR_HUMAN", "url": "https://www.uniprot.org/uniprot/P15121", "type": "external" } ], "mass": 35853.0, "length": 316, "protein_name": "Aldo-keto reductase family 1 member B1", "gene_name": "AKR1B1", "organism": "Human", "refseq_name": "aldo-keto reductase family 1 member B1 isoform 1", "refseq_ac": [ { "id": "NP_001619", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001619", "type": "external" } ], "gene_names_uniprotkb": "AKR1B1; ALDR1; ALR2", "gene_names_refseq": "ADR; AKR1B1; ALDR1; ALR2; AR", "protein_names_uniprotkb": "Aldo-keto reductase family 1 member B1; 1.1.1.21; 1.1.1.300; 1.1.1.372; 1.1.1.54; AR; Aldehyde reductase; Alditol:NADP oxidoreductase; Aldose reductase", "protein_names_refseq": "Lii5-2 CTCL tumor antigen; aldehyde reductase 1; aldo-keto reductase family 1 member B1 isoform 1; aldo-keto reductase family 1 member B1; low Km aldose reductase", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); allergic disease (Disease Ontology:DOID:1205); arteriosclerosis (Disease Ontology:DOID:2349); hyperglycemia (Disease Ontology:DOID:4195); hypokalemia (Disease Ontology:DOID:4500); hepatocellular carcinoma (Disease Ontology:DOID:684); cataract (Disease Ontology:DOID:83); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetic neuropathy (Disease Ontology:DOID:9743); galactosemia (Disease Ontology:DOID:9870)", "pathway": " (hsa:231); (R-HSA-196108); (R-HSA-5652227); (R-HSA-70370)", "pathway_count": 4, "publication_count": 114, "publication_id_list": "10510318;10801319;11237011;12732097;12753898;12962626;1332968;1420136;14401390;14401391;1447221;14996095;15026423;15146478;15175331;15272156;1621098;16337231;17368668;17381426;17418233;17505104;18220710;1897530;19010934;1901857;19061876;1936586;19608861;2011574;21084309;2111143;2112546;21329680;21329684;23301498;2492527;2498333;2504709;2510130;25418920;25542846;25576301;25645385;25818881;26811146;2691249;26992070;28218747;28228285;28467828;28514659;28832583;28834231;29242379;29393594;29437277;29557506;29632046;29786170;2981667;3001071;3024157;30315122;30410026;30429286;31154438;31530632;31844290;31848261;32119511;32157095;32265295;32350084;32357974;32938616;33214551;33465208;33592498;33717175;33968037;34019948;34171305;34357683;34433824;34509645;34725712;35051231;35318648;35580925;36010968;37218221;37285280;37336288;38185272;38665916;38776924;40596516;40914422;4402695;6870831;7542884;7851421;8234324;8245005;8281941;8307574;8343525;8435445;8645003;9195951;9405046;9578606;9915832", "class_list": "glycogene", "function": "Aldose reductase gene polymorphism rs752010122 and retinopathy in type 2 diabetics., [RefSeq, PubMed]; Aldose reductase is a potential therapeutic target for neurodegeneration. Review article, [RefSeq, PubMed]; Bioinformatics Analysis Reveals the Vital Role of AKR1B1 in Immune Infiltration and Clinical Outcomes of Gastric Cancer., [RefSeq, PubMed]; Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols. Displays enzymatic activity towards endogenous metabolites such as aromatic and aliphatic aldehydes, ketones, monosaccharides, bile acids and xenobiotics substrates (PubMed:10510318, PubMed:12732097, PubMed:1332968, PubMed:21329684, PubMed:8245005, PubMed:4402695, PubMed:1936586). It catalyzes the reduction of glucose to sorbitol, the first step of the polyol pathway, an alternative route of glucose metabolism that converts glucose to fructose (PubMed:4402695, PubMed:1936586). This pathway becomes highly active under elevated glucose levels, such as during hyperglycemia (PubMed:1936586). Reduces steroids and their derivatives and prostaglandins. Displays low enzymatic activity toward all-trans-retinal, 9-cis-retinal, and 13-cis-retinal (PubMed:12732097, PubMed:19010934, PubMed:8343525). Catalyzes the reduction of diverse phospholipid aldehydes such as 1-palmitoyl-2-(5-oxovaleroyl)-sn -glycero-3-phosphoethanolamin (POVPC) and related phospholipid aldehydes that are generated from the oxydation of phosphotidylcholine and phosphatdyleethanolamides (PubMed:17381426). Plays a role in detoxifying dietary and lipid-derived unsaturated carbonyls, such as crotonaldehyde, 4-hydroxynonenal, trans-2-hexenal, trans-2,4-hexadienal and their glutathione-conjugates carbonyls (GS-carbonyls) (PubMed:21329684)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; LINC00978 regulates metabolic rewiring to promote the malignancy of glioblastoma through AKR1B1., [RefSeq, PubMed]; SMARCA5 reprograms AKR1B1-mediated fructose metabolism to control leukemogenesis., [RefSeq, PubMed]; This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 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, "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": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 415, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R8N3;Q5U031;Q6FGA4;Q6ICP2;Q9BS21;Q9UCI9", "ec_number_list": [ { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.54", "type": "external" }, { "id": "1.1.1.216", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.216", "type": "external" }, { "id": "1.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.2", "type": "external" }, { "id": "1.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.-.-", "type": "external" }, { "id": "1.1.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.19", "type": "external" }, { "id": "1.1.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.20", "type": "external" }, { "id": "1.1.1.372", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.372", "type": "external" }, { "id": "1.1.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.21", "type": "external" }, { "id": "1.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.357", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0004032 aldose reductase (NADPH) activity;GO:0001758 retinal dehydrogenase (NAD+) activity;GO:0043795 glyceraldehyde oxidoreductase activity;GO:0047939 L-glucuronate reductase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006060 sorbitol metabolic process;GO:0001523 retinoid metabolic process;GO:0005975 carbohydrate metabolic process;GO:0006700 C21-steroid hormone biosynthetic process;GO:0044597 daunorubicin metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "P15121-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51826-1", "uniprot_id": [ { "id": "AFF3_HUMAN", "url": "https://www.uniprot.org/uniprot/P51826", "type": "external" } ], "mass": 133503.0, "length": 1226, "protein_name": "AF4/FMR2 family member 3", "gene_name": "AFF3", "organism": "Human", "refseq_name": "AF4/FMR2 family member 3 isoform 2", "refseq_ac": [ { "id": "NP_001020279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020279", "type": "external" } ], "gene_names_uniprotkb": "AFF3; LAF4", "gene_names_refseq": "AFF3; KINS; LAF4; MLLT2-like", "protein_names_uniprotkb": "AF4/FMR2 family member 3; Lymphoid nuclear protein related to AF4; Protein LAF-4", "protein_names_refseq": "AF4/FMR2 family member 3 isoform 2; AF4/FMR2 family member 3; MLLT2-related protein; lymphoid nuclear protein 4; lymphoid nuclear protein related to AF4; protein LAF-4", "tax_id": 9606, "disease": "KINSSHIP syndrome (Disease Ontology:DOID:0112383); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:3899)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;12203795;12743608;15704140;18669648;19369195;25418920;27600516;27920218;28397838;28832583;29393594;29508533;29557506;29632711;30192525;30315122;30379171;30429286;31154438;31388108;31530632;31844290;32157095;32357974;32502341;32574038;32983136;33298915;33691108;33912179;33961779;33968037;33981976;34171305;34846842;35051231;36273379;36576140;38478171;38811945;38886730;40307207;8555498", "class_list": "", "function": "A novel variant in AFF3 underlying isolated syndactyly., [RefSeq, PubMed]; Integrated mendelian randomization analyses highlight AFF3 as a novel eQTL-mediated susceptibility gene in renal cancer and its potential mechanisms. Publication Status: Online-Only, [RefSeq, PubMed]; LAF-4 may be a proto-oncogene that is transcriptionally activated in some cases of breast cancer., [RefSeq, PubMed]; Loss of AR-regulated AFF3 contributes to prostate cancer progression and reduces ferroptosis sensitivity by downregulating ACSL4 based on single-cell sequencing analysis., [RefSeq, PubMed]; Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA., [UniProtKB]; The LAF4 gene mapped on chromosome region 2q11.2-q12 has been identified as a fusion partner of the MLL gene in a case of infant acute lymphoblastic leukemia., [RefSeq, PubMed]; This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; This gene is fused to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23)., [RefSeq, PubMed]; Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants., [RefSeq, PubMed]; Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Publication Status: Online-Only, [RefSeq, 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, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B7ZM46;B9EGL9;D3DVI6;Q53RD6;Q53S47;Q53SI6;Q53TB9;Q59F27;Q8IWJ5", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0003690 double-stranded DNA binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0032783 super elongation complex", "go_biological_process": "GO:0034612 response to tumor necrosis factor;GO:0006355 regulation of DNA-templated transcription;GO:0050877 nervous system process;GO:0035116 embryonic hindlimb morphogenesis;GO:0006354 DNA-templated transcription elongation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P51826-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXJ7-1", "uniprot_id": [ { "id": "AMNLS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXJ7", "type": "external" } ], "mass": 47754.0, "length": 453, "protein_name": "Protein amnionless", "gene_name": "AMN", "organism": "Human", "refseq_name": "protein amnionless isoform 1 precursor", "refseq_ac": [ { "id": "NP_112205", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112205", "type": "external" } ], "gene_names_uniprotkb": "AMN; PRO1028", "gene_names_refseq": "AMN; IGS2; PRO1028; amnionless", "protein_names_uniprotkb": "Protein amnionless", "protein_names_refseq": "amnionless homolog; protein amnionless isoform 1 precursor; protein amnionless; visceral endoderm-specific type 1 transmembrane protein", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); megaloblastic anemia (Disease Ontology:DOID:13382); kidney disease (Disease Ontology:DOID:557); Imerslund-Grasbeck syndrome type 2 (MONDO:MONDO:0100157)", "pathway": " (hsa:81693); (R-HSA-3359462); (R-HSA-3359463); (R-HSA-8964011); (R-HSA-9758881)", "pathway_count": 5, "publication_count": 44, "publication_id_list": "10080186;10371504;10887099;11237011;11279523;11284697;11561168;12590260;12788804;12975309;13828999;13852753;14576052;17652309;17954916;17990953;19136951;20237569;22547309;22631584;22900303;22922874;22929189;26040326;26992070;27456980;28218747;29242379;29402915;29557506;30523278;30524438;30777892;31154438;31848261;32045704;32502341;32897882;33845046;35051231;35580925;36010968;4001945;9211901", "class_list": "", "function": "Data indicate the crystal structure of amnionless (AMN) in complex with the amino-terminal region of intrinsic factor-cobalamin receptor (cubilin). Publication Status: Online-Only, [RefSeq, PubMed]; Heterozygous mutations in AMN in a family from the United Kingdom with clinical features of Imerslund-Grasbeck Syndrome Publication Status: Online-Only, [RefSeq, PubMed]; Homozygous mutations affecting exons 1-4 of human AMN lead to megaloblastic anemia 1, [RefSeq, PubMed]; Imerslund-Grasbeck Syndrome presenting with microangiopathic hemolytic anemia in a child., [RefSeq, PubMed]; Membrane-bound component of the endocytic receptor formed by AMN and CUBN (PubMed:14576052, PubMed:29402915, PubMed:30523278). Required for normal CUBN glycosylation and trafficking to the cell surface (PubMed:14576052, PubMed:29402915). The complex formed by AMN and CUBN is required for efficient absorption of vitamin B12 (PubMed:12590260, PubMed:14576052, PubMed:26040326). Required for normal CUBN-mediated protein transport in the kidney (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Our genetic screening of 154 families of patients with inherited cobalamin malabsorption revealed population-specific mutations, mutational hotspots, and functionally distinct regions in the three causal genes: CUBN, AMN, and GIF. Publication Status: Online-Only, [RefSeq, PubMed]; Study shows that cubilin mutations (novel and some previously reported) and all previously reported amnionless missense mutations resulted in endoplasmic reticulum retention and completely inhibited amnionless-dependent plasma membrane expression of cubilin. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6UX83", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0038024 cargo receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0016020 membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0097017 renal protein absorption;GO:0006898 receptor-mediated endocytosis;GO:0009235 cobalamin metabolic process;GO:0008104 intracellular protein localization;GO:0015889 cobalamin transport", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9BXJ7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZ19-1", "uniprot_id": [ { "id": "ANR60_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZ19", "type": "external" } ], "mass": 37630.0, "length": 345, "protein_name": "Ankyrin repeat domain-containing protein 60", "gene_name": "ANKRD60", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 60", "refseq_ac": [ { "id": "NP_001291298", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291298", "type": "external" } ], "gene_names_uniprotkb": "ANKRD60; C20orf86", "gene_names_refseq": "ANKRD60; C20orf86; bA196N14.3", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 60", "protein_names_refseq": "ankyrin repeat domain-containing protein 60", "tax_id": 9606, "disease": "", "pathway": " (hsa:140731)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "19893584;19913121;20628086;25576336", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [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]", "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": 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": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4VXE6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9BZ19-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6X2-1", "uniprot_id": [ { "id": "ANTR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6X2", "type": "external" } ], "mass": 62789.0, "length": 564, "protein_name": "Anthrax toxin receptor 1", "gene_name": "ANTXR1", "organism": "Human", "refseq_name": "anthrax toxin receptor 1 isoform 3 precursor", "refseq_ac": [ { "id": "NP_060623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060623", "type": "external" } ], "gene_names_uniprotkb": "ANTXR1; ATR; TEM8", "gene_names_refseq": "ANTXR1; ATR; GAPO; TEM8", "protein_names_uniprotkb": "Anthrax toxin receptor 1; Tumor endothelial marker 8", "protein_names_refseq": "2310008J16Rik; 2810405N18Rik; anthrax toxin receptor 1 isoform 3 precursor; anthrax toxin receptor 1; tumor endothelial marker 8", "tax_id": 9606, "disease": "triple-receptor negative breast cancer (Disease Ontology:DOID:0060081); colorectal carcinoma (Disease Ontology:DOID:0080199); GAPO syndrome (Disease Ontology:DOID:0112249); breast cancer (Disease Ontology:DOID:1612); gallbladder carcinoma (Disease Ontology:DOID:4948); colorectal cancer (Disease Ontology:DOID:9256); capillary infantile hemangioma (MONDO:MONDO:0011191)", "pathway": " (hsa:84168)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "10.1101/2023.09.13.557529;10947988;11237011;11700562;12700348;14759258;15777794;16762926;17081983;18083107;18452278;18931684;19349973;19415658;19651622;20068231;20585457;22912819;23090970;23602711;24190977;25576301;25645385;26758079;27846572;29557506;29786170;30241478;30429286;30779550;31020640;31154438;31530632;31848261;32157095;32161166;32350084;32387766;32488085;32938616;33592498;33924774;33968037;33981976;34087483;34509645;35051231;35251023;35318648;35561310;36010968;36065334;36215666;36284347;36748830;37974357;38653789;38691016;41018975", "class_list": "", "function": "(Microbial infection) Acts as a receptor for protective antigen (PA) of B.anthracis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; (Microbial infection) Mediates cell entry of Seneca Valley virus (SVV) when glycosylated., [UniProtKB, PubMed]; ANTXR1 Regulates Erythroid Cell Proliferation and Differentiation through wnt/beta-Catenin Signaling Pathway In Vitro and in Hematopoietic Stem Cell. Publication Status: Online-Only, [RefSeq, PubMed]; ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Depleting ANTXR1 suppresses glioma growth via deactivating PI3K/AKT pathway., [RefSeq, PubMed]; GAPO syndrome: a novel variant in ANTXR1 gene., [RefSeq, PubMed]; Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton and thereby plays an important role in normal extracellular matrix (ECM) homeostasis. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells. May also act as a receptor for PLAU. Upon ligand binding, stimulates the phosphorylation of EGFR and ERK1/2 (PubMed:30241478)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]., [RefSeq]; Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings., [RefSeq, 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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 7, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K7U8;J7K7G4;J7KF88;Q4ZFV6;Q53QD8;Q96P02;Q9NVP3", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0046872 metal ion binding;GO:0051015 actin filament binding;GO:0005518 collagen binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane;GO:0010008 endosome membrane;GO:0031258 lamellipodium membrane", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0034446 substrate adhesion-dependent cell spreading;GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9H6X2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HDC9-1", "uniprot_id": [ { "id": "APMAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HDC9", "type": "external" } ], "mass": 46480.0, "length": 416, "protein_name": "Adipocyte plasma membrane-associated protein", "gene_name": "APMAP", "organism": "Human", "refseq_name": "adipocyte plasma membrane-associated protein", "refseq_ac": [ { "id": "NP_065392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065392", "type": "external" } ], "gene_names_uniprotkb": "APMAP; C20orf3; PRO4305", "gene_names_refseq": "APMAP; BSCv; C20orf3", "protein_names_uniprotkb": "Adipocyte plasma membrane-associated protein; Protein BSCv", "protein_names_refseq": "adipocyte plasma membrane-associated protein; protein BSCv", "tax_id": 9606, "disease": "", "pathway": " (hsa:57136)", "pathway_count": 1, "publication_count": 103, "publication_id_list": "37639587;10.1101/2023.09.13.557529;10945474;11237011;12754519;12975309;16335952;18513186;19159218;22661428;23090970;23186163;23481700;24190977;24275569;24715725;24721674;25418920;25576301;25628020;25645385;25880248;25892735;26154972;26992070;27452731;27600516;27846572;27920218;28228285;28559441;28657654;28832583;28834231;28904123;29242379;29391424;29393594;29493099;29508533;29557506;29632711;29671580;29741879;29769354;29786170;30059200;30315122;30620550;30779550;30833945;31154438;31217245;31356650;31530632;31611695;31844290;31848261;32119511;32157095;32161166;32357974;32488085;32502341;32838939;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34497417;34725712;34846842;35051231;35254053;35289036;35561310;35580925;35705054;36010968;36241641;36284347;37074911;37217939;37340703;38665916;39531497;40307207;40596516;40914422", "class_list": "", "function": "Adipocyte Plasma Membrane Protein (APMAP) promotes JC Virus (JCPyV) infection in human glial cells., [RefSeq, PubMed]; Exhibits strong arylesterase activity with beta-naphthyl acetate and phenyl acetate. May play a role in adipocyte differentiation., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Inter-cellular CRISPR screens reveal regulators of cancer cell phagocytosis., [RefSeq, PubMed]; Results suggest that APMAP functions as a modulator promoting human cytomegalovirus (HCMV) infection in multiple cell types and is an important player in the complex HCMV infection mechanism Publication Status: Online-Only, [RefSeq, PubMed]; These data suggest that APMAP is a novel regulator of extracellular matrix components, and establish that APMAP is a potential target to mitigate obesity-associated insulin resistance., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 63, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K514;B4DXG1;Q6UVZ8;Q9GZS8;Q9NUB2", "ec_number_list": [], "go_molecular_function": "GO:0004064 arylesterase activity", "go_cellular_component": "GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "Q9HDC9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP58-1", "uniprot_id": [ { "id": "ABCB6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP58", "type": "external" } ], "mass": 93886.0, "length": 842, "protein_name": "ATP-binding cassette sub-family B member 6", "gene_name": "ABCB6", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family B member 6 isoform 1", "refseq_ac": [ { "id": "NP_005680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005680", "type": "external" } ], "gene_names_uniprotkb": "ABCB6; MTABC3; PRP; UMAT", "gene_names_refseq": "ABCB6; ABC; LAN; MTABC3; PRP; umat", "protein_names_uniprotkb": "ATP-binding cassette sub-family B member 6; 7.6.2.5; ABC-type heme transporter ABCB6; Mitochondrial ABC transporter 3; Mt-ABC transporter 3; P-glycoprotein-related protein; Ubiquitously-expressed mammalian ABC half transporter", "protein_names_refseq": "ABC-type heme transporter ABCB6; ATP binding cassette subfamily B member 6 (Langereis blood group); ATP-binding cassette half-transporter; ATP-binding cassette sub-family B member 6 isoform 1; ATP-binding cassette sub-family B member 6; ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group); P-glycoprotein-related protein; mitochondrial ABC transporter 3; mt-ABC transporter 3; ubiquitously-expressed mammalian ABC half transporter", "tax_id": 9606, "disease": "dyschromatosis universalis hereditaria (Disease Ontology:DOID:0060304); familial pseudohyperkalemia (MONDO:MONDO:0012204); microphthalmia, isolated, with coloboma 7 (MONDO:MONDO:0013783); obsolete blood group, langereis system (MONDO:MONDO:0020619)", "pathway": " (hsa:10058); (R-HSA-1369007); (R-HSA-5683371)", "pathway_count": 3, "publication_count": 92, "publication_id_list": "10196363;10837493;10922475;11237011;11955620;11977179;12892562;15215243;15225610;16791740;16959974;17006453;17661442;18279659;20068231;20112406;20823549;21199866;21266531;22226084;22246506;22655043;23180570;23481700;23519333;23792964;24224009;24498303;24947683;25202056;25288164;25418920;25502872;25627919;25880248;26811146;26929215;27507172;27600516;27846572;28228285;28467828;28514659;28649982;28832583;28904123;29242379;29314611;29393594;29557506;29632046;29940187;30315122;30410026;30484775;30626607;31053883;31154438;31324691;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32938616;32983136;33007128;33298915;33392160;33592498;33633747;33912179;34087483;34357683;34433824;34509645;35051231;35083852;35154160;35251023;35461746;36010968;36241641;37500176;37735522;37938771;38354999;38822018;9878413;9883897", "class_list": "", "function": "ABCB6 knockdown suppresses melanogenesis through the GSK3-beta/beta-catenin signaling axis in human melanoma and melanocyte cell lines., [RefSeq, PubMed]; ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen (PubMed:17661442, PubMed:23792964, PubMed:27507172, PubMed:33007128). May also function as an ATP-dependent importer of porphyrins from the cytoplasm into the mitochondria, in turn may participate in the de novo heme biosynthesis regulation and in the coordination of heme and iron homeostasis during phenylhydrazine stress (PubMed:10837493, PubMed:17006453, PubMed:23792964, PubMed:33007128). May also play a key role in the early steps of melanogenesis producing PMEL amyloid fibrils (PubMed:29940187). In vitro, it confers to cells a resistance to toxic metal such as arsenic and cadmium and against chemotherapeutics agent such as 5-fluorouracil, SN-38 and vincristin (PubMed:21266531, PubMed:25202056, PubMed:31053883). In addition may play a role in the transition metal homeostasis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Association of UBE2L6 and ABCB6 Expression With Platinum Resistance in Serous Ovarian Carcinoma., [RefSeq, PubMed]; Cryo-EM structure of cadmium-bound human ABCB6. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of novel genetic variations in ABCB6 and GRN genes associated with HIV-associated lipodystrophy., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]., [RefSeq]; W546 stacking disruption traps the human porphyrin transporter ABCB6 in an outward-facing transient state. Publication Status: Online-Only, [RefSeq, 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": 1, "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": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O75542;Q49A66;Q59GQ5;Q6ZME6;Q96ME8;Q9HAQ6;Q9HAQ7", "ec_number_list": [ { "id": "7.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.5", "type": "external" }, { "id": "7.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.2", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0015439 ABC-type heme transporter activity;GO:0015562 efflux transmembrane transporter activity;GO:0020037 heme binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005739 mitochondrion;GO:0005740 mitochondrial envelope;GO:0005741 mitochondrial outer membrane;GO:0005768 endosome", "go_biological_process": "GO:1903232 melanosome assembly;GO:0006878 intracellular copper ion homeostasis;GO:0055085 transmembrane transport;GO:0006879 intracellular iron ion homeostasis;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9NP58-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ90-4", "uniprot_id": [ { "id": "ANO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ90", "type": "external" } ], "mass": 113356.0, "length": 998, "protein_name": "Anoctamin-2", "gene_name": "ANO2", "organism": "Human", "refseq_name": "anoctamin-2 isoform 1", "refseq_ac": [ { "id": "NP_001265525", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265525", "type": "external" } ], "gene_names_uniprotkb": "ANO2; C12orf3; TMEM16B", "gene_names_refseq": "ANO2; C12orf3; TMEM16B", "protein_names_uniprotkb": "Anoctamin-2; Transmembrane protein 16B", "protein_names_refseq": "anoctamin 2, calcium activated chloride channel; anoctamin-2 isoform 1; transmembrane protein 16B (eight membrane-spanning domains)", "tax_id": 9606, "disease": "", "pathway": " (hsa:57101); (R-HSA-2672351); (R-HSA-381753); (R-HSA-9733458)", "pathway_count": 4, "publication_count": 134, "publication_id_list": "10460249;10564087;10642508;10720933;10767424;10830164;10831588;11182090;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12739008;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15598656;15916532;15919655;16219661;16813530;16849430;16850186;17371490;17381423;17448995;17601748;17699613;17873857;17881003;17973576;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19474308;19581598;19620632;19808995;19953639;20056604;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23616951;24316890;2536303;25784876;25977809;26359375;26373539;26562072;27916747;27916748;28046119;28071645;28154142;28656349;28790369;29235485;31040214;31375628;31844290;32125455;32362314;32512386;32532959;32703818;32721790;32942285;33051876;33310888;33493182;33494095;33581114;33651839;33827113;33890572;34213849;34504087;34528721;34561887;34613786;34732583;34929169;35051231;35343766;38253038;38825009;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "A hypothesis where immune reactivity toward EBNA1 through molecular mimicry with ANO2 contributes to the etiopathogenesis of Multiple sclerosis., [RefSeq, PubMed]; ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]., [RefSeq]; Anoctamin 2-chloride channels reduce simple spike activity and mediate inhibition at elevated calcium concentration in cerebellar Purkinje cells. Publication Status: Online-Only, [RefSeq, PubMed]; C12orf3, FLJ10261 (ORAOV2), C11orf25 and FLJ34272 constitute a family of eight-transmembrane proteins with N- and C-terminal tails facing the cytoplasm., [RefSeq, PubMed]; Calcium-activated chloride channel (CaCC) which may play a role in olfactory signal transduction. Odorant molecules bind to odor-sensing receptors (OSRs), leading to an increase in calcium entry that activates CaCC current which amplifies the depolarization of the OSR cells, ANO2 seems to be the underlying chloride channel involved in this process. May mediate light perception amplification in retina., [UniProtKB, PubMed, PubMed]; Modulation of TMEM16B channel activity by the calcium-activated chloride channel regulator 4 (CLCA4) in human cells., [RefSeq, PubMed]; Residues facing the putative channel pore are responsible both for controlling the ion selectivity and the gating of the channel, providing an initial understanding of molecular mechanism of ion permeation in TMEM16B Publication Status: Online-Only, [RefSeq, PubMed]; This study suggested that TMEM16B to be a strong candidate for the long sought-after Ca(2+)-dependent chloride channel in the photoreceptor synapse., [RefSeq, PubMed]; VWF and TMEM16B deletions may have a role in severe von Willebrand disease type 3, [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "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": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A0A804HIY3;C4N787;Q9H847", "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:0046983 protein dimerization activity;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:0034220 monoatomic ion transmembrane transport;GO:1902476 chloride transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "Q9NQ90-4", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR22-1", "uniprot_id": [ { "id": "ANM8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR22", "type": "external" } ], "mass": 45291.0, "length": 394, "protein_name": "Protein arginine N-methyltransferase 8", "gene_name": "PRMT8", "organism": "Human", "refseq_name": "protein arginine N-methyltransferase 8 isoform 2", "refseq_ac": [ { "id": "NP_001243465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243465", "type": "external" } ], "gene_names_uniprotkb": "PRMT8; HRMT1L3; HRMT1L4", "gene_names_refseq": "HRMT1L3; HRMT1L4; PRMT8", "protein_names_uniprotkb": "Protein arginine N-methyltransferase 8; 2.1.1.319; Heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 4", "protein_names_refseq": "HMT1 hnRNP methyltransferase-like 3; arginine methyltransferase 8; heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 4; protein arginine N-methyltransferase 4; protein arginine N-methyltransferase 8 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56341)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "14978097;16051612;17925405;18320585;18698489;20068231;23481700;23783831;25469497;25576301;26529540;26876602;27920218;28228285;28514659;28543863;28832583;28834231;29242379;29331515;29769354;30315122;30379171;30429286;30524438;31530632;33717175;35051231;37938771;39894887;40136647", "class_list": "", "function": "Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008]., [RefSeq]; EWS is a substrate for PRMT8, as efficient as for PRMT1, [RefSeq, PubMed]; PRMT8 N-terminal domain may function as an autoregulator that may be displaced by interaction with one or more physiological inducers., [RefSeq, PubMed]; PRMT8 in human embryonic stem cells plays an important role not only in maintaining pluripotency but also in controlling mesodermal differentiation., [RefSeq, PubMed]; PRMT8 is an active arginine methyltransferase that is membrane-associated and tissue-specific, [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent and membrane-associated arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and asymmetrical dimethylarginine (aDMA) in proteins such as NIFK, myelin basic protein, histone H4, H2A and H2A/H2B dimer (PubMed:16051612, PubMed:17925405, PubMed:26529540, PubMed:26876602). Able to mono- and dimethylate EWS protein; however its precise role toward EWS remains unclear as it still interacts with fully methylated EWS (PubMed:18320585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The interaction between PRMT8 and the EWS protein was charcterized., [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": 7, "reported_glycation": 0, "reported_snv": 15, "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": "B2RDP0;Q8TBJ8", "ec_number_list": [ { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "id": "2.1.1.321", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.321", "type": "external" } ], "go_molecular_function": "GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0035242 protein-arginine omega-N asymmetric methyltransferase activity;GO:0042054 histone methyltransferase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0051260 protein homooligomerization;GO:0006355 regulation of DNA-templated transcription;GO:0006479 protein methylation;GO:0018216 peptidyl-arginine methylation", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9NR22-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHK6-1", "uniprot_id": [ { "id": "AMACR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHK6", "type": "external" } ], "mass": 42387.0, "length": 382, "protein_name": "Alpha-methylacyl-CoA racemase", "gene_name": "AMACR", "organism": "Human", "refseq_name": "alpha-methylacyl-CoA racemase isoform 3", "refseq_ac": [ { "id": "NP_001161067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161067", "type": "external" } ], "gene_names_uniprotkb": "AMACR", "gene_names_refseq": "AMACRD; AMACR; CBAS4; P504S; RACE; RM", "protein_names_uniprotkb": "Alpha-methylacyl-CoA racemase; 2-methylacyl-CoA racemase; 5.1.99.4", "protein_names_refseq": "2-methylacyl-CoA racemase; alpha-methylacyl-CoA racemase isoform 3", "tax_id": 9606, "disease": "alpha-methylacyl-CoA racemase deficiency (Disease Ontology:DOID:0060602); congenital bile acid synthesis defect 4 (Disease Ontology:DOID:0111068); urinary bladder cancer (Disease Ontology:DOID:11054); breast carcinoma (Disease Ontology:DOID:3459); renal cell carcinoma (Disease Ontology:DOID:4450); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:23600); (R-HSA-193368); (R-HSA-193775); (R-HSA-389887); (R-HSA-9033241)", "pathway_count": 5, "publication_count": 132, "publication_id_list": "10022913;10051404;10092594;10377398;10479480;10486279;10562279;10655068;10673331;10748047;10749848;11060344;11060359;11067870;11101887;11158055;11237011;11546814;11673457;11781871;11926890;11931631;11980911;12456682;12512044;12559034;12562770;12578380;12679481;12717447;12885776;1400444;14640697;15060085;15099582;15371879;15545321;15599942;15858711;15880524;16385454;16756494;16854980;17007944;1708392;17726030;18080842;18359941;18712838;19197237;19208625;19584060;19632994;20003233;20178365;2019602;21554508;21976670;21980954;22002062;22057399;22371489;22747494;2351134;2384150;23963456;24235149;24714562;24715725;24865970;25016021;25538232;25773837;25854684;25892735;26086376;26138649;26220973;26344566;27597759;27846572;27920218;28228285;28521612;28611990;28765278;28787099;28832583;28904123;29242379;29557506;29789417;31020640;31530632;31844290;31848261;32157095;32161166;32502341;32938616;33298915;33392160;33592498;33717175;33912179;33968037;34087483;36010968;36241641;36577560;38579443;7508385;7649182;7719337;7790377;8034703;8387517;8824437;8858165;8902629;8943006;8991089;9089413;9090381;9090382;9090383;9271077;9539740;9653144;9660774;9668159;9837948", "class_list": "", "function": "AMACR Expression is a Potential Diagnostic Marker in Apocrine Lesions of Breast, and is Associated with High Histologic Grade and Lymph Node Metastases in Some Invasive Apocrine Breast Cancers., [RefSeq, PubMed]; AMACR was shown to be overexpressed in prostate cancer, [RefSeq, PubMed]; Alpha-methyl CoA racemase (AMACR) reactivity across the spectrum of clear cell renal cell neoplasms., [RefSeq, PubMed]; Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters. Acts only on coenzyme A thioesters, not on free fatty acids, and accepts as substrates a wide range of alpha-methylacyl-CoAs, including pristanoyl-CoA, trihydroxycoprostanoyl-CoA (an intermediate in bile acid synthesis), and arylpropionic acids like the anti-inflammatory drug ibuprofen (2-(4-isobutylphenyl)propionic acid) but neither 3-methyl-branched nor linear-chain acyl-CoAs., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Promoter function of AMACR is independent of androgen receptor-mediated signaling, [RefSeq, PubMed]; This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]., [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": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "risk", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A5YM47;B8Y916;B8Y918;F8W9N1;O43673;Q3KT79;Q96GH1;Q9Y3Q1", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "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": "2.3.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.42", "type": "external" }, { "id": "1.3.3.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.3.6", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "3.4.24.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.56", "type": "external" }, { "id": "1.4.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.3", "type": "external" }, { "id": "2.6.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.51", "type": "external" }, { "id": "2.6.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.44", "type": "external" }, { "id": "2.3.1.176", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.176", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "4.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.4", "type": "external" }, { "id": "2.3.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.137", "type": "external" }, { "id": "2.3.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.7", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.3.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.65", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.5.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.13", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.4.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.1", "type": "external" }, { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.3.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.38", "type": "external" }, { "id": "1.3.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.124", "type": "external" }, { "id": "1.1.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.3.15", "type": "external" }, { "id": "1.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.1", "type": "external" }, { "id": "1.5.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.7", "type": "external" }, { "id": "5.1.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.99.4", "type": "external" }, { "id": "4.1.2.63", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.63", "type": "external" }, { "id": "1.2.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.3.5", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" } ], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008111 alpha-methylacyl-CoA racemase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006699 bile acid biosynthetic process;GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase;GO:0008206 bile acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9UHK6-1", "record_type": "protein", "filter_code": "0000100.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJX6-1", "uniprot_id": [ { "id": "ANC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJX6", "type": "external" } ], "mass": 93828.0, "length": 822, "protein_name": "Anaphase-promoting complex subunit 2", "gene_name": "ANAPC2", "organism": "Human", "refseq_name": "anaphase-promoting complex subunit 2", "refseq_ac": [ { "id": "NP_037498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037498", "type": "external" } ], "gene_names_uniprotkb": "ANAPC2; APC2; KIAA1406", "gene_names_refseq": "ANAPC2; APC2", "protein_names_uniprotkb": "Anaphase-promoting complex subunit 2; APC2; Cyclosome subunit 2", "protein_names_refseq": "anaphase-promoting complex subunit 2; cyclosome subunit 2", "tax_id": 9606, "disease": "aplastic anemia (Disease Ontology:DOID:12449); primary angle-closure glaucoma (Disease Ontology:DOID:1405); lung adenocarcinoma (Disease Ontology:DOID:3910); lung adenoma (Disease Ontology:DOID:5386); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:29882); (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": 207, "publication_id_list": "10201372;10318916;10339564;10411507;10432220;10548110;10679238;10733526;10793135;10884341;10995389;11046155;11062501;11081627;11114305;11125146;11248027;11285280;11340163;11350924;11371342;11509732;11535616;11562349;11598127;11739784;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;16595681;16626623;16648845;16824194;16849449;16954532;16964243;17187060;17234884;17322306;17485488;18267069;18411265;18452278;18485873;18555777;18555778;18662542;18669648;18691976;19007248;19028597;19352404;19413330;19452197;19489725;19664994;19664995;19690332;19691289;19805069;19851334;19874575;19896182;19940261;20028861;20351173;20452968;21325273;21670496;2183031;21979375;22084091;22178396;22424782;2261476;22634325;22645359;22885700;23186163;23481700;23603117;23846687;23851460;2405250;24366607;24706756;24714562;24715725;25043029;25231993;25418920;25505266;25576301;25645385;26083744;26154972;26222030;26375851;26728094;26758079;26811146;26992070;27120157;27249176;27259151;27509861;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28860189;28904123;29033132;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30779550;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34595750;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36241641;36284347;37938771;40914422;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9380723;9469815;9635433;9668046;9892021", "class_list": "", "function": "A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008]., [RefSeq]; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through the cell cycle (PubMed:11739784, PubMed:18485873, PubMed:27120157, PubMed:27509861). Together with the RING-H2 protein ANAPC11, forms the catalytic component of the E3 ubiquitin ligase complex (PubMed:11739784, 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:11739784, 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). The CDC20-APC/C complex positively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons (By similarity). CDC20-APC/C-induced degradation of NEUROD2 drives presynaptic differentiation (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, 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": 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": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5VSG1;Q96DG5;Q96GG4;Q9P2E1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005680 anaphase-promoting complex", "go_biological_process": "GO:0007399 nervous system development;GO:0010629 negative regulation of gene expression;GO:0030154 cell differentiation;GO:0051301 cell division;GO:0007346 regulation of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 21.0, "record_id": "Q9UJX6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKA4-1", "uniprot_id": [ { "id": "AKA11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKA4", "type": "external" } ], "mass": 210512.0, "length": 1901, "protein_name": "A-kinase anchor protein 11", "gene_name": "AKAP11", "organism": "Human", "refseq_name": "A-kinase anchor protein 11", "refseq_ac": [ { "id": "NP_057332", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057332", "type": "external" } ], "gene_names_uniprotkb": "AKAP11; AKAP220; KIAA0629", "gene_names_refseq": "AKAP-11; AKAP11; AKAP220; PPP1R44; PRKA11", "protein_names_uniprotkb": "A-kinase anchor protein 11; A-kinase anchor protein 220 kDa; AKAP 220; AKAP-11; PRKA11; Protein kinase A-anchoring protein 11; hAKAP220", "protein_names_refseq": "A kinase (PRKA) anchor protein 11; A-kinase anchor protein 11; A-kinase anchor protein 220 kDa; A-kinase anchoring protein, 220kDa; a kinase anchor protein 220 kDa; protein kinase A anchoring protein 11; protein phosphatase 1, regulatory subunit 44", "tax_id": 9606, "disease": "", "pathway": " (hsa:11215)", "pathway_count": 1, "publication_count": 100, "publication_id_list": "10864471;15592455;17081983;18669648;18691976;19369195;19651622;19664994;19664995;19690332;21406692;22424782;22544926;23186163;23301498;23481700;24366607;24714562;24715725;25418920;25576301;25645385;25802875;25880248;25892735;26088133;26154972;26375851;26728094;26929215;26992070;28228285;28657654;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29557506;29741879;29769354;29789417;30013441;30315122;30410026;30429286;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33785595;33912179;33936100;33968037;33981976;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35154160;35251023;35410376;35494241;35561310;35580925;36010968;36215666;36241641;36284347;38665916;39531497", "class_list": "", "function": "AKAP11 gene (rs9533090) influences QUS trait in a population of Caucasian young adults. The rs9533090 SNP may be considered a factor affecting peak bone mass acquisition. Publication Status: Online-Only, [RefSeq, PubMed]; Binds to type II regulatory subunits of protein kinase A and anchors/targets them., [UniProtKB]; Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia., [RefSeq, PubMed]; Selective autophagy of AKAP11 activates cAMP/PKA to fuel mitochondrial metabolism and tumor cell growth., [RefSeq, PubMed]; The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]., [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": 1, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 28, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 81, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "O75124;Q9NUK7", "ec_number_list": [], "go_molecular_function": "GO:0034237 protein kinase A regulatory subunit binding;GO:0008157 protein phosphatase 1 binding;GO:0051018 protein kinase A binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0007178 cell surface receptor protein serine/threonine kinase signaling pathway;GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q9UKA4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULJ7-1", "uniprot_id": [ { "id": "ANR50_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULJ7", "type": "external" } ], "mass": 155859.0, "length": 1429, "protein_name": "Ankyrin repeat domain-containing protein 50", "gene_name": "ANKRD50", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 50 isoform 2", "refseq_ac": [ { "id": "NP_001161354", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161354", "type": "external" } ], "gene_names_uniprotkb": "ANKRD50; KIAA1223", "gene_names_refseq": "ANKRD50", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 50", "protein_names_refseq": "ankyrin repeat domain containing 50; ankyrin repeat domain-containing protein 50 isoform 2; ankyrin repeat domain-containing protein 50", "tax_id": 9606, "disease": "", "pathway": " (hsa:57182)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10.1101/2023.09.13.557529;18220336;18669648;19651622;23186163;23481700;25278552;25418920;25576301;26992070;27909246;27920218;28218747;28832583;28834231;28855257;28904123;29242379;29485866;29557506;29632046;29786170;30315122;30429286;31154438;31222486;31844290;31848261;32157095;32161166;32387766;32488085;32897882;32938616;33298915;33392160;33633747;33912179;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35580925", "class_list": "", "function": "ANKRD50 simultaneously engages multiple parts of the SNX27-retromer-WASH complex machinery in a direct and co-operative interaction network that is needed to efficiently recycle the nutrient transporters., [RefSeq, PubMed]; Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552)., [UniProtKB]", "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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "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": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K4V3;B4DHJ6;E9PDW0;Q6N064;Q6ZSE6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005768 endosome", "go_biological_process": "GO:0015031 protein transport;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9ULJ7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2D5-4", "uniprot_id": [ { "id": "PLAK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2D5", "type": "external" } ], "mass": 122071.0, "length": 1103, "protein_name": "PALM2-AKAP2 fusion protein", "gene_name": "PALM2AKAP2", "organism": "Human", "refseq_name": "PALM2-AKAP2 fusion protein isoform 2 (PALM2)", "refseq_ac": [ { "id": "NP_001032370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032370", "type": "external" } ], "gene_names_uniprotkb": "PALM2AKAP2; KIAA0920; PAKAP; PALM2", "gene_names_refseq": "AKAP-KL; AKAP2; AKAPKL; MISP2; PALM2-AKAP2; PALM2AKAP2; PALM2; PRKA2", "protein_names_uniprotkb": "PALM2-AKAP2 fusion protein; A-kinase anchor protein 2; AKAP-2; AKAP-KL; PRKA2; Paralemmin A kinase anchor protein; Paralemmin-2; Protein kinase A-anchoring protein 2", "protein_names_refseq": "A kinase (PRKA) anchor protein 2; A-kinase anchor protein 2; A-kinase anchoring protein 2; PALM2-AKAP2 fusion protein isoform 2 (PALM2); PALM2-AKAP2 fusion protein; PALM2-AKAP2 fusion; PALM2-AKAP2 readthrough; paralemmin 2; paralemmin A kinase anchor protein; protein kinase A anchoring protein 2; protein kinase A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:445815)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11478809;12646697;17081983;18077418;18212344;18220336;18452278;18491316;18669648;18707149;19651622;19664994;19690332;20068231;20166139;21406692;23481700;24275569;25114211;25548167;25576301;25645385;27920218;28063628;28218747;28228285;28514659;28832583;29242379;29393594;29508533;29632046;29632711;29786170;30779550;30833945;31154438;31530632;31848261;31998317;32502341;37328063;37938771;38242328", "class_list": "", "function": "AKAP2-anchored extracellular signal-regulated kinase 1 (ERK1) regulates cardiac myofibroblast migration., [RefSeq, PubMed]; Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carried by cAMP. Binds to and modulates the structure of the actin cytoskeleton., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Prenylated PALM2 Promotes the Migration of Esophageal Squamous Cell Carcinoma Cells Through Activating Ezrin., [RefSeq, PubMed]; This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with other paralemmin paralogs in humans and several other taxa. The gene encodes three distinct protein isoforms, the PALM2 isoform, the AKAP2 isoform and the PALM2-AKAP2 isoform. The biological significance of the PALM2-AKAP2 isoforms is yet unknown. Earlier, PALM2 and AKAP2 were annotated as separate genes and PALM2-AKAP2 was annotated as a readthrough gene. [provided by RefSeq, May 2019]., [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": 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": 32, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A9Z1X9;B1ALX9;B2RTU4;B3KQ00;B4DTZ2;B7ZW07;B9EJB5;Q8IXS6;Q8N9D5;Q96DU1;Q9UG26", "ec_number_list": [], "go_molecular_function": "GO:0051018 protein kinase A binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9Y2D5-4", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y673-1", "uniprot_id": [ { "id": "ALG5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y673", "type": "external" } ], "mass": 36946.0, "length": 324, "protein_name": "Dolichyl-phosphate beta-glucosyltransferase", "gene_name": "ALG5", "organism": "Human", "refseq_name": "dolichyl-phosphate beta-glucosyltransferase isoform 2", "refseq_ac": [ { "id": "NP_001135836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135836", "type": "external" } ], "gene_names_uniprotkb": "ALG5; HSPC149", "gene_names_refseq": "ALG5; PKD7; bA421P11.2", "protein_names_uniprotkb": "Dolichyl-phosphate beta-glucosyltransferase; 2.4.1.117; Asparagine-linked glycosylation protein 5 homolog; DolP-glucosyltransferase", "protein_names_refseq": "Alg5, S. cerevisiae, homolog of; asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase); asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase); asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog; asparagine-linked glycosylation protein 5 homolog; dolP-glucosyltransferase; dolichyl phosphate glucosyltransferase; dolichyl-phosphate beta-glucosyltransferase isoform 2", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); polycystic kidney disease 7 (Disease Ontology:DOID:0060952)", "pathway": " (hsa:29880); (R-HSA-480985)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10359825;11237011;12429023;24714562;25418920;25576301;25892735;26992070;27846572;28510447;29437277;29493099;29557506;30410026;30429286;31217245;31530632;31844290;31848261;32157095;32357974;32488085;32938616;33392160;33537174;33633747;33717175;33936100;33968037;33981976;34185709;34357683;35051231;35494241;35580925;35896117;36284347", "class_list": "glycogene;glycosyltransferase", "function": "Dolichyl-phosphate beta-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. Dolichyl-phosphate beta-glucosyltransferase produces dolichyl beta-D-glucosyl phosphate/Dol-P-Glc, the glucose donor substrate used sequentially by ALG6, ALG8 and ALG10 to add glucose residues on top of the Man(9)GlcNAc(2)-PP-Dol structure. These are the three last steps in the biosynthetic pathway of dolichol-linked oligosaccharides to produce Glc(3)Man(9)GlcNAc(2)-PP-Dol. The enzyme is most probably active on the cytoplasmic side of the endoplasmic reticulum while its product Dol-P-Glc is the substrate for ALG6, ALG8 and ALG11 in the lumen of the endoplasmic reticulum., [UniProtKB, PubMed, PubMed]; Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis., [RefSeq, PubMed]; This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 354, "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": "B4DR37;Q5TBA6", "ec_number_list": [ { "id": "2.4.1.117", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.117", "type": "external" } ], "go_molecular_function": "GO:0004581 dolichyl-phosphate beta-glucosyltransferase activity", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0098556 cytoplasmic side of rough endoplasmic reticulum membrane", "go_biological_process": "GO:0006488 dolichol-linked oligosaccharide biosynthetic process;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9Y673-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00326-1", "uniprot_id": [ { "id": "ADH1G_HUMAN", "url": "https://www.uniprot.org/uniprot/P00326", "type": "external" } ], "mass": 39868.0, "length": 375, "protein_name": "Alcohol dehydrogenase 1C", "gene_name": "ADH1C", "organism": "Human", "refseq_name": "alcohol dehydrogenase 1C", "refseq_ac": [ { "id": "NP_000660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000660", "type": "external" } ], "gene_names_uniprotkb": "ADH1C; ADH3", "gene_names_refseq": "ADH1C; ADH3", "protein_names_uniprotkb": "Alcohol dehydrogenase 1C; 1.1.1.1; Alcohol dehydrogenase subunit gamma", "protein_names_refseq": "ADH, gamma subunit; alcohol dehydrogenase 1C; alcohol dehydrogenase 3 (class I), gamma polypeptide; aldehyde reductase", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); late onset Parkinson's disease (Disease Ontology:DOID:0060892); pancreatic cancer (Disease Ontology:DOID:1793)", "pathway": " (hsa:126); (R-HSA-5365859); (R-HSA-71384)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10329026;10369264;10441588;10631996;10697413;10839978;10843999;11007799;11237011;11245473;11274460;12036956;12226107;12680773;14532297;14596915;1524834;15449945;16788062;1755855;18039331;18196;18805086;1889753;19068087;1985938;20616185;20801113;21529158;21621639;21851338;22019272;224930;22655231;23220587;270680;2935875;29557506;29632711;3013304;31154438;31844290;31848261;32157095;32161166;32357974;32387766;3278908;32897882;32938616;33298915;3365377;33691108;33968037;34019948;34087483;34171305;34509645;35051231;36010968;36284347;36701787;37378938;37510297;3758060;37890508;4065146;427099;4504607;4748759;6391921;6391957;6395883;8074657;8493914;9228021;9677409;9705317;9982", "class_list": "", "function": "ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal Alcohol Spectrum Disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Alcohol dehydrogenase. Exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism., [UniProtKB, PubMed]; Association of ADH1B rs1229984, ADH1C rs698, and ALDH2 rs671 with Alcohol abuse and Alcoholic Cirrhosis in People Living in Northeast Vietnam. Publication Status: Online-Only, [RefSeq, PubMed]; INVESTIGATION OF ALCOHOL DEHYDROGENASE (ADH3) GENE POLYMOPHISM IN PATIENTS WITH CHRONIC ALCOHOLIC PANCRATITIS IN AZERBAIJAN POPULATION., [RefSeq, PubMed]; LncRNA LINC01339 Hinders the Development of Wilms' Tumor via MiR-135b-3p/ADH1C Axis., [RefSeq, PubMed]; This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation to acetaldehyde, thus playing a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. An association between ADH1C polymorphism and alcohol dependence has not been established. [provided by RefSeq, Sep 2019]., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4PJ18;Q5WRV0;Q6LBW4;Q6NWV0;Q6NZA7", "ec_number_list": [ { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" }, { "id": "1.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.1", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.284", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.284", "type": "external" }, { "id": "1.1.1.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.66", "type": "external" } ], "go_molecular_function": "GO:0004022 alcohol dehydrogenase (NAD+) activity;GO:0008270 zinc ion binding;GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0120542 ethanol dehydrogenase (NAD+) activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0042572 retinol metabolic process;GO:0042573 retinoic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P00326-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZF4-1", "uniprot_id": [ { "id": "AGRG5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZF4", "type": "external" } ], "mass": 59000.0, "length": 528, "protein_name": "Adhesion G protein-coupled receptor G5", "gene_name": "ADGRG5", "organism": "Human", "refseq_name": "adhesion G-protein coupled receptor G5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001291305", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291305", "type": "external" } ], "gene_names_uniprotkb": "ADGRG5; GPR114; PGR27; PRO6017", "gene_names_refseq": "ADGRG5; GPR114; PGR27", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor G5; G protein-coupled receptor 114; G protein-coupled receptor PGR27", "protein_names_refseq": "G protein-coupled receptor 114; G protein-coupled receptor PGR27; adhesion G-protein coupled receptor G5 isoform 1 precursor; probable G-protein coupled receptor 114", "tax_id": 9606, "disease": "", "pathway": " (hsa:221188)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;12435584;12679517;12975309;20600896;21724806;24715725;25713288;25892735;27846572;28063628;28832583;28860189;29242379;29393594;29632046;29786170;30315122;31217245;31844290;32265295;32387766;32502341;32983136;33141586;33912179;33981976;34357683;35051231;35154160;35418678;36581221;37673336", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Orphan adhesion G protein-coupled receptor (aGPCR) (PubMed:37673336). 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:37673336). ADGRG5 is specifically coupled to G(s) G proteins and mediates activation of adenylate cyclase activity (PubMed:37673336)., [UniProtKB, PubMed]; This gene encodes a member of the adhesion family of G-protein coupled receptors. Members of this family are characterized by long N-termini and multiple functional domains. They may play a role in the immune system as well as in the central nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 8, "predicted_n_glycosites": 8, "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": 2, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R6S3;A8K9R8;B3KXZ5;Q6ZMH7;Q6ZML4;Q86SL8;Q8IZ14", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;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", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8IZF4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZF3-1", "uniprot_id": [ { "id": "AGRF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZF3", "type": "external" } ], "mass": 77719.0, "length": 695, "protein_name": "Adhesion G protein-coupled receptor F4", "gene_name": "ADGRF4", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor F4 precursor", "refseq_ac": [ { "id": "NP_001334784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334784", "type": "external" } ], "gene_names_uniprotkb": "ADGRF4; GPR115; PGR18", "gene_names_refseq": "ADGRF4; GPR115; PGR18", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor F4; G protein-coupled receptor 115; G protein-coupled receptor PGR18", "protein_names_refseq": "G-protein coupled receptor PGR18; adhesion G protein-coupled receptor F4 precursor; probable G-protein coupled receptor 115; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:221393)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12435584;12679517;16959974;25713288;28411811;29242379;29557506;31530632;32488085;33912179;35051231;35580925;36215666;36396823", "class_list": "", "function": "Clinical significance and functional role of adhesion G-protein-coupled receptors in human pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; Orphan receptor., [UniProtKB]; Sequence analysis of this gene suggests that it is encodes a member of the superfamily of G protein-couple receptors. G protein-coupled receptors typically contain seven hydrophobic transmembrane domains, interact with guanine nucleotide binding regulatory proteins, and detect molecules outside the cell and act to transduce these signals into intracellular responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 12, "predicted_n_glycosites": 12, "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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B3KTD0;Q2PNZ0;Q5T5B5;Q5T5B6;Q86SN9;Q8IXE6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "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", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8IZF3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30837-1", "uniprot_id": [ { "id": "AL1B1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30837", "type": "external" } ], "mass": 57249.0, "length": 517, "protein_name": "Aldehyde dehydrogenase family 1 member B1, mitochondrial", "gene_name": "ALDH1B1", "organism": "Human", "refseq_name": "aldehyde dehydrogenase X, mitochondrial precursor", "refseq_ac": [ { "id": "NP_000683", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000683", "type": "external" } ], "gene_names_uniprotkb": "ALDH1B1; ALDH5; ALDHX", "gene_names_refseq": "ALDH1B1; ALDH5; ALDHX", "protein_names_uniprotkb": "Aldehyde dehydrogenase family 1 member B1, mitochondrial; 1.2.1.28; 1.2.1.36; 1.2.1.3; 1.7.1.-; Aldehyde dehydrogenase 5; Aldehyde dehydrogenase X; Nitroglycerin reductase ALDH1B1", "protein_names_refseq": "ALDH class 2; acetaldehyde dehydrogenase 5; aldehyde dehydrogenase 5; aldehyde dehydrogenase X, mitochondrial precursor; aldehyde dehydrogenase X, mitochondrial; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:219); (R-HSA-71384); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10441588;10631996;10697413;10843999;11237011;11923310;12198491;14623864;15522782;15870080;16115876;16788062;17101804;17297443;1755855;17579211;18196;19841671;1985938;2061311;20616185;22262461;224930;22710082;23201127;23931759;24126823;24315374;24520911;25413692;26504172;26923599;270680;27496948;27642048;28228285;28377575;28396416;28510447;29301859;29932645;30120231;31327635;31695197;3278908;33257573;3365377;34229054;34704252;34769507;34943861;35788181;35805102;35870450;36284347;36629048;37716420;38665916;4065146;40914422;427099;4504607;4748759;6395883;7623837;8074657;8244338;9982", "class_list": "", "function": "AMBRA1 Negatively Regulates the Function of ALDH1B1, a Cancer Stem Cell Marker, by Controlling Its Ubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; Aldehyde Dehydrogenase 1B1 Is Implicated in DNA Damage Response in Human Colorectal Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Broad specificity, mitochondrial aldehyde dehydrogenase that could play a role in the detoxification of alcohol-derived acetaldehyde and other aldehydes (PubMed:20616185, PubMed:25413692, PubMed:35788181). Shows an absolute preference for NAD(+) as no activity is detected with NADP(+) (PubMed:20616185, PubMed:25413692). Has a high affinity and catalytic efficiency toward aliphatic medium-chain saturated aldehydes relative to short-chain and aromatic aldehydes in vitro (PubMed:20616185). Also capable of metabolizing products of lipid peroxidation, namely 4-hydroxynon-2-enal(4-HNE) and malonaldehyde (MDA) but with lower catalytic efficiency (PubMed:20616185). In vitro, it can also display a nitroglycerin reductase activity (PubMed:25413692). Has also an esterase activity in vitro, but this may be not physiologically relevant in vivo (PubMed:20616185)., [UniProtKB, PubMed, PubMed, PubMed]; Multi-omics profiling reveals cellular pathways and functions regulated by ALDH1B1 in colon cancer cells., [RefSeq, PubMed]; Targeting colorectal cancer with small-molecule inhibitors of ALDH1B1. Erratum:[Nat Chem Biol. 2025 Feb;21(2):309. doi: 10.1038/s41589-024-01810-2. PMID: 39653787], [RefSeq, PubMed]; This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "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": "B2R8F0;Q8WX76;Q9BV45", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.2.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.19", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.2.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.47", "type": "external" }, { "id": "1.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.46", "type": "external" }, { "id": "1.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.31", "type": "external" }, { "id": "1.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.8", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "1.1.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.41", "type": "external" }, { "id": "1.2.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.94", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "3.4.21.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.92", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" } ], "go_molecular_function": "GO:0051287 NAD binding;GO:0004029 aldehyde dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006068 ethanol catabolic process;GO:0006081 aldehyde metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P30837-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35368-1", "uniprot_id": [ { "id": "ADA1B_HUMAN", "url": "https://www.uniprot.org/uniprot/P35368", "type": "external" } ], "mass": 56836.0, "length": 520, "protein_name": "Alpha-1B adrenergic receptor", "gene_name": "ADRA1B", "organism": "Human", "refseq_name": "alpha-1B adrenergic receptor", "refseq_ac": [ { "id": "NP_000670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000670", "type": "external" } ], "gene_names_uniprotkb": "ADRA1B", "gene_names_refseq": "ADRA1B; ADRA1; ALPHA1BAR", "protein_names_uniprotkb": "Alpha-1B adrenergic receptor; Alpha-1B adrenoceptor; Alpha-1B adrenoreceptor", "protein_names_refseq": "adrenergic, alpha-1B-, receptor; alpha-1B adrenergic receptor; alpha-1B adrenoceptor; alpha-1B adrenoreceptor", "tax_id": 9606, "disease": "polycystic ovary syndrome (Disease Ontology:DOID:11612)", "pathway": " (hsa:147); (R-HSA-390696); (R-HSA-416476); (R-HSA-416482)", "pathway_count": 4, "publication_count": 87, "publication_id_list": "10191087;10215710;10321720;10531390;10567430;10727532;10861009;11015615;11237011;11283606;11294240;11313914;11742120;11753430;12101119;12106601;12120503;12123608;12428542;12433842;12515866;1328250;15655528;15699075;15749160;15951850;16182515;16212495;16268778;16339447;16362076;16480771;16754659;16923326;17052695;18374420;18434541;18515384;18577758;18802028;18936096;1905813;19212140;1980236;20871122;21118696;2172775;22120526;22661716;23148172;24567387;24890609;25414122;2570461;27072905;27965369;2823383;2825170;28400472;2841328;29242379;29393594;29557506;30007591;3025863;3086311;31811856;32085899;34958868;35051231;35580925;37394637;7746284;7815325;7937899;8183249;8396931;8564227;8617235;8664309;8816443;9305846;9308960;9353340;9605427;9770463;9796816", "class_list": "", "function": "Alpha-1 adrenergic receptors are G protein-coupled receptors for catecholamines that signal through the G(q) family of G proteins, including G(q) and G(11). Upon activation, they stimulate the phosphatidylinositol-calcium second messenger pathway, leading to calcium release from intracellular stores and activation of protein kinase C (By similarity). ADRA1B binds the catecholamine ligands norepinephrine and epinephrine (PubMed:7815325, PubMed:8183249). Can also couple to G(14) and G(16) proteins (By similarity). Nuclear ADRA1B forms heterooligomers with ADRA1A to regulate phenylephrine(PE)-stimulated ERK signaling in cardiac myocytes (PubMed:18802028, PubMed:22120526). At the plasma membrane, ADRA1B interacts with CAVIN4/MURC to regulates ERK activation in cardiomyocytes, contributing to the regulation of cardiac hypertrophy (PubMed:24567387)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008]., [RefSeq]; Characterization of heteromeric complexes between chemokine (C-X-C motif) receptor 4 and alpha1-adrenergic receptors utilizing intermolecular bioluminescence resonance energy transfer assays., [RefSeq, PubMed]; L-DOPA Receptor GPR143 Functionally Couples with Adrenergic alpha1B Receptor at the Second Transmembrane Interface., [RefSeq, PubMed]; PKC-isoform specific regulation of receptor desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant alpha1B-adrenergic receptors., [RefSeq, PubMed]; Study data indicate that GRK2 and RAB5 play key roles in alpha1B-adrenergic receptor phosphorylation, internalization, and desensitization. The possibility that RAB5 might form part of a signaling complex is suggested, as well as that GDP-Rab5 might interfere with the ability of GRK2 to catalyze alpha1B-adrenergic receptor phosphorylation., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "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": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B0LPE1", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0004937 alpha1-adrenergic receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0031965 nuclear membrane;GO:0005901 caveola", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007267 cell-cell signaling;GO:0035556 intracellular signal transduction;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P35368-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08828-1", "uniprot_id": [ { "id": "ADCY1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08828", "type": "external" } ], "mass": 123440.0, "length": 1119, "protein_name": "Adenylate cyclase type 1", "gene_name": "ADCY1", "organism": "Human", "refseq_name": "adenylate cyclase type 1 isoform 1", "refseq_ac": [ { "id": "NP_066939", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066939", "type": "external" } ], "gene_names_uniprotkb": "ADCY1", "gene_names_refseq": "AC1; ADCY1; DFNB44", "protein_names_uniprotkb": "Adenylate cyclase type 1; 4.6.1.1; ATP pyrophosphate-lyase 1; Adenylate cyclase type I; Adenylyl cyclase 1; Ca(2+)/calmodulin-activated adenylyl cyclase", "protein_names_refseq": "3',5'-cyclic AMP synthetase; ATP pyrophosphate-lyase 1; Ca(2+)/calmodulin-activated adenylyl cyclase; adenyl cyclase; adenylate cyclase 1 (brain); adenylate cyclase type 1 isoform 1; adenylate cyclase type 1; adenylate cyclase type I; adenylyl cyclase 1; adenylyl cyclase subtype 1", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 44 (Disease Ontology:DOID:0110501); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:107); (R-HSA-163359); (R-HSA-163615); (R-HSA-164378); (R-HSA-170660); (R-HSA-170670); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-432040); (R-HSA-442720); (R-HSA-5610787); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-9856530)", "pathway_count": 16, "publication_count": 290, "publication_id_list": "10075700;10376603;10496952;10579907;10639123;10649434;10714768;10764742;10861086;10954748;10966113;11007482;11034202;11043579;11076974;11237011;11313909;11375483;11549699;11773440;11832410;11853546;11968001;12036966;12058044;12106601;12117970;12120503;12176338;12180353;12192414;12194985;12417718;12435627;12724311;12801959;12860470;1325798;1347957;13549488;1372004;1373524;14514735;14592814;14603322;14671004;14675202;14701836;15087129;1510932;15161916;1517224;15245432;15304325;1534149;15539556;15703994;15705806;15718470;15765929;15769620;15879134;15930098;15951850;16061793;16120822;16136078;16229832;16254602;16311594;16313925;16339192;16396903;16407073;16407156;16493421;1658606;16613843;16634148;16645038;16687412;16707575;16780920;16921024;16923326;17027958;17156409;17168849;17178220;17200122;17230639;17379646;17442700;17553904;17641202;17762891;17960137;18044684;18070890;18202181;18327258;18434541;18452278;18455992;18511455;18566127;18577758;18678926;18710921;18818202;18832070;19000668;19020623;19105585;19144687;19170255;19196978;19223390;19286674;19342448;19365551;19383790;1939224;19549984;19574955;19592253;19666503;19723632;19741198;19767740;19776033;19876791;19877275;19906846;19929708;19931550;19948480;19996169;20067783;20154143;20207148;20381629;20395968;20412786;20460306;20844016;20889716;20956384;21036126;21037092;2105456;21209331;2163110;21695114;21801010;21844907;22007132;22231273;22391300;22495674;23209152;23332756;23675550;23719536;23863937;2417744;24273487;24302888;24339784;24482543;24530924;24687066;24845016;24863049;24917297;2491850;24925320;24952464;24962572;2534964;2553411;2553705;25645385;26190834;26417854;26987903;27392633;2748346;27566546;27797339;28218747;2834384;28450397;28502923;28514659;28595943;2871555;28832583;29443750;29557506;29602314;29786170;2991279;3049610;30833991;30867808;3104109;31205027;31217245;3127824;31279028;31399091;31983287;32157095;32226383;32296767;32497535;32540603;32618402;32715661;32938616;33049737;33392160;34499618;34512170;34650124;35051231;35076816;36010968;36581221;36913138;4065330;6085243;7503232;7510718;7517665;7522622;7526388;7530449;7535000;7538665;7559455;7568118;7595566;7651538;7678419;7876172;7937899;8007951;8015379;8063828;8119955;8140421;8226994;8243272;8314585;8327893;8340388;8340414;8406495;8514797;8522976;8527267;8598224;8621513;8657103;8663304;8672451;8683474;8700127;8702633;8855281;8862523;9000504;9042338;9050880;9162098;9227644;9263355;9314552;9369468;9374639;9374640;9417641;9620797;9651336;9756892;9829975;9857068;9865521", "class_list": "", "function": "Catalyzes the formation of the signaling molecule cAMP in response to G protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (By similarity). May be involved in regulatory processes in the central nervous system. May play a role in memory and learning. Plays a role in the regulation of the circadian rhythm of daytime contrast sensitivity probably by modulating the rhythmic synthesis of cyclic AMP in the retina (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Circ-LTBP1 is involved in doxorubicin-induced intracellular toxicity in cardiomyocytes via miR-107/ADCY1 signal., [RefSeq, PubMed]; Downregulated INHBB in endometrial tissue of recurrent implantation failure patients impeded decidualization through the ADCY1/cAMP signalling pathway., [RefSeq, PubMed]; GNG7 and ADCY1 as diagnostic and prognostic biomarkers for pancreatic adenocarcinoma through bioinformatic-based analyses. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanistic investigations identified adenylate cyclase 1 (ADCY1) as a direct target of miR-23a-3p in mucosal melanoma, and knockdown of ADCY1 recapitulated all the phenotypic characteristics of miR-23a-3p overexpression. Erratum:[Theranostics. 2022 Apr 26;12(7):3578-3579. doi: 10.7150/thno.72945. PMID: 35547776] Publication Status: Online-Only, [RefSeq, PubMed]; Pancreatic cancer-derived exosomal microRNA-19a induces beta-cell dysfunction by targeting ADCY1 and EPAC2. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]", "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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D2L8;Q75MI1", "ec_number_list": [ { "id": "4.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.1", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.7.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.85", "type": "external" } ], "go_molecular_function": "GO:0004016 adenylate cyclase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0008294 calcium- and calmodulin-responsive adenylate cyclase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0070062 extracellular exosome", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0006171 cAMP biosynthetic process;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0071377 cellular response to glucagon stimulus", "synthesized_glycan_count": 0, "hit_score": 29.1, "record_id": "Q08828-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04771-1", "uniprot_id": [ { "id": "ACVR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04771", "type": "external" } ], "mass": 57153.0, "length": 509, "protein_name": "Activin receptor type-1", "gene_name": "ACVR1", "organism": "Human", "refseq_name": "activin receptor type-1 precursor", "refseq_ac": [ { "id": "NP_001096", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096", "type": "external" } ], "gene_names_uniprotkb": "ACVR1; ACVRLK2", "gene_names_refseq": "ACTRI; ACVR1A; ACVR1; ACVRLK2; ALK2; FOP; SKR1; TSRI", "protein_names_uniprotkb": "Activin receptor type-1; 2.7.11.30; ACTR-I; ALK-2; Activin receptor type I; Activin receptor-like kinase 2; SKR1; Serine/threonine-protein kinase receptor R1; TGF-B superfamily receptor type I; TSR-I", "protein_names_refseq": "TGF-B superfamily receptor type I; activin A receptor, type II-like kinase 2; activin receptor type I; activin receptor type-1 precursor; activin receptor-like kinase 2; hydroxyalkyl-protein kinase; serine/threonine-protein kinase receptor R1", "tax_id": 9606, "disease": "primary open angle glaucoma (Disease Ontology:DOID:1070); severe pre-eclampsia (Disease Ontology:DOID:13129); fibrodysplasia ossificans progressiva (Disease Ontology:DOID:13374); exfoliation syndrome (Disease Ontology:DOID:13641); primary angle-closure glaucoma (Disease Ontology:DOID:1405); pancreatic cancer (Disease Ontology:DOID:1793)", "pathway": " (hsa:90)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16642017;17344846;17911401;18070108;19085907;19330033;19369195;20628059;21791611;22484487;22977237;25354296;27397612;29317506;29557506;30779550;31800957;32157095;32488085;32938616;33592498;33912179;35051231;35251023;37231012;37759764;37938771;38229201;38557054;39288033;8389764;8397373;8555189;9748228", "class_list": "", "function": "A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders. Erratum:[Nat Commun. 2023 Sep 28;14(1):6054. doi: 10.1038/s41467-023-41873-8. PMID: 37770526] Publication Status: Online-Only, [RefSeq, PubMed]; AAV-Mediated Targeting of the Activin A-ACVR1[R206H] Signaling in Fibrodysplasia Ossificans Progressiva. Publication Status: Online-Only, [RefSeq, PubMed]; Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]., [RefSeq]; BMP-ACVR1 Axis is Critical for Efficacy of PRC2 Inhibitors in B-Cell Lymphoma., [RefSeq, PubMed]; BRCC3 Regulation of ALK2 in Vascular Smooth Muscle Cells: Implication in Pulmonary Hypertension., [RefSeq, PubMed]; Bone morphogenetic protein (BMP) type I receptor that is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation (PubMed:20628059, PubMed:22977237). As a type I receptor, forms heterotetrameric receptor complexes with the type II receptors AMHR2, ACVR2A or ACVR2B (PubMed:17911401). Upon binding of ligands such as BMP7 or GDF2/BMP9 to the heteromeric complexes, type II receptors transphosphorylate ACVR1 intracellular domain (PubMed:25354296). In turn, ACVR1 kinase domain is activated and subsequently phosphorylates SMAD1/5/8 proteins that transduce the signal (PubMed:9748228). In addition to its role in mediating BMP pathway-specific signaling, suppresses TGFbeta/activin pathway signaling by interfering with the binding of activin to its type II receptor (PubMed:17911401). Besides canonical SMAD signaling, can activate non-canonical pathways such as p38 mitogen-activated protein kinases/MAPKs (By similarity). May promote the expression of HAMP, potentially via its interaction with BMP6 (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Unlocking the Door for Precision Medicine in Rare Conditions: Structural and Functional Consequences of Missense ACVR1 Variants., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 0, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045177 apical part of cell;GO:0048179 activin receptor complex;GO:0070724 BMP receptor complex;GO:0016020 membrane", "go_biological_process": "GO:0007507 heart development;GO:0030154 cell differentiation;GO:0030335 positive regulation of cell migration;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007179 transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q04771-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40145-1", "uniprot_id": [ { "id": "ADCY8_HUMAN", "url": "https://www.uniprot.org/uniprot/P40145", "type": "external" } ], "mass": 140122.0, "length": 1251, "protein_name": "Adenylate cyclase type 8", "gene_name": "ADCY8", "organism": "Human", "refseq_name": "adenylate cyclase type 8", "refseq_ac": [ { "id": "NP_001106", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106", "type": "external" } ], "gene_names_uniprotkb": "ADCY8", "gene_names_refseq": "AC8; ADCY3; ADCY8; HBAC1", "protein_names_uniprotkb": "Adenylate cyclase type 8; 4.6.1.1; AC8; ATP pyrophosphate-lyase 8; Adenylate cyclase type VIII; Adenylyl cyclase 8; Ca(2+)/calmodulin-activated adenylyl cyclase", "protein_names_refseq": "ATP pyrophosphate-lyase 8; HEL-S-172mP; adenylate cyclase 8 (brain); adenylate cyclase type 8; adenylate cyclase type VIII; adenylyl cyclase 8; adenylyl cyclase-8, brain; ca(2+)/calmodulin-activated adenylyl cyclase; epididymis secretory sperm binding protein Li 172mP", "tax_id": 9606, "disease": "", "pathway": " (hsa:114); (R-HSA-163359); (R-HSA-163615); (R-HSA-164378); (R-HSA-170660); (R-HSA-170670); (R-HSA-381676); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-432040); (R-HSA-442720); (R-HSA-5610787); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-9856530)", "pathway_count": 17, "publication_count": 321, "publication_id_list": "10075700;10318832;10376603;10496952;10579907;10639123;10649434;10714768;10764742;10861086;10954748;10966113;11007482;11034202;11043579;11071853;11076974;11237011;11313909;11375483;11773440;11832410;11853546;11968001;12034449;12036966;12058044;12106601;12117970;12120503;12176338;12180353;12180908;12192414;12194985;12401793;12410638;12417718;12435627;12475787;12496249;12724311;12801959;12860470;12938160;1325798;1347957;13549488;13680124;1372004;1373524;14514735;14592814;14603322;14671004;14675202;14701836;14988243;15087129;1510932;15161916;1517224;15245432;15304325;1534149;15539556;15569269;15703994;15705806;15718470;15765929;15769620;15879134;15930098;15951850;15955806;15995848;16061793;16120822;16136078;16229832;16254602;16311594;16313925;16339192;16396903;16407073;16407156;16493421;1658606;16613843;16613879;16634148;16645038;16687412;16707575;16780920;16921024;16923326;16959974;16973695;17027958;17095603;17156409;1715695;17168849;17178220;17200122;17230639;17306374;17379646;17442700;17444618;17553904;17641202;17762891;17900700;17960137;18044684;18070890;18202100;18202181;18287102;18327258;18412318;18434541;18455992;18511455;18566127;18577758;18669648;18678926;18710921;18818202;18832070;19000668;19020623;19105585;19144687;19170255;19196978;19223390;19286674;19342448;19365551;19383790;1939224;19549984;19574955;19592253;19666503;19723632;19741198;19767740;19776033;19859570;19861722;19876791;19877275;19906846;19929708;19931550;19948480;19996169;20067783;20154143;20207148;20381629;20395968;20412786;20460306;20844016;20889716;20956384;21036126;21037092;2105456;21209331;2163110;21695114;21801010;21844907;22007132;22231273;22391300;22495674;23209152;23332756;23481700;23675550;23719536;23863937;2417744;24273487;24302888;24339784;24530924;24687066;24715725;24845016;24863049;24917297;2491850;24925320;24952464;24962572;2534964;25403481;2553411;2553705;26190834;26308095;26417854;26480920;26987903;27392633;2748346;27566546;27651839;27797339;27862975;2834384;28450397;28502923;28595943;2871555;28832583;28904123;29393594;29443750;29557506;29602314;2991279;30001391;30315122;3049610;30746562;30833991;3104109;31205027;3127824;31279028;31399091;31844290;31983287;32226383;32296767;32497535;32540603;32618402;32715661;32938616;33049737;34499618;35051231;4065330;6085243;7503232;7510718;7517665;7522622;7526388;7530449;7535000;7538665;7559455;7568118;7589461;7595566;7651538;7678419;7876172;7937899;8007951;8015379;8063828;8076676;8119955;8138058;8140421;8226994;8243272;8327893;8340388;8340414;8404634;8405712;8406495;8514797;8522976;8527267;8598224;8621513;8657103;8663304;8672451;8683474;8700127;8702633;8830891;8855281;8862523;9000504;9042338;9050880;9162098;9227644;9263355;9314552;9369468;9374639;9374640;9417641;9488697;9620797;9651336;9756892;9829975;9857068;9865521;9920805", "class_list": "", "function": "ADCY8 is required for the physiological activation of glucose-induced signalling pathways in beta cells, for glucose tolerance and for hypothalamic adaptation to a high-fat diet via regulation of islet insulin secretion., [RefSeq, PubMed]; Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]., [RefSeq]; Catalyzes the formation of cAMP in response to calcium entry leadings to cAMP signaling activation that affect processes suche as synaptic plasticity and insulin secretion. Plays a role in many brain functions, such as learning, memory, drug addiction, and anxiety modulation through regulation of synaptic plasticity by modulating long-term memory and long-term potentiation (LTP) through CREB transcription factor activity modulation. Plays a central role in insulin secretion by controlling glucose homeostasis through glucagon-like peptide 1 and glucose signaling pathway and maintains insulin secretion through calcium-dependent PKA activation leading to vesicle pool replenishment. Also, allows PTGER3 to induce potentiation of PTGER4-mediated PLA2 secretion by switching from a negative to a positive regulation, during the IL1B induced-dedifferentiation of smooth muscle cells., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling., [UniProtKB, UniProtKB]; Colocalization of caveolin1 and adenylyl cyclase 8 in lipid rafts depends on the cytoskeleton., [RefSeq, PubMed]; Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women, [RefSeq, PubMed]; Results show that promoter hypermethylation of ADCY8, CDH8, and ZNF582 are correlated with high-grade squamous intraepithelial lesion. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 82, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "4.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.1", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.7.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.85", "type": "external" } ], "go_molecular_function": "GO:0003779 actin binding;GO:0004016 adenylate cyclase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0014069 postsynaptic density;GO:0016020 membrane", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0006171 cAMP biosynthetic process;GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 32.2, "record_id": "P40145-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8R7-1", "uniprot_id": [ { "id": "AL14E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8R7", "type": "external" } ], "mass": 29338.0, "length": 260, "protein_name": "ARL14 effector protein", "gene_name": "ARL14EP", "organism": "Human", "refseq_name": "ARL14 effector protein", "refseq_ac": [ { "id": "NP_689529", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689529", "type": "external" } ], "gene_names_uniprotkb": "ARL14EP; ARF7EP; C11orf46", "gene_names_refseq": "ARF7EP; ARL14EP; C11orf46; dJ299F11.1", "protein_names_uniprotkb": "ARL14 effector protein; ARF7 effector protein", "protein_names_refseq": "ADP ribosylation factor like GTPase 14 effector protein; ADP-ribosylation factor-like 14 effector protein; ARF7 effector protein; ARL14 effector protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:120534)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;21458045;23186163;25576301;26375851;26992070;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29786170;30315122;30429286;30484775;30779550;31154438;31217245;31511512;31844290;32157095;32161166;32357974;32897882;32938616;32983136;33537174;33592498;33691108;33912179;33936100;33968037;34185709;35580925;36010968;36241641;36720993;37938771;38159574", "class_list": "", "function": "RNA-guided epigenetic editing of Sema6a gene promoters via a dCas9-SunTag system with C11orf46 binding normalized SEMA6A expression and rescued transcallosal dysconnectivity via repressive chromatin remodeling by the SETDB1 repressor complex. Publication Status: Online-Only, [RefSeq, PubMed]; Structural evidence for protein-protein interaction between the non-canonical methyl-CpG-binding domain of SETDB proteins and C11orf46., [RefSeq, PubMed]; The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]., [RefSeq]; Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells., [UniProtKB, PubMed]; Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome., [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": 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": 1, "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": "Q5HYH9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q8N8R7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TD06-1", "uniprot_id": [ { "id": "AGR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TD06", "type": "external" } ], "mass": 19171.0, "length": 166, "protein_name": "Anterior gradient protein 3", "gene_name": "AGR3", "organism": "Human", "refseq_name": "anterior gradient protein 3 precursor", "refseq_ac": [ { "id": "NP_789783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789783", "type": "external" } ], "gene_names_uniprotkb": "AGR3; BCMP11; PDIA18; PRO1272", "gene_names_refseq": "AG-3; AG3; AGR3; BCMP11; HAG3; PDIA18; hAG-3", "protein_names_uniprotkb": "Anterior gradient protein 3; AG-3; AG3; Anterior gradient 3 homolog; Breast cancer membrane protein 11; Protein disulfide isomerase family A, member 18; hAG-3", "protein_names_refseq": "anterior gradient homolog 3; anterior gradient protein 3 homolog; anterior gradient protein 3 precursor; breast cancer membrane protein 11; protein disulfide isomerase family A, member 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:155465)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;12477722;12592373;12975309;15340161;15935701;18086916;22361111;23294566;25418920;25751668;26170690;29237092;29557506;31848261;33968037;34057117;34519905;35051231;35318648;35857928;36593009;37944928", "class_list": "", "function": "Estrogen-regulated AGR3 activates the estrogen receptor signaling pathway to promote tamoxifen resistance in breast cancer., [RefSeq, PubMed]; HAG-2 and hAG-3, human homologues of genes involved in differentiation, are associated with oestrogen receptor-positive breast tumours and interact with metastasis gene C4.4a and dystroglycan [hAG-3 protein], [RefSeq, PubMed]; Integrative analysis of genomic and transcriptomic alterations of AGR2 and AGR3 in cancer., [RefSeq, PubMed]; Over-expression of Anterior Gradient 3 Is Associated With Tumor Progression and Poor Survival in Gastric Cancer., [RefSeq, PubMed]; Profile of anterior gradient 3 (AGR3) mRNA expression and serum levels in benign and malignant breast tumors., [RefSeq, PubMed]; Prognostic Impact of AGR3 Protein Expression in Breast Cancer: A Systematic Review and Meta-analysis., [RefSeq, PubMed]; Required for calcium-mediated regulation of ciliary beat frequency and mucociliary clearance in the airway. Might be involved in the regulation of intracellular calcium in tracheal epithelial cells., [UniProtKB, UniProtKB]; Specific induction of Hag2 and Hag3 during hormone-induced breast carcinomas further support developmental specificity for the PDI/ERp family members, [RefSeq, PubMed]; This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This gene is expressed in ciliated airway epithelial cells and, in mouse, plays a role in ciliary beat frequency in multiciliated cells. This gene is also over-expressed in breast, ovarian, and prostrate cancers. [provided by RefSeq, Dec 2016]., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "risk", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A4D120", "ec_number_list": [], "go_molecular_function": "GO:0002162 dystroglycan binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8TD06-1", "record_type": "protein", "filter_code": "0000100.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35626-1", "uniprot_id": [ { "id": "GRK3_HUMAN", "url": "https://www.uniprot.org/uniprot/P35626", "type": "external" } ], "mass": 79710.0, "length": 688, "protein_name": "G protein-coupled receptor kinase 3", "gene_name": "GRK3", "organism": "Human", "refseq_name": "G protein-coupled receptor kinase 3 isoform 1", "refseq_ac": [ { "id": "NP_005151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005151", "type": "external" } ], "gene_names_uniprotkb": "GRK3; ADRBK2; BARK2", "gene_names_refseq": "ADRBK2; BARK2; GRK3", "protein_names_uniprotkb": "G protein-coupled receptor kinase 3; 2.7.11.15; 2.7.11.16; Beta-ARK-2; Beta-adrenergic receptor kinase 2", "protein_names_refseq": "G protein-coupled receptor kinase 3 isoform 1; adrenergic, beta, receptor kinase 2; beta-ARK-2; beta-adrenergic receptor kinase 2", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); Parkinson's disease (Disease Ontology:DOID:14330); hypothyroidism (Disease Ontology:DOID:1459); bipolar disorder (Disease Ontology:DOID:3312); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:157); (R-HSA-418555); (R-HSA-8856825)", "pathway_count": 3, "publication_count": 166, "publication_id_list": "10097102;10436022;10567358;10613896;10769163;10983987;11007482;11071885;11076969;11237011;11247302;11454741;11588219;11919637;11927540;11988742;12036966;12058044;12086608;12106601;12180353;12221107;12234931;12429842;12451172;12464600;12717448;12860470;12944396;12958364;1317852;13549488;14662753;14671004;14726597;15134832;1517224;1535555;15473838;15671180;15728179;15765929;15769620;15951850;16159959;16313925;16459302;16460808;16516836;16687412;16723738;16903783;16923326;17168849;17267500;17344846;17360967;17456551;17522231;17713526;18032517;18044684;18166656;18199683;18477386;18577758;18775314;18819912;19105585;19140243;1968060;19696798;19732400;19853559;19876791;19929708;20231386;20351096;20381629;20596523;21036126;21102408;2163110;21799898;21995445;22118466;22357968;22484487;2257624;22942912;2417744;24186068;24384571;24680432;24687066;24715725;24746795;2491850;2553411;2553705;26403691;26417854;26829388;27600516;2871555;28904123;2890644;29393594;29443750;29557506;29602314;29632711;29741879;30315122;30410026;30833991;31092671;31222486;3127824;31279028;31399091;31983287;32157095;32226383;32357974;32387766;32497535;32540603;32618402;32715661;32897882;32938616;32983136;33049737;33060647;33298915;33691108;33717175;33912179;34171305;3417785;34405274;34509645;34561969;35051231;35494241;35580925;36907139;37048054;37543278;6085243;7569928;7822302;8340388;8427589;8514797;8553074;8672451;8837779;9169477;9263355;9303539;9417641;9651336;9723620;9812899", "class_list": "", "function": "A novel GRK3-HDAC2 regulatory pathway is a key direct link between neuroendocrine differentiation and angiogenesis in prostate cancer progression., [RefSeq, PubMed]; Aged G Protein-Coupled Receptor Kinase 3 (Grk3)-Deficient Mice Exhibit Enhanced Osteoclastogenesis and Develop Bone Lesions Analogous to Human Paget's Disease of Bone. Publication Status: Online-Only, [RefSeq, PubMed]; Dissecting the roles of GRK2 and GRK3 in mu-opioid receptor internalization and beta-arrestin2 recruitment using CRISPR/Cas9-edited HEK293 cells. Publication Status: Online-Only, [RefSeq, PubMed]; Specifically phosphorylates the activated forms of G protein-coupled receptors (PubMed:21799898). Such receptor phosphorylation initiates beta-arrestin-mediated receptor internalization, and signaling events leading to their desensitization (PubMed:21799898). Phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors (By similarity). Also phosphorylates ligand-bound C3a and C5a anaphylatoxin receptors (C3AR1 and C5AR1, respectively), leading to receptor desensitization (PubMed:21799898). Positively regulates ciliary smoothened (SMO) signaling pathway by mediating phosphorylation of SMO, facilitating SMO trafficking into the cilium and the stimulation of SMO activity (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; TEAD3 inhibits the proliferation and metastasis of prostate cancer via suppressing ADRBK2., [RefSeq, PubMed]; The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor 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, "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": 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": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9UGW9", "ec_number_list": [ { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.15", "type": "external" }, { "id": "2.7.11.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.16", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0001664 G protein-coupled receptor binding;GO:0004703 G protein-coupled receptor kinase activity;GO:0047696 beta-adrenergic receptor kinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0098794 postsynapse;GO:0098793 presynapse", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0031623 receptor internalization;GO:0002029 desensitization of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "P35626-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08AH3-1", "uniprot_id": [ { "id": "ACS2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08AH3", "type": "external" } ], "mass": 64223.0, "length": 577, "protein_name": "Acyl-coenzyme A synthetase ACSM2A, mitochondrial", "gene_name": "ACSM2A", "organism": "Human", "refseq_name": "acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_001295101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295101", "type": "external" } ], "gene_names_uniprotkb": "ACSM2A; ACSM2; MACS2", "gene_names_refseq": "A-923A4.1; ACSM2A; ACSM2", "protein_names_uniprotkb": "Acyl-coenzyme A synthetase ACSM2A, mitochondrial; 6.2.1.25; 6.2.1.2; Acyl-CoA synthetase medium-chain family member 2A; Benzoate--CoA ligase; Butyrate--CoA ligase 2A; Butyryl-coenzyme A synthetase 2A; Middle-chain acyl-CoA synthetase 2A", "protein_names_refseq": "acyl-CoA synthetase medium-chain family member 2; acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform 1; acyl-coenzyme A synthetase ACSM2A, mitochondrial; benzoate--CoA ligase; butyrate--CoA ligase 2A; butyryl-coenzyme A synthetase 2A; middle-chain acyl-CoA synthetase 2A", "tax_id": 9606, "disease": "", "pathway": " (hsa:123876); (R-HSA-177128); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "10220572;10434065;11237011;11581266;12616642;12654705;13741103;16258079;16521160;16837570;16858120;16943252;17482904;1783992;19345228;19836360;20877624;22674043;25840124;27351777;27862975;28677105;29557506;29948332;3342084;3705620;5013373;5773090;5862532;6777177;6838677;7206363;7802672;9144407;931988;975718", "class_list": "", "function": "Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. benzoate (By similarity)., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Results report the first crystal structure of a medium-chain acyl-CoA synthetase ACSM2A, in a series of substrate/product/cofactor complexes central to the catalytic mechanism., [RefSeq, PubMed]; This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also participate in the glycine conjugation pathway in the detoxification of xenobiotics such as benzoate and ibuprofen. Expression levels of this gene in the kidney may be correlated with kidney function. This gene and its paralog ACSM2B (Gene ID: 348158), both present on chromosome 16, likely arose from a chromosomal duplication event. [provided by RefSeq, May 2017]., [RefSeq]; This study assessed the naturally observed sequence diversity and protein expression variation of ACSM2A and ACSM2B. The allelic variation, haplotype diversity, Tajima's D values, and phylogenetic analyses indicated that ACSM2A and ACSM2B are highly conserved.The protein expression analyses showed that ACSM2A is the predominant transcript in liver., [RefSeq, 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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KTT9;O75202", "ec_number_list": [ { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.2", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "6.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.25", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" }, { "id": "6.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.1", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0102391 decanoate-CoA ligase activity;GO:0004321 fatty-acyl-CoA synthase activity;GO:0015645 fatty acid ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006637 acyl-CoA metabolic process;GO:0006633 fatty acid biosynthetic process;GO:0042593 glucose homeostasis;GO:0036112 medium-chain fatty-acyl-CoA metabolic process;GO:0070328 triglyceride homeostasis", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q08AH3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02749-1", "uniprot_id": [ { "id": "APOH_HUMAN", "url": "https://www.uniprot.org/uniprot/P02749", "type": "external" } ], "mass": 38298.0, "length": 345, "protein_name": "Beta-2-glycoprotein 1", "gene_name": "APOH", "organism": "Human", "refseq_name": "beta-2-glycoprotein 1 precursor", "refseq_ac": [ { "id": "NP_000033", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000033", "type": "external" } ], "gene_names_uniprotkb": "APOH; B2G1", "gene_names_refseq": "APOH; B2G1; B2GP1; BG", "protein_names_uniprotkb": "Beta-2-glycoprotein 1; APC inhibitor; Activated protein C-binding protein; Anticardiolipin cofactor; Apo-H; Apolipoprotein H; B2GPI; Beta(2)GPI; Beta-2-glycoprotein I", "protein_names_refseq": "APC inhibitor; B2GPI; activated protein C-binding protein; anticardiolipin cofactor; apo-H; apolipoprotein H (beta-2-glycoprotein I); beta(2)GPI; beta-2-glycoprotein 1 precursor; beta-2-glycoprotein 1; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); thrombosis (Disease Ontology:DOID:0060903); arteriosclerosis (Disease Ontology:DOID:2349); antiphospholipid syndrome (Disease Ontology:DOID:2988); peripheral vascular disease (Disease Ontology:DOID:341); macular retinal edema (Disease Ontology:DOID:4449); myocardial infarction (Disease Ontology:DOID:5844); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:350); (R-HSA-114608)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10.1021/acs.analchem.6b02887;10508150;10562535;10715514;11237011;11250549;11535526;12765303;1339416;1426288;1435334;14601646;14630798;14760718;15084671;15297306;1602135;16335952;1650181;1655523;16740002;1748314;1777418;18514042;19139490;19159218;19838169;22932793;23090970;2349221;23640497;24279413;24417605;24530628;27452731;28035807;29391424;29557506;29632711;29671580;29741879;30237853;30429286;30484775;31154438;31844290;32125861;32983136;34171305;34197876;34725484;35051231;35580925;37074911;37243946;38101620;38291524;39353906;40930100;6457647;6587378;7543528;8099061;8467233;9063752;9155091;9225969;9914524", "class_list": "", "function": "An allosteric redox switch in domain V of beta2-glycoprotein I controls membrane binding and anti-domain I autoantibody recognition., [RefSeq, PubMed]; Apolipoprotein H, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, hemostasis, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome (APS). The anti-beta (2) glycoprotein I antibodies from APS patients, mediate inhibition of activated protein C which has anticoagulant properties. Because beta-2-GPI is the main autoantigen in patients with APS, the disruption of this pathway by autoantibodies may be an important mechanism for thrombosis in patients with APS.[provided by RefSeq, Dec 2019]., [RefSeq]; Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Effects of apolipoprotein H downregulation on lipid metabolism, fatty liver disease, and gut microbiota dysbiosis., [RefSeq, PubMed]; Serum apolipoprotein H determines ferroptosis resistance by modulating cellular lipid composition. Erratum:[Cell Death Dis. 2024 Dec 3;15(12):875. doi: 10.1038/s41419-024-07181-9. PMID: 39627207] Publication Status: Online-Only, [RefSeq, PubMed]; The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome., [RefSeq, PubMed]; The protective effect of apolipoprotein H in paediatric sepsis. Publication Status: Online-Only, [RefSeq, 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": 4, "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": 4, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 144, "disease_count": 10, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2R9M3;Q9UCN7", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0008289 lipid binding;GO:0035473 lipase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0009986 cell surface;GO:0034364 high-density lipoprotein particle", "go_biological_process": "GO:0007597 blood coagulation, intrinsic pathway;GO:0051918 negative regulation of fibrinolysis;GO:0001937 negative regulation of endothelial cell proliferation;GO:0016525 negative regulation of angiogenesis;GO:0010596 negative regulation of endothelial cell migration", "synthesized_glycan_count": 0, "hit_score": 21.9, "record_id": "P02749-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55056-1", "uniprot_id": [ { "id": "APOC4_HUMAN", "url": "https://www.uniprot.org/uniprot/P55056", "type": "external" } ], "mass": 14553.0, "length": 127, "protein_name": "Apolipoprotein C-IV", "gene_name": "APOC4", "organism": "Human", "refseq_name": "apolipoprotein C-IV precursor", "refseq_ac": [ { "id": "NP_001637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001637", "type": "external" } ], "gene_names_uniprotkb": "APOC4", "gene_names_refseq": "APO-CIV; APOC-IV; APOC4", "protein_names_uniprotkb": "Apolipoprotein C-IV; Apo-CIV; ApoC-IV; Apolipoprotein C4", "protein_names_refseq": "apolipoprotein C-IV precursor; apolipoprotein C-IV", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:346); (R-HSA-8866423); (R-HSA-8964046); (R-HSA-9029569)", "pathway_count": 4, "publication_count": 64, "publication_id_list": "10191299;10224102;10852956;10858438;10996355;11149950;11237011;11353333;11369260;11500512;11604492;11875109;12032151;12150943;12454263;12612088;12658354;12700342;12700345;14703507;14732096;14764426;15147902;15265030;15591219;16335952;16959974;17186944;17339654;18644789;18782758;19481530;20466882;20466885;20494359;20566875;20855588;21187453;21310851;21507939;21776394;21943158;22461740;22517366;22541735;22673513;23090970;23496987;23519696;23790976;26129832;26984517;28082258;28842423;28869506;29557506;29671580;29772548;37074911;7803401;8294473;8530039;8626595;9633939", "class_list": "", "function": "APOC4 rs1132899 polymorphism was associated with an increased risk of premature coronary artery disease in Chinese subjects. Publication Status: Online-Only, [RefSeq, PubMed]; Includes the observation of APOC4-APOC2 read-through transcription, [RefSeq, PubMed]; May participate in lipoprotein metabolism., [UniProtKB, UniProtKB, UniProtKB]; Regulated expression of gene cluster in macrophages, [RefSeq, PubMed]; This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene. [provided by RefSeq, Mar 2011]., [RefSeq]; Variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KWY6;Q53YY8", "ec_number_list": [], "go_molecular_function": "GO:0005319 lipid transporter activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0034364 high-density lipoprotein particle;GO:0034361 very-low-density lipoprotein particle", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0070328 triglyceride homeostasis;GO:0019915 lipid storage;GO:0006869 lipid transport", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "P55056-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43506-1", "uniprot_id": [ { "id": "ADA20_HUMAN", "url": "https://www.uniprot.org/uniprot/O43506", "type": "external" } ], "mass": 81603.0, "length": 726, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 20", "gene_name": "ADAM20", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 20 isoform X1", "refseq_ac": [ { "id": "XP_005268208", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_005268208", "type": "external" } ], "gene_names_uniprotkb": "ADAM20", "gene_names_refseq": "ADAM20", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 20; 3.4.24.-; ADAM 20", "protein_names_refseq": "disintegrin and metalloproteinase domain-containing protein 20 isoform X1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8748); (R-HSA-2534343)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "10524237;11237011;20364096;29557506;39894887;8195297;9469942", "class_list": "", "function": "May be involved in sperm maturation and/or fertilization., [UniProtKB]", "predicted_glycosites": 7, "predicted_n_glycosites": 6, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q6GTZ1;Q9UKJ9", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:1990913 sperm head plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007338 single fertilization;GO:0008584 male gonad development", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O43506-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60266-1", "uniprot_id": [ { "id": "ADCY3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60266", "type": "external" } ], "mass": 128960.0, "length": 1144, "protein_name": "Adenylate cyclase type 3", "gene_name": "ADCY3", "organism": "Human", "refseq_name": "adenylate cyclase type 3 isoform 1", "refseq_ac": [ { "id": "NP_001307542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307542", "type": "external" } ], "gene_names_uniprotkb": "ADCY3; KIAA0511", "gene_names_refseq": "AC-III; AC3; ADCY3; BMIQ19", "protein_names_uniprotkb": "Adenylate cyclase type 3; 4.6.1.1; AC-III; AC3; ATP pyrophosphate-lyase 3; Adenylate cyclase type III; Adenylate cyclase, olfactive type; Adenylyl cyclase 3", "protein_names_refseq": "ATP pyrophosphate-lyase 3; adenylate cyclase type 3 isoform 1; adenylate cyclase type 3; adenylate cyclase type III; adenylate cyclase, olfactive type; adenylyl cyclase 3; adenylyl cyclase, type III", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); major depressive disorder (Disease Ontology:DOID:1470); diabetes mellitus (Disease Ontology:DOID:9351); obesity (Disease Ontology:DOID:9970); obsolete body mass index quantitative trait locus 19 (MONDO:MONDO:0054749)", "pathway": " (hsa:109); (R-HSA-163359); (R-HSA-163615); (R-HSA-164378); (R-HSA-170660); (R-HSA-170670); (R-HSA-381753); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-432040); (R-HSA-5610787); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-9856530)", "pathway_count": 16, "publication_count": 369, "publication_id_list": "10.1101/2023.09.13.557529;10075700;10376603;10460249;10496952;10579907;10639123;10649434;10714768;10764742;10861086;10954748;10966113;11007482;11034202;11043579;11076974;11237011;11313909;11375483;11549699;11773440;11832410;11853546;11968001;12036966;12058044;12106601;12117970;12120503;12176338;12180353;12192414;12194985;12417718;12435627;12724311;12801959;12860470;1325798;1347957;13549488;1372004;1373524;14514735;14592814;14603322;14671004;14675202;14701836;15087129;1510932;15161916;1517224;15245432;15304325;1534149;15539556;15598656;15703994;15705663;15705806;15718470;15765929;15769620;15879134;15930098;15951850;16061793;16120822;16136078;16229832;16254602;16311594;16313925;16339192;16396903;16407073;16407156;16493421;1658606;16613843;16634148;16645038;16687412;16707575;16780920;16921024;16923326;17027958;17156409;17168849;17178220;17200122;17230639;17379646;17442700;17553904;17601748;17641202;17762891;17873857;17960137;17973576;18044684;18070890;18202181;18327258;18434541;18452278;18455992;18507432;18511455;18566127;18577758;18678926;18710921;18818202;18832070;19000668;19020623;19105585;19144687;19170255;19196978;19223390;19286674;19342448;19365551;19383790;1939224;19474308;19549984;19574955;19581598;19592253;19651622;19666503;19723632;19741198;19767740;19776033;19876791;19877275;19906846;19929708;19931550;19948480;19996169;20067783;20154143;20207148;20381629;20395968;20412786;20460306;20844016;20889716;20956384;21036126;21037092;2105456;21209331;2163110;21695114;21801010;21844907;22007132;22231273;22391300;22495674;23186163;23209152;23332756;23675550;23719536;23863937;2417744;24273487;24302888;24316890;24339784;24530924;24687066;24714562;24845016;24863049;24917297;2491850;24925320;24952464;24962572;2534964;2553411;2553705;25784876;25880248;25977809;26154972;26190834;26373539;26417854;26987903;26992070;27392633;2748346;27566546;27600516;27797339;27846572;27862975;27916747;27916748;27920218;28063628;28218747;28228285;2834384;28450397;28502923;28514659;28595943;28656349;2871555;28832583;28834231;28855257;28904123;29235485;29242379;29311635;29311636;29311637;29393594;29437277;29443750;29493099;29508533;29557506;29602314;29632046;29769354;29786170;2991279;30315122;30429286;3049610;30779550;30833945;30833991;31040214;3104109;31205027;31217245;31222486;3127824;31279028;31399091;31530632;31844290;31848261;31983287;32157095;32161166;32226383;32296767;32350084;32357974;32387766;32497535;32502341;32540603;32618402;32715661;32897882;32938616;32983136;33049737;33141586;33298915;33392160;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34481002;34499618;34509645;34561969;34821371;34932366;35051231;35580925;35705054;36010968;36241641;37855273;37955134;38334651;38684889;39519366;4065330;6085243;7503232;7510718;7517665;7522622;7526388;7530449;7535000;7538665;7559455;7568118;7595566;7651538;7678419;7876172;7937899;8007951;8015379;8063828;8119955;8140421;8226994;8243272;8327893;8340388;8340414;8406495;8476432;8514797;8522976;8527267;8598224;8621513;8657103;8663304;8672451;8683474;8700127;8702633;8798667;8855281;8862523;9000504;9042338;9050880;9162098;9227644;9263355;9314552;9369468;9374639;9374640;9417641;9620797;9651336;9756892;9768837;9829975;9857068;9865521;9920776", "class_list": "", "function": "ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced traits are jointly associated with CAD risk in Chinese Han people., [RefSeq, PubMed]; Adenylate cyclase 3: a potential genetic link between obesity and major depressive disorder. Review article, [RefSeq, PubMed]; Catalyzes the formation of the signaling molecule cAMP in response to G protein signaling (PubMed:29311635). Participates in signaling cascades triggered by odorant receptors via its function in cAMP biosynthesis: specifically activated by G alpha protein GNAL/G(olf) in olfactory epithelium (By similarity). Mediates signaling cascades in primary cilia: specifically activated by G alpha protein GNAS/G(s) in primary cilia (PubMed:29311635). Plays a role in regulating food intake and body fat accumulation in the paraventricular nucleus of the hypothalamus (PVH) by acting downstream of MC4R activation (PubMed:29311635). Required for normal sperm motility and normal male fertility (By similarity)., [UniProtKB, UniProtKB, PubMed]; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling., [UniProtKB, UniProtKB]; Cold-induced expression of a truncated adenylyl cyclase 3 acts as rheostat to brown fat function. Erratum:[Nat Metab. 2025 Apr;7(4):855. doi: 10.1038/s42255-025-01292-z. PMID: 40186076], [RefSeq, PubMed]; Molecular modelling of novel ADCY3 variant predicts a molecular target for tackling obesity., [RefSeq, PubMed]; Postnatal Dynamic Ciliary ARL13B and ADCY3 Localization in the Mouse Brain. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]", "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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KT86;Q53T54;Q9UDB1", "ec_number_list": [ { "id": "4.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.1", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.7.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.85", "type": "external" } ], "go_molecular_function": "GO:0004016 adenylate cyclase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016829 lyase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0016020 membrane", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0006171 cAMP biosynthetic process;GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 37.4, "record_id": "O60266-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04075-1", "uniprot_id": [ { "id": "ALDOA_HUMAN", "url": "https://www.uniprot.org/uniprot/P04075", "type": "external" } ], "mass": 39420.0, "length": 364, "protein_name": "Fructose-bisphosphate aldolase A", "gene_name": "ALDOA", "organism": "Human", "refseq_name": "fructose-bisphosphate aldolase A isoform 1", "refseq_ac": [ { "id": "NP_001121089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121089", "type": "external" } ], "gene_names_uniprotkb": "ALDOA; ALDA", "gene_names_refseq": "ALDA; ALDOA; GSD12; HEL-S-87p", "protein_names_uniprotkb": "Fructose-bisphosphate aldolase A; 4.1.2.13; Lung cancer antigen NY-LU-1; Muscle-type aldolase", "protein_names_refseq": "aldolase A, fructose-bisphosphate; epididymis secretory sperm binding protein Li 87p; fructose-1,6-bisphosphate triosephosphate-lyase; fructose-bisphosphate aldolase A isoform 1; lung cancer antigen NY-LU-1; muscle-type aldolase", "tax_id": 9606, "disease": "glycogen storage disease XII (Disease Ontology:DOID:0061287); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)", "pathway": " (hsa:226); (R-HSA-114608); (R-HSA-6798695); (R-HSA-70171); (R-HSA-70263)", "pathway_count": 5, "publication_count": 279, "publication_id_list": "10048322;10229653;10358176;10714828;10958351;11237011;11371164;11506403;11780755;11782012;11851336;12093795;12437512;12616532;12665801;1278465;12965206;12965222;1353685;13538944;1435334;14615364;14630798;14654843;14718531;14722102;14766013;14985449;15004565;15297306;15592455;15710582;16408927;16511037;17074750;17081983;17145369;17287340;17322306;17697703;17804405;18083107;18214967;18337460;183598;18449899;18452278;18510355;18613815;18669648;18702456;1871135;18767875;18910716;18910717;18927083;18991276;19118303;19413330;19608861;19615748;19651622;19664994;19690332;1999195;20058876;20068231;20166139;20305658;2056525;21081667;21406692;21908771;21949678;2204832;22219026;22223895;2229018;22322005;22424782;22544926;22905912;23168256;23186163;2335208;23446454;23481700;23506893;23640497;23650620;24029068;24129315;24275569;24366607;24397554;2462567;24714562;24715725;25114211;25418920;25502872;25505266;25576301;25645385;25648650;25802875;25880248;25892735;25992863;26154972;26375851;26728094;26758079;26992070;27543614;27600516;27726376;27846572;27862975;27920218;2793178;28218747;28228285;2825199;28446606;2846554;28467828;28514659;28649982;28832583;28834231;28904123;29192674;29242379;29317506;29331515;29393594;29437277;29493099;29508533;29557506;2960695;29632046;29632711;29769354;29775581;29786170;29789417;30192525;3030757;30315122;30397120;30410026;30429286;30484775;30517626;30524438;30573663;30620550;30626607;30779550;30833945;31020640;31092671;31154438;31217245;31222486;31492838;31530632;31611695;3170585;31717259;31844290;31848261;31937595;31998317;3208766;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33043033;33123756;33141586;33214551;33298915;33392160;3355497;33592498;33691108;33717175;3391172;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34211107;34357683;34405274;3441006;34433824;34509645;3453121;34561969;34725712;34782236;34932366;35051231;35083852;35132862;35138101;35154160;35251023;35254053;3529090;35318648;35561310;35580925;36010968;36215666;36241641;36284347;3674018;37217939;37938771;38244313;3840020;38665916;39254854;39990658;40596516;40914422;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6457647;6696436;6771269;7144574;7150652;7391027;7573034;7717389;7825568;7989588;8117307;8211187;8325892;8447317;8467233;8571957;8598869;8645161;8692836;8786021;9382095;9428641;9438414;9493266;9585002;9657976;9678974;9758626", "class_list": "glycogene", "function": "ALDOA coordinates PDE3A through the beta-catenin/ID3 axis to stimulate cancer metastasis and M2 polarization in lung cancer with EGFR mutations., [RefSeq, PubMed]; Catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate (FBP) into two triose phosphate and plays a key role in glycolysis and gluconeogenesis (PubMed:14766013). In addition, also functions as a scaffolding protein (By similarity). In response to glucose deprivation, FBP dissociates from aldolase and acts as an adapter that promotes AMP-activated protein kinase (AMPK) activity: mechanistically, associates with transient receptor potential channels TrpV (TRPV1-TRPV4), promoting inhibition of the V-ATPase complex on lysosomes and AMPK activation via the AXIN1-STK11/LKB1 axis (By similarity)., [UniProtKB, PubMed, UniProtKB]; LncRNA ACVR2B-as1 interacts with ALDOA to regulate the self-renewal and apoptosis of human spermatogonial stem cells by controlling glycolysis activity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 454, "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": "B4DXI7;Q6FH76;Q6FI10;Q96B15;Q9BWD9;Q9UCN2", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "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", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.3.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.13", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "2.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.7", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "1.11.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.7", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "1.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.5", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "2.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.9", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0008092 cytoskeletal protein binding", "go_cellular_component": "GO:0061827 sperm head;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0007015 actin filament organization;GO:0007339 binding of sperm to zona pellucida;GO:0046716 muscle cell cellular homeostasis;GO:0051289 protein homotetramerization;GO:0006754 ATP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 28.3, "record_id": "P04075-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05062-1", "uniprot_id": [ { "id": "ALDOB_HUMAN", "url": "https://www.uniprot.org/uniprot/P05062", "type": "external" } ], "mass": 39473.0, "length": 364, "protein_name": "Fructose-bisphosphate aldolase B", "gene_name": "ALDOB", "organism": "Human", "refseq_name": "fructose-bisphosphate aldolase B", "refseq_ac": [ { "id": "NP_000026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000026", "type": "external" } ], "gene_names_uniprotkb": "ALDOB; ALDB", "gene_names_refseq": "ALDB; ALDO2; ALDOB", "protein_names_uniprotkb": "Fructose-bisphosphate aldolase B; 4.1.2.13; Liver-type aldolase", "protein_names_refseq": "aldolase 2; aldolase B, fructose-bisphosphatase; aldolase B, fructose-bisphosphate; fructose-bisphosphate aldolase B; liver-type aldolase", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); peritonitis (Disease Ontology:DOID:8283); liver benign neoplasm (Disease Ontology:DOID:916); type 2 diabetes mellitus (Disease Ontology:DOID:9352); hereditary fructose intolerance syndrome (Disease Ontology:DOID:9869)", "pathway": " (hsa:229); (R-HSA-5657560); (R-HSA-70171); (R-HSA-70263); (R-HSA-70350)", "pathway_count": 5, "publication_count": 180, "publication_id_list": "10024431;10229653;10625657;10714828;10970798;11237011;11371164;11506403;11679716;11757579;11780755;11851336;12093795;12205126;12437512;12464284;12616532;1278465;12941785;12965206;12965222;13093749;13538944;14718531;14722102;15532022;15710582;15733923;15880727;16266770;16289032;16511037;16753811;17804405;18000879;18337460;183598;18449899;18491316;18541450;1856829;18613815;1871135;18910716;18910717;18927083;19118303;19237742;19562805;19664994;1967768;20033295;20166139;20841500;20848650;20949620;21136679;21949678;2203259;22098443;22219026;22371574;23168256;2336380;2339710;23444097;23446454;23506893;2410860;24275569;24289155;24569995;2462567;2537226;25637246;25648650;2623136;26374642;2649152;26992070;27862975;2793178;2830249;2846554;28514659;28832583;2889861;29242379;29393594;29508533;29557506;2960695;29769354;3016456;30192525;30315122;30517626;31154438;31530632;3170585;31844290;3208766;32157095;32488085;32897882;32938616;32983136;33298915;3355497;33592498;33717175;3383242;33912179;33968037;34019948;34087483;34357683;34509645;3453121;34782236;34932366;35051231;35122041;3529090;35318648;35561310;35580925;36010968;36284347;37597521;37743645;37816733;38778508;39068380;4413246;4555506;4688871;4827367;5009693;5353106;5687724;5777313;6434534;6444721;6451249;6548561;6585824;6689266;6696436;6771269;7144574;7150652;7391027;7573034;7717389;7825568;7833921;7989588;805723;8071980;8096362;8117307;8162030;8211187;8299883;8325892;8447317;8535439;8571957;8645161;8786021;9382095;9428641;9438414;9493266;9585002;9610797;9657976;9678974;9758626", "class_list": "glycogene", "function": "Aldolase B-driven lactagenesis and CEACAM6 activation promote cell renewal and chemoresistance in colorectal cancer through the Warburg effect. Publication Status: Online-Only, [RefSeq, PubMed]; Associations between ALDOB polymorphisms and intrahepatic cholestasis of pregnancy susceptibility in the Chinese Han population., [RefSeq, PubMed]; Catalyzes the aldol cleavage of fructose 1,6-biphosphate to form two triosephosphates dihydroxyacetone phosphate and D-glyceraldehyde 3-phosphate in glycolysis as well as the reverse stereospecific aldol addition reaction in gluconeogenesis. In fructolysis, metabolizes fructose 1-phosphate derived from the phosphorylation of dietary fructose by fructokinase into dihydroxyacetone phosphate and D-glyceraldehyde (PubMed:10970798, PubMed:12205126, PubMed:20848650). Acts as an adapter independently of its enzymatic activity, exerts a tumor suppressor role by stabilizing the ternary complex with G6PD and TP53 to inhibit G6PD activity and keep oxidative pentose phosphate metabolism in check (PubMed:35122041)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Fructose-1, 6-Bisphosphate Aldolase B Suppresses Glycolysis and Tumor Progression of Gastric Cancer., [RefSeq, PubMed]; Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008]., [RefSeq]; MRTO4 Enhances Glycolysis to Facilitate HCC Progression by Inhibiting ALDOB. Publication Status: Online-Only, [RefSeq, PubMed]; Metabolic classification suggests the GLUT1/ALDOB/G6PD axis as a therapeutic target in chemotherapy-resistant pancreatic cancer., [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": 12, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 661, "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": "Q13741;Q13742;Q5T7D6", "ec_number_list": [ { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" } ], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0051117 ATPase binding;GO:0008092 cytoskeletal protein binding;GO:0004332 fructose-bisphosphate aldolase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005815 microtubule organizing center;GO:0034451 centriolar satellite", "go_biological_process": "GO:0006094 gluconeogenesis;GO:0061624 fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate;GO:0006000 fructose metabolic process;GO:0006096 glycolytic process;GO:0030388 fructose 1,6-bisphosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "P05062-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06727-1", "uniprot_id": [ { "id": "APOA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P06727", "type": "external" } ], "mass": 45372.0, "length": 396, "protein_name": "Apolipoprotein A-IV", "gene_name": "APOA4", "organism": "Human", "refseq_name": "apolipoprotein A-IV precursor", "refseq_ac": [ { "id": "NP_000473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000473", "type": "external" } ], "gene_names_uniprotkb": "APOA4", "gene_names_refseq": "ADTKD6; APOA4", "protein_names_uniprotkb": "Apolipoprotein A-IV; Apo-AIV; ApoA-IV; Apolipoprotein A4", "protein_names_refseq": "apo-AIV; apoA-IV; apolipoprotein A-IV precursor; apolipoprotein A-IV", "tax_id": 9606, "disease": "chronic pancreatitis (Disease Ontology:DOID:0051065); colitis (Disease Ontology:DOID:0060180); autosomal dominant tubulointerstitial kidney disease 6 (Disease Ontology:DOID:0061121); graft-versus-host disease (Disease Ontology:DOID:0081267); Alzheimer's disease (Disease Ontology:DOID:10652); Guillain-Barre syndrome (Disease Ontology:DOID:12842); Huntington's disease (Disease Ontology:DOID:12858); cardiovascular system disease (Disease Ontology:DOID:1287); polyneuropathy (Disease Ontology:DOID:1389); major depressive disorder (Disease Ontology:DOID:1470); glaucoma (Disease Ontology:DOID:1686); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); retinal detachment (Disease Ontology:DOID:5327); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); Leber hereditary optic neuropathy (Disease Ontology:DOID:705); rheumatoid arthritis (Disease Ontology:DOID:7148); chronic kidney disease (Disease Ontology:DOID:784); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); intermediate coronary syndrome (Disease Ontology:DOID:8805); diabetic retinopathy (Disease Ontology:DOID:8947); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719)", "pathway": " (hsa:337); (R-HSA-8963888); (R-HSA-8963889); (R-HSA-8963901); (R-HSA-975634); (R-HSA-977225)", "pathway_count": 6, "publication_count": 181, "publication_id_list": "10.1021/acs.analchem.6b02887;10052934;10097139;10319874;10391210;10391242;10411933;10583407;10769148;10900462;10956649;11060341;11181758;11274389;11278841;11401442;11467836;11590439;118839;12454989;12518019;12692552;1270801;1279089;1301939;1349197;14506261;14567678;14732096;1487136;15064394;15108119;15284087;15358783;1542003;15583000;15800215;15962837;16109723;16174740;16200213;1677358;16799559;16939223;17088546;1737067;17425515;17525477;17644776;17883852;17994020;17997385;18065497;18070888;18087047;18295589;1837051;18449172;18460466;1848237;18484335;1849145;18507396;1856611;19011241;19014918;19117535;19139408;19304573;19361614;19658395;1973689;19824718;19828817;20356926;20581395;2065039;20676056;20807650;21081667;21106934;2118650;21666694;21719679;21844202;21851338;2195544;22065755;22131221;22262056;22569073;22579246;22740495;23020258;23150577;2351649;23813966;2409350;24106281;24397894;24833601;24893886;24909692;24960069;25387803;25523424;26018760;26417681;26668317;26686862;26807092;26933753;26934567;26934667;27452731;2793848;279930;28035807;28228285;2900981;2930771;29632711;29789417;3035556;3036793;30397120;3053705;3080432;3080684;3094007;3095836;3142462;31848261;32157095;32983136;33968037;34171305;35051231;35251023;36284347;36614113;3675579;36775868;37092549;3714052;3755616;38096951;38643717;3942763;4345202;5057882;5675424;6420172;6706947;6961410;7592670;7683668;7728150;8017323;8020465;8033412;8097946;8114934;8159701;8300609;8384721;8464497;8485124;8490014;8626595;8728311;8870004;8956036;9006323;9054935;9136889;9379936;9862427;9888420;9920938;9925661", "class_list": "", "function": "Apolipoprotein A-IV Has Bi-Functional Actions in Alcoholic Hepatitis by Regulating Hepatocyte Injury and Immune Cell Infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; Apolipoprotein A-IV of diabetic-foot patients upregulates tumor necrosis factor alpha expression in microfluidic arterial models., [RefSeq, PubMed]; Apolipoprotein A-IV polymorphisms Q360H and T347S attenuate its endogenous inhibition of thrombosis., [RefSeq, PubMed]; Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]., [RefSeq]; Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis., [RefSeq, PubMed]; May have a role in chylomicrons and VLDL secretion and catabolism. Required for efficient activation of lipoprotein lipase by ApoC-II; potent activator of LCAT. Apoa-IV is a major component of HDL and chylomicrons., [UniProtKB]; The distinct metabolism between large and small HDL indicates unique origins of human apolipoprotein A4. 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, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 24, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MSL6;Q14CW8;Q6Q787", "ec_number_list": [], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005543 phospholipid binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol", "go_biological_process": "GO:0006869 lipid transport;GO:0008203 cholesterol metabolic process;GO:0010898 positive regulation of triglyceride catabolic process;GO:0033700 phospholipid efflux;GO:0042157 lipoprotein metabolic process", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "P06727-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07327-1", "uniprot_id": [ { "id": "ADH1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P07327", "type": "external" } ], "mass": 39859.0, "length": 375, "protein_name": "Alcohol dehydrogenase 1A", "gene_name": "ADH1A", "organism": "Human", "refseq_name": "alcohol dehydrogenase 1A", "refseq_ac": [ { "id": "NP_000658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000658", "type": "external" } ], "gene_names_uniprotkb": "ADH1A; ADH1", "gene_names_refseq": "ADH1A; ADH1", "protein_names_uniprotkb": "Alcohol dehydrogenase 1A; 1.1.1.1; Alcohol dehydrogenase subunit alpha", "protein_names_refseq": "ADH, alpha subunit; alcohol dehydrogenase 1 (class I), alpha polypeptide; alcohol dehydrogenase 1A; alcohol dehydrogenase subunit alpha; aldehyde reductase", "tax_id": 9606, "disease": "", "pathway": " (hsa:124); (R-HSA-2161541); (R-HSA-5365859); (R-HSA-71384)", "pathway_count": 4, "publication_count": 72, "publication_id_list": "10329026;10369264;10441588;10631996;10697413;10839978;10843999;11007799;11245473;11274460;12036956;12226107;12399160;12680773;1383219;14532297;14596915;15449945;16788062;17405878;1755855;18039331;18196;18805086;1889753;1985938;20166139;20616185;20801113;21529158;21621639;21755941;21851338;22019272;224930;23220587;2347582;2549385;26992070;270680;2738060;27397612;28228285;2848805;28870918;2920825;29248712;2935875;29557506;29739065;3013304;31002879;31222486;31844290;32387766;3278908;33298915;3365377;34742856;36010968;4065146;427099;4504607;4748759;6395883;8074657;8493914;9145876;9228021;9677409;9705317;9982", "class_list": "", "function": "Alcohol dehydrogenase (PubMed:2738060). Oxidizes primary as well as secondary alcohols. Ethanol is a very poor substrate (PubMed:2738060)., [UniProtKB, PubMed]; Contrary to consensus, oxidation of ethanol by human alcohol dehydrogenase (ADH) 1A is activated by ATP., [RefSeq, PubMed]; High ADH expression is associated with Prostate Cancer., [RefSeq, PubMed]; The activity of total alcohol dehydrogenase (ADH) and class I isoenzymes in the sera of autoimmune hepatitis patients is increased and aldehyde dehydrogenase (ALDH) levels were unchanged., [RefSeq, PubMed]; This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010]., [RefSeq]; Variation of ADH1A was significantly associated with blood acetaldehyde concentrations, which may contribute to slow alcohol metabolism and result in increased blood acetaldehyde levels in Korean subjects., [RefSeq, PubMed]; We demonstrated for the first time that rs1154402C>G change in in intron 1 of ADH5 might create a silencer, repressing ADH1A transcription via long-range interaction with ADH1A promoter, [RefSeq, 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, "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": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K3E3;Q17R68", "ec_number_list": [ { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" }, { "id": "1.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.1", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.284", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.284", "type": "external" }, { "id": "1.1.1.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.66", "type": "external" } ], "go_molecular_function": "GO:0004022 alcohol dehydrogenase (NAD+) activity;GO:0008270 zinc ion binding;GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:1990362 butanol dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006066 alcohol metabolic process;GO:0042572 retinol metabolic process;GO:0042573 retinoic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "P07327-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10415-1", "uniprot_id": [ { "id": "BCL2_HUMAN", "url": "https://www.uniprot.org/uniprot/P10415", "type": "external" } ], "mass": 26266.0, "length": 239, "protein_name": "Apoptosis regulator Bcl-2", "gene_name": "BCL2", "organism": "Human", "refseq_name": "apoptosis regulator Bcl-2 isoform alpha", "refseq_ac": [ { "id": "NP_000624", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000624", "type": "external" } ], "gene_names_uniprotkb": "BCL2", "gene_names_refseq": "BCL2; Bcl-2; PPP1R50", "protein_names_uniprotkb": "Apoptosis regulator Bcl-2", "protein_names_refseq": "B-cell CLL/lymphoma 2; apoptosis regulator Bcl-2 isoform alpha; protein phosphatase 1, regulatory subunit 50", "tax_id": 9606, "disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); follicular lymphoma (Disease Ontology:DOID:0050873); ductal carcinoma in situ (Disease Ontology:DOID:0060074); brain glioma (Disease Ontology:DOID:0060108); oligomeganephronia (Disease Ontology:DOID:0111142); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); intracranial aneurysm (Disease Ontology:DOID:10941); urinary bladder cancer (Disease Ontology:DOID:11054); osteoporosis (Disease Ontology:DOID:11476); polycystic ovary syndrome (Disease Ontology:DOID:11612); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); leiomyoma (Disease Ontology:DOID:127); Huntington's disease (Disease Ontology:DOID:12858); dilated cardiomyopathy (Disease Ontology:DOID:12930); dementia (Disease Ontology:DOID:1307); abdominal obesity-metabolic syndrome 1 (Disease Ontology:DOID:14221); glaucoma (Disease Ontology:DOID:1686); squamous cell carcinoma (Disease Ontology:DOID:1749); status epilepticus (Disease Ontology:DOID:1824); impotence (Disease Ontology:DOID:1875); melanoma (Disease Ontology:DOID:1909); atherosclerosis (Disease Ontology:DOID:1936); post-traumatic stress disorder (Disease Ontology:DOID:2055); colon cancer (Disease Ontology:DOID:219); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); colon adenocarcinoma (Disease Ontology:DOID:234); morphine dependence (Disease Ontology:DOID:2560); transitional cell carcinoma (Disease Ontology:DOID:2671); bilirubin metabolic disorder (Disease Ontology:DOID:2741); endometriosis (Disease Ontology:DOID:289); acute kidney failure (Disease Ontology:DOID:3021); middle cerebral artery infarction (Disease Ontology:DOID:3525); plasmacytoma (Disease Ontology:DOID:3721); renal cell carcinoma (Disease Ontology:DOID:4450); allergic rhinitis (Disease Ontology:DOID:4481); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); esophagus adenocarcinoma (Disease Ontology:DOID:4914); intestinal disease (Disease Ontology:DOID:5295); lung small cell carcinoma (Disease Ontology:DOID:5409); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); osteoarthritis (Disease Ontology:DOID:8398); retinal degeneration (Disease Ontology:DOID:8466); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); acute myeloid leukemia (Disease Ontology:DOID:9119); nasopharynx carcinoma (Disease Ontology:DOID:9261); priapism (Disease Ontology:DOID:9286); type 2 diabetes mellitus (Disease Ontology:DOID:9352); oral mucosa leukoplakia (Disease Ontology:DOID:9655); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:596); (R-HSA-111447); (R-HSA-111453); (R-HSA-6785807); (R-HSA-844455); (R-HSA-9018519); (R-HSA-9634638); (R-HSA-9818030); (R-HSA-9824594)", "pathway_count": 9, "publication_count": 479, "publication_id_list": "10023775;10097113;10102273;10195903;10198631;10219247;10359585;10369418;10400650;10500157;10510379;10542244;10567572;10586089;10669763;10675481;10677502;10766756;10807576;10828826;10831586;10867011;10873660;10949026;11010967;11034064;11056537;11058569;11084045;11103799;11104795;11120780;11136970;11145955;11158204;11165043;11237011;11243864;11248023;11278437;11278729;11323415;11326318;11345900;11356008;11368354;11404481;11410592;11452016;11463377;11463391;11463392;11546872;11581164;11682626;11697890;11726273;11726503;11774038;11875118;11889117;11960372;11988758;12039864;12070310;12086014;12093740;12168105;12223527;12242343;12421819;12498683;12600988;12612073;12624108;12657644;12814430;12832402;12901880;12904306;12959972;1339299;14517609;14631847;14634100;14675539;14712222;14744763;15001666;15016329;15026553;1508712;15090535;15102520;15116091;15210690;15213601;15225643;15261459;15276198;15282324;15291360;15314172;15343269;15345050;15507434;15514030;15547950;15564374;15584925;15660102;15703383;15705661;15733859;15800030;15805299;15849194;15869882;15876860;15897899;15902208;15950906;15986123;16007214;16009131;16046058;16048438;16087863;16107692;16113099;16162358;16199154;16205632;16213739;16219908;16236134;16243795;1630819;16397018;16451196;16510571;16540365;16606674;16632641;16714293;16820582;16835357;16912206;16980581;17013392;17090549;17172851;17256834;17277772;17342096;17349957;17418785;17427945;17458857;17463000;17495528;17510434;17561354;17572495;17610064;17637753;17666587;17690249;18187655;18201741;18219272;18243101;18256232;18309326;18322535;18327259;18353781;18358809;18367648;18391968;18447642;18451170;18463240;18476782;18501396;18533032;18570871;18591385;18596739;18603276;18644974;18663430;18762174;18785877;18805503;18845789;19001364;19020303;19029119;19098913;19117992;19124156;19185846;19228691;19259124;19274700;19275204;19295514;19321454;19336399;19383337;19397496;19545597;19706769;19718048;19866475;20005259;20157251;20219941;20220130;20388787;20493732;20498280;20570965;20628156;20633548;20682797;20849813;20889974;21102457;21106759;21151129;21252155;21358617;21364631;21445275;21573489;21689689;21726807;21730069;21747713;21778226;2181374;21835891;21878914;21934649;21937440;21940756;21949582;21993018;21994466;22046235;22056668;22130129;22205702;22265404;22275372;22383755;22492511;2250705;22545144;22629368;22647378;22693070;22704330;22851691;23055042;23086340;23124025;23145106;23172665;23172872;23192763;23193206;23272207;23275004;23277286;23291630;23300615;23303788;23382857;23403292;23431138;23435229;23455323;23481700;23555662;23558901;23566222;23638364;23707954;23723241;23822101;23906331;23967200;24013665;24039841;24097101;24097825;24166139;24167369;24346116;24371278;24463449;24495391;24594224;24626299;24677263;24735615;24743777;24854081;24885040;24921206;24973012;24998469;25082878;25090918;25142731;25181458;25204017;25231749;25234944;25296600;25300800;25365482;25418920;25433557;25446991;25505266;25542856;25609812;25633194;25663755;25674852;25728767;25732194;25791820;25826088;25829774;25908963;25922916;26056233;26153859;26154972;26198300;26204489;26252351;26279144;26430964;26462610;26479350;26544184;26609913;26689988;26992070;27049723;27062924;27121078;27483435;27557932;27588483;27661108;27886276;27935869;28012964;28035139;28333141;2834197;28539435;28731137;2875799;28845524;28904123;29020630;29050237;2919170;29391599;29433359;29435156;29437277;29493099;29557506;29561307;29899843;30273361;30315122;30410026;3045126;30599894;30804224;31206022;31217245;31601269;31601785;31671654;31844290;31906029;31998317;32097085;32157095;32322210;32387766;3281094;3285301;32897882;32929329;32943617;33075109;33245769;33456577;33633747;33717175;33916908;33936100;3498214;35013120;35051231;35183115;3523487;35580925;35874702;3677090;38928449;39048751;39286979;39455656;7510216;7512451;7529288;7559524;7588619;7795521;7796300;7834748;7889942;7898939;7907877;7935485;7937828;8085155;8183370;8195246;8197458;8245441;8386592;8419924;8602263;8621622;8635462;8663118;8668165;8668206;8797861;8816495;8876171;9013879;9042862;9199319;9201922;9264403;9305631;9312139;9338790;9388265;9395403;9448290;9537257;9563469;9611253;9651359;9671459;9723655;9731700;9735392;9736340;9738012;9806836;9822675;9874564", "class_list": "", "function": "BCL-2 and BOK regulate apoptosis by interaction of their C-terminal transmembrane domains., [RefSeq, PubMed]; BCL2 expression is enriched in advanced prostate cancer with features of lineage plasticity. Publication Status: Online-Only, [RefSeq, PubMed]; Bcl-2 Up-Regulation Mediates Taxane Resistance Downstream of APC Loss. Publication Status: Online-Only, [RefSeq, PubMed]; ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells (PubMed:1508712, PubMed:8183370). Regulates cell death by controlling the mitochondrial membrane permeability (PubMed:11368354). Appears to function in a feedback loop system with caspases (PubMed:11368354). Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1) (PubMed:11368354). Also acts as an inhibitor of autophagy: interacts with BECN1 and AMBRA1 during non-starvation conditions and inhibits their autophagy function (PubMed:18570871, PubMed:20889974, PubMed:21358617). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [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": 28, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "diagnostic", "glycan_count": 0, "disease_count": 58, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JHD5;P10416;Q13842;Q16197", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0002020 protease binding;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0030307 positive regulation of cell growth;GO:0035094 response to nicotine;GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 48.0, "record_id": "P10415-1", "record_type": "protein", "filter_code": "1000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25100-1", "uniprot_id": [ { "id": "ADA1D_HUMAN", "url": "https://www.uniprot.org/uniprot/P25100", "type": "external" } ], "mass": 60463.0, "length": 572, "protein_name": "Alpha-1D adrenergic receptor", "gene_name": "ADRA1D", "organism": "Human", "refseq_name": "alpha-1D adrenergic receptor", "refseq_ac": [ { "id": "NP_000669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000669", "type": "external" } ], "gene_names_uniprotkb": "ADRA1D; ADRA1A", "gene_names_refseq": "ADRA1A; ADRA1D; ADRA1R; ADRA1; ALPHA1; DAR; dJ779E11.2", "protein_names_uniprotkb": "Alpha-1D adrenergic receptor; Alpha-1A adrenergic receptor; Alpha-1D adrenoceptor; Alpha-1D adrenoreceptor; Alpha-adrenergic receptor 1a", "protein_names_refseq": "adrenergic, alpha -1D-, receptor; adrenergic, alpha-1A-, receptor; alpha-1A adrenergic receptor; alpha-1D adrenergic receptor; alpha-1D adrenoceptor; alpha-1D adrenoreceptor; alpha-adrenergic receptor 1a", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); polycystic ovary syndrome (Disease Ontology:DOID:11612); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:146); (R-HSA-390696); (R-HSA-416476); (R-HSA-416482)", "pathway_count": 4, "publication_count": 83, "publication_id_list": "10191087;10215710;10321720;10531390;10567430;10727532;10861009;11015615;11283606;11294240;11313914;11742120;11753430;12101119;12106601;12120503;12123608;12428542;12433842;12515866;1328250;15655528;15699075;15749160;15951850;16182515;16212495;16268778;16339447;16362076;16480771;1656955;16754659;16923326;17052695;18374420;18434541;18515384;18577758;18936096;1905813;19212140;1980236;20871122;21118696;2172775;22661716;23148172;24890609;25414122;25645385;2570461;26460884;27072905;27965369;2823383;2825170;28400472;2841328;30007591;3025863;30419287;30429286;3086311;32085899;32350295;35051231;37571902;7746284;7815325;7937899;8024574;8183249;8396931;8564227;8617235;8664309;8816443;9305846;9308960;9605427;9770463;9796816", "class_list": "", "function": "Alpha-1 adrenergic receptors are G protein-coupled receptors for catecholamines that signal through the G(q) family of G proteins, including G(q) and G(11). Upon activation, they stimulate the phosphatidylinositol-calcium second messenger pathway, leading to calcium release from intracellular stores and activation of protein kinase C (PubMed:7746284). ADRA1D binds the catecholamine ligands norepinephrine and epinephrine (PubMed:7815325, PubMed:8024574, PubMed:8183249)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008]., [RefSeq]; Characterization of heteromeric complexes between chemokine (C-X-C motif) receptor 4 and alpha1-adrenergic receptors utilizing intermolecular bioluminescence resonance energy transfer assays., [RefSeq, PubMed]; Functional Involvement of ADRA1D in Cutaneous Melanoma Progression and Angiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; N-glycosylation of alpha1D-adrenergic receptor N-terminal domain is required for correct trafficking, function, and biogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; The roles of adrenoceptor alpha 1D phosphorylation sites/clusters were investigated. Carboxyl terminus phosphorylation seems to control receptor's membrane localization. Intracellular loop 3 mutation caused agonist-induced sustained ERK1/2 activation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "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": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9NPY0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004937 alpha1-adrenergic receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "P25100-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35858-1", "uniprot_id": [ { "id": "ALS_HUMAN", "url": "https://www.uniprot.org/uniprot/P35858", "type": "external" } ], "mass": 66035.0, "length": 605, "protein_name": "Insulin-like growth factor-binding protein complex acid labile subunit", "gene_name": "IGFALS", "organism": "Human", "refseq_name": "insulin-like growth factor-binding protein complex acid labile subunit isoform 1 precursor", "refseq_ac": [ { "id": "NP_001139478", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139478", "type": "external" } ], "gene_names_uniprotkb": "IGFALS; ALS", "gene_names_refseq": "ACLSD; ALS; IGFALS", "protein_names_uniprotkb": "Insulin-like growth factor-binding protein complex acid labile subunit; ALS", "protein_names_refseq": "insulin-like growth factor binding protein complex acid labile chain; insulin-like growth factor-binding protein complex acid labile subunit isoform 1 precursor; insulin-like growth factor-binding protein complex acid labile subunit", "tax_id": 9606, "disease": "isolated growth hormone deficiency (Disease Ontology:DOID:0060870); congenital disorder of glycosylation Ia (Disease Ontology:DOID:0080552); nephrotic syndrome (Disease Ontology:DOID:1184); Noonan syndrome (Disease Ontology:DOID:3490); anorexia nervosa (Disease Ontology:DOID:8689); short stature due to primary acid-labile subunit deficiency (MONDO:MONDO:0014420)", "pathway": " (hsa:3483); (R-HSA-381426)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10026136;10077652;10218588;10512690;10614670;10650966;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1379671;1383255;14762184;15126567;15308688;15469690;15485880;15525596;15642270;16335952;16507628;17047378;17249697;17312271;17726072;17985932;18303074;19129715;19159218;20389102;21396577;23488611;2473065;2476804;2479552;25645385;26091039;28249955;28389567;29391424;29632711;29741879;30459171;31834863;33592498;33664485;34238413;35051231;35907924;37074911;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion., [UniProtKB]; Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature., [RefSeq, PubMed]; Previously characterized disease-causing mutations in IGF2, IGF1R, IGF2R, or IGFALS all were found in the general population but with allele frequencies of <1:30,000. Erratum:[J Biol Chem. 2017 Dec 1;292(48):19608. doi: 10.1074/jbc.AAC117.000854. PMID: 29196571], [RefSeq, PubMed]; The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]., [RefSeq]; To the known phenotype of ACLSD (i.e. short stature, reduced serum levels of IGF-I and ALS, extremely low serum IGFBP-3 and disturbed ternary complex formation), the study adds reduced birth weight, head circumference and serum IGF-II., [RefSeq, PubMed]; Virus-inducible IGFALS facilitates innate immune responses by mediating IRAK1 and TRAF6 activation., [RefSeq, PubMed]; [Liver Tissue-specific Genes IGFALS,CYP3A4,SLC22A1 and CYP2E1 May be Associated with Poor Prognosis of Liver Cancer]., [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": 5, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 17, "disease_count": 6, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DZY8;E9PGU3", "ec_number_list": [], "go_molecular_function": "GO:0005520 insulin-like growth factor binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0042567 insulin-like growth factor ternary complex", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P35858-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49189-1", "uniprot_id": [ { "id": "AL9A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P49189", "type": "external" } ], "mass": 53802.0, "length": 494, "protein_name": "4-trimethylaminobutyraldehyde dehydrogenase", "gene_name": "ALDH9A1", "organism": "Human", "refseq_name": "4-trimethylaminobutyraldehyde dehydrogenase isoform 1 precursor", "refseq_ac": [ { "id": "NP_000687", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000687", "type": "external" } ], "gene_names_uniprotkb": "ALDH9A1; ALDH4; ALDH7; ALDH9", "gene_names_refseq": "ALDH4; ALDH7; ALDH9A1; ALDH9; E3; TMABA-DH; TMABADH; TMABALDH", "protein_names_uniprotkb": "4-trimethylaminobutyraldehyde dehydrogenase; 1.2.1.19; 1.2.1.3; 1.2.1.46; 1.2.1.47; Aldehyde dehydrogenase E3 isozyme; Aldehyde dehydrogenase family 9 member A1; Formaldehyde dehydrogenase; Gamma-aminobutyraldehyde dehydrogenase; R-aminobutyraldehyde dehydrogenase; TMABA-DH; TMABALDH", "protein_names_refseq": "4-trimethylaminobutyraldehyde dehydrogenase isoform 1 precursor; 4-trimethylaminobutyraldehyde dehydrogenase; R-aminobutyraldehyde dehydrogenase; aldehyde dehydrogenase (NAD+); aldehyde dehydrogenase E3 isozyme; aldehyde dehydrogenase family 9 member A1; formaldehyde dehydrogenase; gamma-aminobutyraldehyde dehydrogenase", "tax_id": 9606, "disease": "", "pathway": " (hsa:223); (R-HSA-71262)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10702312;11431483;11802770;15754339;1799975;19608861;20599753;2071588;20877624;22223895;23481700;24715725;25576301;25892735;26010099;26375851;26758079;26853435;26992070;27846572;27920218;28063628;28228285;28467828;28832583;29242379;2925663;29393594;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30397120;30429286;30573663;30914451;3110140;31154438;31217245;31844290;31848261;32119511;32157095;32350084;32357974;32387766;32938616;32983136;33298915;33592498;33936100;33968037;33981976;34229054;34509645;34725712;35051231;35138101;35154160;35251023;35580925;36010968;36215666;36241641;38665916;39039052;40914422;6497835;6795186;8269919;8645224;8786138;9753662", "class_list": "", "function": "Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine with high efficiency (in vitro). Can catalyze the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction, but with low efficiency. Catalyzes the oxidation of aldehydes arising from biogenic amines and polyamines., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; N6-methyladenosine-modified ALDH9A1 modulates lipid accumulation and tumor progression in clear cell renal cell carcinoma through the NPM1/IQGAP2/AKT signaling pathway. Erratum:[Cell Death Dis. 2024 Aug 29;15(8):635. doi: 10.1038/s41419-024-07019-4. PMID: 39209846] Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Structural comparison reveals a position and a fold of the inter-domain linker of ALDH9A1 never observed in any other ALDH so far. Publication Status: Online-Only, [RefSeq, PubMed]; TMABA-DH colocalized with myosin light chains in cardiac myocytes. Publication Status: Online-Only, [RefSeq, PubMed]; This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "B2R6X1;B4DXY7;B9EKV4;Q5VV90;Q6LCL1;Q9NZT7", "ec_number_list": [ { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.2.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.19", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "1.2.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.47", "type": "external" }, { "id": "1.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.46", "type": "external" }, { "id": "1.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.31", "type": "external" }, { "id": "1.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.8", "type": "external" }, { "id": "1.2.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.94", "type": "external" } ], "go_molecular_function": "GO:0018467 formaldehyde dehydrogenase (NAD+) activity;GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0019145 aminobutyraldehyde dehydrogenase (NAD+) activity;GO:0047105 4-trimethylammoniobutyraldehyde dehydrogenase activity;GO:0036094 small molecule binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0006081 aldehyde metabolic process;GO:0045329 carnitine biosynthetic process;GO:0042429 serotonin catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P49189-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53365-1", "uniprot_id": [ { "id": "ARFP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P53365", "type": "external" } ], "mass": 37856.0, "length": 341, "protein_name": "Arfaptin-2", "gene_name": "ARFIP2", "organism": "Human", "refseq_name": "arfaptin-2 isoform 3", "refseq_ac": [ { "id": "NP_001229784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229784", "type": "external" } ], "gene_names_uniprotkb": "ARFIP2; POR1", "gene_names_refseq": "ARFIP2; POR1", "protein_names_uniprotkb": "Arfaptin-2; ADP-ribosylation factor-interacting protein 2; POR1; Partner of RAC1", "protein_names_refseq": "ADP ribosylation factor interacting protein 2; arfaptin-2 isoform 3; partner of RAC1 (arfaptin 2)", "tax_id": 9606, "disease": "", "pathway": " (hsa:23647); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 144, "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;15654769;15758030;15809304;15870108;15878329;16042553;16129887;16571679;16885419;16912714;16936697;17451557;17488291;17562788;17684057;17698061;18195106;18212344;18243103;18256213;18367545;18664496;18946081;19164740;19490898;19620288;20068231;20685960;21183348;21239483;21421921;21436057;21689688;21807881;22335553;22354037;22544926;22581368;22679020;22717455;22981988;23091056;23186163;23301498;23437303;23481700;24715725;24794632;25343031;25576301;25645385;26154972;26296658;26375851;26507660;26992070;27600516;27846572;27920218;28228285;28514659;28832583;28834231;29242379;29393594;29557506;29786170;30524438;30833945;30917996;31154438;31204568;31222486;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33773106;33837886;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35251023;35561310;35580925;36010968;38302034;7909812;8221884;8440258;8620540;8636227;8670882;9038142;9050864;9177194;9230071;9590177", "class_list": "", "function": "Circular RNA circ-ARFIP2 regulates proliferation, migration and invasion in human vascular smooth muscle cells via miR-338-3p-dependent modulation of KDR., [RefSeq, PubMed]; Deciphering the immunological and prognostic features of hepatocellular carcinoma through ADP-ribosylation-related genes analysis and identify potential therapeutic target ARFIP2., [RefSeq, PubMed]; Plays a role in constitutive metalloproteinase (MMP) secretion from the trans Golgi network (PubMed:26507660). May have important functions during vesicle biogenesis at certain cargo subdomains, which could be predominantly utilized by secreted MMPs, such as MMP7 and MMP2 (PubMed:26507660). Also involved in autophagy by regulating the starvation-dependent trafficking of ATG9A vesicles which deliver the phosphatidylinositol 4-kinase beta (PI4KB) to the autophagosome initiation site (PubMed:30917996, PubMed:31204568). Involved in phagophore growth during mitophagy by regulating ATG9A trafficking to mitochondria (PubMed:33773106). In addition, plays a role in NF-kappa-B inhibition by interacting with IKBKB and IKBKG (PubMed:26296658)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 5, "reported_mutagensis": 1, "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": "B4DX86;B4E306;D3DQT5", "ec_number_list": [], "go_molecular_function": "GO:0005525 GTP binding;GO:0005543 phospholipid binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0030036 actin cytoskeleton organization;GO:0007264 small GTPase-mediated signal transduction;GO:0030032 lamellipodium assembly;GO:0034497 protein localization to phagophore assembly site", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "P53365-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53367-1", "uniprot_id": [ { "id": "ARFP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P53367", "type": "external" } ], "mass": 41738.0, "length": 373, "protein_name": "Arfaptin-1", "gene_name": "ARFIP1", "organism": "Human", "refseq_name": "arfaptin-1 isoform 2", "refseq_ac": [ { "id": "NP_001020764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020764", "type": "external" } ], "gene_names_uniprotkb": "ARFIP1", "gene_names_refseq": "ARFIP1; HSU52521", "protein_names_uniprotkb": "Arfaptin-1; ADP-ribosylation factor-interacting protein 1", "protein_names_refseq": "ADP ribosylation factor interacting protein 1; arfaptin-1 isoform 2; arfaptin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27236)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "10413101;12606037;17322306;18669648;18707149;18767875;19413330;19651622;19690332;20068231;20166139;21239483;21406692;22981988;23186163;23271734;23481700;23695357;24275569;24714562;24715725;25576301;25645385;26154972;26728094;26992070;27600516;27862975;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30429286;30484775;30833945;30917996;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34509645;35051231;35154160;35251023;35580925;36010968;36241641;36284347;37938771;9038142", "class_list": "", "function": "Inhibits ADP-ribosylation factor-dependent matrix metalloproteinase-9 secretion induced by phorbol ester in fibrosarcoma cells, [RefSeq, PubMed]; Plays a role in controlling biogenesis of secretory granules at the trans-Golgi network (PubMed:22981988). Mechanistically, binds ARF-GTP at the neck of a growing secretory granule precursor and forms a protective scaffold (PubMed:22981988, PubMed:9038142). Once the granule precursor has been completely loaded, active PRKD1 phosphorylates ARFIP1 and releases it from ARFs (PubMed:22981988). In turn, ARFs induce fission (PubMed:22981988). Through this mechanism, ensures proper secretory granule formation at the Golgi of pancreatic beta cells (PubMed:22981988)., [UniProtKB, PubMed, 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": 13, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "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": "B4DS69;Q2M2X4;Q3SYL4;Q9Y2X6", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0019904 protein domain specific binding;GO:0070273 phosphatidylinositol-4-phosphate binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:1905280 negative regulation of retrograde transport, endosome to Golgi;GO:0006886 intracellular protein transport;GO:0050708 regulation of protein secretion;GO:0034315 regulation of Arp2/3 complex-mediated actin nucleation", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P53367-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55197-4", "uniprot_id": [ { "id": "AF10_HUMAN", "url": "https://www.uniprot.org/uniprot/P55197", "type": "external" } ], "mass": 113320.0, "length": 1068, "protein_name": "Protein AF-10", "gene_name": "MLLT10", "organism": "Human", "refseq_name": "protein AF-10 isoform c", "refseq_ac": [ { "id": "NP_001182555", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182555", "type": "external" } ], "gene_names_uniprotkb": "MLLT10; AF10", "gene_names_refseq": "AF10; MLLT10", "protein_names_uniprotkb": "Protein AF-10; ALL1-fused gene from chromosome 10 protein", "protein_names_refseq": "ALL1-fused gene from chromosome 10 protein; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); myeloid/lymphoid or mixed-lineage leukemia; protein AF-10 isoform c; translocated to, 10; type I AF10 protein; type III AF10 protein; type IV AF10 protein", "tax_id": 9606, "disease": "acute monocytic leukemia (Disease Ontology:DOID:8864); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:8028)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "10860745;11423977;11756182;11986236;15851025;17525332;17868029;18669648;20068230;23186163;25218447;25418920;25576301;25645385;25880248;26439302;26929215;26992070;27846572;28904123;29237092;29242379;29437277;29557506;30315122;30410026;30429286;31154438;31222486;31492838;31844290;31848261;32157095;32350084;32357974;32502341;32569758;32897882;32938616;32938750;32983136;33214551;33592498;33690798;33691108;33912179;33981976;34019948;34087483;34171305;34215314;34226546;34846842;34932366;35051231;35132862;35251023;35254053;35513511;35580925;36010968;36241641;36284347;38665916;39302247;39534244;40307207;7888665", "class_list": "", "function": "A JAK/STAT-mediated inflammatory signaling cascade drives oncogenesis in AF10-rearranged AML., [RefSeq, PubMed]; AF10 (MLLT10) prevents somatic cell reprogramming through regulation of DOT1L-mediated H3K79 methylation. Publication Status: Online-Only, [RefSeq, PubMed]; MLLT10 in benign and malignant hematopoiesis. Review article, [RefSeq, PubMed]; Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulates DOT1L functions including histone H3 'Lys-79' dimethylation (H3K79me2) and gene activation (PubMed:26439302)., [UniProtKB, PubMed, PubMed]; The role of the PZP domain of AF10 in acute leukemia driven by AF10 translocations. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]., [RefSeq]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B1ANA8;Q5JT37;Q5VX90;Q66K63", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042393 histone binding;GO:0031491 nucleosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006338 chromatin remodeling;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": 7.9, "record_id": "P55197-4", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12802-1", "uniprot_id": [ { "id": "AKP13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12802", "type": "external" } ], "mass": 307550.0, "length": 2813, "protein_name": "A-kinase anchor protein 13", "gene_name": "AKAP13", "organism": "Human", "refseq_name": "A-kinase anchor protein 13 isoform 4", "refseq_ac": [ { "id": "NP_001257475", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257475", "type": "external" } ], "gene_names_uniprotkb": "AKAP13; BRX; HT31; LBC", "gene_names_refseq": "AKAP-13; AKAP-Lbc; AKAP13; ARHGEF13; BRX; HA-3; Ht31; LBC; PRKA13; PROTO-LBC; PROTO-LB; c-lbc; p47", "protein_names_uniprotkb": "A-kinase anchor protein 13; AKAP-13; AKAP-Lbc; Breast cancer nuclear receptor-binding auxiliary protein; Guanine nucleotide exchange factor Lbc; Human thyroid-anchoring protein 31; LBC oncogene; Lymphoid blast crisis oncogene; Non-oncogenic Rho GTPase-specific GTP exchange factor; PRKA13; Protein kinase A-anchoring protein 13; p47", "protein_names_refseq": "A kinase (PRKA) anchor protein 13; A-kinase anchor protein 13 isoform 4; A-kinase anchor protein 13; LBC oncogene; breast cancer nuclear receptor-binding auxiliary protein; guanine nucleotide exchange factor Lbc; human thyroid-anchoring protein 31; lymphoid blast crisis oncogene; non-oncogenic Rho GTPase-specific GTP exchange factor; protein kinase A-anchoring protein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:11214); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)", "pathway_count": 6, "publication_count": 311, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11283606;11285229;11294240;11313914;11373293;11396949;11431473;11432776;11546812;11579095;11606631;11672528;11680691;11689693;11696353;11704860;11742120;11756498;11804589;11804590;11884391;11912491;12071859;12093360;12097334;12101119;12123608;12195014;12221077;12221096;12433842;12473120;12515866;12531887;12650940;12857875;12877655;14512443;14673001;15023524;15064355;15107133;15229649;15249197;15302923;15342493;15383279;15470142;15485661;15601624;15611138;15699075;15749160;15850391;15866170;15944396;15951850;16112081;16116428;16184169;1618839;16212495;16217026;16467373;16469733;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;16956908;16964243;17077126;17081983;17198702;17322306;17537920;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18374420;18452278;18577758;18669648;18691976;18707149;18767875;18802007;18829452;19212140;19413330;19494238;19605563;19635168;19651622;19664994;19664995;19673492;19690332;19713215;20030946;20058876;20068230;20068231;20101212;20112406;20400958;20591975;20628200;20660154;21102438;21148482;21224381;21351730;21373644;21406692;21454492;21565175;21576392;21699497;21757538;21865595;21936715;22096251;22298643;22305756;22661716;22673745;22790947;22911862;22992742;23090968;23186163;23200924;23255595;23434736;23481700;23572525;23716597;23870313;24086303;24128008;24129315;24259668;24275569;24335996;24352656;24366607;24714562;24715725;24933155;24993829;25186459;25211221;25414122;25425145;25505266;25576301;25589627;25645385;25673874;25704760;25880248;26154972;26371245;26375851;26529257;26811146;26887924;26992070;27072905;27145964;27216196;27397612;27481945;27600516;27846572;27869121;27920218;27986909;28063628;28112683;28196833;28228285;28584191;28832583;28834231;28855257;28904123;29146911;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30007591;30315122;30410026;30418433;31105010;31217245;31844290;31871319;32157095;32203420;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34185709;34211107;34405274;34433824;34509645;34561969;34932366;35051231;35318648;35560009;35561310;35580925;36010968;36284347;36401072;37938771;40914422;7479768;7673236;7721814;7753201;7937899;8021274;8290273;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9308960;9418861;9490638;9497316;9520479;9535835;9548756;9627117;9659915;9670022;9792683;9796816;9822605;9829970;9891067", "class_list": "", "function": "AKAP13 Enhances CREB1 Activation by FSH in Granulosa Cells., [RefSeq, PubMed]; Scaffold protein that plays an important role in assembling signaling complexes downstream of several types of G protein-coupled receptors. Activates RHOA in response to signaling via G protein-coupled receptors via its function as Rho guanine nucleotide exchange factor (PubMed:11546812, PubMed:15229649, PubMed:23090968, PubMed:24993829, PubMed:25186459). May also activate other Rho family members (PubMed:11546812). Part of a kinase signaling complex that links ADRA1A and ADRA1B adrenergic receptor signaling to the activation of downstream p38 MAP kinases, such as MAPK11 and MAPK14 (PubMed:17537920, PubMed:21224381, PubMed:23716597). Part of a signaling complex that links ADRA1B signaling to the activation of RHOA and IKBKB/IKKB, leading to increased NF-kappa-B transcriptional activity (PubMed:23090968). Part of a RHOA-dependent signaling cascade that mediates responses to lysophosphatidic acid (LPA), a signaling molecule that activates G protein-coupled receptors and potentiates transcriptional activation of the glucocorticoid receptor NR3C1 (PubMed:16469733). Part of a signaling cascade that stimulates MEF2C-dependent gene expression in response to lysophosphatidic acid (LPA) (By similarity). Part of a signaling pathway that activates MAPK11 and/or MAPK14 and leads to increased transcription activation of the estrogen receptors ESR1 and ESR2 (PubMed:11579095, PubMed:9627117). Part of a signaling cascade that links cAMP and EGFR signaling to BRAF signaling and to PKA-mediated phosphorylation of KSR1, leading to the activation of downstream MAP kinases, such as MAPK1 or MAPK3 (PubMed:21102438). Functions as a scaffold protein that anchors cAMP-dependent protein kinase (PKA) and PRKD1. This promotes activation of PRKD1, leading to increased phosphorylation of HDAC5 and ultimately cardiomyocyte hypertrophy (By similarity). Has no guanine nucleotide exchange activity on CDC42, Ras or Rac (PubMed:11546812). Required for normal embryonic heart development, and in particular for normal sarcomere formation in the developing cardiomyocytes (By similarity). Plays a role in cardiomyocyte growth and cardiac hypertrophy in response to activation of the beta-adrenergic receptor by phenylephrine or isoproterenol (PubMed:17537920, PubMed:23090968). Required for normal adaptive cardiac hypertrophy in response to pressure overload (PubMed:23716597). Plays a role in osteogenesis (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]., [RefSeq]; The role of Hippo pathway signaling and A-kinase anchoring protein 13 in primordial follicle activation and inhibition., [RefSeq, 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": 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": 57, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 66, "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": "Q14572;Q59FP6;Q86W90;Q8WXQ6;Q96JP6;Q96P79;Q9Y5T0;Q9Y5T6", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:0051018 protein kinase A binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005938 cell cortex;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007507 heart development;GO:0043410 positive regulation of MAPK cascade;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 31.4, "record_id": "Q12802-1", "record_type": "protein", "filter_code": "0000000.1100101.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13794-1", "uniprot_id": [ { "id": "APR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13794", "type": "external" } ], "mass": 6030.0, "length": 54, "protein_name": "Phorbol-12-myristate-13-acetate-induced protein 1", "gene_name": "PMAIP1", "organism": "Human", "refseq_name": "phorbol-12-myristate-13-acetate-induced protein 1 isoform 6", "refseq_ac": [ { "id": "NP_066950", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066950", "type": "external" } ], "gene_names_uniprotkb": "PMAIP1; NOXA", "gene_names_refseq": "APR; NOXA; PMAIP1", "protein_names_uniprotkb": "Phorbol-12-myristate-13-acetate-induced protein 1; Immediate-early-response protein APR; PMA-induced protein 1; Protein Noxa", "protein_names_refseq": "PMA-induced protein 1; adult T cell leukemia-derived PMA-responsive; immediate-early-response protein APR; phorbol-12-myristate-13-acetate-induced protein 1 isoform 6; protein Noxa", "tax_id": 9606, "disease": "", "pathway": " (hsa:5366); (R-HSA-111448); (R-HSA-111453); (R-HSA-6803204)", "pathway_count": 4, "publication_count": 102, "publication_id_list": "10195903;10198631;10513815;10807576;11030628;11463392;11511362;11546872;11684014;11875071;12402042;12606722;12624108;14684737;14729977;15104674;15126337;15273740;15607964;15694340;15705586;15735003;15944288;17256834;17308301;17349958;17374615;17389404;18309326;18451170;18591385;18617898;18630524;19377469;20112406;21145489;22334068;22424782;22766503;23291630;23365256;23481700;23563182;23684607;23931759;2398525;24346116;24366607;24715725;25080938;25418920;25469497;25576301;26071602;26154972;26411306;26811146;26992070;27110896;27846572;27920218;28063628;28228285;28467828;28832583;28904123;29242379;29393594;29493099;29508533;29632046;29632711;30315122;31217245;31844290;31937595;31998317;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33936100;33968037;34211107;34357683;34433824;34509645;34932366;35051231;35251023;37741850;38503887;38692009;7834748;7834749;9045906", "class_list": "", "function": "NOXA expression is downregulated in human breast cancer undergoing incomplete pathological response and senescence after neoadjuvant chemotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; Noxa inhibits oncogenesis through ZNF519 in gastric cancer and is suppressed by hsa-miR-200b-3p. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes activation of caspases and apoptosis. Promotes mitochondrial membrane changes and efflux of apoptogenic proteins from the mitochondria. Contributes to p53/TP53-dependent apoptosis after radiation exposure. Promotes proteasomal degradation of MCL1. Competes with BAK1 for binding to MCL1 and can displace BAK1 from its binding site on MCL1 (By similarity). Competes with BIM/BCL2L11 for binding to MCL1 and can displace BIM/BCL2L11 from its binding site on MCL1., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The mechanism of mitochondrial metabolic gene PMAIP1 involved in Alzheimer's disease process based on bioinformatics analysis and experimental validation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homology domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In response to death-inducing stimuli, BH3-only members inhibit the anti-apoptotic BCL-2 family members, which under steady-state conditions keep the multi-BH domain proteins BAX and BAK, in an inactive state. [provided by RefSeq, Aug 2020]., [RefSeq]; Two splicing variants of the human Noxa geneare identified, which consists of three exons and two introns. Alternative splicing of exon 2 yields three transcripts. Transcript-1 joins exons 1 and 3 to encode Noxa of 54 amino acids., [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": 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": 1, "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": "B2R4T7;Q8N589", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0051607 defense response to virus;GO:0006915 apoptotic process;GO:0071456 cellular response to hypoxia;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q13794-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16671-1", "uniprot_id": [ { "id": "AMHR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16671", "type": "external" } ], "mass": 62750.0, "length": 573, "protein_name": "Anti-Muellerian hormone type-2 receptor", "gene_name": "AMHR2", "organism": "Human", "refseq_name": "anti-Muellerian hormone type-2 receptor isoform 2 precursor", "refseq_ac": [ { "id": "NP_001158162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158162", "type": "external" } ], "gene_names_uniprotkb": "AMHR2; AMHR; MISR2", "gene_names_refseq": "AMHR2; AMHR; MISR2; MISRII; MRII", "protein_names_uniprotkb": "Anti-Muellerian hormone type-2 receptor; 2.7.11.30; AMH type II receptor; Anti-Muellerian hormone type II receptor; MIS type II receptor; MISRII; MRII", "protein_names_refseq": "AMH type II receptor; MIS type II receptor; Muellerian inhibiting substance type II receptor; Mullerian inhibiting substance type II receptor; anti-Muellerian hormone type II receptor; anti-Muellerian hormone type-2 receptor isoform 2 precursor; anti-Mullerian hormone receptor, type II", "tax_id": 9606, "disease": "persistent Mullerian duct syndrome (Disease Ontology:DOID:0050791); leiomyosarcoma (Disease Ontology:DOID:1967); dysgerminoma (Disease Ontology:DOID:4441)", "pathway": " (hsa:269); (R-HSA-201451)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10458166;10587654;10589763;10712517;11016919;11121043;11158580;11237011;11278251;11509558;11549681;11571290;11714695;11779505;12151385;12519765;12592392;12821673;12857866;14750901;16672363;17029022;17068149;17311849;17356069;17911401;32938616;34480531;34515230;35052499;35713750;7488027;7493017;7644468;7791754;8119126;8653785;8872466;8893010;9136927;9436979", "class_list": "", "function": "A novel mutation of AMHR2 in two brothers with persistent Mullerian duct syndrome and their intracytoplasmic sperm injection outcome., [RefSeq, PubMed]; AMH and AMHR2 Involvement in Congenital Disorders of Sex Development. Review article, [RefSeq, PubMed]; Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women., [RefSeq, PubMed]; Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Mullerian Duct Syndrome in Three Cases. 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 anti-Muellerian hormone., [UniProtKB]; This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "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": 1, "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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0AVE1;B9EGB7;E9PGD2;F8W1D2;Q13762;Q647K2", "ec_number_list": [ { "id": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0042562 hormone binding;GO:0005024 transforming growth factor beta receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0016020 membrane", "go_biological_process": "GO:0008584 male gonad development;GO:0071363 cellular response to growth factor stimulus;GO:0030509 BMP signaling pathway;GO:0001880 Mullerian duct regression;GO:0007548 sex differentiation", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q16671-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2TAA5-1", "uniprot_id": [ { "id": "ALG11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2TAA5", "type": "external" } ], "mass": 55651.0, "length": 492, "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "organism": "Human", "refseq_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "refseq_ac": [ { "id": "NP_001004127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004127", "type": "external" } ], "gene_names_uniprotkb": "ALG11; GT8", "gene_names_refseq": "ALG11; CDG1P; GT8", "protein_names_uniprotkb": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; 2.4.1.131; Asparagine-linked glycosylation protein 11 homolog; Glycolipid 2-alpha-mannosyltransferase", "protein_names_refseq": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase; asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog; asparagine-linked glycosylation protein 11 homolog; glycolipid 2-alpha-mannosyltransferase", "tax_id": 9606, "disease": "congenital disorder of glycosylation Ip (Disease Ontology:DOID:0080567)", "pathway": " (hsa:440138); (R-HSA-446193); (R-HSA-4551295)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10359825;10581255;10704531;11237011;11278778;11807558;11983712;12030331;12200473;12684507;12872255;14709599;14973778;14973782;15148656;15235028;15710750;15840742;15945070;16007612;16100110;16859551;16878994;18313027;18597486;19282279;20080937;22213132;22742743;23481700;25036826;25418920;25880248;26154972;26992070;27862975;28218747;28467828;28510447;28832583;28904123;29242379;29437277;29557506;30315122;30429286;30524438;30552024;30676690;30779550;31154438;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33912179;33968037;33981976;34087483;34171305;34357683;34509645;35051231;35154160;35251023;35561310;36010968;36241641;9451016;9597543", "class_list": "glycogene;glycosyltransferase", "function": "After identifying the congenital disorders of glycosylation-Ip index patient, study describe three more cases suffering from an ALG11 deficiency., [RefSeq, PubMed]; Deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation., [RefSeq, PubMed]; GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. Catalyzes, on the cytoplasmic face of the endoplasmic reticulum, the addition of the fourth and fifth mannose residues to the dolichol-linked oligosaccharide chain, to produce Man(5)GlcNAc(2)-PP-dolichol core oligosaccharide (PubMed:20080937). Man(5)GlcNAc(2)-PP-dolichol is a substrate for ALG3, the following enzyme in the biosynthetic pathway (PubMed:10581255)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Hence, we concluded that there is different transcriptional control mechanism between mALG11 and hALG11, [RefSeq, PubMed]; This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "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": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 608, "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": "A5PLP3;B4DKW9;Q5TAN9;Q6DKI6;Q96FI7", "ec_number_list": [ { "id": "2.4.1.131", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.131", "type": "external" } ], "go_molecular_function": "GO:0004377 GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity;GO:0000026 alpha-1,2-mannosyltransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006488 dolichol-linked oligosaccharide biosynthetic process;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 781, "hit_score": 8.2, "record_id": "Q2TAA5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100100000000.010.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VTM2-1", "uniprot_id": [ { "id": "AGAP9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VTM2", "type": "external" } ], "mass": 77972.0, "length": 703, "protein_name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9", "gene_name": "AGAP9", "organism": "Human", "refseq_name": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9", "refseq_ac": [ { "id": "NP_001177739", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177739", "type": "external" } ], "gene_names_uniprotkb": "AGAP9; CTGLF6", "gene_names_refseq": "AGAP-9; AGAP9; CTGLF6; bA301J7.2", "protein_names_uniprotkb": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9; AGAP-9; Centaurin-gamma-like family member 6", "protein_names_refseq": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9; centaurin-gamma-like family member 6", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:642517)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "28228285;28832583;29242379;29351928;31217245;32502341;33141586;35051231;38253038", "class_list": "", "function": "Putative GTPase-activating protein., [UniProtKB]", "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "D3YTF3", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q5VTM2-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6DCA0-1", "uniprot_id": [ { "id": "AMERL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6DCA0", "type": "external" } ], "mass": 34499.0, "length": 310, "protein_name": "AMMECR1-like protein", "gene_name": "AMMECR1L", "organism": "Human", "refseq_name": "AMMECR1-like protein isoform 1", "refseq_ac": [ { "id": "NP_001186069", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186069", "type": "external" } ], "gene_names_uniprotkb": "AMMECR1L", "gene_names_refseq": "AMMECR1L", "protein_names_uniprotkb": "AMMECR1-like protein", "protein_names_refseq": "AMME chromosomal region gene 1-like; AMMECR1-like protein isoform 1; AMMECR1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:83607)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18669648;19413330;19690332;23186163;25576301;26154972;27846572;28228285;28904123;30315122;30779550;31844290;31848261;32157095;32161166;32938616;33912179;33981976;34171305;34561969;36241641;38665916", "class_list": "", "function": "", "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": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4E276", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q6DCA0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NVV9-1", "uniprot_id": [ { "id": "ADAM5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NVV9", "type": "external" } ], "mass": 47181.0, "length": 412, "protein_name": "Putative disintegrin and metalloproteinase domain-containing protein 5", "gene_name": "ADAM5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ADAM5; ADAM5P; TMDC2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative disintegrin and metalloproteinase domain-containing protein 5; Putative transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein II; tMDC II", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "10417343;28411811;33392160;35051231", "class_list": "", "function": "This is a non catalytic metalloprotease-like protein., [UniProtKB, 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "A8MW71;Q4G196", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6NVV9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6Q788-1", "uniprot_id": [ { "id": "APOA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6Q788", "type": "external" } ], "mass": 41213.0, "length": 366, "protein_name": "Apolipoprotein A-V", "gene_name": "APOA5", "organism": "Human", "refseq_name": "apolipoprotein A-V precursor", "refseq_ac": [ { "id": "NP_001160070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001160070", "type": "external" } ], "gene_names_uniprotkb": "APOA5; PRO773; RAP3", "gene_names_refseq": "APOA5; APOAV; RAP3", "protein_names_uniprotkb": "Apolipoprotein A-V; Apo-AV; ApoA-V; Apolipoprotein A5; Regeneration-associated protein 3", "protein_names_refseq": "apo-AV; apolipoprotein A-V precursor; apolipoprotein A-V; regeneration-associated protein 3", "tax_id": 9606, "disease": "hyperlipoproteinemia type V (Disease Ontology:DOID:1171); hyperlipoproteinemia type IV (Disease Ontology:DOID:1172); hypothyroidism (Disease Ontology:DOID:1459); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:116519); (R-HSA-1989781); (R-HSA-381426); (R-HSA-8957275); (R-HSA-8963889); (R-HSA-8963901)", "pathway_count": 6, "publication_count": 152, "publication_id_list": "10.1038/emboj.2013.79;10026136;10077652;10218588;10512690;10614670;10681634;10777541;10810289;10898936;10900462;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11267664;11316783;11522292;11577099;11588264;11606061;11739083;11751371;11788658;12118000;12177166;12241545;12379487;12417270;12417524;12466191;12505311;12582161;12709436;1279089;12810533;12810715;12899628;12904166;12915450;12920097;12975309;1301939;1370451;1383255;15067378;15108119;15126567;15130092;15284087;15308688;15469690;15485880;15525596;15528295;15635043;15642270;15800215;16109723;16200213;16380219;16972786;17047378;17088546;17249697;17312271;17326667;17883852;17985932;17994020;17997385;18540824;18603531;18719978;18848529;19088433;19304573;19361614;19710929;19824718;19934321;20110263;20356926;20581395;21666694;21719679;21844202;22262056;22569073;22740495;23020258;23150577;23584533;24196956;24275569;24397894;2476804;2479552;24909692;24960069;25387803;26091039;26933753;26934567;26934667;29557506;31154438;32983136;33091337;35580925;37768328;38117614;38331899;38625441;39198834;3942763;5057882;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7592670;7683646;7685352;7689487;7892212;8020465;8300609;8485124;8647822;8728311;8781553;8817670;8894645;8964575;9012850;9136889;9379936;9497324;9709957;9733769;9748239;9786878;9922210", "class_list": "", "function": "An important determinant of plasma triglyceride levels, [RefSeq, PubMed]; Association of Apolipoprotein A5 Gene Variants with Hyperlipidemic Acute Pancreatitis in Southeastern China., [RefSeq, PubMed]; Genetic variation in apolipoprotein A-V in hypertriglyceridemia. Review article, [RefSeq, PubMed]; Genome-wide association study for metabolic syndrome reveals APOA5 single nucleotide polymorphisms with multilayered effects in Koreans. Publication Status: Online-Only, [RefSeq, PubMed]; Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and an inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate) (By similarity). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages. Binds heparin (PubMed:17326667)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Polymorphism in the apoAV gene influences serum TG in populations of different ethnicities GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Apo gene's genetic variants: hidden role in Asian vascular risk. Review article, [RefSeq, PubMed]; The pathogenic mutations of APOA5 in Chinese patients with hyperlipidemic acute pancreatitis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]., [RefSeq]; Two haplotypes are found in 25-50% of subjects, supporting the contribution of common variation to quantitative phenotypes. 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, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B0YIV9;Q3MIK6;Q6UWK9;Q9UBJ3", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0008201 heparin binding;GO:0019899 enzyme binding;GO:0050750 low-density lipoprotein particle receptor binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006641 triglyceride metabolic process;GO:0006869 lipid transport;GO:0008203 cholesterol metabolic process;GO:0010898 positive regulation of triglyceride catabolic process;GO:0033700 phospholipid efflux", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q6Q788-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6R9-1", "uniprot_id": [ { "id": "AP2D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6R9", "type": "external" } ], "mass": 49578.0, "length": 452, "protein_name": "Transcription factor AP-2-delta", "gene_name": "TFAP2D", "organism": "Human", "refseq_name": "transcription factor AP-2-delta", "refseq_ac": [ { "id": "NP_758438", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_758438", "type": "external" } ], "gene_names_uniprotkb": "TFAP2D; TFAP2BL1", "gene_names_refseq": "AP-2delta; TFAP2BL1; TFAP2D", "protein_names_uniprotkb": "Transcription factor AP-2-delta; AP2-delta; Activating enhancer-binding protein 2-delta; Transcription factor AP-2-beta-like 1", "protein_names_refseq": "AP-2 like; AP2-delta; activating enhancer binding protein 2 beta-like 1; activating enhancer-binding protein 2-delta; transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1; transcription factor AP-2 delta (activating enhancer binding protein 2 delta); transcription factor AP-2-beta-like 1; transcription factor AP-2-delta", "tax_id": 9606, "disease": "sleep disorder (Disease Ontology:DOID:535)", "pathway": " (hsa:83741); (R-HSA-8866904); (R-HSA-8866907)", "pathway_count": 3, "publication_count": 24, "publication_id_list": "11694877;11733187;11744733;12586840;15548692;16684505;16698963;16959974;19115315;1998122;2010091;23382213;23481700;24789576;26768311;28832583;30975199;31154438;31844290;31848261;32143573;35051231;35494241;36552887", "class_list": "", "function": "A polymorphic Alu in the flanking region of the TFAP2B and TFAP2D genes has been identified. The new insert was found in higher frequency in Europeans (0.4) and Asians (0.38) and lower frequency in Africans (0.25). Publication Status: Online-Only, [RefSeq, PubMed]; AP-2delta Is the Most Relevant Target of AP-2 Family-Focused Cancer Therapy and Affects Genome Organization. Publication Status: Online-Only, [RefSeq, PubMed]; Ap-2delta was identified as a new activating transcription factor of HMOX1., [RefSeq, PubMed]; Cloning and characterization of a novel human transcription factor AP-2 like gene (TFAP2BL1), which is located on human chromosome 6p12.1-21.1, [RefSeq, PubMed]; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC (By similarity)., [UniProtKB]; Taken together, these results suggest that AP-2epsilon and Ets-1 are involved in the regulation of integrin alpha10 transcription in chondrocytes., [RefSeq, PubMed]; Upregulation of the transcription factor TFAP2D is associated with aggressive tumor phenotype in prostate cancer lacking the TMPRSS2:ERG fusion. 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, "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": 10, "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": "Q8IWX0", "ec_number_list": [], "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_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0042127 regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q7Z6R9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TB3-1", "uniprot_id": [ { "id": "ALPK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TB3", "type": "external" } ], "mass": 237013.0, "length": 2170, "protein_name": "Alpha-protein kinase 2", "gene_name": "ALPK2", "organism": "Human", "refseq_name": "alpha-protein kinase 2", "refseq_ac": [ { "id": "NP_443179", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443179", "type": "external" } ], "gene_names_uniprotkb": "ALPK2; HAK", "gene_names_refseq": "ALPK2; HAK", "protein_names_uniprotkb": "Alpha-protein kinase 2; 2.7.11.1; Heart alpha-protein kinase", "protein_names_refseq": "alpha-protein kinase 2; heart alpha-kinase; heart alpha-protein kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:115701)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "10021370;17344846;19690890;22641666;23481700;24715725;25576301;25645385;27846572;27920218;28218747;28228285;28668886;28832583;29242379;29437277;29557506;29888752;30833945;31092671;31217245;31844290;31937595;32157095;32161166;32330508;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33592498;33705408;33912179;33981976;34171305;34210956;34211107;34561969;34705617;35051231;36010968;38253038", "class_list": "", "function": "A genomic variant of ALPK2 is associated with increased liver fibrosis risk in HIV/HCV coinfected women. Publication Status: Online-Only, [RefSeq, PubMed]; ALPK2 acts as tumor promotor in development of bladder cancer through targeting DEPDC1A. Publication Status: Online-Only, [RefSeq, PubMed]; ALPK2 is crucial for luminal apoptosis and expression of DNA repair-related genes, possibly in the transition of normal colonic crypt to adenoma., [RefSeq, PubMed]; Hsa_circ_0065217 promotes growth and metastasis of renal cancer through regulating the miR-214-3p-ALPK2 axis., [RefSeq, PubMed]; Knockdown of ALPK2 blocks development and progression of renal cell carcinoma., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Protein kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation (PubMed:10021370)., [UniProtKB, PubMed]; Results showed that p.Q1853E variant of ALPK2, which had been accumulating in the Japanese population, induced a metastatic phenotype of colorectal tumors by disrupting ALPK2 function., [RefSeq, 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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 72, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZUX0;Q8NAT5;Q96L95", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "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:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0003007 heart morphogenesis;GO:0042981 regulation of apoptotic process;GO:0055013 cardiac muscle cell development;GO:0010468 regulation of gene expression;GO:0030010 establishment of cell polarity", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q86TB3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZF6-1", "uniprot_id": [ { "id": "AGRG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZF6", "type": "external" } ], "mass": 333368.0, "length": 3080, "protein_name": "Adhesion G protein-coupled receptor G4", "gene_name": "ADGRG4", "organism": "Human", "refseq_name": "adhesion G-protein coupled receptor G4 precursor", "refseq_ac": [ { "id": "NP_722576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_722576", "type": "external" } ], "gene_names_uniprotkb": "ADGRG4; GPR112", "gene_names_refseq": "ADGRG4; GPR112; PGR17; RP1-299I16", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor G4; G protein-coupled receptor 112", "protein_names_refseq": "G protein-coupled receptor 112; adhesion G-protein coupled receptor G4 precursor; probable G-protein coupled receptor 112", "tax_id": 9606, "disease": "", "pathway": " (hsa:139378)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "12435584;12679517;18953328;24715725;25713288;26823453;27893789;28832583;29242379;29371260;29557506;30315122;30429286;31154438;31844290;32161166;32357974;32387766;32938616;32983136;33592498;33968037;35051231;35418677;35494241;37863265;38462741", "class_list": "", "function": "Exome sequencing identifies ADGRG4 G-protein-coupled receptors gene as a novel cancer biomarker in ovarian cancer patients from North India., [RefSeq, PubMed]; Orphan adhesion G protein-coupled receptor (aGPCR) (By similarity). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase (By similarity). ADGRG4 is coupled to G(s) G proteins and mediates activation of adenylate cyclase activity (PubMed:35418677). May be act as sensor of mechanical forces (PubMed:37863265)., [UniProtKB, PubMed, UniProtKB, PubMed]; The dimerized pentraxin-like domain of the adhesion G protein-coupled receptor 112 (ADGRG4) suggests function in sensing mechanical forces., [RefSeq, PubMed]; This gene encodes a G-protein coupled receptor belonging to a large family of diverse integral membrane proteins that participate in various physiological functions. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The ligand for this family member is unknown, and it is therefore an orphan receptor. This receptor is known to be expressed in normal enterochromaffin cells and in gastrointestinal neuroendocrine carcinoma cells, and it is therefore considered to be a novel biomarker or target for immunotherapy. [provided by RefSeq, May 2010]., [RefSeq]; This study described the structure-function relationship of adhesion G protein-coupled receptors (ADGRs) using ADGRGr as a model receptor., [RefSeq, PubMed]", "predicted_glycosites": 13, "predicted_n_glycosites": 8, "predicted_o_glycosites": 5, "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": 1, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 118, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A2A2J1;A2A2J2;Q5EGP2;Q86SM6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;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", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8IZF6-1", "record_type": "protein", "filter_code": "0000000.1100101.001000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4X5-1", "uniprot_id": [ { "id": "AF1L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4X5", "type": "external" } ], "mass": 91300.0, "length": 818, "protein_name": "Actin filament-associated protein 1-like 2", "gene_name": "AFAP1L2", "organism": "Human", "refseq_name": "actin filament-associated protein 1-like 2 isoform 1", "refseq_ac": [ { "id": "NP_001001936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001936", "type": "external" } ], "gene_names_uniprotkb": "AFAP1L2; KIAA1914; XB130", "gene_names_refseq": "AFAP1L2; CTB-1144G6.4; KIAA1914; XB130", "protein_names_uniprotkb": "Actin filament-associated protein 1-like 2; AFAP1-like protein 2", "protein_names_refseq": "AFAP1-like protein 2; CTB-1144G6.6; actin filament-associated protein 1-like 2 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84632)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;15951569;16385451;17016520;17412687;17924679;18083107;18844995;19060924;19664994;23481700;24715725;25505266;27600516;27846572;28228285;29242379;29351928;29557506;30379171;30784271;31154438;31219645;31844290;32157095;32159887;32983136;33968037;34780466;35051231;35580925;36284062;37729738;37938771;39531497", "class_list": "", "function": "Adaptor protein XB130 regulates the aggressiveness of cholangiocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; High XB130 expression in renal cell carcinoma is strongly associated with poor prognosis., [RefSeq, PubMed]; High XB130 expression is associated with proliferation and metastasis of non-small-cell lung cancer., [RefSeq, PubMed]; May play a role in a signaling cascade by enhancing the kinase activity of SRC. Contributes to SRC-regulated transcription activation., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Molecular mechanism of XB130 adaptor protein mediates trastuzumab resistance in gastric cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This study indicates that XB130 plays an important role in maintaining the epithelial-mesenchymal transition (EMT) and stem cell-like characteristics of breast cancer cells, supporting the significance of XB130 as a new potential therapeutic target for early diagnosis and prognosis of breast cancer., [RefSeq, 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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 24, "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": "A8K6P7;B3KVQ8;Q2UZW3;Q8TB54;Q96PX4;Q96SY5", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0042169 SH2 domain binding;GO:0030296 protein tyrosine kinase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006954 inflammatory response;GO:0007346 regulation of mitotic cell cycle;GO:0032675 regulation of interleukin-6 production;GO:0045893 positive regulation of DNA-templated transcription;GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8N4X5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFM4-1", "uniprot_id": [ { "id": "ADCY4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFM4", "type": "external" } ], "mass": 119794.0, "length": 1077, "protein_name": "Adenylate cyclase type 4", "gene_name": "ADCY4", "organism": "Human", "refseq_name": "adenylate cyclase type 4", "refseq_ac": [ { "id": "NP_001185497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185497", "type": "external" } ], "gene_names_uniprotkb": "ADCY4", "gene_names_refseq": "AC4; ADCY4", "protein_names_uniprotkb": "Adenylate cyclase type 4; 4.6.1.1; ATP pyrophosphate-lyase 4; Adenylate cyclase type IV; Adenylyl cyclase 4", "protein_names_refseq": "ATP pyrophosphate-lyase 4; adenylate cyclase type 4; adenylate cyclase type IV; adenylyl cyclase 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:196883); (R-HSA-163359); (R-HSA-163615); (R-HSA-164378); (R-HSA-170660); (R-HSA-170670); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-432040); (R-HSA-5610787); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-9856530)", "pathway_count": 15, "publication_count": 279, "publication_id_list": "10075700;10376603;10496952;10579907;10639123;10649434;10714768;10764742;10861086;10954748;10966113;11007482;11034202;11043579;11055432;11076974;11237011;11313909;11375483;11549699;11773440;11832410;11853546;11968001;12036966;12058044;12106601;12117970;12120503;12176338;12180353;12192414;12194985;12417718;12435627;12503609;12724311;12801959;12860470;1325798;1347957;13549488;1372004;1373524;14514735;14592814;14603322;14671004;14675202;14701836;15087129;1510932;15161916;1517224;15245432;15304325;1534149;15539556;15703994;15705806;15718470;15765929;15769620;15879134;15930098;15951850;16061793;16120822;16136078;16229832;16254602;16311594;16313925;16339192;16396903;16407073;16407156;16493421;1658606;16613843;16634148;16645038;16687412;16707575;16780920;16921024;16923326;17027958;17156409;17168849;17178220;17200122;17230639;17379646;17442700;17553904;17641202;17762891;17960137;18044684;18070890;18202181;18327258;18434541;18455992;18511455;18566127;18577758;18678926;18710921;18818202;18832070;19000668;19020623;19105585;19144687;19170255;19196978;19223390;19286674;19342448;19365551;19383790;1939224;19549984;19574955;19592253;19666503;19723632;19741198;19767740;19776033;19876791;19877275;19906846;19929708;19931550;19948480;19996169;20067783;20154143;20207148;20381629;20395968;20412786;20460306;20844016;20889716;20956384;21036126;21037092;2105456;21209331;21228062;2163110;21695114;21801010;21844907;22007132;22231273;22391300;22495674;22706990;23209152;23332756;23675550;23719536;23863937;2417744;24273487;24302888;24339784;24530924;24687066;24845016;24863049;24917297;2491850;24925320;24952464;24962572;2534964;2553411;2553705;26190834;26417854;26987903;27392633;2748346;27566546;27797339;2834384;28450397;28502923;28595943;2871555;29443750;29602314;2991279;3049610;30833991;3104109;31154438;31205027;3127824;31279028;31399091;31584294;31844290;31983287;32226383;32296767;32497535;32540603;32618402;32715661;33049737;34499618;35051231;35580925;36241641;4065330;6085243;7503232;7510718;7517665;7522622;7526388;7530449;7535000;7538665;7559455;7568118;7595566;7651538;7678419;7876172;7937899;8007951;8015379;8063828;8119955;8140421;8226994;8243272;8327893;8340388;8340414;8406495;8514797;8522976;8527267;8598224;8621513;8657103;8663304;8672451;8683474;8700127;8702633;8855281;8862523;9000504;9042338;9050880;9162098;9227644;9263355;9314552;9369468;9374639;9374640;9417641;9620797;9651336;9756892;9829975;9857068;9865521", "class_list": "", "function": "AC4 and AC2, both isoforms stimulated by Gbetagamma, are expressed in bronchial nonlipid raft membrane fractions where they colocalize with and couple to prostanoid EP2 receptors., [RefSeq, PubMed]; ADCY4 may be used as an epigenetic biomarker for breast cancer, as well as a possible target for therapy., [RefSeq, PubMed]; Catalyzes the formation of the signaling molecule cAMP in response to G protein signaling., [UniProtKB, UniProtKB]; This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]., [RefSeq]; This paper reports the presence of adenylyl cyclases 2, 3, and 4 in mouse olfactory cilia., [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": 0, "reported_glycation": 0, "reported_snv": 29, "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": "B3KV74;D3DS75;Q17R40;Q6ZTM6;Q96ML7", "ec_number_list": [ { "id": "4.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.1", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.7.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.85", "type": "external" } ], "go_molecular_function": "GO:0004016 adenylate cyclase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0005080 protein kinase C binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0006171 cAMP biosynthetic process;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0071377 cellular response to glucagon stimulus", "synthesized_glycan_count": 0, "hit_score": 28.0, "record_id": "Q8NFM4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCU4-1", "uniprot_id": [ { "id": "ALMS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCU4", "type": "external" } ], "mass": 461062.0, "length": 4168, "protein_name": "Centrosome-associated protein ALMS1", "gene_name": "ALMS1", "organism": "Human", "refseq_name": "centrosome-associated protein ALMS1 isoform 1", "refseq_ac": [ { "id": "NP_055935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055935", "type": "external" } ], "gene_names_uniprotkb": "ALMS1; KIAA0328", "gene_names_refseq": "ALMS1; ALSS", "protein_names_uniprotkb": "Centrosome-associated protein ALMS1; Alstrom syndrome protein 1", "protein_names_refseq": "Alstrom syndrome 1; Alstrom syndrome protein 1; centrosome-associated protein ALMS1 isoform 1; centrosome-associated protein ALMS1", "tax_id": 9606, "disease": "Alstrom syndrome (Disease Ontology:DOID:0050473); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7840); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 146, "publication_id_list": "10.1101/2023.09.13.557529;11076968;11237011;11941369;11941370;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;15855349;16357211;16462731;16890155;17574030;17646400;17719545;17954613;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19940019;20068231;20230748;20308558;20399632;20558667;20844083;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24275569;24469809;24982133;25047611;25313408;25532896;25576301;25892735;27600516;28218747;28228285;28832583;28834231;29242379;29351928;29493099;29508533;29557506;29632711;29769354;30059200;30315122;30379171;30429286;30620550;31154438;31217245;31373491;31492838;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32938750;33141586;33214551;33298915;33402344;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34185709;34932366;35051231;35132862;35251023;35254053;35494241;35513511;35580925;36010968;36241641;37541260;38253038;38428329;38497483;38546151;38665916;39302247;39531497;40136647;40307207;7769006;7790358;8838651", "class_list": "", "function": "CircALMS1 Alleviates Pulmonary Microvascular Endothelial Cell Dysfunction in Pulmonary Hypertension., [RefSeq, PubMed]; Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells., [UniProtKB, PubMed]; Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome., [RefSeq, PubMed]; Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome., [RefSeq, PubMed]; New variants of ALMS1 gene and familial Alstrom syndrome case series., [RefSeq, PubMed]; Overburden of rare ALMS1 deleterious variants in Chinese early-onset type 2 diabetes with severe insulin resistance., [RefSeq, PubMed]; This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "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": 2, "reported_o_glycosites_with_glycan": 51, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 51, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 51, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 160, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 56, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WZY3;Q53S05;Q580Q8;Q86VP9;Q9Y4G4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0005814 centriole", "go_biological_process": "GO:0016197 endosomal transport;GO:0051492 regulation of stress fiber assembly;GO:0046599 regulation of centriole replication;GO:0120162 positive regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "Q8TCU4-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TD30-1", "uniprot_id": [ { "id": "ALAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TD30", "type": "external" } ], "mass": 57904.0, "length": 523, "protein_name": "Alanine aminotransferase 2", "gene_name": "GPT2", "organism": "Human", "refseq_name": "alanine aminotransferase 2 isoform 2", "refseq_ac": [ { "id": "NP_001135938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135938", "type": "external" } ], "gene_names_uniprotkb": "GPT2; AAT2; ALT2", "gene_names_refseq": "ALT2; GPT 2; GPT2; MRT49; NEDSPM", "protein_names_uniprotkb": "Alanine aminotransferase 2; 2.6.1.2; ALT2; GPT 2; Glutamate pyruvate transaminase 2; Glutamic--alanine transaminase 2; Glutamic--pyruvic transaminase 2", "protein_names_refseq": "alanine aminotransferase 2 isoform 2; glutamate pyruvate transaminase 2; glutamic pyruvate transaminase (alanine aminotransferase) 2; glutamic pyruvate transaminase 2; glutamic--alanine transaminase 2", "tax_id": 9606, "disease": "neurodevelopmental disorder with spastic paraplegia and microcephaly (Disease Ontology:DOID:0070542); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); liver cancer (Disease Ontology:DOID:3571); amino acid metabolic disorder (Disease Ontology:DOID:9252); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:84706)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;11863375;17109502;17596883;19360321;24418603;25758935;29242379;29485866;29557506;31844290;32387766;32897882;32938616;33592498;34357683;35051231;35494241;35908744;36527113;36923530;37287397", "class_list": "", "function": "A clinical method for selective measurement of ALT1 and 2 in human plasma is described., [RefSeq, PubMed]; ATF4 silencing prevented the activating effect of histidinol and tunicamycin on ATF4 and ALT2 expression. Our findings point to ALT2 as an enzyme involved in the metabolic adaptation of the cell to stress, [RefSeq, PubMed]; Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Elevation of liver enzymes and hepatic insulin resistance as reflected by fasting insulin occur in the early stages of insulin resistance and highlight the central role of the liver in insulin resistance in the general population., [RefSeq, PubMed]; Exosomal GPT2 derived from triple-negative breast cancer cells promotes metastasis by activating BTRC., [RefSeq, PubMed]; Expression of GPT2 especially in muscle and fat, suggests a unique and previously unrecognized role of this gene product in glucose, amino acid, and fatty acid metabolism and homeostasis., [RefSeq, PubMed]; Loss of mitochondrial enzyme GPT2 causes early neurodegeneration in locus coeruleus., [RefSeq, PubMed]; Recessively inherited loss of function GPT2 mutations are a novel cause of intellectual disability., [RefSeq, PubMed]; SPTBN1 abrogates renal clear cell carcinoma progression via glycolysis reprogramming in a GPT2-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; The biliary IL-6 and TNF-alpha levels were positively correlated with serum DBIL, TBA and gamma-GT levels in infantile hepatitis syndrome subjects., [RefSeq, PubMed]; The delta subunit of the GABAA receptor is necessary for the GPT2-promoted breast cancer metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "Q8N9E2", "ec_number_list": [ { "id": "2.6.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.2", "type": "external" } ], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0004021 L-alanine:2-oxoglutarate aminotransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005737 cytoplasm", "go_biological_process": "GO:0006103 2-oxoglutarate metabolic process;GO:0042851 L-alanine metabolic process;GO:0042853 L-alanine catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8TD30-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WW43-1", "uniprot_id": [ { "id": "APH1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WW43", "type": "external" } ], "mass": 28460.0, "length": 257, "protein_name": "Gamma-secretase subunit APH-1B", "gene_name": "APH1B", "organism": "Human", "refseq_name": "gamma-secretase subunit APH-1B isoform 2", "refseq_ac": [ { "id": "NP_001139118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139118", "type": "external" } ], "gene_names_uniprotkb": "APH1B; PRO1328; PSFL", "gene_names_refseq": "APH-1B; APH1B; PRO1328; PSFL; TAAV688; aph-1beta", "protein_names_uniprotkb": "Gamma-secretase subunit APH-1B; APH-1b; Aph-1beta; Presenilin-stabilization factor-like", "protein_names_refseq": "APH1B gamma secretase subunit; anterior pharynx defective 1 homolog B; aph-1 homolog B, gamma-secretase subunit; gamma-secretase subunit APH-1B isoform 2; gamma-secretase subunit APH-1B", "tax_id": 9606, "disease": "coronary artery disease (Disease Ontology:DOID:3393)", "pathway": " (hsa:83464); (R-HSA-1251985); (R-HSA-193692); (R-HSA-205043); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-3928665); (R-HSA-9013507); (R-HSA-9013700); (R-HSA-9017802); (R-HSA-977225); (R-HSA-9839383)", "pathway_count": 14, "publication_count": 205, "publication_id_list": "10079256;10097139;10206645;10319874;10391242;10411933;10551863;10583407;10713164;10879540;10882063;10934472;10956649;10958687;10964718;11006133;11044625;11171333;11226752;11230166;11237011;11278841;11401442;11448999;11467836;11518718;11590439;11679632;11740940;11823422;11861489;118839;12050117;12209127;12297508;12354787;12391150;12454989;12530964;1270801;12740439;12807903;12843241;12913006;12973357;12975309;14506261;14567678;14567914;14960584;14980219;15023535;15064394;15107403;15351694;15533827;15534001;15546612;15569487;15574878;15652348;15701642;15760269;15823552;15824097;15829515;15848800;15962837;15965470;16061658;16093323;16174740;16252010;16284625;16511561;16530044;16630834;16738328;16773578;16799559;16912174;17003037;17018285;17028573;17114293;17401372;17425515;17428795;17646408;17646409;18043734;18065497;18070888;18077452;18237417;18296446;1837051;18374649;1840698;18418349;18449172;18469519;18484335;1849145;18628966;18653779;18700817;18713744;18824583;18824585;19000840;19011241;19047365;19151708;19208840;19524514;19567869;19596786;19640841;19658395;19726682;19828817;20156974;20496116;20676056;20807650;20972443;2118650;21632553;2195544;22065755;22131221;22162134;22658935;22658936;23230144;23813966;2409350;24308844;24829397;24833601;24842903;24893886;25125655;25356737;25523424;25740432;26018760;26417681;26668317;26686862;26807092;27608597;27920218;279930;28467828;28834231;28855257;28904123;2900981;29242379;29632046;29856954;29856955;3035556;3053705;3080684;3094007;31154438;3142462;3153318;31844290;31995180;32387766;33592498;33912179;34732252;35051231;3675579;7566092;7588063;803282;8033412;8097946;8114934;8159701;8313469;8464497;8490014;8870004;9006323;9054935;9207787;9207788;9244301;9315665;9384573;9462510;9590294;9604939;9620803;9651681;9694793;9819428;9862427", "class_list": "", "function": "Data show that presenilin 1 (PS1)/anterior-pharynx-defective protein 1 (Aph1b), presenilin 2 (PS2)/Aph1aL, PS2/Aph1aS and PS2/anterior pharynx defective 1 homolog B (Aph1b) gamma-secretase produced amyloid beta peptide (Abeta) with a higher Abeta42+Abeta43-to-Abeta40 (Abeta42(43)/Abeta40) ratio than the other gamma-secretases., [RefSeq, PubMed]; Dysregulated expression levels of APH1B in peripheral blood are associated with brain atrophy and amyloid-beta deposition in Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Negative evidence for a role of APH1B T27I variant in Alzheimer's disease., [RefSeq, PubMed]; Potential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors., [UniProtKB, UniProtKB, UniProtKB]; Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A., [UniProtKB, PubMed]; This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]., [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": 2, "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": "A8K589;Q564N3;Q6UWQ1;Q9H0S0", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0061133 endopeptidase activator activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0007220 Notch receptor processing;GO:0016485 protein processing;GO:0042987 amyloid precursor protein catabolic process;GO:0034205 amyloid-beta formation", "synthesized_glycan_count": 0, "hit_score": 20.6, "record_id": "Q8WW43-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92747-1", "uniprot_id": [ { "id": "ARC1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92747", "type": "external" } ], "mass": 41569.0, "length": 370, "protein_name": "Actin-related protein 2/3 complex subunit 1A", "gene_name": "ARPC1A", "organism": "Human", "refseq_name": "actin-related protein 2/3 complex subunit 1A isoform 1", "refseq_ac": [ { "id": "NP_006400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006400", "type": "external" } ], "gene_names_uniprotkb": "ARPC1A; SOP2L", "gene_names_refseq": "ARPC1A; Arc40; HEL-68; HEL-S-307; SOP2Hs; SOP2L", "protein_names_uniprotkb": "Actin-related protein 2/3 complex subunit 1A; SOP2-like protein", "protein_names_refseq": "SOP2-like protein; actin binding protein (Schizosaccharomyces pombe sop2-like); actin related protein 2/3 complex, subunit 1A, 41kDa; actin-related protein 2/3 complex subunit 1A isoform 1; epididymis luminal protein 68; epididymis secretory protein Li 307; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:10552); (R-HSA-2029482); (R-HSA-3928662); (R-HSA-5663213); (R-HSA-8856828); (R-HSA-9664422)", "pathway_count": 6, "publication_count": 252, "publication_id_list": "10219243;10496324;10535736;10542231;10559856;10559861;10559924;10559936;10625686;10724160;10766823;10781580;10878810;10995436;10995437;11058585;11082044;11134074;11157975;11231140;11231582;11237011;11239472;11276226;11278486;11329366;11340081;11470803;11516654;11517213;11532990;11553796;11577110;11580899;11747816;11804587;11829459;11854399;11877457;11877461;11889126;12055636;12057195;12105426;12189515;12213210;12213833;12235133;12447393;12546821;12702722;12743368;12847086;12952949;1314888;14555962;14581451;14617351;14622578;14622579;14676198;14988728;15040784;15252009;15260957;15318165;15339664;15378065;15452139;15502812;15502813;15548136;15649145;15657136;15703209;15721239;15802264;15895077;15916959;16103228;16215232;16262445;16298995;16326391;16410077;16516836;16546099;16641196;16702231;16707488;16798879;16880396;16880808;16903783;17018281;17035995;17072959;17158794;17188549;17202194;17308335;17440041;17494869;17512409;17540576;17548511;17609109;17681954;17762867;17765681;17978091;18070890;18093523;18388313;18391171;1847920;18790740;18981233;19092055;19287005;19296720;19458185;19536138;19553453;19575674;19603039;19696796;19713939;19741094;19776351;19809571;19955216;20033059;20059951;20068231;20211604;20231386;20428113;20448150;20826345;20946875;21037092;2115402;21187331;21278753;21316588;21419341;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;2201922;22099461;22233676;22484487;22505844;22815487;22863004;23297414;23301498;23536704;23675550;23823722;23861397;23891661;24130457;24186068;24366607;24581490;2474607;24789820;24966051;25107275;25303366;25341920;25576301;25645385;26042225;26403691;26992070;27600516;28218747;28228285;28832583;28834231;29242379;29557506;30315122;30429286;30779550;31154438;31222486;31530632;31844290;31848261;32130760;32157095;32357974;32387766;32488085;32938616;33141586;33298915;33537174;33592498;33968037;33981976;34087483;34171305;34211107;34229054;34357683;34405274;34509645;34725712;35051231;35318648;35580925;35871131;36010968;36215666;36284347;37074911;37938771;38665916;6146630;7478585;7848918;7877694;8524399;8552632;8809042;8978670;8986718;9092476;9100026;9427626;9428629;9600938;9635431;9705280;9736607;9799231;9843499;9883880;9885284", "class_list": "", "function": "ARPC1A is regulated by STAT3 to inhibit ferroptosis and promote prostate cancer progression., [RefSeq, PubMed]; Development and validation of hub genes for lymph node metastasis in patients with prostate cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probably functions as a component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks., [UniProtKB, PubMed]; This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D276;B4DLQ7;D6W5S1;Q7Z5U8;Q86WU5;Q8IXQ0", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0034314 Arp2/3 complex-mediated actin nucleation", "synthesized_glycan_count": 0, "hit_score": 25.8, "record_id": "Q92747-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43827-1", "uniprot_id": [ { "id": "ANGL7_HUMAN", "url": "https://www.uniprot.org/uniprot/O43827", "type": "external" } ], "mass": 40018.0, "length": 346, "protein_name": "Angiopoietin-related protein 7", "gene_name": "ANGPTL7", "organism": "Human", "refseq_name": "angiopoietin-related protein 7 precursor", "refseq_ac": [ { "id": "NP_066969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066969", "type": "external" } ], "gene_names_uniprotkb": "ANGPTL7; CDT6; PRO356", "gene_names_refseq": "ANGPTL7; AngX; CDT6; dJ647M16.1", "protein_names_uniprotkb": "Angiopoietin-related protein 7; Angiopoietin-like factor; Angiopoietin-like protein 7; Cornea-derived transcript 6 protein", "protein_names_refseq": "angiopoietin-like factor (CDT6); angiopoietin-like protein 7; angiopoietin-related protein 7 precursor; angiopoietin-related protein 7; cornea-derived transcript 6 protein", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:10218)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11426320;11682471;12975309;15340161;16541013;21199193;21697133;23090970;24190977;25622036;28904123;36192519;36853945;37220876;37319434;38497513;9727400", "class_list": "", "function": "ANGPTL7 and Its Role in IOP and Glaucoma., [RefSeq, PubMed]; ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma. Publication Status: Online-Only, [RefSeq, PubMed]; Has a role in the formation and organization of the extracellular matrix. In the eye, it functions as a mediator of dexamethasone-induced matrix deposition in the trabecular meshwork, the tissue responsible for the outflow of the ocular aqueous humor and for the maintenance of intraocular pressure (PubMed:21199193). Is a negative regulator of angiogenesis in the cornea, and plays a major role in maintaining corneal avascularity and transparency (PubMed:25622036)., [UniProtKB, PubMed, PubMed]; Metastasis from the tumor interior and necrotic core formation are regulated by breast cancer-derived angiopoietin-like 7., [RefSeq, PubMed]; Rare protective variants and glaucoma-relevant cell stressors modulate Angiopoietin-like 7 expression., [RefSeq, PubMed]; The non-cell-autonomous function of ID1 promotes AML progression via ANGPTL7 from the microenvironment., [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": 4, "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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R9B2;F1T0A6;Q4ZGK4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0007596 blood coagulation;GO:1903053 regulation of extracellular matrix organization;GO:1901346 negative regulation of vasculature development involved in avascular cornea development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "O43827-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62330-1", "uniprot_id": [ { "id": "ARF6_HUMAN", "url": "https://www.uniprot.org/uniprot/P62330", "type": "external" } ], "mass": 20082.0, "length": 175, "protein_name": "ADP-ribosylation factor 6", "gene_name": "ARF6", "organism": "Human", "refseq_name": "ADP-ribosylation factor 6", "refseq_ac": [ { "id": "NP_001654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001654", "type": "external" } ], "gene_names_uniprotkb": "ARF6", "gene_names_refseq": "ARF6", "protein_names_uniprotkb": "ADP-ribosylation factor 6; 3.6.5.2", "protein_names_refseq": "ADP ribosylation factor 6; ADP-ribosylation factor 6", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:382); (R-HSA-8854214); (R-HSA-8856828); (R-HSA-8875656)", "pathway_count": 4, "publication_count": 227, "publication_id_list": "10202141;10535736;10542231;10559856;10559861;10559924;10625686;10766823;10881192;11062263;11082044;11231140;11237011;11239472;11266366;11470803;11516654;11517213;11532990;11577110;11877457;11877461;11889126;11950392;12057195;12213833;12447393;12847086;12952949;14555962;14581451;14617351;14622578;14622579;14659046;14978216;15252009;15260957;15318165;15339664;15502812;15502813;15509780;15642342;15649145;15703209;15793564;15802264;15895077;15916959;16055087;16099990;16103228;16148947;16215232;16326391;16395330;16410077;16516836;16707488;16737952;16798879;16839550;16880396;16903783;17018281;17030804;17035995;17158794;17398095;17494869;17512409;17540576;17555535;17609109;17628206;17658474;17681954;17762867;17765681;17901050;17978091;18093523;18199687;18319245;18388313;18400762;18466115;1847920;18790740;18981233;18991276;19092055;19287005;19296720;19458185;19536138;19575674;19603039;19644450;19696796;19713939;19776351;19809571;1993656;19948740;20033059;20059951;20095038;20116244;20211604;20231386;20363736;20404108;20428113;20448150;20510928;20682791;20727515;20826345;20946875;2115402;21170023;21187331;21278753;21316588;21383079;21445324;21458671;21482805;21499258;21613550;21664574;21779028;21841790;21883765;21927000;21927001;21951725;21962517;22099461;22219378;22233676;22484487;22505844;22613832;22762500;22795129;22815487;22854040;22863004;22939626;23019362;23297414;23536704;23562278;23603394;23823722;23861397;23891661;23940353;24130457;24186068;24581490;24715725;24789820;24966051;25107275;25255805;25303366;25341920;25576301;26042225;26154972;26403691;26992070;28467828;28904123;29437277;29493099;29557506;30429286;31844290;32004315;32103017;32157095;32350084;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33936100;33968037;34087483;34171305;34211107;34357683;35051231;35251023;35318648;36010968;36017701;36241641;36250347;37217939;37417384;37461827;38071109;38663699;38801885;6146630;7589240;7877694;8524399;8552632;9092476;9100026;9427626;9428629;9635431;9653160;9736607", "class_list": "", "function": "(Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase., [UniProtKB, PubMed]; (Microbial infection) Plays a key role in the endocytosis of enterovirus 71 and thus viral entry into brain microvascular endothelial cells., [UniProtKB, PubMed]; ARF6 promotes Streptococcus suis suilysin induced apoptosis in HBMECs., [RefSeq, PubMed]; CD24 promotes metastasis and chemoresistance by directly targeting Arf6-ERK pathway in esophageal squamous cell carcinoma., [RefSeq, PubMed]; GTP-binding protein involved in protein trafficking that regulates endocytic recycling and cytoskeleton remodeling (PubMed:11266366, PubMed:16737952, PubMed:18400762, PubMed:21170023, PubMed:32103017, PubMed:7589240). GTP-bound form plays an important role in the transport of multiple palmitoylated proteins form the Golgi to the plasma membrane (PubMed:37461827). Required for normal completion of mitotic cytokinesis (By similarity). Plays a role in the reorganization of the actin cytoskeleton and the formation of stress fibers (By similarity). Involved in the regulation of dendritic spine development, contributing to the regulation of dendritic branching and filopodia extension (PubMed:14978216). Potentiates the neurite outgrowth in primary neurons by interacting with the molecular adapter APBB1 (PubMed:36250347). Plays an important role in membrane trafficking, during junctional remodeling and epithelial polarization (PubMed:36017701). Regulates surface levels of adherens junction proteins such as CDH1 (By similarity). Required for NTRK1 sorting to the recycling pathway from early endosomes (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; HUNK inhibits cargo uptake and lysosomal traffic in the caveolar pathway via the AGAP3/ARF6., [RefSeq, PubMed]; This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [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, "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": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 0, "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": "P26438;Q6FGZ2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "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.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0031996 thioesterase binding;GO:0035591 signaling adaptor activity;GO:0019003 GDP binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:1903438 positive regulation of mitotic cytokinetic process;GO:0006886 intracellular protein transport;GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0010976 positive regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 23.0, "record_id": "P62330-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08519-1", "uniprot_id": [ { "id": "APOA_HUMAN", "url": "https://www.uniprot.org/uniprot/P08519", "type": "external" } ], "mass": 226546.0, "length": 2040, "protein_name": "Apolipoprotein(a)", "gene_name": "LPA", "organism": "Human", "refseq_name": "apolipoprotein(a) precursor", "refseq_ac": [ { "id": "NP_005568", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005568", "type": "external" } ], "gene_names_uniprotkb": "LPA", "gene_names_refseq": "AK38; APOA; LPA; LP", "protein_names_uniprotkb": "Apolipoprotein(a); 3.4.21.-; Apo(a); Lp(a)", "protein_names_refseq": "antiangiogenic AK38 protein; apo(a); apolipoprotein(a) precursor; apolipoprotein(a); lipoprotein, Lp(a); lp(a)", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); Alzheimer's disease (Disease Ontology:DOID:10652); carotid stenosis (Disease Ontology:DOID:13001); gout (Disease Ontology:DOID:13189); atherosclerosis (Disease Ontology:DOID:1936); familial Mediterranean fever (Disease Ontology:DOID:2987); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); myocardial infarction (Disease Ontology:DOID:5844); rheumatoid arthritis (Disease Ontology:DOID:7148); retinal artery occlusion (Disease Ontology:DOID:8483); vascular dementia (Disease Ontology:DOID:8725); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:4018); (R-HSA-8964041)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "11294842;17215532;17237796;17339654;19008531;22363685;2530631;2531657;2833496;29391424;30459171;3670400;38301917;38722118;39018040;39449055;39456811;6619141;7848387;7918682;8642595;9548923;9880564", "class_list": "", "function": "Apo(a) is the main constituent of lipoprotein(a) (Lp(a)). It has serine proteinase activity and is able of autoproteolysis. Inhibits tissue-type plasminogen activator 1. Lp(a) may be a ligand for megalin/Gp 330., [UniProtKB, PubMed]; Association between lipoprotein (a) and risk of heart failure: A systematic review and meta-analysis of Mendelian randomization studies., [RefSeq, PubMed]; Confounding Factors Responsible for Elevated Lp(a) Levels in Patients with Coronary Artery Disease., [RefSeq, PubMed]; Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. Publication Status: Online-Only, [RefSeq, PubMed]; Lipoprotein (a) as a Cardiovascular Risk Factor in Controversial Clinical Scenarios: A Narrative Review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Lipoprotein(a) and Long-Term Plaque Progression, Low-Density Plaque, and Pericoronary Inflammation. Erratum:[JAMA Cardiol. 2024 Sep 1;9(9):861. doi: 10.1001/jamacardio.2024.3130. PMID: 39259261], [RefSeq, PubMed]; The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009]., [RefSeq]", "predicted_glycosites": 17, "predicted_n_glycosites": 17, "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": 3, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 93, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 21, "disease_count": 13, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "Q5VTD7;Q9UD88", "ec_number_list": [ { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008201 heparin binding;GO:0034185 apolipoprotein binding;GO:0004866 endopeptidase inhibitor activity;GO:0001968 fibronectin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0034358 plasma lipoprotein particle", "go_biological_process": "GO:0006508 proteolysis;GO:0006629 lipid metabolic process;GO:0006869 lipid transport;GO:0008015 blood circulation", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "P08519-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SW96-1", "uniprot_id": [ { "id": "ARH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SW96", "type": "external" } ], "mass": 33885.0, "length": 308, "protein_name": "Low density lipoprotein receptor adapter protein 1", "gene_name": "LDLRAP1", "organism": "Human", "refseq_name": "low density lipoprotein receptor adapter protein 1", "refseq_ac": [ { "id": "NP_056442", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056442", "type": "external" } ], "gene_names_uniprotkb": "LDLRAP1; ARH", "gene_names_refseq": "ARH1; ARH2; ARH; FHCB1; FHCB2; FHCL4; LDLRAP1", "protein_names_uniprotkb": "Low density lipoprotein receptor adapter protein 1; Autosomal recessive hypercholesterolemia protein", "protein_names_refseq": "LDL receptor adaptor protein; autosomal recessive hypercholesterolemia protein; low density lipoprotein receptor adapter protein 1", "tax_id": 9606, "disease": "autosomal recessive hypercholesterolemia (Disease Ontology:DOID:0090105)", "pathway": " (hsa:26119); (R-HSA-196791); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8964026); (R-HSA-8964038); (R-HSA-9758890)", "pathway_count": 7, "publication_count": 339, "publication_id_list": "10052453;10097102;10224102;10436022;10438503;10518789;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11012668;11071885;11076969;11082044;11085925;11231140;11234559;11237011;11239472;11247302;11326085;11454741;11470803;11516654;11517213;11532990;11577110;11584272;11588219;11717447;11799400;11856765;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12227689;12234931;12417523;12429842;12447393;12451172;12464600;12464675;12717448;12847086;12855575;12867411;12944396;12952949;12958364;1317852;14528014;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15166224;15252009;15260957;15265030;15318165;15339664;1535555;15465040;15473838;15502812;15502813;15647825;15649145;15652495;15671180;15703209;15728179;15728261;15802264;15895077;15916959;16103228;16159959;16179341;16215232;16326391;16410077;16459302;16460808;16516836;16537422;16707488;16723738;16798879;16880396;16903783;17018281;17018531;17035995;17158794;1718995;17267500;17360967;17452316;17456551;17494869;17512409;17522231;17525332;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18388313;1847920;18644789;18669648;18772377;18775314;18779389;18782767;18790740;18819912;18981233;19092055;19136951;19140243;19141679;19196236;19287005;19296720;19458185;19473635;19536138;19563754;19575674;19592704;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20124734;20211604;20231386;20351096;20428113;20448150;20524213;20826345;20946875;20947831;21102408;2115402;21187331;21209280;21278753;21316588;21445324;21482805;21499258;21511966;21595846;21613550;21778424;21779028;21841790;21849106;21883765;21927000;21927001;21962517;21995445;22099461;22118466;221835;22233676;22357968;22484487;22505844;22547309;22564762;2257624;22764087;22815487;22863004;22877430;22879719;22918710;22922874;22942912;23186163;23297414;23481700;23536704;23823722;23836931;23846701;23857223;23861397;23891661;24101867;24130457;24186068;24384571;24569127;24581490;24680432;24714562;24715725;24746795;24789820;24868095;24966051;25107275;25303366;25341920;25363733;25576301;25645385;25699256;25880248;25892735;25915661;26042225;26154972;26403691;26434738;26474739;26728094;26748501;26829388;26992070;2722848;27250744;27411955;27456980;27600516;2777761;27846572;27862975;27913313;28005175;28206978;28228285;28832583;28834231;28841848;28904123;2890644;29242379;29393594;29493099;29557506;29769354;29786170;30429286;31092671;31844290;32157095;32387766;32897882;32938616;33141586;33298915;33592498;33717175;33845046;33866776;33912179;33968037;3417785;34425670;35051231;35580925;36284347;3782074;38884343;4001945;6146630;7569928;759210;7768901;7822302;7877694;8049197;8112342;8146180;8300609;8407899;8506296;8524399;8552632;8553074;8679605;8706697;8710919;8837779;9092476;9100026;915005;9169477;9303539;9427626;9428629;9635431;9705237;9723620;9736607;9756920;9812899;9821970", "class_list": "", "function": "A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia, [RefSeq, PubMed]; ARH functions as an adaptor protein that couples LDLR to the endocytic machinery, [RefSeq, PubMed]; Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytosis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Methylation status of LDLR, PCSK9 and LDLRAP1 is associated with cardiovascular events in familial hypercholesterolemia., [RefSeq, PubMed]; The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [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, "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": 3, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 6, "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": "A2BHI5;Q6TQS9;Q8N2Y0;Q9UFI9", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0050750 low-density lipoprotein particle receptor binding;GO:0001540 amyloid-beta binding;GO:0035612 AP-2 adaptor complex binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030424 axon;GO:0055037 recycling endosome", "go_biological_process": "GO:0008203 cholesterol metabolic process;GO:0031623 receptor internalization;GO:0042632 cholesterol homeostasis;GO:0042982 amyloid precursor protein metabolic process;GO:1904707 positive regulation of vascular associated smooth muscle cell proliferation", "synthesized_glycan_count": 0, "hit_score": 34.0, "record_id": "Q5SW96-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4G2-1", "uniprot_id": [ { "id": "ARL14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4G2", "type": "external" } ], "mass": 21588.0, "length": 192, "protein_name": "ADP-ribosylation factor-like protein 14", "gene_name": "ARL14", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 14", "refseq_ac": [ { "id": "NP_079323", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079323", "type": "external" } ], "gene_names_uniprotkb": "ARL14; ARF7", "gene_names_refseq": "ARF7; ARL14", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 14; ADP-ribosylation factor 7", "protein_names_refseq": "ADP ribosylation factor like GTPase 14; ADP-ribosylation factor 7; ADP-ribosylation factor-like 14; ADP-ribosylation factor-like protein 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:80117)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "21458045;32972971;39894887", "class_list": "", "function": "GTPase that recruits MYO1E to MHC class II-containing vesicles via the effector protein ARL14EP and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells., [UniProtKB, PubMed]; The amphipathic helices of Arfrp1 and Arl14 are sufficient to determine subcellular localizations., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "Q9H655", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0030010 establishment of cell polarity", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N4G2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NA61-1", "uniprot_id": [ { "id": "CBY2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NA61", "type": "external" } ], "mass": 51570.0, "length": 448, "protein_name": "Protein chibby homolog 2", "gene_name": "CBY2", "organism": "Human", "refseq_name": "protein chibby homolog 2 isoform 2", "refseq_ac": [ { "id": "NP_001273270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273270", "type": "external" } ], "gene_names_uniprotkb": "CBY2; SPERT", "gene_names_refseq": "CBY2; NURIT; SPERT", "protein_names_uniprotkb": "Protein chibby homolog 2; Spermatid-associated protein", "protein_names_refseq": "novel leucine zipper testicular protein; protein chibby homolog 2 isoform 2; protein chibby homolog 2; spermatid associated; spermatid flower-like structure protein; spermatid-associated protein; testicular tissue protein Li 182; testis-specific leucine zipper protein nurit", "tax_id": 9606, "disease": "", "pathway": " (hsa:220082)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;25576301;30620550;33968037", "class_list": "", "function": "", "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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "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": "A8K8I5;Q8NHV2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0031410 cytoplasmic vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NA61-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60826-1", "uniprot_id": [ { "id": "CCD22_HUMAN", "url": "https://www.uniprot.org/uniprot/O60826", "type": "external" } ], "mass": 70756.0, "length": 627, "protein_name": "Coiled-coil domain-containing protein 22", "gene_name": "CCDC22", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 22", "refseq_ac": [ { "id": "NP_054727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054727", "type": "external" } ], "gene_names_uniprotkb": "CCDC22; CXorf37; JM1", "gene_names_refseq": "CCDC22; CXorf37; JM1; RTSC2", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 22", "protein_names_refseq": "coiled-coil domain containing 22; coiled-coil domain-containing protein 22", "tax_id": 9606, "disease": "Ritscher-Schinzel syndrome 2 (Disease Ontology:DOID:0060572)", "pathway": " (hsa:28952); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 169, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12522145;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18088087;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;20398921;21447816;21463634;21778237;21826058;21863050;21940857;22306028;22466964;22537386;22959436;23092983;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;24916641;25314029;25349211;25355947;25418920;25531226;26344709;26375851;26460955;26632597;26638075;26811146;26906416;26992070;27030794;27222660;27452731;27565346;27600516;27846572;27920218;28115426;28218747;28228285;28832583;28834231;28892079;28904123;29153394;29242379;29351928;29393594;29437277;29557506;29632046;29786170;30315122;30429286;30610225;31020640;31154438;31530632;31844290;31848261;32005965;32157095;32161166;32265295;32284348;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33444648;33592498;33912179;33936100;33968037;34019948;34171305;34509645;34561969;34932366;35051231;35154160;36010968;36284347;37172566;38459129;40914422;9790970;9887101;9891082", "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]; CCDC22 participates in NF-kappaB activation and its deficiency leads to decreased IkappaB turnover, [RefSeq, 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). Involved in regulation of NF-kappa-B signaling (PubMed:23563313). Promotes ubiquitination of I-kappa-B-kinase subunit IKBKB and its subsequent proteasomal degradation leading to NF-kappa-B activation; the function may involve association with COMMD8 and a CUL1-dependent E3 ubiquitin ligase complex (PubMed:23563313). May down-regulate NF-kappa-B activity via association with COMMD1 and involving a CUL2-dependent E3 ubiquitin ligase complex. Regulates the cellular localization of COMM domain-containing proteins, such as COMMD1 and COMMD10 (PubMed:23563313). Component of the CCC complex, which is involved in the regulation of endosomal recycling of surface proteins, including integrins, signaling receptor and channels. 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). Plays a role in copper ion homeostasis (PubMed:25355947). 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 (PubMed:25355947)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Identifies the homologous mouse protein as a copine-binding protein., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]., [RefSeq]; This study demonistrated that CCDC22 is a novel candidate gene for syndromic X-linked intellectual disability., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K7G1", "ec_number_list": [], "go_molecular_function": "GO:0097602 cullin family protein binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0010008 endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006878 intracellular copper ion homeostasis;GO:0015031 protein transport;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "O60826-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26842-1", "uniprot_id": [ { "id": "CD27_HUMAN", "url": "https://www.uniprot.org/uniprot/P26842", "type": "external" } ], "mass": 29137.0, "length": 260, "protein_name": "CD27 antigen", "gene_name": "CD27", "organism": "Human", "refseq_name": "CD27 antigen isoform b precursor", "refseq_ac": [ { "id": "NP_001233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001233", "type": "external" } ], "gene_names_uniprotkb": "CD27; TNFRSF7", "gene_names_refseq": "CD27; S152. LPFS2; S152; T14; TNFRSF7; Tp55", "protein_names_uniprotkb": "CD27 antigen; CD27L receptor; T-cell activation antigen CD27; T14; Tumor necrosis factor receptor superfamily member 7", "protein_names_refseq": "CD27 antigen isoform b precursor; CD27L receptor; T cell activation antigen S152; T-cell activation antigen CD27; tumor necrosis factor receptor superfamily, member 7", "tax_id": 9606, "disease": "lymphoproliferative syndrome 2 (Disease Ontology:DOID:0060708); alcohol-associated liver disease (Disease Ontology:DOID:0070658)", "pathway": " (hsa:939); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10074428;10359578;10398604;10484778;10597252;10615125;11571266;11882293;11911831;12189164;12949498;1334106;14656435;15340161;15356117;15470070;16501042;1655907;17632511;18571443;18606301;20032458;20222921;20307208;20510730;20979233;21300286;22171320;22197273;22664871;22801960;24070496;24190977;25502872;26811146;27846572;28011863;28228285;28832583;28904123;29242379;30237853;30315122;30459171;31217245;31844290;33298915;33936100;34419446;34433824;36284347;36993956;37321014;37584826;38279834;38354704;7913952;8120384;8871664;9177220;9692890;9878548", "class_list": "", "function": "Cerebrospinal fluid soluble CD27 is associated with CD8[+] T cells, B cells and biomarkers of B cell activity in relapsing-remitting multiple sclerosis. Erratum:[J Neuroimmunol. 2025 Jun 15;403:578607. doi: 10.1016/j.jneuroim.2025.578607. PMID: 40215560], [RefSeq, PubMed]; Chronic CD27-CD70 costimulation promotes type 1-specific polarization of effector Tregs. Publication Status: Online-Only, [RefSeq, PubMed]; Comprehensive Analysis of Expression and Pathway for CD27 in Esophageal Cancer., [RefSeq, PubMed]; Costimulatory immune-checkpoint receptor expressed at the surface of T-cells, NK-cells and B-cells which binds to and is activated by its ligand CD70/CD27L expressed by B-cells (PubMed:28011863). The CD70-CD27 signaling pathway mediates antigen-specific T-cell activation and expansion which in turn provides immune surveillance of B-cells (PubMed:28011863). Mechanistically, CD70 ligation activates the TRAF2-PTPN6 axis that subsequently inhibits LCK phosphorylation to promote phenotypic and transcriptional adaptations of T-cell memory (PubMed:38354704). In addition, activation by CD70 on early progenitor cells provides a negative feedback signal to leukocyte differentiation during immune activation and thus modulates hematopoiesis (By similarity). Negatively regulates the function of Th2 lymphocytes in the adipose tissue (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Soluble CD27 as a predictive biomarker for intra-tumoral CD70/CD27 interaction in nasopharyngeal carcinoma., [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]., [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": 1, "reported_o_glycosites": 1, "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, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 5, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RDZ0", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0043066 negative regulation of apoptotic process;GO:0046330 positive regulation of JNK cascade;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0042110 T cell activation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P26842-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05496-1", "uniprot_id": [ { "id": "AT5G1_HUMAN", "url": "https://www.uniprot.org/uniprot/P05496", "type": "external" } ], "mass": 14277.0, "length": 136, "protein_name": "ATP synthase F(0) complex subunit C1, mitochondrial", "gene_name": "ATP5MC1", "organism": "Human", "refseq_name": "ATP synthase F(0) complex subunit C1, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001002027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002027", "type": "external" } ], "gene_names_uniprotkb": "ATP5MC1; ATP5G1", "gene_names_refseq": "ATP5A; ATP5G1; ATP5G; ATP5MC1", "protein_names_uniprotkb": "ATP synthase F(0) complex subunit C1, mitochondrial; ATP synthase lipid-binding protein; ATP synthase membrane subunit c locus 1; ATP synthase proteolipid P1; ATP synthase proton-transporting mitochondrial F(0) complex subunit C1; ATPase protein 9; ATPase subunit c; Proton-conducting channel, ATP synthase F(0) complex subunit c", "protein_names_refseq": "ATP synthase F(0) complex subunit C1, mitochondrial precursor; ATP synthase F(0) complex subunit C1, mitochondrial; ATP synthase lipid-binding protein, mitochondrial; ATP synthase proteolipid P1; ATP synthase proton-transporting mitochondrial F(0) complex subunit C1; ATP synthase subunit 9; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9); ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9); ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9); ATPase protein 9; ATPase subunit 9; ATPase subunit C; dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit; mitochondrial ATP synthase, subunit 9; mitochondrial ATP synthase, subunit C; proton-conducting channel, ATP synthase F(0) complex subunit c", "tax_id": 9606, "disease": "early-onset dystonia and/or spastic paraplegia (Disease Ontology:DOID:0070445); mitochondrial complex V (ATP synthase) deficiency (Disease Ontology:DOID:0111143)", "pathway": " (hsa:516); (R-HSA-1268020); (R-HSA-163210); (R-HSA-8949613)", "pathway_count": 4, "publication_count": 115, "publication_id_list": "11230166;11237011;14726512;15104674;15254020;15644312;15683237;16185709;16849325;17121862;17510655;17624330;18174896;18323778;18678864;19409522;19453276;19767391;19962426;20112406;20593814;20833715;21750375;21836051;22114354;22252321;22864911;23041349;23481700;23597483;23811401;24098383;24687277;24714562;24715725;25285856;25315652;25418920;25548167;25645385;25764979;25781180;25997101;26154972;26375851;26416881;26477565;26530328;26697887;26758079;26929215;26968360;26992070;27397612;27479602;27485409;27623147;27846572;27920218;28063628;28228285;28514659;28832583;2883974;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30530489;31154438;31217245;31652072;31844290;31848261;31937595;32157095;32357974;32387766;32502341;32938616;32983136;33091337;33141586;33298915;33359711;33392160;33852870;33912179;33936100;33968037;34087483;34211107;34357683;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36284347;37244256;37938771;4517936;8328972;8485160", "class_list": "", "function": "A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients., [RefSeq, PubMed]; Subunit c, 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 (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). 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). With the subunit a (MT-ATP6), forms the proton-conducting channel in the F(0) domain, that contains two crucial half-channels (inlet and outlet) that facilitate proton movement from the mitochondrial intermembrane space (IMS) into the matrix (PubMed:37244256). Protons are taken up via the inlet half-channel and released through the outlet half-channel, following a Grotthuss mechanism (PubMed:37244256)., [UniProtKB, PubMed]; This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [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, "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": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding;GO:0015252 proton channel activity;GO:0015078 proton transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex;GO:0033177 proton-transporting two-sector ATPase complex, proton-transporting domain", "go_biological_process": "GO:0015986 proton motive force-driven ATP synthesis;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "P05496-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPN7-1", "uniprot_id": [ { "id": "PP6R1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPN7", "type": "external" } ], "mass": 96724.0, "length": 881, "protein_name": "Serine/threonine-protein phosphatase 6 regulatory subunit 1", "gene_name": "PPP6R1", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 6 regulatory subunit 1", "refseq_ac": [ { "id": "NP_055746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055746", "type": "external" } ], "gene_names_uniprotkb": "PPP6R1; KIAA1115; PP6R1; SAPS1", "gene_names_refseq": "KIAA1115; PP6R1; PPP6R1; SAP190; SAPS1", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 6 regulatory subunit 1; SAPS domain family member 1", "protein_names_refseq": "SAPS domain family, member 1; serine/threonine-protein phosphatase 6 regulatory subunit 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:22870); (R-HSA-204005)", "pathway_count": 2, "publication_count": 146, "publication_id_list": "10445031;10559959;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11927603;12070132;12235121;15037235;16303754;16495487;16624868;16769727;16912714;17005010;17038314;17081983;17192411;17287728;17316621;17562788;17684057;18186651;18452278;18669648;18691976;18843296;18991276;19164740;19638414;19651622;19656848;19690332;20068231;20545907;20679433;20966969;21406692;21478858;21532587;21689688;22013193;22157747;22675024;23186163;23301498;23378591;23479643;23481700;23698585;23864707;24119662;24190977;24275569;24366607;24714562;24715725;24917561;25202031;25406594;25492864;25576301;25586378;25619252;25810538;25892735;26154972;26375851;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29605689;29769354;29786170;29789417;30315122;30410026;30429286;30524438;30779550;30833945;31092671;31154438;31217245;31373491;31530632;31844290;31848261;31937595;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34087483;34357683;34509645;34561969;34932366;35051231;35132862;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37938771;40914422;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9647643", "class_list": "", "function": "Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]., [RefSeq]; Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "Q2M2H3;Q504V2;Q6NVJ6;Q9BU97", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0031267 small GTPase binding;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0030027 lamellipodium", "go_biological_process": "GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q9UPN7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYX7-1", "uniprot_id": [ { "id": "SAXO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYX7", "type": "external" } ], "mass": 54621.0, "length": 474, "protein_name": "Stabilizer of axonemal microtubules 1", "gene_name": "SAXO1", "organism": "Human", "refseq_name": "stabilizer of axonemal microtubules 1 isoform c", "refseq_ac": [ { "id": "NP_001273979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273979", "type": "external" } ], "gene_names_uniprotkb": "SAXO1; C9orf138; FAM154A", "gene_names_refseq": "C9orf138; FAM154A; SAXO1", "protein_names_uniprotkb": "Stabilizer of axonemal microtubules 1", "protein_names_refseq": "4930500O09Rik; family with sequence similarity 154, member A; protein FAM154A; stabilizer of axonemal microtubules 1 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:158297)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;23144319;24715725;25673876;29557506;30379171", "class_list": "", "function": "May play a role in the regulation of cilium length. Stabilizes microtubules at low temperature., [UniProtKB, PubMed]; SAXO1 binds specifically to centriole and cilium microtubules., [RefSeq, PubMed]; Single-nucleotide polymorphisms in FAM154A is associiated with non-small cell lung cancer., [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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "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": "A8K880;Q5VY58", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005813 centrosome;GO:0005856 cytoskeleton;GO:0031514 motile cilium;GO:0036126 sperm flagellum", "go_biological_process": "GO:0070417 cellular response to cold;GO:0050821 protein stabilization;GO:0009631 cold acclimation;GO:0030030 cell projection organization;GO:0045724 positive regulation of cilium assembly", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8IYX7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NC69-1", "uniprot_id": [ { "id": "KCTD6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NC69", "type": "external" } ], "mass": 27610.0, "length": 237, "protein_name": "BTB/POZ domain-containing protein KCTD6", "gene_name": "KCTD6", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD6", "refseq_ac": [ { "id": "NP_001121686", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121686", "type": "external" } ], "gene_names_uniprotkb": "KCTD6", "gene_names_refseq": "KCASH3; KCTD6", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD6; KCASH3 protein; Potassium channel tetramerization domain-containing protein 6", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD6; potassium channel tetramerisation domain containing 6; potassium channel tetramerization domain-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:200845); (R-HSA-8931987); (R-HSA-8951664); (R-HSA-9018519); (R-HSA-983168)", "pathway_count": 5, "publication_count": 276, "publication_id_list": "10500157;10535940;10597293;10811609;10828826;10873660;10878807;10973499;11010967;11034064;11062501;11069780;11103799;11136970;11165043;11237011;11259415;11292861;11292862;11345900;11350924;11410592;11452016;11454738;11581164;11585840;11682626;11733065;11961546;12101228;12186903;12498683;12504025;12504026;12526791;12538644;12609982;12612073;12646216;12682069;12759363;12816948;12959972;14631847;14675539;14690597;14734113;14757770;15001666;15224091;15224092;15276198;15282312;15282324;15343269;15345050;15361859;15367669;15514030;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15986123;16009131;16046058;16087863;16113099;16171779;16303743;1630819;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;16980581;17013392;17081101;17132228;17183367;17220875;17277772;17332328;17463000;17495528;17497243;17510434;17637753;17666587;17690249;17785452;18093314;18187655;18206966;18219272;18256232;18322535;18358809;18476782;18491316;18533032;18662542;18762174;18775313;18776931;18805092;18805503;18826954;18851830;18926707;19001364;19020303;19028597;19098913;19250909;19274700;19295514;19321346;19321454;19352404;19383337;19452197;19489725;19617556;19718048;19748355;19851334;19874575;19940261;20219941;20220130;20498280;20547749;20570965;20682797;21106759;21151129;21445275;21447816;21463634;21472142;21573489;21778237;2181374;21835891;21863050;21878914;21934649;21940756;21940857;22056668;22265404;22306028;22466964;22492511;22537386;22545144;22573887;2261476;22704330;22959436;23145106;23172872;23192763;23201271;23303788;23333871;23401859;23403292;23435229;23453757;23481700;23535662;23535663;23563313;23583660;23723241;23906331;23912815;23986495;24076655;24167369;24307990;24366543;24371278;24636985;24735615;24793695;24793696;24854081;24885040;24973012;24998469;25296600;25314029;25349211;25355947;25365482;25433557;25531226;25542856;25633194;25663755;25674852;25728767;25974686;26056233;26153859;26204489;26334369;26344709;26460955;26462610;26479350;26632597;26906416;26916619;27030794;27062924;27152988;27222660;27565346;27621083;27886276;28115426;28539435;28832583;29153394;2919170;29293652;29632711;3045126;30610225;31217245;31844290;31848261;32005965;32157095;32284348;3281094;32938616;32983136;33392160;33444648;34561969;3498214;35051231;3677090;7559524;7935485;7937828;8195246;8197458;8419924;8876171;9201922;9338790;9380723;9388265;9611253;9668046;9671459;9731700;9790970;9887101;9891082", "class_list": "", "function": "A biophysical characterization of the POZ/BTB of KCTD6, is reported., [RefSeq, PubMed]; Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover, [RefSeq, PubMed]; Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1; the function seems to depend on KCTD11:KCTD6 oligomerization. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblastoma (MDB) (PubMed:21472142). Involved in regulating protein levels of ANK1 isoform Mu17 probably implicating CUL3-dependent proteasomal degradation (PubMed:22573887)., [UniProtKB, PubMed, PubMed]; Rescuing KCASHs expression reduces the Hedgehog-dependent medulloblastoma growth, suggesting that loss of members of this novel family of native HDAC inhibitors is crucial in sustaining Hh pathway-mediated tumorigenesis., [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": 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": 1, "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": "B3KNI5;Q8NBS6;Q8TCA6", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0097602 cullin family protein binding;GO:0030506 ankyrin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0031430 M band", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0045879 negative regulation of smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 27.7, "record_id": "Q8NC69-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07820-1", "uniprot_id": [ { "id": "MCL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07820", "type": "external" } ], "mass": 37337.0, "length": 350, "protein_name": "Induced myeloid leukemia cell differentiation protein Mcl-1", "gene_name": "MCL1", "organism": "Human", "refseq_name": "induced myeloid leukemia cell differentiation protein Mcl-1 isoform 3", "refseq_ac": [ { "id": "NP_001184249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184249", "type": "external" } ], "gene_names_uniprotkb": "MCL1; BCL2L3", "gene_names_refseq": "BCL2L3; EAT; MCL1-ES; MCL1L; MCL1S; MCL1; Mcl-1; TM; bcl2-L-3; mcl1/EAT", "protein_names_uniprotkb": "Induced myeloid leukemia cell differentiation protein Mcl-1; Bcl-2-like protein 3; Bcl-2-related protein EAT/mcl1; Bcl2-L-3; mcl1/EAT", "protein_names_refseq": "BCL2 family apoptosis regulator; MCL1, BCL2 family apoptosis regulator; bcl-2-like protein 3; bcl-2-related protein EAT/mcl1; induced myeloid leukemia cell differentiation protein Mcl-1 isoform 3; induced myeloid leukemia cell differentiation protein Mcl-1; myeloid cell leukemia 1; myeloid cell leukemia ES; myeloid cell leukemia sequence 1 (BCL2-related)", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); lung cancer (Disease Ontology:DOID:1324); colon cancer (Disease Ontology:DOID:219); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:4170); (R-HSA-6785807); (R-HSA-9725370)", "pathway_count": 3, "publication_count": 318, "publication_id_list": "10023775;10216106;10219247;10369418;10510379;10556217;10586089;10634649;10702393;10706082;10706887;10766760;10837489;10867011;10934142;11058569;11084045;11104795;11110708;11120780;11130466;11237011;11278437;11278729;11280786;11310834;11356008;11404481;11463377;11504915;11751994;11850821;11943732;11960372;11988758;12112524;12149273;12185581;12223490;12223527;12242343;12424201;12600988;12750159;12800156;12832402;12920229;12934099;14634100;14712222;14962911;15077116;15116091;15122313;15169778;15208656;15241487;15261459;15374880;15584925;15588951;15805299;15869882;15895073;15950906;15989957;16007214;16048438;16107692;16153455;16161041;16170336;16205632;16236134;16397018;16451196;16510571;16540365;16543145;16606674;16825495;16871283;16939498;17086210;17353907;17389404;17416736;17427945;17458857;17463001;17483340;17572495;17625570;17670986;18097461;18243101;18353781;18447642;18452557;18593892;18594010;18644974;18669648;18676833;18701132;18724359;18923523;18923524;18923525;18987736;18991276;19124156;19185846;19397496;19456272;19459784;19683529;19734538;19903766;20068231;20112406;20454865;20493732;20526282;20562877;21102457;21134980;21164297;21213368;21252155;21415216;21494621;21507240;21596819;21656749;21689689;21730069;21838707;21847362;21937440;21994466;22046235;22205702;22249260;22327622;22347464;22383755;22558078;22570254;22658521;22693070;22751450;22851691;23024798;23055042;23086340;23104988;23124025;23139213;23172665;23201355;23239810;23455323;23481700;23555662;23661334;23783831;23872733;23957430;23967200;24060861;24097101;24261825;24327018;24366607;24428916;24445538;24475247;24496003;24518094;24613930;24714562;24715725;24736082;24743777;24779770;25234944;25324174;25342631;25393796;25418920;25421750;25469497;25499217;25576301;25596730;25645385;25733019;25813404;25921060;26001147;26062823;26154972;26219338;26301689;26720004;26811146;26992070;27013495;27166195;27245569;27397612;27573755;27738316;27846572;27874193;27920218;28063628;28218747;28228285;28404650;28522751;28659337;28741662;28832583;28834231;29242379;29291023;29314611;29393594;29435156;29437277;29455642;29493099;29508533;29557506;29632046;29632711;29786170;29873274;30131584;30315122;30410026;30429286;30692217;30741422;30779550;30833945;31154438;31291378;31366041;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32587776;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34357683;34932366;35051231;35063767;35151832;35154160;35318648;35561310;35580925;35857899;36010968;36241641;36284347;37938771;39213434;39894887;7510216;7512451;7529288;7682708;7795521;7796300;7824924;7898939;7907877;8085155;8602263;8621622;8633037;8663118;8668165;8790944;8797861;8816495;9013879;9651359;9671497;9723655;9736340;9819383;9822675;9874564", "class_list": "", "function": "Data show that MCL-1ES interacts with MCL-1L and induces mitochondrial cell death, suggesting that alternative splicing of MCL-1 may control the fate of cells., [RefSeq, PubMed]; Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation. Mediates its effects by interactions with a number of other regulators of apoptosis. Isoform 1 inhibits apoptosis. Isoform 2 promotes apoptosis., [UniProtKB, PubMed, PubMed]; RVFV virulence factor NSs triggers the mitochondrial MCL-1-BAK axis to activate pathogenic NLRP3 pyroptosis. Erratum:[PLoS Pathog. 2025 Apr 24;21(4):e1013113. doi: 10.1371/journal.ppat.1013113. PMID: 40273018] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]., [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": 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": 20, "reported_mutagensis": 15, "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": "B2R6B2;D3DV03;D3DV04;Q9HD91;Q9NRQ3;Q9NRQ4;Q9UHR7;Q9UHR8;Q9UHR9;Q9UNJ1", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0015267 channel activity;GO:0051434 BH3 domain binding;GO:0008320 protein transmembrane transporter activity;GO:0051400 BH domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0019725 cellular homeostasis;GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0006974 DNA damage response;GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage", "synthesized_glycan_count": 0, "hit_score": 32.1, "record_id": "Q07820-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WW35-1", "uniprot_id": [ { "id": "DYT2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WW35", "type": "external" } ], "mass": 16122.0, "length": 142, "protein_name": "Dynein light chain Tctex-type protein 2B", "gene_name": "DYNLT2B", "organism": "Human", "refseq_name": "dynein light chain Tctex-type protein 2B isoform 2", "refseq_ac": [ { "id": "NP_689986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689986", "type": "external" } ], "gene_names_uniprotkb": "DYNLT2B; TCTEX1D2", "gene_names_refseq": "DYNLT2B; SRTD17; TCTEX1D2", "protein_names_uniprotkb": "Dynein light chain Tctex-type protein 2B; Tctex1 domain-containing protein 2", "protein_names_refseq": "Tctex1 domain containing 2; dynein light chain Tctex-type protein 2B isoform 2; dynein light chain Tctex-type protein 2B; tctex1 domain-containing protein 2", "tax_id": 9606, "disease": "asphyxiating thoracic dystrophy (Disease Ontology:DOID:0050592); ciliopathy (Disease Ontology:DOID:0060340); spermatogenic failure (Disease Ontology:DOID:0111910); short-rib thoracic dysplasia 17 with or without polydactyly (MONDO:MONDO:0054565)", "pathway": " (hsa:255758); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10069812;11237011;11285270;12795688;15231740;15269286;15489852;15523559;15955805;16049494;16435301;16492809;16775004;16782012;17312020;17314406;17574030;18180368;18304522;18364699;18369462;18852297;19112494;19147001;19253336;19384852;19450523;19720863;19805633;20435895;20526327;20526328;20530210;20889716;21427764;21936775;22118932;22922713;22992454;23945166;23990561;24140113;24296415;24596149;24616010;25205765;25349261;25443296;25830415;26044572;26154972;26992070;28904123;29742051;31217245;31844290;32157095;33592498;33936100;33968037;34561969;36010968;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system. Required for proper retrograde ciliary transport., [UniProtKB, PubMed, PubMed]; Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains. This gene encodes a subunit of the human cytoplasmic dynein-2 complex. Mutations in this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]., [RefSeq]; Integral component of the evolutionarily conserved retrograde intraflagellar transport machinery Erratum:[Nat Commun. 2016 Mar 29;7:11270. doi: 10.1038/ncomms11270. PMID: 27021811] Publication Status: Online-Only, [RefSeq, PubMed]; Tctex1d2 is a novel dynein light chain important for trafficking to the cilium and potentially retrograde intraflagellar transport., [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": 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": 0, "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": "A6NCN5", "ec_number_list": [], "go_molecular_function": "GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005929 cilium;GO:0001673 male germ cell nucleus;GO:0005868 cytoplasmic dynein complex;GO:0120293 dynein axonemal particle", "go_biological_process": "GO:0060271 cilium assembly;GO:0007018 microtubule-based movement;GO:1902017 regulation of cilium assembly;GO:0035721 intraciliary retrograde transport;GO:1905799 regulation of intraciliary retrograde transport", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q8WW35-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2T1-1", "uniprot_id": [ { "id": "AXIN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2T1", "type": "external" } ], "mass": 93568.0, "length": 843, "protein_name": "Axin-2", "gene_name": "AXIN2", "organism": "Human", "refseq_name": "axin-2 isoform 1", "refseq_ac": [ { "id": "NP_004646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004646", "type": "external" } ], "gene_names_uniprotkb": "AXIN2", "gene_names_refseq": "AXIL; AXIN2; ODCRCS", "protein_names_uniprotkb": "Axin-2; Axil; Axin-like protein; Axis inhibition protein 2; Conductin", "protein_names_refseq": "axin-2 isoform 1; axin-like protein; axis inhibition protein 2; conductin", "tax_id": 9606, "disease": "familial adenomatous polyposis (Disease Ontology:DOID:0050424); orofacial cleft (Disease Ontology:DOID:0050567); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); colon adenoma (Disease Ontology:DOID:0050912); colorectal carcinoma (Disease Ontology:DOID:0080199); dilated cardiomyopathy (Disease Ontology:DOID:12930); lung cancer (Disease Ontology:DOID:1324); Parkinson's disease (Disease Ontology:DOID:14330); colon carcinoma (Disease Ontology:DOID:1520); cancer (Disease Ontology:DOID:162); congenital heart disease (Disease Ontology:DOID:1682); transient cerebral ischemia (Disease Ontology:DOID:224); craniosynostosis (Disease Ontology:DOID:2340); endometrial adenocarcinoma (Disease Ontology:DOID:2870); gallbladder cancer (Disease Ontology:DOID:3121); lung adenocarcinoma (Disease Ontology:DOID:3910); lung small cell carcinoma (Disease Ontology:DOID:5409); hepatocellular carcinoma (Disease Ontology:DOID:684); hepatoblastoma (Disease Ontology:DOID:687); colorectal cancer (Disease Ontology:DOID:9256); oral mucosa leukoplakia (Disease Ontology:DOID:9655); oligodontia-cancer predisposition syndrome (MONDO:MONDO:0012075)", "pathway": " (hsa:8313); (R-HSA-201681); (R-HSA-4411364); (R-HSA-4641257); (R-HSA-5689880); (R-HSA-9943962)", "pathway_count": 6, "publication_count": 155, "publication_id_list": "10049590;10198061;10444327;10921920;10982817;11017067;11029007;11237011;11274398;11356022;11357136;11448771;11493532;11507205;11566882;11744694;11809808;11809809;11923872;11940574;12205098;12223464;12917689;12917691;14636582;14661020;14981260;15042511;15053880;15084453;15208637;15454084;15459103;15916963;15960975;16095617;16116452;16214042;16280981;16510874;16554443;16601693;16723543;16820935;16878130;16884355;16901786;16949368;16964248;16971168;17027977;17143291;17234765;17290220;17350655;17377531;17443180;17603073;17873522;17923689;17924679;17980597;17981138;18077588;18172164;18378692;18423204;18467330;18593890;18632802;18636086;18772112;19000841;19015242;19125156;19135894;19188362;19363159;19398555;19413330;19424180;19571879;19619488;19759537;19838211;19874889;19910467;20004982;20096447;20228808;20368735;20453063;20501646;20858899;21239494;21362556;21383061;21478859;21571647;21596315;21659512;21799911;21849505;21875946;21899694;21962518;22000856;22014570;22029577;22085928;22128162;22201888;22216260;22411803;22440753;22653731;22773843;23144924;23159851;23256519;23285124;23395819;23408615;23486064;23791946;23824326;23825189;24056413;24171719;24260525;24493797;24896179;25197364;25305019;25578727;28533432;28546513;30379171;30429286;30833945;31848261;34185709;35494241;36284347;37169182;37488774;37957865;38158447;39183201;6261960;7578059;9135132;9391096;9501980;9727977", "class_list": "", "function": "ALKBH5 Drives Immune Suppression Via Targeting AXIN2 to Promote Colorectal Cancer and Is a Target for Boosting Immunotherapy., [RefSeq, PubMed]; Axin2 depletion in macrophages alleviated senescence and increased immune response after myocardial infarction., [RefSeq, PubMed]; Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B., [UniProtKB, UniProtKB]; JNK2 Promotes Progression of Esophageal Squamous Cell Carcinoma via Inhibiting Axin2., [RefSeq, PubMed]; Pancreatic stellate cell-derived exosomal tRF-19-PNR8YPJZ promotes proliferation and mobility of pancreatic cancer through AXIN2., [RefSeq, PubMed]; The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]., [RefSeq]; What could be the role of genetic tests and machine learning of AXIN2 variant dominance in non-syndromic hypodontia? A case-control study in orthodontically treated patients. 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, "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": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 22, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3MJ88;Q9H3M6;Q9UH84", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019899 enzyme binding;GO:0019901 protein kinase binding;GO:0031625 ubiquitin protein ligase binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0045600 positive regulation of fat cell differentiation;GO:0048255 mRNA stabilization;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q9Y2T1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0L0-1", "uniprot_id": [ { "id": "VAPA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0L0", "type": "external" } ], "mass": 27893.0, "length": 249, "protein_name": "Vesicle-associated membrane protein-associated protein A", "gene_name": "VAPA", "organism": "Human", "refseq_name": "vesicle-associated membrane protein-associated protein A isoform 1", "refseq_ac": [ { "id": "NP_003565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003565", "type": "external" } ], "gene_names_uniprotkb": "VAPA; VAP33", "gene_names_refseq": "VAMP-A; VAP-33; VAP-A; VAP33; VAPA; hVAP-33", "protein_names_uniprotkb": "Vesicle-associated membrane protein-associated protein A; 33 kDa VAMP-associated protein; VAMP-A; VAMP-associated protein A; VAP-33; VAP-A", "protein_names_refseq": "33 kDa VAMP-associated protein; VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa; epididymis secretory sperm binding protein; vesicle-associated membrane protein-associated protein A isoform 1; vesicle-associated membrane protein-associated protein A", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 8 (Disease Ontology:DOID:0050752); autosomal dominant adult-onset proximal spinal muscular atrophy (Disease Ontology:DOID:0111194); neurodegenerative disease (Disease Ontology:DOID:1289); motor neuron disease (Disease Ontology:DOID:231); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:9218); (R-HSA-1660661); (R-HSA-6798695); (R-HSA-9609523)", "pathway_count": 4, "publication_count": 159, "publication_id_list": "10.1101/2023.09.13.557529;10523508;10722674;10751414;10802064;10947957;11237011;11511104;11937514;14685229;14685263;14976195;15063729;15328338;15337768;15708368;16100120;16118219;16143324;16571669;16777091;16793762;16895911;17023427;17050692;17331073;17355976;17382883;17449912;17591919;17982138;18165232;18165233;18184806;18477612;19005213;19233134;19289470;19416851;19506037;19608861;20061445;20068231;20110355;20166139;20178991;20182505;20375064;20676083;21444755;21466504;21620961;21636303;21743475;21957124;21976701;22517924;22970244;23041287;23129660;23142665;23180825;23186163;23246001;23533635;23601107;23602659;23650620;23754960;24105263;24275569;24392163;24569996;24715725;24782409;25179605;25415308;25447204;25535373;25576301;25645385;25713138;25788259;26675233;26992070;27193484;27226539;27452731;27458190;28104892;28228285;28514659;28575652;28832583;28904123;29242231;29242379;29351928;29393594;29557506;29563527;29632046;29632711;29786170;30315122;30429286;30524438;30659099;31217245;31611695;31844290;31895563;32157095;32265295;32344433;32350084;32387766;32488085;32870666;32897882;32938616;32983136;33124732;33298915;33592498;33717175;33912179;33968037;33981976;34019948;34087483;34171305;35051231;35132862;35154160;35318648;35409383;35561310;35580925;36010968;36241641;36284347;36693319;36902339;36907437;37217939;37224812;37390971;37926697;39152098;40596516;4339164;4817756;8692836;9188692;9312549;9363775;9657962;9920726", "class_list": "", "function": "Analysis of small EV proteomes reveals unique functional protein networks regulated by VAP-A., [RefSeq, PubMed]; Cancer-associated fibroblasts derived exosomal LINC01833 promotes the occurrence of non-small cell lung cancer through miR-335-5p -VAPA axis., [RefSeq, PubMed]; Endoplasmic reticulum (ER)-anchored protein that mediates the formation of contact sites between the ER and endosomes via interaction with FFAT motif-containing proteins such as STARD3 or WDR44 (PubMed:32344433, PubMed:33124732). STARD3-VAPA interaction enables cholesterol transfer from the ER to endosomes (PubMed:33124732). Via interaction with WDR44 participates in neosynthesized protein export (PubMed:32344433). In addition, recruited to the plasma membrane through OSBPL3 binding (PubMed:25447204). The OSBPL3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface (PubMed:25447204). With OSBPL3, may regulate ER morphology (PubMed:16143324). May play a role in vesicle trafficking (PubMed:11511104, PubMed:19289470)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; VAP-A intrinsically disordered regions enable versatile tethering at membrane contact sites., [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": 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, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NDZ0;D3DUI3;O75453;Q5U0E7;Q9UBZ2", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0019904 protein domain specific binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0006686 sphingomyelin biosynthetic process;GO:0044829 host-mediated activation of viral genome replication;GO:0031175 neuron projection development;GO:0035627 ceramide transport;GO:0015914 phospholipid transport", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "Q9P0L0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJX2-1", "uniprot_id": [ { "id": "CDC23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJX2", "type": "external" } ], "mass": 68834.0, "length": 597, "protein_name": "Cell division cycle protein 23 homolog", "gene_name": "CDC23", "organism": "Human", "refseq_name": "cell division cycle protein 23 homolog", "refseq_ac": [ { "id": "NP_004652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004652", "type": "external" } ], "gene_names_uniprotkb": "CDC23; ANAPC8", "gene_names_refseq": "ANAPC8; APC8; CDC23; CUT23", "protein_names_uniprotkb": "Cell division cycle protein 23 homolog; APC8; Anaphase-promoting complex subunit 8; Cyclosome subunit 8", "protein_names_refseq": "anaphase-promoting complex subunit 8; cell division cycle 23 homolog; cell division cycle protein 23 homolog; cyclosome subunit 8", "tax_id": 9606, "disease": "infertility (Disease Ontology:DOID:5223)", "pathway": " (hsa:8697); (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": 221, "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;15302935;15345747;15469821;15571818;15678131;15737063;15774718;16364912;16413484;16565220;16595681;16626623;16648845;16824194;16849449;16954532;16964243;17081983;17187060;17234884;17485488;18212344;18267069;18411265;18485873;18555777;18555778;18662542;18669648;18691976;18767875;19007248;19028597;19352404;19413330;19452197;19489725;19608861;19651622;19664994;19664995;19690332;19805069;19851334;19874575;19896182;19940261;20028861;20068231;20351173;20452968;21307936;21325273;21406692;21670496;2183031;21979375;22084091;22178396;2261476;22634325;22885700;23186163;23481700;23603117;23846687;23851460;2405250;24275569;24366607;24706756;24714562;24715725;25043029;25218447;25231993;25418920;25576301;25645385;25880248;25892735;26083744;26154972;26222030;26728094;26992070;27120157;27249176;27509861;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28657654;28832583;28834231;28904123;29033132;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30192525;30315122;30410026;30429286;30484775;30620550;30779550;30833945;31217245;31530632;31844290;31848261;32119511;32157095;32161166;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33633747;33717175;33863878;33912179;33936100;33968037;34171305;34185709;34211107;34357683;34405274;34509645;34595750;34725712;34932366;35051231;35254053;35580925;36010968;36241641;37541260;37768355;37938771;38665916;39534244;40307207;40596516;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9380723;9469815;9635433;9668046;9790767;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, 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)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects., [RefSeq, PubMed]; The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008]., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 15, "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": "A8K6E5;B4E3A2;B7WP05;D3DQB7;O75433;Q53FN2;Q9BS73", "ec_number_list": [], "go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity;GO:0140767 enzyme-substrate adaptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005680 anaphase-promoting complex", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0051301 cell division;GO:0007346 regulation of mitotic cell cycle;GO:0016567 protein ubiquitination;GO:0031145 anaphase-promoting complex-dependent catabolic process", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "Q9UJX2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75477-1", "uniprot_id": [ { "id": "ERLN1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75477", "type": "external" } ], "mass": 39171.0, "length": 348, "protein_name": "Erlin-1", "gene_name": "ERLIN1", "organism": "Human", "refseq_name": "erlin-1 isoform a", "refseq_ac": [ { "id": "NP_001094096", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094096", "type": "external" } ], "gene_names_uniprotkb": "ERLIN1; C10orf69; KE04; KEO4; SPFH1", "gene_names_refseq": "C10orf69; ERLIN1; Erlin-1; KE04; KEO4; SPFH1; SPG62", "protein_names_uniprotkb": "Erlin-1; Endoplasmic reticulum lipid raft-associated protein 1; Protein KE04; SPFH domain-containing protein 1; Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1", "protein_names_refseq": "Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9; SPFH domain family, member 1; SPFH domain-containing protein 1; endoplasmic reticulum lipid raft-associated protein 1; erlin-1 isoform a; stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1", "tax_id": 9606, "disease": "hereditary spastic paraplegia 62 (Disease Ontology:DOID:0110813); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:10613); (R-HSA-382556); (R-HSA-5678895); (R-HSA-9931269)", "pathway_count": 4, "publication_count": 126, "publication_id_list": "10484077;10665657;10748049;11118313;11146634;11237011;11504826;11562789;11812794;12379217;12379510;12403779;12604685;1352877;1356264;1359686;1377674;14661924;15175422;15472518;15611333;15863492;15899824;16816140;16835267;16901789;1695717;17523162;17855752;17894550;17977821;18282684;18434309;18669648;18716059;18940312;19002207;19159218;19240031;19447222;19570978;19608861;1968359;19862647;1998343;20068231;20583968;20621639;21083385;21343306;2135388;21610068;21652558;22047557;2210768;22178883;22318583;2236053;23063411;24019521;24190977;24217618;24482476;24685677;2475911;25133187;25584290;2570070;2570460;26208431;28132103;2898143;29055231;29741879;30118680;30334692;30334693;31020640;31611695;31679946;31810281;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32981041;32983136;33298915;33592498;33936100;33968037;33981976;34405274;34509645;3457471;3472246;34725712;35051231;35251023;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37340703;37683630;38665916;38776916;39018973;40307207;40596516;7523390;7529176;7553863;7553864;7865904;9652413;9816258;9831708", "class_list": "", "function": "(Microbial infection) Required early in hepatitis C virus (HCV) infection to initiate RNA replication, and later in the infection to support infectious virus production., [UniProtKB, PubMed]; Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway (PubMed:37683630). Binds cholesterol and may promote ER retention of the SCAP-SREBF complex (PubMed:24217618)., [UniProtKB, PubMed, PubMed, PubMed]; Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER., [RefSeq, PubMed]; Mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway., [UniProtKB, UniProtKB]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD., [RefSeq, PubMed]; The erlin1/erlin2 complex binds to and stabilizes phosphatidylinositol 3-phosphate and regulates autophagy., [RefSeq, PubMed]; The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]., [RefSeq]; Usp25-Erlin1/2 activity limits cholesterol flux to restrict virus infection., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B0QZ42;D3DR65;Q53HV0", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0015485 cholesterol binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0045121 membrane raft;GO:0005789 endoplasmic reticulum membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0008203 cholesterol metabolic process;GO:0045717 negative regulation of fatty acid biosynthetic process;GO:0045540 regulation of cholesterol biosynthetic process;GO:0036503 ERAD pathway;GO:0045541 negative regulation of cholesterol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "O75477-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23771-1", "uniprot_id": [ { "id": "GATA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P23771", "type": "external" } ], "mass": 47916.0, "length": 443, "protein_name": "Trans-acting T-cell-specific transcription factor GATA-3", "gene_name": "GATA3", "organism": "Human", "refseq_name": "trans-acting T-cell-specific transcription factor GATA-3 isoform 1", "refseq_ac": [ { "id": "NP_001002295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002295", "type": "external" } ], "gene_names_uniprotkb": "GATA3", "gene_names_refseq": "GATA3; HDRS; HDR", "protein_names_uniprotkb": "Trans-acting T-cell-specific transcription factor GATA-3; GATA-binding factor 3", "protein_names_refseq": "GATA-binding factor 3; trans-acting T-cell-specific transcription factor GATA-3 isoform 1; trans-acting T-cell-specific transcription factor GATA-3", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); hypoparathyroidism-retardation-dysmorphism syndrome (Disease Ontology:DOID:0060348); hypoparathyroidism-deafness-renal disease syndrome (Disease Ontology:DOID:0060878); sensorineural hearing loss (Disease Ontology:DOID:10003); hypoparathyroidism (Disease Ontology:DOID:11199); nephrosis (Disease Ontology:DOID:2527); asthma (Disease Ontology:DOID:2841); autoimmune thyroiditis (Disease Ontology:DOID:7188)", "pathway": " (hsa:2625); (R-HSA-5689880); (R-HSA-6785807); (R-HSA-8939236); (R-HSA-9018519); (R-HSA-9830364); (R-HSA-983231); (R-HSA-9938206); (R-HSA-9976102)", "pathway_count": 9, "publication_count": 370, "publication_id_list": "10023775;10219247;10369418;10444327;10500157;10510379;10586089;10828826;10867011;10873660;10935639;10982817;11010967;11034064;11042108;11058569;11062261;11084045;11103799;11104795;11120780;11136970;11165043;11237011;11242053;11278437;11278729;11345900;11356008;11389161;11404481;11410592;11452016;11463377;11566882;11581164;11682626;11744692;11751636;11847229;11895428;11923872;11950885;11960372;12032298;12134158;12223527;12242343;12427746;12498683;12600988;12612073;12832402;12917689;12917691;12959972;14631847;14634100;14661020;14675539;14712222;15001666;15020713;15053880;15116091;15247287;15261459;15276198;15282324;15343269;15345050;15514030;15584925;15662016;15678106;15710388;15805299;15869882;15916963;15950906;15986123;16007214;16009131;16046058;16048438;16054028;16087863;16107692;16109788;16113099;16205632;16214042;16236134;1630448;1630819;16397018;16451196;16510571;16540365;16606674;16901786;16964248;16980581;17013392;17027967;17196961;17224074;17277772;17290220;17427945;17443180;17458857;17463000;17495528;17510434;17572495;17637753;17666587;17690249;17873522;17980597;17981138;18172164;18187655;18219272;18243101;18256232;1827068;18280240;18322535;18353781;18358809;18447642;18467330;18476782;18533032;18632802;18636086;18644974;18701449;1871134;18762174;18805503;19001364;19015242;19020303;19098913;19124156;19135894;19185846;19188362;19274700;19293402;19295514;19321454;19363159;19383337;19397496;19398555;19424180;19690332;19718048;19838211;19874889;19910467;20096447;2017177;20219941;20220130;20228808;20368735;20493732;20498280;2050118;20501646;20530532;20570965;20627800;20682797;20887958;21102457;21106759;21151129;21209280;21239494;21252155;21362556;21445275;21571218;21571647;21573489;21596315;21659512;21689689;21730069;2181374;21835891;21849505;21878914;218813;21934649;21937440;21940756;21962518;21994466;22012064;22029577;22046235;22056668;22085928;22128162;22205702;22216260;22265404;22383755;22492511;22545144;22693070;22704330;22851691;22897851;23086340;23124025;23142663;23145106;23159851;23172665;23172872;23192763;23303788;23395819;23403292;23435229;23455323;23481700;23486064;23555662;23723241;23824326;23824597;23825189;23906331;23967200;24056413;24097101;24167369;24260525;24371278;24493797;24715725;24735615;24743777;24854081;24885040;24896179;24973012;24998469;25043025;25197364;25234944;25296600;25305019;25365482;25394790;25433557;25479686;25505266;25542856;25576301;25578727;25633194;25663755;25674852;25728767;26056233;26153859;26154972;26204489;26462610;26479350;26514990;26845023;27053161;27062924;27137657;27846572;27862975;27886276;28218747;28498822;28539435;28832583;28904123;2919170;29242379;29437277;29493099;29508533;3045126;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32502341;32574038;3281094;32938616;33298915;33592498;34087483;3409321;34211107;3498214;35051231;35318648;35580925;3677090;37340703;37938771;38353459;38624056;38908022;39080124;39090342;39991625;7510216;7512451;7529288;7559524;7578059;7795521;7796300;7898939;7907877;7935485;7937828;8085155;8195246;8197458;8419924;8602263;8621622;8662638;8663118;8668165;8797861;8816476;8816495;8876171;9013879;9065479;9201922;9230307;9326583;9331217;9338790;9388265;9422515;9611253;9651359;9671459;9723655;9731700;9736340;9822675;9874564;9927674", "class_list": "", "function": "Association of GATA3 expression in triple-positive breast cancer with overall survival and immune cell infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of BCL2, TP53, FOXA1, and GATA3 in pTa bladder cancer recurrence., [RefSeq, PubMed]; HER2 overexpression in urothelial carcinoma with GATA3 and PPARG copy number gains., [RefSeq, PubMed]; Increased level of GATA3-AS1 long non-coding RNA is correlated with the upregulation of GATA3 and IL-4 genes in multiple sclerosis patients. Publication Status: Online-Only, [RefSeq, PubMed]; Recurrent GATA3 P409Afs*99 Frameshift Extension Mutations in Sweat-gland Carcinoma With Neuroendocrine Differentiation., [RefSeq, PubMed]; This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]., [RefSeq]; Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5'-AGATAG-3'. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses. Positively regulates ASB2 expression (By similarity). Coordinates macrophage transcriptional activation and UCP2-dependent metabolic reprogramming in response to IL33. Upon tissue injury, acts downstream of IL33 signaling to drive differentiation of inflammation-resolving alternatively activated macrophages., [UniProtKB, PubMed, UniProtKB]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 92, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q5VWG7;Q5VWG8;Q96J16", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0032736 positive regulation of interleukin-13 production;GO:0032754 positive regulation of interleukin-5 production;GO:0035457 cellular response to interferon-alpha;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 38.1, "record_id": "P23771-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16778-1", "uniprot_id": [ { "id": "H2B2E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16778", "type": "external" } ], "mass": 13920.0, "length": 126, "protein_name": "Histone H2B type 2-E", "gene_name": "H2BC21", "organism": "Human", "refseq_name": "histone H2B type 2-E", "refseq_ac": [ { "id": "NP_003519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003519", "type": "external" } ], "gene_names_uniprotkb": "H2BC21; H2BFQ; HIST2H2BE", "gene_names_refseq": "GL105; H2B-GL105; H2B.1; H2BC21; H2BE; H2BFQ; H2BGL105; H2BQ; H2B; HIST2H2BE", "protein_names_uniprotkb": "Histone H2B type 2-E; H2B-clustered histone 21; H2B/q; Histone H2B-GL105; Histone H2B.q", "protein_names_refseq": "H2B histone family, member Q; histone 2, H2be; histone H2B type 2-E; histone H2B-GL105; histone H2B.q; histone cluster 2 H2B family member e; histone cluster 2, H2be", "tax_id": 9606, "disease": "", "pathway": " (hsa:8349); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-1912408); (R-HSA-201722); (R-HSA-212300); (R-HSA-2299718); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559586); (R-HSA-3214815); (R-HSA-3214847); (R-HSA-427359); (R-HSA-427389); (R-HSA-427413); (R-HSA-5250924); (R-HSA-5334118); (R-HSA-5578749); (R-HSA-5617472); (R-HSA-5625886); (R-HSA-5689880); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-606279); (R-HSA-68616); (R-HSA-69473); (R-HSA-73728); (R-HSA-73772); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-9018519); (R-HSA-912446); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9616222); (R-HSA-9670095); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-977225); (R-HSA-9821002); (R-HSA-9821993); (R-HSA-9841922); (R-HSA-9843940); (R-HSA-9843970); (R-HSA-9845323); (R-HSA-9909649); (R-HSA-9918481); (R-HSA-9937850); (R-HSA-9940465); (R-HSA-9940951); (R-HSA-9943411); (R-HSA-9943962); (R-HSA-9970672)", "pathway_count": 58, "publication_count": 1240, "publication_id_list": 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"class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]; HIV-Infected Patients: Cross Site-Specific Hydrolysis of H2a and H2b Histones and Myelin Basic Protein with Antibodies against These Three Proteins. Publication Status: Online-Only, [RefSeq, PubMed]; Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid., [UniProtKB]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. The protein has antibacterial and antifungal antimicrobial activity. [provided by RefSeq, Aug 2015]., [RefSeq]; Nucleotide variation in histone H2BL drives crossalk of histone modification and promotes tumour cell proliferation by upregulating c-Myc., [RefSeq, PubMed]; Overexpression of ring finger protein 20 inhibits the progression of liver fibrosis via mediation of histone H2B lysine 120 ubiquitination., [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": 1, "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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A3KMC7;A8K110;Q4KMY1;Q5QNX0;Q9UE88", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0000786 nucleosome", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0050830 defense response to Gram-positive bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0006325 chromatin organization;GO:0006334 nucleosome assembly", "synthesized_glycan_count": 0, "hit_score": 124.3, "record_id": "Q16778-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4Y5-1", "uniprot_id": [ { "id": "GSTO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4Y5", "type": "external" } ], "mass": 28254.0, "length": 243, "protein_name": "Glutathione S-transferase omega-2", "gene_name": "GSTO2", "organism": "Human", "refseq_name": "glutathione S-transferase omega-2 isoform 2", "refseq_ac": [ { "id": "NP_001177942", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177942", "type": "external" } ], "gene_names_uniprotkb": "GSTO2", "gene_names_refseq": "GSTO 2-2; GSTO2; bA127L20.1", "protein_names_uniprotkb": "Glutathione S-transferase omega-2; 1.20.4.2; 1.8.5.1; 2.5.1.18; GSTO 2-2; GSTO-2; Glutathione S-transferase omega 2-2; Glutathione-dependent dehydroascorbate reductase; MMA(V) reductase; Monomethylarsonic acid reductase", "protein_names_refseq": "GSTO-2; MMA(V) reductase; bA127L20.1 (novel glutathione-S-transferase); glutathione S-transferase omega 2-2; glutathione S-transferase omega-2 isoform 2; glutathione-S-transferase-like protein; glutathione-dependent dehydroascorbate reductase; monomethylarsonic acid reductase", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 6 (Disease Ontology:DOID:0060198); Alzheimer's disease (Disease Ontology:DOID:10652); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:119391); (R-HSA-156590); (R-HSA-196836)", "pathway_count": 3, "publication_count": 53, "publication_id_list": "10329152;10471399;10556483;10556521;10587441;10783391;10862609;11327815;11396616;11904223;12042665;12211029;12618591;12627223;14742434;15040808;15159516;15917099;15942673;15970797;16081649;16298388;16548513;20083122;20085333;21106529;21113667;21668448;22306368;22522127;23162467;28834231;32161166;3372534;34726807;34826418;36676788;3770744;38732205;39154227;4768551;7668255;8182750;8203914;8331657;8431482;8513896;8703034;8812420;9228080;9278457;9551553;9839448", "class_list": "", "function": "Association of GSTO1, GSTO2, GSTP1, GPX1 and SOD2 polymorphism with primary open angle glaucoma., [RefSeq, PubMed]; Exhibits glutathione-dependent thiol transferase activity. Has high dehydroascorbate reductase activity and may contribute to the recycling of ascorbic acid. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA)., [UniProtKB, PubMed]; GSTO2 ameliorates human neuroblastoma cell apoptosis, inflammation, ferroptosis, and oxidative stress by upregulating GPX4 expression in intracerebral hemorrhage., [RefSeq, PubMed]; Loss of GSTO2 contributes to cell growth and mitochondria function via the p38 signaling in lung squamous cell carcinoma., [RefSeq, PubMed]; Molecular cloning; GSTO2 was ubiquitously expressed at a low level, with a higher expression in pancreas and prostate, [RefSeq, PubMed]; No association either with age-at-onset in AD cases or with disease risk in the case-control cohort but haplotype analysis revealed a modest association of one haplotype with AD risk (p = 0.04) GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Our results do not confirm an association between PD and frequency of the polymorphisms investigated: hGSTO1*A140D, & hGSTO1*E155del., [RefSeq, PubMed]; The GSTO2 (rs156697) Polymorphism Modifies Diabetic Nephropathy Risk. Publication Status: Online-Only, [RefSeq, PubMed]; The Role of Glutathione Transferase Omega-Class Variant Alleles in Individual Susceptibility to Ovarian Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]., [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": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K771;B4DJW6;E7ESD6;Q49TW5;Q5GM70;Q5JU15;Q86WP3", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "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": "5.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.2", "type": "external" }, { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "1.20.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.20.4.2", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" } ], "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0042802 identical protein binding;GO:0016491 oxidoreductase activity;GO:0045174 glutathione dehydrogenase (ascorbate) activity;GO:0050610 methylarsonate reductase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0019852 L-ascorbic acid metabolic process;GO:0071243 cellular response to arsenic-containing substance;GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9H4Y5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05014-1", "uniprot_id": [ { "id": "IFNA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P05014", "type": "external" } ], "mass": 21808.0, "length": 189, "protein_name": "Interferon alpha-4", "gene_name": "IFNA4", "organism": "Human", "refseq_name": "interferon alpha-4 precursor", "refseq_ac": [ { "id": "NP_066546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066546", "type": "external" } ], "gene_names_uniprotkb": "IFNA4", "gene_names_refseq": "IFN-alpha4a; IFNA4; INFA4", "protein_names_uniprotkb": "Interferon alpha-4; IFN-alpha-4; Interferon alpha-4B; Interferon alpha-76; Interferon alpha-M1", "protein_names_refseq": "IFN-alpha-4; interferon alpha-4 precursor; interferon alpha-4B; interferon alpha-76; interferon alpha-M1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3441); (R-HSA-909733); (R-HSA-912694); (R-HSA-933541); (R-HSA-9705671); (R-HSA-983231); (R-HSA-9833109)", "pathway_count": 7, "publication_count": 187, "publication_id_list": "10022928;10395669;10421793;10542297;10581243;10982844;11042108;11062261;11073981;11092454;11242053;11337497;11377645;11404376;11585831;11694501;11744692;11751636;11895428;11950885;12019269;12029096;12032298;12133833;12134158;12427746;12604599;12692549;12759408;12766484;12842042;14769151;15020713;15047845;15208624;15247287;15312780;15361868;15449939;15710388;15778442;16009940;16054028;16125763;16127453;16153868;16171819;1630448;16710296;16914100;16987978;17027967;17196961;17251292;1730654;17327220;17351669;17392790;17969444;18035202;18508557;18575461;19193793;1922111;19293402;19479062;19668221;20043992;20130243;20363976;20530532;20627800;20643137;21632562;218813;2211721;22383950;22619329;22941947;23061660;23121362;23453971;24417533;24722368;25371710;26000985;26845023;30485383;30558248;31850239;32032529;32111355;32113509;32353859;32428392;32511913;32574262;32589897;32661006;32726803;32728199;32758689;32862111;32953130;32979938;33024073;33060197;33097660;33110251;33117408;33189161;33193462;33349665;33360543;33372174;33372854;33396578;33396605;33440148;33479219;33495715;33514628;33567255;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33963333;33989516;33990585;34021074;34054808;34084167;3409321;34110168;34166398;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34597346;35102342;35643212;37051252;4057246;6089830;6162102;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8662638;8702790;8816476;8943354;9065479;9096384;9121453;9230307;9242679;9326583;9331217;9334213;9335434;9422515;9425112;9660177;9660935;9822609;9847332;9861020;9927674", "class_list": "", "function": "Heterozygous IFNA4 variants is a cause of impaired function and CD-susceptibility genes in Chinese individuals from multiple center based study. Publication Status: Online-Only, [RefSeq, PubMed]; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase., [UniProtKB]; The mechanism of action of Spi-B in the transcriptional activation of the interferon-alpha4 gene., [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": 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": 2, "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": "P13358;Q14CS4;Q5VV15", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0005132 type I interferon receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0002312 B cell activation involved in immune response;GO:0051607 defense response to virus;GO:0060337 type I interferon-mediated signaling pathway;GO:0009615 response to virus;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 18.8, "record_id": "P05014-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22460-1", "uniprot_id": [ { "id": "KCNA5_HUMAN", "url": "https://www.uniprot.org/uniprot/P22460", "type": "external" } ], "mass": 67228.0, "length": 613, "protein_name": "Potassium voltage-gated channel subfamily A member 5", "gene_name": "KCNA5", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily A member 5", "refseq_ac": [ { "id": "NP_002225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002225", "type": "external" } ], "gene_names_uniprotkb": "KCNA5", "gene_names_refseq": "ATFB7; HCK1; HK2; HPCN1; KCNA5; KV1.5; PCN1", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily A member 5; HPCN1; Voltage-gated potassium channel HK2; Voltage-gated potassium channel subunit Kv1.5", "protein_names_refseq": "cardiac potassium channel; insulinoma and islet potassium channel; potassium channel 1; potassium channel, voltage gated shaker related subfamily A, member 5; potassium voltage-gated channel subfamily A member 5; potassium voltage-gated channel, shaker-related subfamily, member 5; voltage-gated potassium channel HK2; voltage-gated potassium channel protein Kv1.5; voltage-gated potassium channel subunit Kv1.5", "tax_id": 9606, "disease": "familial atrial fibrillation (Disease Ontology:DOID:0050650); episodic ataxia type 1 (Disease Ontology:DOID:0050989); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); epilepsy (Disease Ontology:DOID:1826); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:3741); (R-HSA-1296072); (R-HSA-5576890)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "10219239;11524461;12130714;1349297;15266014;16466689;16772329;16939434;16949586;16959974;17261810;17267549;19413330;1986382;2001794;20018952;20393197;21231794;24936649;26992070;27147833;27862975;29437277;29508533;30524438;31530632;32502341;33007923;33267786;33572906;36917789;38179652;7586312;8315383;8505626;9230439", "class_list": "", "function": "Computational Studies Show How the H463R Mutation Turns hKv1.5 into an Inactivation State., [RefSeq, PubMed]; Exhibits a faster depolarization rate, reduced voltage-dependent recovery from inactivation and an excessive cumulative inactivation., [UniProtKB, PubMed]; KV1.5-KVbeta1.3 Recycling Is PKC-Dependent. Publication Status: Online-Only, [RefSeq, PubMed]; Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension., [RefSeq, PubMed]; Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]., [RefSeq]; Selective expression of KCNA5 and KCNB1 genes in gastric and colorectal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:12130714). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (PubMed:12130714). Homotetrameric channels display rapid activation and slow inactivation (PubMed:12130714, PubMed:8505626). Required for normal electrical conduction including formation of the infranodal ventricular conduction system and normal action potential configuration, as a result of its interaction with XIRP2 (By similarity). May play a role in regulating the secretion of insulin in normal pancreatic islets., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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, "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": 3, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4KKT8;Q4VAJ1;Q4VAJ2;Q9UDA4", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization;GO:0015271 outward rectifier potassium channel activity;GO:0005102 signaling receptor binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0034705 potassium channel complex;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0098914 membrane repolarization during atrial cardiac muscle cell action potential;GO:0042391 regulation of membrane potential;GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0001666 response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P22460-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02776-1", "uniprot_id": [ { "id": "PLF4_HUMAN", "url": "https://www.uniprot.org/uniprot/P02776", "type": "external" } ], "mass": 10845.0, "length": 101, "protein_name": "Platelet factor 4", "gene_name": "PF4", "organism": "Human", "refseq_name": "platelet factor 4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_002610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002610", "type": "external" } ], "gene_names_uniprotkb": "PF4; CXCL4; SCYB4", "gene_names_refseq": "CXCL4; PF-4; PF4; SCYB4", "protein_names_uniprotkb": "Platelet factor 4; C-X-C motif chemokine 4; Endothelial cell growth inhibitor; Iroplact; Oncostatin-A; PF-4", "protein_names_refseq": "C-X-C motif chemokine 4; chemokine (C-X-C motif) ligand 4; iroplact; oncostatin-A; platelet factor 4 isoform 1 precursor", "tax_id": 9606, "disease": "antiphospholipid syndrome (Disease Ontology:DOID:2988); systemic scleroderma (Disease Ontology:DOID:418); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); retinal degeneration (Disease Ontology:DOID:8466); diabetic retinopathy (Disease Ontology:DOID:8947); acute myocardial infarction (Disease Ontology:DOID:9408); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:5196); (R-HSA-114608); (R-HSA-202733); (R-HSA-380108); (R-HSA-418594); (R-HSA-8936459); (R-HSA-9769739)", "pathway_count": 7, "publication_count": 210, "publication_id_list": "10026158;10229797;10606205;10617663;10640743;10706668;10725696;10725697;10764623;10781587;11007482;11035113;11060282;11207550;11237011;11238108;11256994;11468158;11564780;11779189;11812992;11833835;12052963;12070135;12120503;12149255;12208882;12469115;12483298;12554737;12576332;12782713;12884299;12907439;1435334;14529530;14615387;14630798;15000751;15067078;15297306;15528364;15681301;15721307;1591491;15951850;16107333;16161994;1618828;16216671;16258728;16297198;16585556;16619025;16628190;16634148;16691243;16737840;16783819;16923326;1695112;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;1744577;17452516;17505016;17506785;17525755;17563375;17580308;17598008;17600130;17615384;17625065;17635713;18174362;18316480;1840701;18434541;18577758;1891716;1902833;19114653;19279206;19297154;1930190;19509293;20002784;20339092;20427285;2078213;20876458;21129147;21193412;21252065;21659548;21725049;21932952;22144186;2217207;22618708;2271516;22777353;22786881;23245326;23536183;23640497;23683607;2384594;23945545;24043627;2423119;24469069;24554904;24764293;2534964;2538457;25713144;25855704;26010396;26154972;267922;27044744;2748346;2834384;29419409;29557506;2970963;29930254;30429286;30918026;3098319;31262782;31439947;31848261;32387766;32488085;32492406;3260265;32983136;34509645;34986347;35701499;36951953;3744129;37726033;38307410;38540666;38547695;3863104;39304856;468991;601757;6323392;6445090;6457647;7499257;7509040;7521878;7547867;7602097;7622448;7642634;7644496;7679328;7851893;7875320;7937899;8015379;8031770;8048929;8144529;8163559;8166770;8314844;8383238;8406495;8467233;8639485;8639781;8849694;893407;9024663;9052782;9164944;9166430;9169459;9169774;9207005;9218519;9242610;9252363;9276730;9295288;9382878;9390561;9395524;9459334;9463416;9469622;9531587;9618518;9693095;9763524", "class_list": "", "function": "Chemokine released during platelet aggregation that plays a role in different biological processes including hematopoiesis, cell proliferation, differentiation, and activation (PubMed:29930254, PubMed:9531587). Acts via different functional receptors including CCR1, CXCR3A or CXCR3B (PubMed:18174362, PubMed:29930254). Upon interaction with CXCR3A receptor, induces activated T-lymphocytes migration mediated via downstream Ras/extracellular signal-regulated kinase (ERK) signaling (PubMed:18174362, PubMed:24469069). Neutralizes the anticoagulant effect of heparin by binding more strongly to heparin than to the chondroitin-4-sulfate chains of the carrier molecule. Plays a role in the inhibition of hematopoiesis and in the maintenance of hematopoietic stem cell (HSC) quiescence (PubMed:9531587). Chemotactic for neutrophils and monocytes via CCR1 (PubMed:29930254). Inhibits endothelial cell proliferation. In cooperation with toll-like receptor 8/TLR8, induces chromatin remodeling and activates inflammatory gene expression via the TBK1-IRF5 axis (PubMed:35701499). In addition, induces myofibroblast differentiation and collagen synthesis in different precursor cells, including endothelial cells, by stimulating endothelial-to-mesenchymal transition (PubMed:34986347). Interacts with thrombomodulin/THBD to enhance the activation of protein C and thus potentiates its anticoagulant activity (PubMed:9395524)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Hyperactivation of beta-catenin signal in hepatocellular carcinoma recruits myeloid-derived suppressor cells through PF4-CXCR3 axis., [RefSeq, PubMed]; Platelet factor 4 exhibits antimicrobial activity against Plasmodium falciparum., [RefSeq, PubMed]; Platelet factor 4 promotes deep venous thrombosis by regulating the formation of neutrophil extracellular traps., [RefSeq, PubMed]; The Binding of the SARS-CoV-2 Spike Protein to Platelet Factor 4: A Proposed Mechanism for the Generation of Pathogenic Antibodies. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the CXC chemokine family. This chemokine is released from the alpha granules of activated platelets in the form of a homotetramer which has high affinity for heparin and is involved in platelet aggregation. This protein is chemotactic for numerous other cell type and also functions as an inhibitor of hematopoiesis, angiogenesis and T-cell function. The protein also exhibits antimicrobial activity against Plasmodium falciparum. [provided by RefSeq, Oct 2014]., [RefSeq]; Type 2-like polarization and elevated CXCL4 secretion of monocyte derived macrophages upon internalization of plasma-derived exosomes from head and neck cancer patients. 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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53X61;Q9UC64;Q9UC65", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0048018 receptor ligand activity;GO:0008009 chemokine activity;GO:0045236 CXCR chemokine receptor binding;GO:0048248 CXCR3 chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0031012 extracellular matrix;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0006954 inflammatory response;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0010628 positive regulation of gene expression;GO:0042127 regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 21.1, "record_id": "P02776-1", "record_type": "protein", "filter_code": "0001000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43765-1", "uniprot_id": [ { "id": "SGTA_HUMAN", "url": "https://www.uniprot.org/uniprot/O43765", "type": "external" } ], "mass": 34063.0, "length": 313, "protein_name": "Small glutamine-rich tetratricopeptide repeat-containing protein alpha", "gene_name": "SGTA", "organism": "Human", "refseq_name": "small glutamine-rich tetratricopeptide repeat-containing protein alpha", "refseq_ac": [ { "id": "NP_003012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003012", "type": "external" } ], "gene_names_uniprotkb": "SGTA; SGT1; SGT", "gene_names_refseq": "SGT1; SGTA; SGT; Vpu; alphaSGT; hSGT", "protein_names_uniprotkb": "Small glutamine-rich tetratricopeptide repeat-containing protein alpha; Alpha-SGT; UBP; Vpu-binding protein", "protein_names_refseq": "UBP; alpha-SGT; protein containing three tetratricopeptide repeats; small glutamine rich tetratricopeptide repeat containing alpha; small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha; small glutamine-rich tetratricopeptide repeat-containing protein alpha; viral protein U-binding protein; vpu-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6449); (R-HSA-9609523)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "10567422;11230166;11237011;15302935;15708368;16580629;16580632;16777091;16964243;17034881;17081983;17382883;18477612;18669648;18759457;19608861;19651622;19664995;19690332;20068231;20166139;20375064;20676083;21406692;21444755;21466504;21636303;21743475;23041287;23129660;23142665;23186163;23246001;23301498;23533635;24275569;24392163;24397554;24675744;24715725;25179605;25415308;25418920;25502872;25535373;25576301;25713138;26154972;26675233;26992070;27193484;27226539;27458190;27600516;27862975;27920218;28104892;28218747;28228285;28510447;28832583;28904123;29242231;29242379;29437277;29557506;29632046;30315122;30429286;30524438;30626607;30779550;31092671;31154438;31530632;31844290;32157095;32161166;32265295;32350084;32357974;32387766;32897882;32938616;32983136;33298915;33592498;33757575;33912179;33968037;33981976;34357683;35051231;35154160;35251023;35561310;35580925;35895711;36010968;36241641;36284347;37938771;38665916;40914422;9573291;9740675", "class_list": "", "function": "(Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection via interaction with DNAJB12, DNAJB14 and HSPA8/Hsc70 (PubMed:24675744)., [UniProtKB, PubMed]; Co-chaperone that binds misfolded and hydrophobic patches-containing client proteins in the cytosol. Mediates their targeting to the endoplasmic reticulum but also regulates their sorting to the proteasome when targeting fails (PubMed:28104892). Functions in tail-anchored/type II transmembrane proteins membrane insertion constituting with ASNA1 and the BAG6 complex a targeting module (PubMed:28104892). Functions upstream of the BAG6 complex and ASNA1, binding more rapidly the transmembrane domain of newly synthesized proteins (PubMed:25535373, PubMed:28104892). It is also involved in the regulation of the endoplasmic reticulum-associated misfolded protein catabolic process via its interaction with BAG6: collaborates with the BAG6 complex to maintain hydrophobic substrates in non-ubiquitinated states (PubMed:23129660, PubMed:25179605). Competes with RNF126 for interaction with BAG6, preventing the ubiquitination of client proteins associated with the BAG6 complex (PubMed:27193484). Binds directly to HSC70 and HSP70 and regulates their ATPase activity (PubMed:18759457)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; SGTA associates with intracellular aggregates in neurodegenerative diseases. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]., [RefSeq]; USP5 enhances SGTA mediated protein quality control. Publication Status: Online-Only, [RefSeq, 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": 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": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D6W610;Q6FIA9;Q9BTZ9", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:1904288 BAT3 complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006620 post-translational protein targeting to endoplasmic reticulum membrane;GO:0036503 ERAD pathway;GO:2000059 negative regulation of ubiquitin-dependent protein catabolic process;GO:0071816 tail-anchored membrane protein insertion into ER membrane;GO:1904294 positive regulation of ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "O43765-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15506-1", "uniprot_id": [ { "id": "SP17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15506", "type": "external" } ], "mass": 17406.0, "length": 151, "protein_name": "Sperm surface protein Sp17", "gene_name": "SPA17", "organism": "Human", "refseq_name": "sperm surface protein Sp17", "refseq_ac": [ { "id": "NP_059121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059121", "type": "external" } ], "gene_names_uniprotkb": "SPA17; SP17", "gene_names_refseq": "CT22; SP17-1; SP17; SPA17", "protein_names_uniprotkb": "Sperm surface protein Sp17; CT22; Cancer/testis antigen 22; Sp17-1; Sperm autoantigenic protein 17; Sperm protein 17", "protein_names_refseq": "cancer/testis antigen 22; sperm protein 17; sperm surface protein Sp17", "tax_id": 9606, "disease": "Merkel cell carcinoma (Disease Ontology:DOID:3965)", "pathway": " (hsa:53340)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "12213290;12393185;17551920;25418920;25505266;26263201;26529027;28904123;29786170;30379171;30410026;30779550;31848261;32157095;33392854;33912179;33968037;36177795;36215666;36284347;8688458", "class_list": "", "function": "ANXA2, SP17, SERPINA5, PRDX2 genes, and sperm DNA fragmentation differentially represented in male partners of infertile couples with normal and abnormal sperm parameters., [RefSeq, PubMed]; Serum Sp17 Autoantibody Serves as a Potential Specific Biomarker in Patients with SAPHO Syndrome., [RefSeq, PubMed]; Sp17 has different expression patterns in cancer cell lines as compared to normal non-testes tissues and a potential pathogenic role in diseased cells, [RefSeq, PubMed]; Sperm surface zona pellucida binding protein. Helps to bind spermatozoa to the zona pellucida with high affinity. Might function in binding zona pellucida and carbohydrates (By similarity)., [UniProtKB]; This gene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha regulatory subunit (RIIa) while the C-terminus has an IQ calmodulin-binding motif. The central portion of the protein has carbohydrate binding motifs and likely functions in cell-cell adhesion. The protein was initially characterized by its involvement in the binding of sperm to the zona pellucida of the oocyte. Recent studies indicate that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. A retrotransposed pseudogene is present on chromosome 10q22.[provided by RefSeq, Jan 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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "B2R4F2;Q9BXF7", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005929 cilium;GO:0031514 motile cilium;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0003351 epithelial cilium movement involved in extracellular fluid movement;GO:0007283 spermatogenesis;GO:0007339 binding of sperm to zona pellucida;GO:0007338 single fertilization", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q15506-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15169-1", "uniprot_id": [ { "id": "AXIN1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15169", "type": "external" } ], "mass": 95635.0, "length": 862, "protein_name": "Axin-1", "gene_name": "AXIN1", "organism": "Human", "refseq_name": "axin-1 isoform a", "refseq_ac": [ { "id": "NP_003493", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003493", "type": "external" } ], "gene_names_uniprotkb": "AXIN1; AXIN", "gene_names_refseq": "AXIN1; AXIN; CMDOH; PPP1R49", "protein_names_uniprotkb": "Axin-1; Axis inhibition protein 1; hAxin", "protein_names_refseq": "axin-1 isoform a; axis inhibition protein 1; axis inhibitor 1; fused, mouse, homolog of; protein phosphatase 1, regulatory subunit 49", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); urinary bladder cancer (Disease Ontology:DOID:11054); lung cancer (Disease Ontology:DOID:1324); cancer (Disease Ontology:DOID:162); colon cancer (Disease Ontology:DOID:219); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684); caudal duplication (MONDO:MONDO:0011928); craniometadiaphyseal osteosclerosis with hip dysplasia (MONDO:MONDO:0957832)", "pathway": " (hsa:8312); (R-HSA-195253); (R-HSA-196299); (R-HSA-201681); (R-HSA-4641257); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5689880); (R-HSA-8931987); (R-HSA-8939256); (R-HSA-9018519)", "pathway_count": 18, "publication_count": 404, "publication_id_list": "10023660;10092233;10196136;10198061;10421629;10428961;10444327;10481074;10487827;10500157;10581160;10684251;10698523;10700176;10749138;10811618;10828826;10862053;10873660;10921899;10982817;11010967;11029007;11034064;11103799;11136970;11165043;11237011;11336703;11345900;11357136;11375957;11410592;11448771;11452016;11493532;11522655;11566882;11581164;11682626;11707456;11738041;11746989;11861647;11923872;11955436;12000790;12067995;12101426;12192039;12205098;12223464;12439748;12474228;12498683;12554650;12612073;12805222;12820959;12917689;12917691;12959972;14631847;14636582;14661020;14675539;14731402;14981260;15001666;15053880;15073180;15084453;15208637;15262978;15276198;15282324;15306667;15327769;15343269;15345050;15454084;15459103;15514030;15681612;15735151;15916963;15986123;16009131;16046058;16082208;16087863;16113099;16116452;16214042;16280981;1630819;16341016;16341017;16554443;16601693;16723543;16753179;16773576;16884355;16890161;16901786;16964248;16971168;16980581;17013392;17143292;17183061;17204608;17210684;17234765;17277772;17290220;17318175;17443180;17463000;17495528;17510365;17510434;17529994;17569865;17637753;17666587;17690249;17873522;17980597;17981138;18077588;18172164;18187655;18219272;18256232;18281465;18311776;18322535;18339531;18358809;18362152;18423204;18467330;18476782;18491316;18533032;18606139;18632802;18632848;18636086;18669648;18757411;18762174;18805503;19000841;19001364;19015242;19020303;19061640;19098913;19107203;19125156;19135894;19188362;19237556;19274700;19295514;19321454;19363159;19383337;19398555;19424180;19619488;19651622;19718048;19759537;19760609;19802005;19838211;19874889;19910467;20004982;20096447;20219941;20220130;20227366;20228808;20368735;20498280;20501646;20547749;20570965;20682797;20858899;21106759;21151129;21183070;21183076;21239494;21248786;21252990;21362556;21383061;21445275;21478859;21571647;21573489;21596315;21659512;21799911;2181374;21835891;21849505;21875946;21878914;21934649;21940452;21940756;21962518;22000856;22014570;22029577;22056668;22085928;22101459;22128162;22216260;22265404;22411803;22424782;22438566;22440753;22492511;22544926;22545144;22653731;22704330;22761442;22773843;23074275;23144924;23145106;23155463;23159851;23172872;23186163;23192763;23256519;23303788;23395819;23403292;23435229;23481700;23486064;23579495;23723241;23791946;23824326;23825189;23906331;24056413;24167369;24260525;24371278;24493797;24715725;24735615;24854081;24885040;24896179;24973012;24998469;25197364;25296600;25305019;25365482;25433557;25542856;25576301;25578727;25633194;25645385;25663755;25674852;25728767;26056233;26153859;26154972;26204489;26375851;26462610;26479350;26735887;26916619;26992070;27062924;27098453;27600516;27846572;27862975;27886276;27920218;28539435;28546513;28649982;28829046;28832583;28904123;2919170;29242379;29331515;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30429286;3045126;30524438;30779550;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;3281094;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34932366;3498214;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;3677090;37582359;38715121;38848383;38880668;38905707;38972426;7559524;7578059;7935485;7937828;8195246;8197458;8259518;8259519;8419924;8638126;8757136;8876171;9034327;9065402;9135132;9201922;9230313;9338790;9388265;9391096;9482734;9501980;9556553;9601641;9611253;9635432;9671459;9731700;9920888;9990852", "class_list": "", "function": "AXIN1 mutations in nonsyndromic craniosynostosis. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling (PubMed:12192039, PubMed:27098453, PubMed:28829046). Controls dorsoventral patterning via two opposing effects; down-regulates CTNNB1 to inhibit the Wnt signaling pathway and ventralize embryos, but also dorsalizes embryos by activating a Wnt-independent JNK signaling pathway (PubMed:12192039). In Wnt signaling, probably facilitates the phosphorylation of CTNNB1 and APC by GSK3B (PubMed:12192039). Enhances TGF-beta signaling by recruiting the RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7 (PubMed:16601693). Also a component of the AXIN1-HIPK2-TP53 complex which controls cell growth, apoptosis and development (PubMed:17210684). Facilitates the phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation (PubMed:17210684). Activates the AMP-activated protein kinase (AMPK) in response to calorie restriction by acting as a molecular adapter: recruited to late endosome membrane by the V-ATPase complex downstream of TULP3, and mediates association between STK11 and its AMPK substrates PRKAA1 and/or PRKAA2, leading to AMPK activation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Hypoxia exposure induces lactylation of Axin1 protein to promote glycolysis of esophageal carcinoma cells., [RefSeq, PubMed]; Investigating AXIN1 gene polymorphisms in Turkish children with cryptorchidism: A pilot study., [RefSeq, PubMed]; This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]; UBE2N promotes cell viability and glycolysis by promoting Axin1 ubiquitination in prostate cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Unraveling the impact of AXIN1 mutations on HCC development: Insights from CRISPR/Cas9 repaired AXIN1-mutant liver cancer cell lines. Publication Status: Online-Only, [RefSeq, 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, "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": 17, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 11, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4TT26;Q4TT27;Q86YA7;Q8WVW6;Q96S28", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019899 enzyme binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046330 positive regulation of JNK cascade;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0006915 apoptotic process;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 40.5, "record_id": "O15169-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L775-1", "uniprot_id": [ { "id": "EPMIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L775", "type": "external" } ], "mass": 70370.0, "length": 607, "protein_name": "EPM2A-interacting protein 1", "gene_name": "EPM2AIP1", "organism": "Human", "refseq_name": "EPM2A-interacting protein 1", "refseq_ac": [ { "id": "NP_055620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055620", "type": "external" } ], "gene_names_uniprotkb": "EPM2AIP1; KIAA0766; My007", "gene_names_refseq": "EPM2AIP1", "protein_names_uniprotkb": "EPM2A-interacting protein 1; Laforin-interacting protein", "protein_names_refseq": "EPM2A (laforin) interacting protein 1; EPM2A-interacting protein 1; laforin-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9852)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;12782127;18095154;18691976;21206982;22424782;23481700;24714562;24715725;25892735;26375851;26992070;27600516;28228285;28411811;28649982;28832583;28855257;28904123;29242379;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;31154438;31217245;31844290;31848261;31937595;31998317;32387766;32502341;32897882;32938616;32983136;33141586;33592498;33717175;33936100;33968037;34087483;34171305;34211107;34509645;34561969;35051231;35561310;35580925;36010968;36284347", "class_list": "", "function": "Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; The -93G>A polymorphism modifies the efficiency of MLH1/EPM2AIP1 transcription., [RefSeq, PubMed]; The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]., [RefSeq]; The EPM2AIP1 gene was identified and characterized in a screen for laforin-interacting proteins with a human brain cDNA library; the specificity of the interaction was confirmed; subcellular colocalization of laforin and EPM2AIP1 protein was demonstrated, [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "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": "O94866;Q9H3L3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005634 nucleus", "go_biological_process": "GO:0045725 positive regulation of glycogen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q7L775-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50461-1", "uniprot_id": [ { "id": "CSRP3_HUMAN", "url": "https://www.uniprot.org/uniprot/P50461", "type": "external" } ], "mass": 20969.0, "length": 194, "protein_name": "Cysteine and glycine-rich protein 3", "gene_name": "CSRP3", "organism": "Human", "refseq_name": "cysteine and glycine-rich protein 3 isoform 1", "refseq_ac": [ { "id": "NP_003467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003467", "type": "external" } ], "gene_names_uniprotkb": "CSRP3; CLP; MLP", "gene_names_refseq": "CLP; CMD1M; CMH12; CRP3; CSRP3; MLP", "protein_names_uniprotkb": "Cysteine and glycine-rich protein 3; CRP3; Cardiac LIM protein; Cysteine-rich protein 3; LIM domain protein, cardiac; Muscle LIM protein", "protein_names_refseq": "cardiac LIM domain protein; cysteine and glycine-rich protein 3 (cardiac LIM protein); cysteine and glycine-rich protein 3 isoform 1", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); hypertrophic cardiomyopathy 12 (Disease Ontology:DOID:0110318); dilated cardiomyopathy 1M (Disease Ontology:DOID:0110449); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); extrapyramidal and movement disease (Disease Ontology:DOID:13839); major depressive disorder (Disease Ontology:DOID:1470); autoimmune hepatitis (Disease Ontology:DOID:2048); opiate dependence (Disease Ontology:DOID:2559); asthma (Disease Ontology:DOID:2841); rhinitis (Disease Ontology:DOID:4483); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); congestive heart failure (Disease Ontology:DOID:6000); acute myeloid leukemia (Disease Ontology:DOID:9119); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:8048)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;12507422;12642359;15205937;15582318;18505755;19230835;19412328;19752190;24860983;24934443;27353086;29557506;33035702;35241752;36877346;7490106", "class_list": "", "function": "Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy., [RefSeq, PubMed]; LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3. Erratum:[Sci Rep. 2022 Mar 14;12(1):4363. doi: 10.1038/s41598-022-08526-0. PMID: 35288646] Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in early sarcomere organization. Overexpression in myotubes negatively regulates myotube differentiation. By association with isoform 1 and thus changing the CSRP3 isoform 1:CFL2 stoichiometry is proposed to down-regulate CFL2-mediated F-actin depolymerization., [UniProtKB, PubMed]; Positive regulator of myogenesis. Acts as a cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functional MYOD1:TCF3 isoform E47:MEF2A complex involved in myogenesis (By similarity). Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation (By similarity). The role in regulation of cytoskeleton dynamics by association with CFL2 is reported conflictingly: Shown to enhance CFL2-mediated F-actin depolymerization dependent on the CSRP3:CFL2 molecular ratio, and also shown to reduce the ability of CLF1 and CFL2 to enhance actin depolymerization (PubMed:19752190, PubMed:24934443). Proposed to contribute to the maintenance of muscle cell integrity through an actin-based mechanism. Can directly bind to actin filaments, cross-link actin filaments into bundles without polarity selectivity and protect them from dilution- and cofilin-mediated depolymerization; the function seems to involve its self-association (PubMed:24934443). In vitro can inhibit PKC/PRKCA activity (PubMed:27353086). Proposed to be involved in cardiac stress signaling by down-regulating excessive PKC/PRKCA signaling (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals., [RefSeq, PubMed]; This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [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, "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": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 15, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9P131;S4S7M7", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0008307 structural constituent of muscle;GO:0031433 telethonin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0030018 Z disc", "go_biological_process": "GO:0035995 detection of muscle stretch;GO:0072594 establishment of protein localization to organelle;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006874 intracellular calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "P50461-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULV0-1", "uniprot_id": [ { "id": "MYO5B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULV0", "type": "external" } ], "mass": 213672.0, "length": 1848, "protein_name": "Unconventional myosin-Vb", "gene_name": "MYO5B", "organism": "Human", "refseq_name": "unconventional myosin-Vb", "refseq_ac": [ { "id": "NP_001073936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073936", "type": "external" } ], "gene_names_uniprotkb": "MYO5B; KIAA1119", "gene_names_refseq": "DIAR2; MVID1; MYO5B; PFIC10", "protein_names_uniprotkb": "Unconventional myosin-Vb", "protein_names_refseq": "MYO5B variant protein; myosin-Vb; unconventional myosin-Vb", "tax_id": 9606, "disease": "microvillus inclusion disease (Disease Ontology:DOID:0060775); progressive familial intrahepatic cholestasis (Disease Ontology:DOID:0070221); cholestasis, progressive familial intrahepatic, 10 (MONDO:MONDO:0030810)", "pathway": " (hsa:4645); (R-HSA-432040)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "10649434;11034202;11076974;11237011;11495908;11968001;12194985;12801959;1373524;14514735;14592814;14701836;1510932;1534149;15703994;15772161;16120822;16407073;16407156;17156409;17178220;17462998;18202181;18511455;18669648;18678926;18724368;19006234;19144687;19170255;19383790;19542231;19574955;20068231;20186687;21206382;21282656;24138727;24715725;24892806;25892735;26992070;27532546;27600516;28027573;28228285;28832583;29393594;29557506;29769354;29786170;29880681;2991279;30315122;30429286;3049610;30524438;30779550;3104109;31844290;31848261;32157095;32304554;32387766;32938616;33298915;33525641;33592498;33912179;34171305;34405274;34561969;34816459;35051231;35129155;35421597;35563212;35580925;36284347;36316444;36662766;37217939;38039963;38247817;4065330;7503232;7510718;7526388;7535000;7538665;7678419;8063828;8140421;8621513;8683474;8855281;9227644;9369468;9374639;9374640;9756892;9829975", "class_list": "", "function": "A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy., [RefSeq, PubMed]; Bioinformatics reveal elevated levels of Myosin Vb in uterine corpus endometrial carcinoma patients which correlates to increased cell metabolism and poor prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; Coronavirus M Protein Trafficking in Epithelial Cells Utilizes a Myosin Vb Splice Variant and Rab10. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis. Required for proper localization of bile salt export pump ABCB11 at the apical/canalicular plasma membrane of hepatocytes (PubMed:34816459)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Myo5b Transports Fibronectin-Containing Vesicles and Facilitates FN1 Secretion from Human Pleural Mesothelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Myosin Vb as a tumor suppressor gene in intestinal cancer., [RefSeq, PubMed]; The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 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, "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": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0I1R3;Q0P656;Q9H6Y6", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0051015 actin filament binding;GO:0031267 small GTPase binding;GO:0000146 microfilament motor activity", "go_cellular_component": "GO:0045179 apical cortex;GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0006897 endocytosis;GO:0007015 actin filament organization;GO:0015031 protein transport;GO:0016197 endosomal transport", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q9ULV0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWZ6-1", "uniprot_id": [ { "id": "BBS7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWZ6", "type": "external" } ], "mass": 80353.0, "length": 715, "protein_name": "BBSome complex member BBS7", "gene_name": "BBS7", "organism": "Human", "refseq_name": "BBSome complex member BBS7 isoform b", "refseq_ac": [ { "id": "NP_060660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060660", "type": "external" } ], "gene_names_uniprotkb": "BBS7; BBS2L1", "gene_names_refseq": "BBS2L1; BBS7", "protein_names_uniprotkb": "BBSome complex member BBS7; BBS2-like protein 1; Bardet-Biedl syndrome 7 protein", "protein_names_refseq": "BBS2-like 1; BBSome complex member BBS7 isoform b; BBSome complex member BBS7; Bardet-Biedl syndrome 7 protein", "tax_id": 9606, "disease": "Bardet-Biedl syndrome 7 (Disease Ontology:DOID:0110129); Bardet-Biedl syndrome (Disease Ontology:DOID:1935)", "pathway": " (hsa:55212); (R-HSA-5620922)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "11237011;11252952;12567324;12677556;15258860;15314642;15770229;16327777;17574030;18000879;19081074;19421068;19575670;19664994;20058876;20080638;20233871;20603001;21258341;21344540;21427764;21552264;22072986;22139371;22389062;22500027;22645359;23351793;24296415;24366607;24715725;25443296;25446516;25880248;26992070;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29769354;29789417;30315122;30410026;30484775;30524438;31217245;31844290;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33633747;33729075;33912179;33968037;33981976;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36672825", "class_list": "", "function": "A novel Bardet-Biedl syndrome protein is identified anad characterized., [RefSeq, PubMed]; Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model., [RefSeq, PubMed]; Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. Publication Status: Online-Only, [RefSeq, PubMed]; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization., [UniProtKB, PubMed, PubMed]; This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]., [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": 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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4W5P8;Q8N581;Q9NVI4", "ec_number_list": [], "go_molecular_function": "GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0016020 membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0015031 protein transport;GO:0007601 visual perception;GO:0048546 digestive tract morphogenesis;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q8IWZ6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14194-1", "uniprot_id": [ { "id": "DPYL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14194", "type": "external" } ], "mass": 62184.0, "length": 572, "protein_name": "Dihydropyrimidinase-related protein 1", "gene_name": "CRMP1", "organism": "Human", "refseq_name": "dihydropyrimidinase-related protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001014809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014809", "type": "external" } ], "gene_names_uniprotkb": "CRMP1; DPYSL1; ULIP3", "gene_names_refseq": "CRMP-1; CRMP1; DPYSL1; DRP-1; DRP1; ULIP-3", "protein_names_uniprotkb": "Dihydropyrimidinase-related protein 1; CRMP-1; Collapsin response mediator protein 1; DRP-1; Inactive dihydropyrimidinase; ULIP-3; Unc-33-like phosphoprotein 3", "protein_names_refseq": "dihydropyrimidinase-like 1; dihydropyrimidinase-related protein 1 isoform 1; dihydropyrimidinase-related protein 1; inactive dihydropyrimidinase; unc-33-like phosphoprotein 3", "tax_id": 9606, "disease": "sarcoidosis (Disease Ontology:DOID:11335); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); renovascular hypertension (Disease Ontology:DOID:1591); congenital heart disease (Disease Ontology:DOID:1682); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310)", "pathway": " (hsa:1400); (R-HSA-399956)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10048489;11237011;11562390;12093729;12372285;12482610;12650609;14685275;15345747;15652488;15676027;16611631;17607942;17607944;18003833;18510355;18991276;19362386;19799413;19901323;25358863;26249678;27600516;27846572;27920218;28657654;28832583;29242379;29393594;29493099;29508533;29557506;29632711;29666369;29786170;29789417;30466368;31154438;31844290;32157095;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33936100;33968037;33981976;34171305;34405274;34509645;35051231;35561310;35580925;36010968;36241641;36511780;37938771;7637782;8973361;9375656", "class_list": "", "function": "CRMP-1 and CRMP-2 have a role in RhoA-dependent signaling, through interaction with and regulation of ROKalpha, [RefSeq, PubMed]; CRMP-1 might have implications for the pathogenesis of preeclampsia by regulating the biological behavior of trophoblast cells., [RefSeq, PubMed]; Collapsin response mediator protein-1: a novel invasion-suppressor gene. Review article, [RefSeq, PubMed]; Monoallelic CRMP1 gene variants cause neurodevelopmental disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton (PubMed:25358863). Plays a role in axon guidance (PubMed:25358863). During the axon guidance process, acts downstream of SEMA3A to promote FLNA dissociation from F-actin which results in the rearrangement of the actin cytoskeleton and the collapse of the growth cone (PubMed:25358863). Involved in invasive growth and cell migration (PubMed:11562390). May participate in cytokinesis (PubMed:19799413)., [UniProtKB, PubMed, PubMed, PubMed]; Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance. During the axon guidance process, acts downstream of SEMA3A to promote FLNA dissociation from F-actin which results in the rearrangement of the actin cytoskeleton and the collapse of the growth cone. Involved in invasive growth and cell migration. May participate in cytokinesis., [UniProtKB, UniProtKB]; Study provides a novel insight into the relevance of collapsin response mediator protein 1, a key molecule in semaphorin-3A signaling during neurodevelopment, in the molecular mechanism of action of lithium, and in the pathophysiology of bipolar disorder. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]., [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": 17, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0EJG6;Q13024;Q4W5F1;Q96TC8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0051219 phosphoprotein binding;GO:0031005 filamin binding;GO:0016812 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides;GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds", "go_cellular_component": "GO:0005813 centrosome;GO:0005819 spindle;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0030425 dendrite", "go_biological_process": "GO:0007399 nervous system development;GO:0071526 semaphorin-plexin signaling pathway;GO:0010977 negative regulation of neuron projection development;GO:0006139 nucleobase-containing compound metabolic process;GO:0150052 regulation of postsynapse assembly", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q14194-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00540-1", "uniprot_id": [ { "id": "MOS_HUMAN", "url": "https://www.uniprot.org/uniprot/P00540", "type": "external" } ], "mass": 37820.0, "length": 346, "protein_name": "Proto-oncogene serine/threonine-protein kinase mos", "gene_name": "MOS", "organism": "Human", "refseq_name": "proto-oncogene serine/threonine-protein kinase mos", "refseq_ac": [ { "id": "NP_005363", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005363", "type": "external" } ], "gene_names_uniprotkb": "MOS", "gene_names_refseq": "MOS; MSV; OZEMA20", "protein_names_uniprotkb": "Proto-oncogene serine/threonine-protein kinase mos; 2.7.11.1; Oocyte maturation factor mos; Proto-oncogene c-Mos", "protein_names_refseq": "c-mos; oncogene MOS, Moloney murine sarcoma virus; oocyte maturation factor mos; proto-oncogene c-Mos; proto-oncogene serine/threonine-protein kinase mos; v-mos Moloney murine sarcoma viral oncogene homolog", "tax_id": 9606, "disease": "oocyte/zygote/embryo maturation arrest 20 (MONDO:MONDO:0957278)", "pathway": " (hsa:4342)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10439036;17344846;20112406;29557506;34779126;34997960;35051231;35670744;36403623;37217939;6287464", "class_list": "", "function": "MOS is a serine/threonine kinase that activates the MAP kinase cascade through direct phosphorylation of the MAP kinase activator MEK (MAP2K1; MIM 176872) (Prasad et al., 2008 [PubMed 18246541]).[supplied by OMIM, Jul 2009]., [RefSeq]; MOS mutation causes female infertility with large polar body oocytes., [RefSeq, PubMed]; Serine/threonine kinase involved in the regulation of MAPK signaling. Is an activator of the ERK1/2 signaling cascade playing an essential role in the stimulation of oocyte maturation., [UniProtKB, PubMed, PubMed, 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "Q3KPG9;Q3KPH0", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "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:0004709 MAP kinase kinase kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0043410 positive regulation of MAPK cascade;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0000165 MAPK cascade;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P00540-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56279-1", "uniprot_id": [ { "id": "TCL1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P56279", "type": "external" } ], "mass": 13460.0, "length": 114, "protein_name": "T-cell leukemia/lymphoma protein 1A", "gene_name": "TCL1A", "organism": "Human", "refseq_name": "T-cell leukemia/lymphoma protein 1A", "refseq_ac": [ { "id": "NP_001092195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092195", "type": "external" } ], "gene_names_uniprotkb": "TCL1A; TCL1", "gene_names_refseq": "TCL1A; TCL1", "protein_names_uniprotkb": "T-cell leukemia/lymphoma protein 1A; Oncogene TCL-1; Oncogene TCL1; Protein p14 TCL1", "protein_names_refseq": "T cell leukemia/lymphoma 1A; T-cell leukemia/lymphoma protein 1A; T-cell lymphoma-1; oncogene TCL-1; oncogene TCL1; protein p14 TCL1", "tax_id": 9606, "disease": "T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603)", "pathway": " (hsa:8115)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "10716693;10983986;11237011;11707444;11839817;16934922;23481700;25505266;25892735;26375851;26992070;27846572;27920218;28063628;28228285;28467828;28832583;28834231;29242379;29393594;29508533;29557506;29632046;29632711;29786170;30315122;31844290;31998317;32265295;32350084;32357974;32983136;34206047;34357683;36317339;37023372;37046083;39198400;7809072;7987816;9519406", "class_list": "", "function": "Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis., [RefSeq, PubMed]; B-cell intrinsic RANK signaling cooperates with TCL1 to induce lineage-dependent B-cell transformation. Publication Status: Online-Only, [RefSeq, PubMed]; Enhances the phosphorylation and activation of AKT1, AKT2 and AKT3. Promotes nuclear translocation of AKT1. Enhances cell proliferation, stabilizes mitochondrial membrane potential and promotes cell survival., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Oncogenic role and target properties of the lysine-specific demethylase KDM1A in chronic lymphocytic leukemia., [RefSeq, PubMed]; Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010]., [RefSeq]; TCL1A acts as a tumour suppressor by modulating gastric cancer autophagy via miR-181a-5p-TCL1A-Akt/mTOR-c-MYC loop. Erratum:[Carcinogenesis. 2023 Aug 18;44(6):535. doi: 10.1093/carcin/bgad035. PMID: 37343144], [RefSeq, PubMed]; TCL1A, B Cell Regulation and Tolerance in Renal Transplantation. Review article 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, "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": 6, "reported_glycation": 0, "reported_snv": 4, "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": "Q6IBK7", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0043539 protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P56279-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16626-1", "uniprot_id": [ { "id": "MEA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16626", "type": "external" } ], "mass": 19905.0, "length": 185, "protein_name": "Male-enhanced antigen 1", "gene_name": "MEA1", "organism": "Human", "refseq_name": "male-enhanced antigen 1 isoform 1", "refseq_ac": [ { "id": "NP_055438", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055438", "type": "external" } ], "gene_names_uniprotkb": "MEA1; MEA", "gene_names_refseq": "HYS; MEA1; MEA", "protein_names_uniprotkb": "Male-enhanced antigen 1; MEA-1", "protein_names_refseq": "Male-enhanced antigen (H-Y structural gene); male-enhanced antigen 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4201)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;17322306;18669648;18691976;20068231;25502872;25576301;26992070;27862975;2813404;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29557506;30315122;30410026;30779550;31154438;31844290;32157095;32161166;32488085;32938616;32983136;33392160;33691108;33936100;33968037;34357683;34932366;35580925;36010968;39894887", "class_list": "", "function": "May play an important role in spermatogenesis and/or testis development., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 0, "reported_glycation": 0, "reported_snv": 0, "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": "Q5TC36;Q9BV01", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0008584 male gonad development", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q16626-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01081-1", "uniprot_id": [ { "id": "U2AF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01081", "type": "external" } ], "mass": 27872.0, "length": 240, "protein_name": "Splicing factor U2AF 35 kDa subunit", "gene_name": "U2AF1", "organism": "Human", "refseq_name": "splicing factor U2AF 35 kDa subunit isoform b", "refseq_ac": [ { "id": "NP_001020374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020374", "type": "external" } ], "gene_names_uniprotkb": "U2AF1; FP793; U2AF35; U2AFBP", "gene_names_refseq": "FP793; RNU2AF1; RN; U2AF1; U2AF35; U2AFBP", "protein_names_uniprotkb": "Splicing factor U2AF 35 kDa subunit; U2 auxiliary factor 35 kDa subunit; U2 small nuclear RNA auxiliary factor 1; U2 snRNP auxiliary factor small subunit", "protein_names_refseq": "U2 small nuclear RNA auxillary factor 1; U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunit; U2 snRNP auxiliary factor small subunit; U2(RNU2) small nuclear RNA auxiliary factor binding protein; splicing factor U2AF 35 kDa subunit isoform b; splicing factor U2AF 35kDa subunit", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908)", "pathway": " (hsa:102724594); (hsa:7307); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 227, "publication_id_list": "10228171;10323864;10489353;10668806;10669729;10882114;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11448987;11551507;11579093;11739738;11747608;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12477934;12871933;1388271;14519844;14625303;14654843;14713954;14749727;14762106;15037765;15084397;15096518;15498874;15565158;15998806;16314397;16314458;16809785;17000901;17081983;17095540;17128255;17190602;17332742;17525332;17606899;17984224;18288197;18322460;18364396;18411249;18423201;18593880;18957205;19103666;19165350;19217410;19536130;19836239;20058876;20068231;20129943;20423332;20573985;20695905;20844015;20980672;21295486;21406692;21536652;2176635;21872626;21911577;21947206;22110043;22121020;22158538;22207203;22365833;22645359;22813749;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23301498;23345524;23826332;23874216;24076191;24129315;24149845;24196718;24244187;24304693;24448447;24714562;24737827;24914973;25301780;25301781;25311244;25505266;25555158;25576301;2558966;25662211;25836925;25880248;26092250;26154972;26385511;26420826;26969736;26992070;27108190;27377154;27452731;27459055;27683217;27846572;27862975;27920218;28062851;28076346;28096519;28218747;28228285;28502770;28510447;28781166;28832583;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29437277;29493099;29508533;29632711;2963332;29902443;30139799;30257008;30315122;30315277;30379171;30410026;30429286;30599162;30705154;30728453;30765414;30779550;30975767;31222486;31409651;31530632;31848261;32157095;32179686;32329775;32494006;32816001;32938616;32983136;33141586;33177556;33214551;33243851;33446560;33691108;33968037;34019948;34301950;34365507;34561969;34725712;34822310;35051231;35177536;35215846;35251023;35385551;35580925;36010968;36284347;37217939;3757028;37612136;37735430;37975232;38088204;38417135;38665916;40473212;40914422;8566756;8608946;8647433;9016565;9242493;9512519;9524131;9539711;9618489;9659921;9660949;9671485;9701291;9731529", "class_list": "", "function": "Global analysis of binding sites of U2AF1 and ZRSR2 reveals RNA elements required for mutually exclusive splicing by the U2- and U12-type spliceosome., [RefSeq, PubMed]; Mutant U2AF1-Induced Mis-Splicing of mRNA Translation Genes Confers Resistance to Chemotherapy in Acute Myeloid Leukemia., [RefSeq, PubMed]; Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron., [UniProtKB, PubMed, PubMed, PubMed]; This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; U2AF1 in various neoplastic diseases and relevant targeted therapies for malignant cancers with complex mutations (Review). Review article, [RefSeq, PubMed]; U2AF1 pathogenic variants in myeloid neoplasms and precursor states: distribution of co-mutations and prognostic heterogeneity. 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, "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": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "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": "Q701P4;Q71RF1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0030628 pre-mRNA 3'-splice site binding;GO:0050733 RS domain binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex;GO:0015030 Cajal body;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 23.0, "record_id": "Q01081-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52292-1", "uniprot_id": [ { "id": "IMA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P52292", "type": "external" } ], "mass": 57862.0, "length": 529, "protein_name": "Importin subunit alpha-1", "gene_name": "KPNA2", "organism": "Human", "refseq_name": "importin subunit alpha-1", "refseq_ac": [ { "id": "NP_001307540", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307540", "type": "external" } ], "gene_names_uniprotkb": "KPNA2; RCH1; SRP1", "gene_names_refseq": "IPOA1; KPNA2; PTAC58; QIP2; RCH1; SRP1-alpha; SRP1alpha", "protein_names_uniprotkb": "Importin subunit alpha-1; Karyopherin subunit alpha-2; RAG cohort protein 1; SRP1-alpha", "protein_names_refseq": "RAG cohort protein 1; importin subunit alpha-1; importin subunit alpha-2; importin-alpha-P1; karyopherin alpha 2 (RAG cohort 1, importin alpha 1); nuclear pore-targeting complex 58kD component; pendulin", "tax_id": 9606, "disease": "", "pathway": " (hsa:3838); (R-HSA-111932); (R-HSA-1169408); (R-HSA-168276); (R-HSA-442729); (R-HSA-5693548); (R-HSA-9018519); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-9918432)", "pathway_count": 10, "publication_count": 423, "publication_id_list": "10.1101/2023.09.13.557529;10205180;10228156;10353244;10380706;10500157;10612665;10828826;10846107;10873660;10980193;11010967;11034064;11095724;11103799;11112487;11136970;11157743;11165043;11237011;11345900;11410592;11452016;11581164;11682626;11735022;11788588;11840567;11882654;12019269;12498683;12525615;12582176;12612073;12692549;12759408;12959972;14631847;14675539;15001666;15131269;15208624;15276198;15282324;15342649;15343269;15345050;15485925;15514030;15591024;15702989;15942031;15986123;16009131;16009940;16046058;16087863;16112642;16113099;16122702;16139798;16188882;1630819;16352599;16407192;16408927;16428300;16565220;16699525;16715065;16752129;16775314;16815975;16872604;16914094;16964243;16980581;17013392;17035307;17081983;17270291;17277772;17289916;17376915;17412287;17463000;17495528;17510434;17596301;17637753;17666587;17690249;17697703;17761676;17924679;18187655;18219272;18220336;18256232;18287095;18305167;18322535;18358809;18452278;18476782;18491316;18533032;18583345;18669648;18691976;18762174;18767875;18805503;19001364;19007248;19020303;19073728;19098913;19125153;19270716;19274700;19295514;19321454;19380580;19383337;19386897;19398035;19413330;19415658;19651622;19664994;19664995;19690332;19691289;19718048;20058876;20068231;20133869;20147401;20219937;20219941;20220130;20308324;20385878;20498280;20570965;20682797;21106759;21151129;21209280;21385873;21406692;21445275;21454664;21573489;21690087;21699900;2181374;21835891;21878914;21934649;21940756;22046132;22056668;22121020;22253733;22265404;22312431;22424782;22492511;22544926;22545144;22704330;22941947;23145106;23172872;23186163;23192763;23301498;23303788;23403292;23435229;23483519;23723241;23906331;24167369;24366607;24371278;24509444;24622840;24714562;24715725;24735615;24854014;24854081;24885040;24973012;24998469;25135833;25296600;25365482;25418920;25433557;25469497;25505266;25542856;25576301;25633194;25645385;25663755;25674852;25728767;25764917;25810538;25907116;26024233;26056233;26153859;26154972;26204489;26208004;26320399;26378163;26462610;26479350;26811146;26929215;26992070;27062924;27164085;27203180;27383988;27600516;27846572;27886276;27920218;28063628;28148787;28218747;28228285;28228593;28510447;28514659;28539435;28832583;28834231;28904123;28991411;29042515;2919170;29242379;29294448;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29789417;29930882;30185776;30192525;30315122;30355688;30410026;30429286;3045126;30524438;30779550;30848123;31034780;31092671;31217245;31231549;31530632;31844290;31848261;31850239;31937595;31998317;32119511;32130408;32157095;32161166;32265295;32350084;32353859;32357974;32387766;32428392;32488085;32502341;32589897;32726803;32728199;3281094;32897882;32938616;32953130;32979938;32983136;33024073;33043033;33060197;33097660;33110251;33141586;33214551;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33537174;33567255;33592498;33633747;33691108;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33981976;33989516;33990585;34019948;34021074;34054808;34084167;34087483;34110168;34166398;34171305;34211107;34239064;34290717;34341353;34357683;34375313;34400613;34405274;34439781;34452305;34471099;34502139;34509645;34597346;34725712;34932366;3498214;35051231;35083852;35102342;35138101;35215835;35251023;35318648;35446349;35561310;35580925;35643212;36010968;36215666;36241641;36284347;36580660;36581221;3677090;37051252;37217939;37938771;38253038;38665916;38793607;40596516;40914422;7559393;7559524;7604027;7754385;7935485;7937828;8016130;8195246;8197458;8313914;8419924;8617227;8702940;8756642;8876171;9020106;9177214;9201922;9323134;9338790;9388265;9463369;9525617;9611253;9651580;9651582;9671459;9705271;9731700;9786944;9989503", "class_list": "", "function": "Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1 (PubMed:28991411, PubMed:32130408, PubMed:7604027, PubMed:7754385). Binds specifically and directly to substrates containing either a simple or bipartite NLS motif (PubMed:28991411, PubMed:32130408, PubMed:7604027, PubMed:7754385). Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism (PubMed:7604027, PubMed:7754385). At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediator of PR-DUB complex component BAP1 nuclear import; acts redundantly with KPNA1 and Transportin-1/TNPO1 (PubMed:35446349)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediator of PR-DUB complex component BAP1 nuclear import; acts redundantly with KPNA1 and Transportin-1/TNPO1., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]; This review focuses on recent experimental evidences demonstrating how NBS1 is translocated into the nucleus by an importin KPNA2 which mediates NBS1 subcellular localization and the functions of the NBS1 complex in tumorigenesis. Review article, [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": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B9EJD6;Q53YE3;Q6NVW7;Q9BRU5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042826 histone deacetylase binding;GO:0008139 nuclear localization sequence binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000018 regulation of DNA recombination;GO:0006259 DNA metabolic process;GO:0032481 positive regulation of type I interferon production;GO:1903902 positive regulation of viral life cycle;GO:0006607 NLS-bearing protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 43.2, "record_id": "P52292-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00747-1", "uniprot_id": [ { "id": "PLMN_HUMAN", "url": "https://www.uniprot.org/uniprot/P00747", "type": "external" } ], "mass": 90569.0, "length": 810, "protein_name": "Plasminogen", "gene_name": "PLG", "organism": "Human", "refseq_name": "plasminogen isoform 1 precursor", "refseq_ac": [ { "id": "NP_000292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000292", "type": "external" } ], "gene_names_uniprotkb": "PLG", "gene_names_refseq": "HAE4; PLG", "protein_names_uniprotkb": "Plasminogen", "protein_names_refseq": "plasminogen isoform 1 precursor; plasmin", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); plasminogen deficiency type I (Disease Ontology:DOID:0111592); osteonecrosis (Disease Ontology:DOID:10159); hereditary angioedema (Disease Ontology:DOID:14735); thrombophilia (Disease Ontology:DOID:2452); Noonan syndrome (Disease Ontology:DOID:3490); conjunctivitis (Disease Ontology:DOID:6195); angioedema, hereditary, 4 (MONDO:MONDO:0025712)", "pathway": " (hsa:5340); (R-HSA-114608); (R-HSA-1474228); (R-HSA-1592389); (R-HSA-186797); (R-HSA-381426); (R-HSA-75205)", "pathway_count": 7, "publication_count": 327, "publication_id_list": "10.1021/acs.analchem.6b02887;10026136;10077593;10077652;10218588;10229672;10233898;10386589;10508235;10512690;10614670;10656799;10681634;10706100;10809722;10810289;10889192;10898936;10912521;10951195;10986281;10990447;11158056;11237011;11250653;11264294;11316783;11350170;11375993;11522292;11606061;11739083;11751371;11788658;11830519;11872628;12007600;12054798;12241545;122932;12369853;12379487;12456874;12466191;12538485;126863;12727852;12810533;12843408;12904166;1311092;1311314;134998;1370451;1371271;1383255;1390635;142009;1427790;1435334;14630798;14699093;1480033;14973287;15016824;15126567;15207811;15211511;15234972;15297306;15299951;15308688;15469690;15485880;15525596;15591058;15613921;15615512;15642270;15767546;15958533;16043488;16133547;16331269;1639841;16436588;16474853;1649600;1657148;1657149;16631740;16825321;1698775;17047378;1707285;17249697;17312271;17332331;17354228;17367763;17604334;17608959;17666018;1783204;17943726;17985932;1829461;18434311;1846368;18559524;18658137;18780401;1899031;19010778;19564526;19571574;19657146;19712047;19714641;1986355;20142769;2059624;2065054;20813817;21030783;21081667;21251937;21297635;21376233;2143188;21441952;2156852;2157850;2159879;2166055;21670566;2169257;2176865;21784848;21864727;21949403;22159414;22433849;22540246;22645135;2269296;22933705;23035980;23090970;2318848;23193360;23204165;23335990;23483454;23583652;23640497;2383557;23845380;2386787;24275569;2440681;24449821;24715725;2476804;2479552;24900876;2496749;2503541;2521625;25328409;2544876;2546891;2551898;2557753;25597754;26091039;26598643;27387503;27452731;27862975;27935848;28035807;28435517;28514659;28795768;28849762;29093181;29137923;29242379;29263244;2935528;29391424;29408302;29508533;29548426;29557506;2962641;29632711;29671580;29741879;29952006;29964125;29987869;3011081;3023326;3030813;30389923;30429286;30459171;3058116;3090045;31085175;31154438;31217245;31726374;31844290;32157095;32983136;33043033;33114181;3356193;33799813;34502392;34800067;35051231;35154160;35459695;35580925;36756125;37495082;37712947;37971174;37979915;38101751;38665916;4216367;4240117;4270330;4694729;479158;6094526;6148961;6216475;6238949;6263256;6433976;6447255;6448849;6457647;6919539;7075587;7199524;7519608;7523391;7525077;7525263;7525634;7525824;7527330;7538844;7543116;7547873;7588299;7669817;7679575;7683646;7689487;7706303;7746327;7780967;7826345;7890645;7896811;7981201;8015608;8054447;8181475;8181476;8194591;8226919;8314771;8392398;8467233;8530478;8576151;8611560;8621565;8626565;8645182;8652577;8663255;8781553;8804434;8817670;8894645;8900172;8964575;9054441;9065415;9102221;9102401;9115292;9148753;9171346;9201958;9242524;9261109;9305949;9334164;9346290;9414276;9422744;9461298;9497324;9521645;9548733;9578462;9632662;9709957;9733769;9739761;9783753;9786878;9852107;9858247;9886297;9922210", "class_list": "", "function": "(Microbial infection) Binds to OspC on the surface of B.burgdorferi cells, possibly conferring an extracellular protease activity on the bacteria that allows it to traverse host tissue., [UniProtKB, PubMed]; (Microbial infection) Interacts with dengue virus type 2 particles (PubMed:31726374). Enhances dengue virus type 2 infection in Aedes aegypti mosquito midgut by increasing midgut internalization, resulting in higher infection rates and viral dissemination in mosquitoes (PubMed:31726374)., [UniProtKB, PubMed]; A dual role for ERK-1/2 in the regulation of plasmin activity and cell migration in metastatic NSCLC-H1299 cells., [RefSeq, PubMed]; Crosstalk between the plasminogen/plasmin system and inflammation resolution. Review article, [RefSeq, PubMed]; Has an antiangiogenic activity and inhibits neovascularization (PubMed:10077593, PubMed:7525077, PubMed:9102221). Could act through the inhibition of the ATP synthase subunit ATP5F1A (PubMed:10077593)., [UniProtKB, PubMed, PubMed, PubMed]; Identification and characterization of calreticulin as a novel plasminogen receptor., [RefSeq, PubMed]; Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ovulation, weakens the walls of the Graafian follicle. It activates the urokinase-type plasminogen activator, collagenases and several complement zymogens, such as C1, C4 and C5. Cleavage of fibronectin and laminin leads to cell detachment and apoptosis. Also cleaves fibrin, thrombospondin and von Willebrand factor. Its role in tissue remodeling and tumor invasion may be modulated by CSPG4. Binds to cells., [UniProtKB, UniProtKB]; Plasminogen deficiency suppresses pancreatic ductal adenocarcinoma disease progression., [RefSeq, PubMed]; Protease which primary function is to degrade fibrin, the main component of blood clots (PubMed:6094526, PubMed:6919539). Also cleaves other components of blood clots like thrombospondin-1/THBS1 and von Willebrand factor/VWF (PubMed:24449821, PubMed:7679575). Can also directly and/or through the activation of other proteases degrade the various components of the extracellular matrix including collagen, fibronectin and laminin (PubMed:14699093, PubMed:28849762, PubMed:9171346). Thereby, regulates a variety of biological processes including embryonic development, tissue remodeling, and inflammation (PubMed:9171346). In ovulation, weakens the walls of the Graafian follicle (By similarity). In vitro, it is also able to cleave several complement zymogens, such as C1, C4 and C5 (PubMed:6447255)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Proteoform-Resolved Profiling of Plasminogen Activation Reveals Novel Abundant Phosphorylation Site and Primary N-Terminal Cleavage Site., [RefSeq, PubMed]; The plasminogen protein encoded by this gene is a serine protease that circulates in blood plasma as an inactive zymogen and is converted to the active protease, plasmin, by several plasminogen activators such as tissue plasminogen activator (tPA), urokinase plasminogen activator (uPA), kallikrein, and factor XII (Hageman factor). The conversion of plasminogen to plasmin involves the cleavage of the peptide bond between Arg-561 and Val-562. Plasmin cleavage also releases the angiostatin protein which inhibits angiogenesis. Plasmin degrades many blood plasma proteins, including fibrin-containing blood clots. As a serine protease, plasmin cleaves many products in addition to fibrin such as fibronectin, thrombospondin, laminin, and von Willebrand factor. Plasmin is inactivated by proteins such as alpha-2-macroglobulin and alpha-2-antiplasmin in addition to inhibitors of the various plasminogen activators. Plasminogen also interacts with plasminogen receptors which results in the retention of plasmin on cell surfaces and in plasmin-induced cell signaling. The localization of plasminogen on cell surfaces plays a role in the degradation of extracellular matrices, cell migration, inflamation, wound healing, oncogenesis, metastasis, myogenesis, muscle regeneration, neurite outgrowth, and fibrinolysis. This protein may also play a role in acute respiratory distress syndrome (ARDS) which, in part, is caused by enhanced clot formation and the suppression of fibrinolysis. Compared to other mammals, the cluster of plasminogen-like genes to which this gene belongs has been rearranged in catarrhine primates. [provided by RefSeq, May 2020]., [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": 1, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 17, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 57, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 66, "disease_count": 8, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "Q15146;Q5TEH4;Q6PA00", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0005102 signaling receptor binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0051702 biological process involved in interaction with symbiont;GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0007596 blood coagulation;GO:0042730 fibrinolysis", "synthesized_glycan_count": 0, "hit_score": 41.3, "record_id": "P00747-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63000-1", "uniprot_id": [ { "id": "RAC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P63000", "type": "external" } ], "mass": 21450.0, "length": 192, "protein_name": "Ras-related C3 botulinum toxin substrate 1", "gene_name": "RAC1", "organism": "Human", "refseq_name": "ras-related C3 botulinum toxin substrate 1 isoform Rac1", "refseq_ac": [ { "id": "NP_008839", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008839", "type": "external" } ], "gene_names_uniprotkb": "RAC1; MIG5; TC25", "gene_names_refseq": "MIG5; MRD48; RAC1; Rac-1; TC-25; p21-Rac1", "protein_names_uniprotkb": "Ras-related C3 botulinum toxin substrate 1; 3.6.5.2; Cell migration-inducing gene 5 protein; Ras-like protein TC25; p21-Rac1", "protein_names_refseq": "cell migration-inducing gene 5 protein; ras-like protein TC25; ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1); ras-related C3 botulinum toxin substrate 1 isoform Rac1", "tax_id": 9606, "disease": "colon adenoma (Disease Ontology:DOID:0050912); colorectal carcinoma (Disease Ontology:DOID:0080199); autosomal dominant intellectual developmental disorder 48 (Disease Ontology:DOID:0080235); stomach cancer (Disease Ontology:DOID:10534); lung cancer (Disease Ontology:DOID:1324); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); colon adenocarcinoma (Disease Ontology:DOID:234); extrahepatic bile duct adenocarcinoma (Disease Ontology:DOID:3495); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); gastric adenocarcinoma (Disease Ontology:DOID:3717); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); gallbladder carcinoma (Disease Ontology:DOID:4948); kidney disease (Disease Ontology:DOID:557); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:5879); (R-HSA-114604); (R-HSA-1257604); (R-HSA-1433557); (R-HSA-1445148); (R-HSA-164944); (R-HSA-193648); (R-HSA-2029482); (R-HSA-2219530); (R-HSA-2424491); (R-HSA-2871796); (R-HSA-389359); (R-HSA-3928662); (R-HSA-3928664); (R-HSA-3928665); (R-HSA-399954); (R-HSA-399955); (R-HSA-4086400); (R-HSA-416550); (R-HSA-418885); (R-HSA-428540); (R-HSA-428543); (R-HSA-4420097); (R-HSA-445144); (R-HSA-5218920); (R-HSA-5625740); (R-HSA-5625900); (R-HSA-5625970); (R-HSA-5626467); (R-HSA-5627123); (R-HSA-5663213); (R-HSA-5663220); (R-HSA-5668599); (R-HSA-5687128); (R-HSA-6798695); (R-HSA-6811558); (R-HSA-8849471); (R-HSA-8875555); (R-HSA-9013149); (R-HSA-9032759); (R-HSA-9032845); (R-HSA-9619229); (R-HSA-9664422); (R-HSA-9673324); (R-HSA-9748787); (R-HSA-983231); (R-HSA-9958810); (R-HSA-9958825)", "pathway_count": 48, "publication_count": 1049, "publication_id_list": 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"class_list": "", "function": "Isoform B has an accelerated GEF-independent GDP/GTP exchange and an impaired GTP hydrolysis, which is restored partially by GTPase-activating proteins (PubMed:14625275). It is able to bind to the GTPase-binding domain of PAK but not full-length PAK in a GTP-dependent manner, suggesting that the insertion does not completely abolish effector interaction (PubMed:14625275)., [UniProtKB, PubMed]; Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarization, neurons adhesion, migration and differentiation, and growth-factor induced formation of membrane ruffles (PubMed:1643658, PubMed:22843693, PubMed:23512198, PubMed:28886345). Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity in macrophages. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. Stimulates PKN2 kinase activity (PubMed:9121475). In concert with RAB7A, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts (PubMed:1643658). In podocytes, promotes nuclear shuttling of NR3C2; this modulation is required for a proper kidney functioning. Required for atypical chemokine receptor ACKR2-induced LIMK1-PAK1-dependent phosphorylation of cofilin (CFL1) and for up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. In neurons, is involved in dendritic spine formation and synaptic plasticity (By similarity). In hippocampal neurons, involved in spine morphogenesis and synapse formation, through local activation at synapses by guanine nucleotide exchange factors (GEFs), such as ARHGEF6/ARHGEF7/PIX (PubMed:12695502). In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3. In neurons, plays a crucial role in regulating GABA(A) receptor synaptic stability and hence GABAergic inhibitory synaptic transmission through its role in PAK1 activation and eventually F-actin stabilization (By similarity). Required for DSG3 translocation to cell-cell junctions, DSG3-mediated organization of cortical F-actin bundles and anchoring of actin at cell junctions; via interaction with DSG3 (PubMed:22796473). Subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (PubMed:38355798)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; RAC1 serves as a prognostic factor and correlated with immune infiltration in liver hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; RAC1-mediated integrin alpha-6 expression in E-cadherin-deficient gastric cancer cells promotes interactions with the stroma and peritoneal dissemination., [RefSeq, PubMed]; The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]., [RefSeq]; WNT5B promotes the malignant phenotype of non-small cell lung cancer via the FZD3-DVL3-RAC1-PCP-JNK pathway., [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": 2, "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": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 18, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O95501;P15154;Q3Y4D3;Q5JAA8;Q9BTB4", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.4.19.12", "url": 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"https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.4.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.2", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.4.16.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.2", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "5.6.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.3", "type": "external" }, { "id": "1.3.1.70", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.70", "type": "external" }, { "id": "7.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.2", "type": "external" }, { "id": "7.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.3", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "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:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019899 enzyme binding;GO:0019901 protein kinase binding;GO:0031996 thioesterase binding", "go_cellular_component": "GO:0043020 NADPH oxidase complex;GO:0098978 glutamatergic synapse;GO:0001891 phagocytic cup;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0010764 negative regulation of fibroblast migration;GO:2000386 positive regulation of ovarian follicle development;GO:0046425 regulation of receptor signaling pathway via JAK-STAT;GO:0003376 sphingosine-1-phosphate receptor signaling pathway;GO:0001934 positive regulation of protein phosphorylation", "synthesized_glycan_count": 0, "hit_score": 105.4, "record_id": "P63000-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01130-1", "uniprot_id": [ { "id": "LDLR_HUMAN", "url": "https://www.uniprot.org/uniprot/P01130", "type": "external" } ], "mass": 95376.0, "length": 860, "protein_name": "Low-density lipoprotein receptor", "gene_name": "LDLR", "organism": "Human", "refseq_name": "low-density lipoprotein receptor isoform 1 precursor", "refseq_ac": [ { "id": "NP_000518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000518", "type": "external" } ], "gene_names_uniprotkb": "LDLR", "gene_names_refseq": "LDLCQ2; LDLR", "protein_names_uniprotkb": "Low-density lipoprotein receptor; LDL receptor", "protein_names_refseq": "LDL receptor; low-density lipoprotein receptor class A domain-containing protein 3; low-density lipoprotein receptor isoform 1 precursor", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); aortic atherosclerosis (Disease Ontology:DOID:10230); Alzheimer's disease (Disease Ontology:DOID:10652); familial hyperlipidemia (Disease Ontology:DOID:1168); migraine without aura (Disease Ontology:DOID:12783); familial hypercholesterolemia (Disease Ontology:DOID:13810); hepatitis C (Disease Ontology:DOID:1883); atherosclerosis (Disease Ontology:DOID:1936); arteriosclerosis (Disease Ontology:DOID:2349); xanthomatosis (Disease Ontology:DOID:3345); coronary artery disease (Disease Ontology:DOID:3393); systemic lupus erythematosus (Disease Ontology:DOID:9074); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:3949); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8964026); (R-HSA-8964038); (R-HSA-975634)", "pathway_count": 6, "publication_count": 426, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Acts as a receptor for Crimean-Congo hemorrhagic fever virus (CCHFV)., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for Vesicular stomatitis virus., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as a receptor for many Alphavirus, including Getah virus (GETV), Ross river virus (RRV) and Semliki Forest virus., [UniProtKB, PubMed]; (Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells., [UniProtKB, PubMed]; Association between Apo B, LDL-R and PCSK9 gene polymorphisms with coronary artery diseases in Egyptians. Publication Status: Online-Only, [RefSeq, PubMed]; Binds low density lipoprotein /LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Forms a ternary complex with PGRMC1 and TMEM97 receptors which increases LDLR-mediated LDL internalization (PubMed:30443021)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; LDLR c.89_92dup: a novel frameshift variation in familial hypercholesterolemia. Publication Status: Online-Only, [RefSeq, PubMed]; Methylation status of LDLR, PCSK9 and LDLRAP1 is associated with cardiovascular events in familial hypercholesterolemia., [RefSeq, PubMed]; The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022]., [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 21, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 21, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 21, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 6, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 123, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 28, "disease_count": 14, "glyco_site_count": 27, "binding_glycan_count": 0, "secondary_ac_list": "B4DII3;B4DJZ8;B4DR00;B4DTQ3;C0JYY8;H0YLU8;H0YNT7;Q53ZD9;Q59FQ1;Q9UDH7", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0002020 protease binding;GO:0042802 identical protein binding;GO:0001540 amyloid-beta binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0009986 cell surface", "go_biological_process": "GO:1903979 negative regulation of microglial cell activation;GO:1905167 positive regulation of lysosomal protein catabolic process;GO:0001523 retinoid metabolic process;GO:0006629 lipid metabolic process;GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 48.2, "record_id": "P01130-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZV8-1", "uniprot_id": [ { "id": "PRD14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZV8", "type": "external" } ], "mass": 64062.0, "length": 571, "protein_name": "PR domain zinc finger protein 14", "gene_name": "PRDM14", "organism": "Human", "refseq_name": "PR domain zinc finger protein 14", "refseq_ac": [ { "id": "NP_078780", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078780", "type": "external" } ], "gene_names_uniprotkb": "PRDM14", "gene_names_refseq": "PFM11; PRDM14", "protein_names_uniprotkb": "PR domain zinc finger protein 14; 2.1.1.-; PR domain-containing protein 14", "protein_names_refseq": "PR domain 14; PR domain zinc finger protein 14; PR domain-containing 14; PR domain-containing protein 14", "tax_id": 9606, "disease": "lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:63978); (R-HSA-452723)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "11237011;12787505;14688391;15108323;15277698;15342930;15493035;15513931;15582778;15625129;15695770;15743839;15860457;15983365;15988017;16153702;16978057;17068183;17204602;17267691;17506876;17567999;17572666;17628018;17942894;18029452;18035408;18194669;18212089;18824471;19151334;19489980;19522013;19604364;19664994;19664995;19688839;19755485;19829295;19966271;20027182;20505756;20505821;20837710;20840815;20953172;21406692;21630377;21924763;22210884;22215994;22327294;22988117;23178592;23827706;23827708;27281218;32387766;33629299;34990589;38840106;9000051", "class_list": "", "function": "Integrated analysis of the role of PR/SET domain 14 in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA DNAJC3-AS1 functions as oncogene in renal cell carcinoma via regulation of the miR-27a-3p/PRDM14 axis., [RefSeq, PubMed]; PRDM14 mRNA is overexpressed in about two thirds of breast cancers; moreover, immunohistochemical analysis showed that expression of PRDM14 protein is also up-regulated., [RefSeq, PubMed]; The high expression of PRDM14 in non-small cell lung cancer is associated with differentiation and histological type., [RefSeq, PubMed]; These results suggest that PRDM14 is involved in the maintenance of the self-renewal of human ES cells by suppression of gene expression., [RefSeq, PubMed]; This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer. [provided by RefSeq, Dec 2011]., [RefSeq]; Transcription factor that has both positive and negative roles on transcription. Required for the maintenance of embryonic stem cell identity and the reacquisition of pluripotency in somatic cells. May play an essential role in germ cell development at 2 levels: the reacquisition of potential pluripotency, including SOX2 up-regulation, and successful epigenetic reprogramming, characterized by EHMT1 repression. Its association with CBFA2T2 is required for the functions in pluripotency and germ cell formation (By similarity). Directly up-regulates the expression of pluripotency gene POU5F1 through its proximal enhancer. Binds to the DNA consensus sequence 5'-GGTC[TC]CTAA-3'., [UniProtKB, PubMed, UniProtKB, PubMed]; YAP1 and PRDM14 converge to promote cell survival and tumorigenesis., [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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "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": "Q86UX9", "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:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0008168 methyltransferase activity;GO:0031490 chromatin DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0032259 methylation;GO:1902093 positive regulation of flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9GZV8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54296-1", "uniprot_id": [ { "id": "MYOM2_HUMAN", "url": "https://www.uniprot.org/uniprot/P54296", "type": "external" } ], "mass": 164869.0, "length": 1465, "protein_name": "Myomesin-2", "gene_name": "MYOM2", "organism": "Human", "refseq_name": "myomesin-2", "refseq_ac": [ { "id": "NP_003961", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003961", "type": "external" } ], "gene_names_uniprotkb": "MYOM2", "gene_names_refseq": "MYOM2; TTNAP", "protein_names_uniprotkb": "Myomesin-2; 165 kDa connectin-associated protein; 165 kDa titin-associated protein; M-protein; Myomesin family member 2", "protein_names_refseq": "165 kDa connectin-associated protein; 165 kDa titin-associated protein; M-band protein; M-protein; myomesin (M-protein) 2, 165kDa; myomesin family member 2; myomesin-2; titin-associated protein, 165 kD", "tax_id": 9606, "disease": "", "pathway": " (hsa:9172)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12972258;23792176;25418920;31154438;31492838;31848261;33033063;7505783;9529381", "class_list": "", "function": "A direct interaction of dysferlin with Trim72/MG53, AHNAK, cytoplasmic dynein, myomesin-2 and calsequestrin-1, but not with caveolin-3 or dystrophin, is reported., [RefSeq, PubMed]; Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart. Publication Status: Online-Only, [RefSeq, PubMed]; Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Results identify muscle-type creatine kinase as a binding partner of a central portion of myomesin and the closely related M-protein., [RefSeq, PubMed]; The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 78, "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": "Q7Z3Y2", "ec_number_list": [], "go_molecular_function": "GO:0019900 kinase binding;GO:0008307 structural constituent of muscle", "go_cellular_component": "GO:0005739 mitochondrion;GO:0032982 myosin filament;GO:0031430 M band", "go_biological_process": "GO:0006936 muscle contraction;GO:0045214 sarcomere organization", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P54296-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21917-1", "uniprot_id": [ { "id": "DRD4_HUMAN", "url": "https://www.uniprot.org/uniprot/P21917", "type": "external" } ], "mass": 43901.0, "length": 419, "protein_name": "D(4) dopamine receptor", "gene_name": "DRD4", "organism": "Human", "refseq_name": "D(4) dopamine receptor", "refseq_ac": [ { "id": "NP_000788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000788", "type": "external" } ], "gene_names_uniprotkb": "DRD4", "gene_names_refseq": "D4DR; DRD4", "protein_names_uniprotkb": "D(4) dopamine receptor; D(2C) dopamine receptor; Dopamine D4 receptor", "protein_names_refseq": "D(2C) dopamine receptor; D(4) dopamine receptor; dopamine D4 receptor; seven transmembrane helix receptor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); pervasive developmental disorder (Disease Ontology:DOID:0060040); intellectual disability (Disease Ontology:DOID:1059); Alzheimer's disease (Disease Ontology:DOID:10652); antisocial personality disorder (Disease Ontology:DOID:10939); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); Gilles de la Tourette syndrome (Disease Ontology:DOID:11119); opioid abuse (Disease Ontology:DOID:11206); pathological gambling (Disease Ontology:DOID:12399); conduct disorder (Disease Ontology:DOID:12995); alcohol use disorder (Disease Ontology:DOID:1574); substance abuse (Disease Ontology:DOID:302); dyslexia (Disease Ontology:DOID:4428); liver cirrhosis (Disease Ontology:DOID:5082); schizophrenia (Disease Ontology:DOID:5419); cannabis abuse (Disease Ontology:DOID:9505); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1815); (R-HSA-390651); (R-HSA-418594)", "pathway_count": 3, "publication_count": 48, "publication_id_list": "10739409;11007482;12120503;12142540;1319557;1358063;14060771;15951850;16423344;16634148;16923326;1826762;18303015;1840645;18434541;18577758;20100572;20836733;21184734;2129115;2144334;2532362;2534964;25645385;2748346;27659709;2834384;28514659;29051383;31092671;31154438;34105348;35051231;37080173;37880658;37988928;38361407;39894887;7512953;7643093;7726213;7769992;7937899;8015379;8078498;8353495;8406495;9003072", "class_list": "", "function": "Association of DRD2, DRD4 and COMT genes variants and their gene-gene interactions with antipsychotic treatment response in patients with schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]; DRD4 VNTR 4/4 homozygosity as a genetic biomarker for treatment selection in patients with schizophrenia., [RefSeq, PubMed]; Dopamine receptor responsible for neuronal signaling in the mesolimbic system of the brain, an area of the brain that regulates emotion and complex behavior. Activated by dopamine, but also by epinephrine and norepinephrine, and by numerous synthetic agonists and drugs (PubMed:16423344, PubMed:27659709, PubMed:29051383, PubMed:9003072). Agonist binding triggers signaling via G proteins that inhibit adenylyl cyclase (PubMed:16423344, PubMed:27659709, PubMed:29051383, PubMed:7512953, PubMed:7643093). Modulates the circadian rhythm of contrast sensitivity by regulating the rhythmic expression of NPAS2 in the retinal ganglion cells (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Humanized dopamine D4.7 receptor male mice display risk-taking behavior and deficits of social recognition and working memory in light/dark-dependent manner. Review article, [RefSeq, PubMed]; This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]., [RefSeq]; Variation in the Dopamine-4-Receptor Gene in Patients with Type 1 Diabetes., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 19, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B0M0J7;Q7Z7Q5;Q8NGM5", "ec_number_list": [], "go_molecular_function": "GO:0004952 dopamine neurotransmitter receptor activity;GO:0001591 dopamine neurotransmitter receptor activity, coupled via Gi/Go;GO:0017124 SH3 domain binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite;GO:0098794 postsynapse", "go_biological_process": "GO:0034776 response to histamine;GO:0050709 negative regulation of protein secretion;GO:0051586 positive regulation of dopamine uptake involved in synaptic transmission;GO:0060158 phospholipase C-activating dopamine receptor signaling pathway;GO:0008344 adult locomotory behavior", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "P21917-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62807-1", "uniprot_id": [ { "id": "H2B1C_HUMAN", "url": "https://www.uniprot.org/uniprot/P62807", "type": "external" } ], "mass": 13906.0, "length": 126, "protein_name": "Histone H2B type 1-C/E/F/G/I", "gene_name": "H2BC10; H2BC4; H2BC6; H2BC7; H2BC8", "organism": "Human", "refseq_name": "histone H2B type 1-C/E/F/G/I", "refseq_ac": [ { "id": "NP_003509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003509", "type": "external" } ], "gene_names_uniprotkb": "H2BC10; H2BC4; H2BC6; H2BC7; H2BC8; H2BFA; H2BFG; H2BFH; H2BFK; H2BFL; HIST1H2BC; HIST1H2BE; HIST1H2BF; HIST1H2BG; HIST1H2BI", "gene_names_refseq": "H2B.1A; H2B/a; H2BC10; H2BC4; H2BC6; H2BC7; H2BC8; H2BFA; HIST1H2BG; dJ221C16.8", "protein_names_uniprotkb": "Histone H2B type 1-C/E/F/G/I; H2B/a; H2B/g; H2B/h; H2B/k; H2B/l; Histone H2B.1 A; Histone H2B.a; Histone H2B.g; Histone H2B.h; Histone H2B.k; Histone H2B.l", "protein_names_refseq": "H2B histone family, member A; histone 1, H2bg; histone H2B type 1-C/E/F/G/I; histone H2B.1 A; histone H2B.a; histone cluster 1 H2B family member g; histone cluster 1, H2bg", "tax_id": 9606, "disease": "", "pathway": " (hsa:3017); (hsa:8339); (hsa:8343); (hsa:8344); (hsa:8346); (hsa:8347); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-1912408); (R-HSA-201722); (R-HSA-212300); (R-HSA-2299718); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559586); (R-HSA-3214815); (R-HSA-3214847); (R-HSA-427359); (R-HSA-427389); (R-HSA-427413); (R-HSA-5250924); (R-HSA-5334118); (R-HSA-5578749); (R-HSA-5617472); (R-HSA-5625886); (R-HSA-5689880); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-606279); (R-HSA-68616); (R-HSA-69473); (R-HSA-73728); (R-HSA-73772); (R-HSA-8866654); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-9018519); (R-HSA-912446); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9616222); (R-HSA-9670095); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-977225); (R-HSA-9821002); (R-HSA-9821993); (R-HSA-9841922); (R-HSA-9843940); (R-HSA-9843970); (R-HSA-9845323); (R-HSA-9909649); (R-HSA-9918481); (R-HSA-9937850); (R-HSA-9940465); (R-HSA-9940951); (R-HSA-9943411); (R-HSA-9943962); (R-HSA-9970672)", "pathway_count": 64, "publication_count": 1296, "publication_id_list": 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"class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]; Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid., [UniProtKB]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. The protein has antibacterial and antifungal antimicrobial activity. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]., [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": 1, "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": 1, "reported_glycation": 0, "reported_snv": 41, "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": "P02278;Q3B872;Q4VB69;Q93078;Q93080", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0000786 nucleosome", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0050830 defense response to Gram-positive bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0006325 chromatin organization;GO:0006334 nucleosome assembly", "synthesized_glycan_count": 0, "hit_score": 129.9, "record_id": "P62807-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T700-1", "uniprot_id": [ { "id": "LRAD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T700", "type": "external" } ], "mass": 21834.0, "length": 205, "protein_name": "Low-density lipoprotein receptor class A domain-containing protein 1", "gene_name": "LDLRAD1", "organism": "Human", "refseq_name": "low-density lipoprotein receptor class A domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001010978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010978", "type": "external" } ], "gene_names_uniprotkb": "LDLRAD1", "gene_names_refseq": "LDLRAD1", "protein_names_uniprotkb": "Low-density lipoprotein receptor class A domain-containing protein 1", "protein_names_refseq": "low-density lipoprotein receptor class A domain-containing protein 1 isoform 1; low-density lipoprotein receptor class A domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:388633)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0PJY0;B7ZME3;Q5T6Z9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5T700-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY33-1", "uniprot_id": [ { "id": "MILK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY33", "type": "external" } ], "mass": 97502.0, "length": 904, "protein_name": "MICAL-like protein 2", "gene_name": "MICALL2", "organism": "Human", "refseq_name": "MICAL-like protein 2", "refseq_ac": [ { "id": "NP_891554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_891554", "type": "external" } ], "gene_names_uniprotkb": "MICALL2; JRAB", "gene_names_refseq": "JRAB; MICAL-L2; MICALL2", "protein_names_uniprotkb": "MICAL-like protein 2; Junctional Rab13-binding protein; MICAL-L2; Molecule interacting with CasL-like 2", "protein_names_refseq": "MICAL-like protein 2; junctional Rab13-binding protein; molecule interacting with CasL-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79778)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;12110185;16525024;17891173;18088087;18669648;19651622;19664995;20058876;22299025;23186163;23890175;24275569;25576301;27600516;27869121;28657654;29393594;29557506;30429286;31154438;31217245;31492838;31637018;31844290;32157095;32350084;32387766;32574038;32938616;32938750;33968037;33976349;34171305;34846842;35051231;35132862;35251023;35254053;35513511;36284347;36307841;37340703;38203692;38253038;38665916;39302247;39531497;40596516", "class_list": "", "function": "Comprehensive Analysis of MICALL2 Reveals Its Potential Roles in EGFR Stabilization and Ovarian Cancer Cell Invasion. Publication Status: Online-Only, [RefSeq, PubMed]; Effector of small Rab GTPases which is involved in junctional complexes assembly through the regulation of cell adhesion molecules transport to the plasma membrane and actin cytoskeleton reorganization. Regulates the endocytic recycling of occludins, claudins and E-cadherin to the plasma membrane and may thereby regulate the establishment of tight junctions and adherens junctions. In parallel, may regulate actin cytoskeleton reorganization directly through interaction with F-actin or indirectly through actinins and filamins. Most probably involved in the processes of epithelial cell differentiation, cell spreading and neurite outgrowth (By similarity). Undergoes liquid-liquid phase separation to form tubular recycling endosomes. Plays 2 sequential roles in the biogenesis of tubular recycling endosomes: first organizes phase separation and then the closed form formed by interaction with RAB8A promotes endosomal tubulation (By similarity)., [UniProtKB, UniProtKB]; Involved in epithelial cell scattering., [RefSeq, PubMed]; JRAB/MICAL-L2 undergoes liquid-liquid phase separation to form tubular recycling endosomes. Publication Status: Online-Only, [RefSeq, PubMed]; MICALL2 as a substrate of ubiquitinase TRIM21 regulates tumorigenesis of colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "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": 1, "reported_o_glycosites_with_glycan": 16, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 16, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "D3YTD2;Q7RTP4;Q7Z655;Q8TEQ4;Q9H5F9", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051015 actin filament binding;GO:0031267 small GTPase binding;GO:0031005 filamin binding;GO:0042805 actinin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction;GO:0055037 recycling endosome;GO:0001725 stress fiber", "go_biological_process": "GO:0031175 neuron projection development;GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0030036 actin cytoskeleton organization;GO:0034446 substrate adhesion-dependent cell spreading;GO:0030041 actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q8IY33-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRI5-1", "uniprot_id": [ { "id": "DISC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRI5", "type": "external" } ], "mass": 93611.0, "length": 854, "protein_name": "Disrupted in schizophrenia 1 protein", "gene_name": "DISC1", "organism": "Human", "refseq_name": "disrupted in schizophrenia 1 protein isoform Lv", "refseq_ac": [ { "id": "NP_001012975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012975", "type": "external" } ], "gene_names_uniprotkb": "DISC1; KIAA0457", "gene_names_refseq": "C1orf136; DISC1; SCZD9", "protein_names_uniprotkb": "Disrupted in schizophrenia 1 protein", "protein_names_refseq": "disrupted in schizophrenia 1 protein isoform Lv; disrupted in schizophrenia 1 protein", "tax_id": 9606, "disease": "cutaneous lupus erythematosus (Disease Ontology:DOID:0050169); Asperger syndrome (Disease Ontology:DOID:0050432); colitis (Disease Ontology:DOID:0060180); ileitis (Disease Ontology:DOID:0060189); schizophrenia 9 (Disease Ontology:DOID:0070085); COVID-19 (Disease Ontology:DOID:0080600); childhood-onset asthma (Disease Ontology:DOID:0080815); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); leprosy (Disease Ontology:DOID:1024); pleurisy (Disease Ontology:DOID:10247); tuberculoid leprosy (Disease Ontology:DOID:1025); hypertension (Disease Ontology:DOID:10763); lepromatous leprosy (Disease Ontology:DOID:10887); lipoid nephrosis (Disease Ontology:DOID:10966); trachoma (Disease Ontology:DOID:11265); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); autistic disorder (Disease Ontology:DOID:12849); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); temporal arteritis (Disease Ontology:DOID:13375); major depressive disorder (Disease Ontology:DOID:1470); cystic fibrosis (Disease Ontology:DOID:1485); melancholic depression (Disease Ontology:DOID:1595); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); psychotic disorder (Disease Ontology:DOID:2468); Mycobacterium avium complex disease (Disease Ontology:DOID:2755); asthma (Disease Ontology:DOID:2841); bronchiolitis (Disease Ontology:DOID:2942); pulmonary tuberculosis (Disease Ontology:DOID:2957); substance-related disorder (Disease Ontology:DOID:303); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); bipolar disorder (Disease Ontology:DOID:3312); periodontal disease (Disease Ontology:DOID:3388); plague (Disease Ontology:DOID:3482); pulmonary fibrosis (Disease Ontology:DOID:3770); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); acne (Disease Ontology:DOID:6543); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); myocarditis (Disease Ontology:DOID:820); periapical periodontitis (Disease Ontology:DOID:823); chronic fatigue syndrome (Disease Ontology:DOID:8544); psoriasis (Disease Ontology:DOID:8893); psoriatic arthritis (Disease Ontology:DOID:9008); systemic lupus erythematosus (Disease Ontology:DOID:9074); cutaneous leishmaniasis (Disease Ontology:DOID:9111); acute myocardial infarction (Disease Ontology:DOID:9408); allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:27185)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "10814723;11237011;11468279;12506198;12573262;12812986;14532331;14962739;15386212;15797709;15939883;16510495;17035248;17389905;17519386;18955030;19303846;19502360;19805229;22228767;26992070;28727686;29324815;31154438;32157095;32387766;32502341;32938616;33968037;34509645;35051231;35513527;35580925;36397361;36858606;37668563", "class_list": "", "function": "Combining fMRI and DISC1 gene haplotypes to understand working memory-related brain activity in schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]; Disrupted-in-schizophrenia 1 protein aggregates in cerebrospinal fluid are elevated in patients with first-episode psychosis., [RefSeq, PubMed]; Effects of representative point mutations on dynamic behavior of the DISC1-Ndel1 complex: a molecular dynamics study., [RefSeq, PubMed]; Involved in the regulation of multiple aspects of embryonic and adult neurogenesis (PubMed:19303846, PubMed:19502360). Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus (By similarity). Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance (PubMed:19303846). Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including neuron positioning, dendritic development and synapse formation (By similarity). Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A (By similarity). Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development (PubMed:19502360). Inhibits ATF4 transcription factor activity in neurons by disrupting ATF4 dimerization and DNA-binding (By similarity). Plays a role, together with PCNT, in the microtubule network formation (PubMed:18955030)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth Erratum:[Proc Natl Acad Sci U S A. 2004 Sep 21;101(38):13969], [RefSeq, PubMed]; The variants in PTPRB, TRAF3IP3, and DISC1 genes were associated with Graves' disease in the Chinese population., [RefSeq, PubMed]; This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [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": 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": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 59, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NLH2;C4P091;C4P095;C4P0A1;C4P0A3;C4P0B3;C4P0B6;C4P0C1;C9J6D0;O75045;Q5VT44;Q5VT45;Q8IXJ0;Q8IXJ1;Q9BX19;Q9NRI3;Q9NRI4", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0019894 kinesin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005739 mitochondrion;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0010976 positive regulation of neuron projection development;GO:0001764 neuron migration;GO:0007420 brain development;GO:0060271 cilium assembly;GO:0031929 TOR signaling", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9NRI5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NTW7-1", "uniprot_id": [ { "id": "ZF64B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NTW7", "type": "external" } ], "mass": 72217.0, "length": 645, "protein_name": "Zinc finger protein 64", "gene_name": "ZFP64", "organism": "Human", "refseq_name": "zinc finger protein 64 isoform a", "refseq_ac": [ { "id": "NP_060667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060667", "type": "external" } ], "gene_names_uniprotkb": "ZFP64; ZNF338", "gene_names_refseq": "ZFP64; ZNF338", "protein_names_uniprotkb": "Zinc finger protein 64; Zfp-64; Zinc finger protein 338", "protein_names_refseq": "zinc finger protein 338; zinc finger protein 64 homolog; zinc finger protein 64 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:55734)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;16959974;18430783;20068231;23301498;27353377;28832583;29242379;30379171;30429286;30833945;31844290;31848261;32157095;32488085;32897882;32938616;33054540;33912179;33981976;34019948;34087483;34171305;34932366;35051231;35219791;35521817;35580925;35843097;36010968;36284347;38665916", "class_list": "", "function": "Function and mechanism exploration of zinc finger protein 64 in lung adenocarcinoma cell growth and metastasis., [RefSeq, PubMed]; May be involved in the regulation of mesenchymal cell differentiation through transactivation of NOTCH1 target genes., [UniProtKB, UniProtKB]; ZFP64 transcriptionally activates PD-1 and CTLA-4 and plays an oncogenic role in esophageal cancer., [RefSeq, PubMed]; ZFP64::NCOA3 gene fusion defines a novel subset of spindle cell rhabdomyosarcoma., [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": 0, "reported_glycation": 0, "reported_snv": 10, "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": "A2A2N4;Q53H69;Q53XQ1;Q5JWM0;Q5JWM1;Q8WU98;Q9H9P1;Q9NPA5;Q9NTS7;Q9NVH4", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0043076 megasporocyte nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0048762 mesenchymal cell differentiation;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9NTW7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95251-1", "uniprot_id": [ { "id": "KAT7_HUMAN", "url": "https://www.uniprot.org/uniprot/O95251", "type": "external" } ], "mass": 70642.0, "length": 611, "protein_name": "Histone acetyltransferase KAT7", "gene_name": "KAT7", "organism": "Human", "refseq_name": "histone acetyltransferase KAT7 isoform 2", "refseq_ac": [ { "id": "NP_001186084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186084", "type": "external" } ], "gene_names_uniprotkb": "KAT7; HBO1; HBOa; MYST2", "gene_names_refseq": "HBO1; HBOA; KAT7; MYST2; ZC2HC7", "protein_names_uniprotkb": "Histone acetyltransferase KAT7; 2.3.1.48; Histone acetyltransferase binding to ORC1; Lysine acetyltransferase 7; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2; MYST-2", "protein_names_refseq": "K(lysine) acetyltransferase 7; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2; MYST histone acetyltransferase 2; histone acetyltransferase KAT7 isoform 2; histone acetyltransferase KAT7; histone acetyltransferase MYST2; histone acetyltransferase binding to ORC1", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); androgen insensitivity syndrome (Disease Ontology:DOID:4674)", "pathway": " (hsa:11143); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10438470;10786633;10821277;10930412;11237011;11278932;11978794;12034878;15313887;16387653;16964243;16997280;17081983;17525332;17954561;18077418;18250300;18381289;18452278;18623064;18669648;18832067;19007248;19187765;19187766;19413330;19608861;19651622;19664994;19664995;19690332;19691289;20018852;20068231;20129055;21406692;21753189;21856198;23186163;23319590;23481700;23955388;24065767;24275569;24715725;25576301;25892735;26572825;26620551;26992070;27270040;27846572;28334966;28719581;28904123;29382722;29437277;29493099;29557506;29632711;30315122;30379171;30429286;31217245;31767635;31827282;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33968037;33981976;34019948;34171305;34185709;34932366;35051231;35580925;36010968;36241641;36284347;36581221;37217939;37542030;37779410;38421638;38797155;39321266;9427644;9558366;9880483", "class_list": "", "function": "Adipose Mesenchymal Stem Cell-derived Exosomes Enhanced Glycolysis through the SIX1/HBO1 Pathway against Oxygen and Glucose Deprivation Injury in Human Umbilical Vein Endothelial Cells., [RefSeq, PubMed]; Catalytic subunit of histone acetyltransferase HBO1 complexes, which specifically mediate acetylation of histone H3 at 'Lys-14' (H3K14ac), thereby regulating various processes, such as gene transcription, protein ubiquitination, immune regulation, stem cell pluripotent and self-renewal maintenance and embryonic development (PubMed:16387653, PubMed:21753189, PubMed:24065767, PubMed:26620551, PubMed:31767635, PubMed:31827282). Some complexes also catalyze acetylation of histone H4 at 'Lys-5', 'Lys-8' and 'Lys-12' (H4K5ac, H4K8ac and H4K12ac, respectively), regulating DNA replication initiation, regulating DNA replication initiation (PubMed:10438470, PubMed:19187766, PubMed:20129055, PubMed:24065767). Specificity of the HBO1 complexes is determined by the scaffold subunit: complexes containing BRPF scaffold (BRPF1, BRD1/BRPF2 or BRPF3) direct KAT7/HBO1 specificity towards H3K14ac, while complexes containing JADE (JADE1, JADE2 and JADE3) scaffold direct KAT7/HBO1 specificity towards histone H4 (PubMed:19187766, PubMed:20129055, PubMed:24065767, PubMed:26620551). H3K14ac promotes transcriptional elongation by facilitating the processivity of RNA polymerase II (PubMed:31827282). Acts as a key regulator of hematopoiesis by forming a complex with BRD1/BRPF2, directing KAT7/HBO1 specificity towards H3K14ac and promoting erythroid differentiation (PubMed:21753189). H3K14ac is also required for T-cell development (By similarity). KAT7/HBO1-mediated acetylation facilitates two consecutive steps, licensing and activation, in DNA replication initiation: H3K14ac facilitates the activation of replication origins, and histone H4 acetylation (H4K5ac, H4K8ac and H4K12ac) facilitates chromatin loading of MCM complexes, promoting DNA replication licensing (PubMed:10438470, PubMed:11278932, PubMed:18832067, PubMed:19187766, PubMed:20129055, PubMed:21856198, PubMed:24065767, PubMed:26620551). Acts as a positive regulator of centromeric CENPA assembly: recruited to centromeres and mediates histone acetylation, thereby preventing centromere inactivation mediated by SUV39H1, possibly by increasing histone turnover/exchange (PubMed:27270040). Involved in nucleotide excision repair: phosphorylation by ATR in response to ultraviolet irradiation promotes its localization to DNA damage sites, where it mediates histone acetylation to facilitate recruitment of XPC at the damaged DNA sites (PubMed:28719581). Acts as an inhibitor of NF-kappa-B independently of its histone acetyltransferase activity (PubMed:16997280)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HBO1 determines SMAD action in pluripotency and mesendoderm specification., [RefSeq, PubMed]; Histone acetylation by HBO1 (KAT7) activates Wnt/beta-catenin signaling to promote leukemogenesis in B-cell acute lymphoblastic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition by Set/TAF-1beta inhibits active demethylation of DNA, integrating DNA methylation and transcriptional silencing, [RefSeq, PubMed]; KAT7 serves as an oncogenic gene and regulates CCL3 expression via STAT1 signaling in osteosarcoma., [RefSeq, PubMed]; Ordered recruitmenet to thyroid hormone-responsive promoters in vivo, [RefSeq, PubMed]; Plays a central role in the maintenance of leukemia stem cells in acute myeloid leukemia (AML) (PubMed:31827282). Acts by mediating acetylation of histone H3 at 'Lys-14' (H3K14ac), thereby facilitating the processivity of RNA polymerase II to maintain the high expression of key genes, such as HOXA9 and HOXA10 that help to sustain the functional properties of leukemia stem cells (PubMed:31827282)., [UniProtKB, PubMed]; Spermidine metabolism regulates leukemia stem and progenitor cell function through KAT7 expression in patient-derived mouse models., [RefSeq, PubMed]; The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed. [provided by RefSeq, Oct 2016]., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 28, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KN74;B4DF85;B4DFB4;B4DFE0;B4DGY4;E7ER15;G5E9K7", "ec_number_list": [ { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "2.3.1.259", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.259", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.80", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.80", "type": "external" } ], "go_molecular_function": "GO:0003688 DNA replication origin binding;GO:0043997 histone H4K12 acetyltransferase activity;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000775 chromosome, centromeric region;GO:0000785 chromatin", "go_biological_process": "GO:0001779 natural killer cell differentiation;GO:0030174 regulation of DNA-templated DNA replication initiation;GO:0072708 response to sorbitol;GO:2000278 regulation of DNA biosynthetic process;GO:2000819 regulation of nucleotide-excision repair", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "O95251-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02768-1", "uniprot_id": [ { "id": "ALBU_HUMAN", "url": "https://www.uniprot.org/uniprot/P02768", "type": "external" } ], "mass": 69367.0, "length": 609, "protein_name": "Albumin", "gene_name": "ALB", "organism": "Human", "refseq_name": "albumin preproprotein", "refseq_ac": [ { "id": "NP_000468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000468", "type": "external" } ], "gene_names_uniprotkb": "ALB; GIG20; GIG42; PRO0903; PRO1341; PRO1708; PRO2044; PRO2619; PRO2675", "gene_names_refseq": "ALB; FDAHT; HSA; PRO0883; PRO0903; PRO1341", "protein_names_uniprotkb": "Albumin", "protein_names_refseq": "albumin preproprotein; serum albumin", "tax_id": 9606, "disease": "biliary tract benign neoplasm (Disease Ontology:DOID:0050625); Zollinger-Ellison syndrome (Disease Ontology:DOID:0050782); stroke (Disease Ontology:DOID:0051061); COVID-19 (Disease Ontology:DOID:0080600); pre-eclampsia (Disease Ontology:DOID:10591); esophageal varix (Disease Ontology:DOID:112); Hantavirus hemorrhagic fever with renal syndrome (Disease Ontology:DOID:11266); heart disease (Disease Ontology:DOID:114); familial hyperlipidemia (Disease Ontology:DOID:1168); protein-energy malnutrition (Disease Ontology:DOID:11801); nephrotic syndrome (Disease Ontology:DOID:1184); alcoholic hepatitis (Disease Ontology:DOID:12351); leukemia (Disease Ontology:DOID:1240); twin-to-twin transfusion syndrome (Disease Ontology:DOID:13576); cholestasis (Disease Ontology:DOID:13580); obstructive jaundice (Disease Ontology:DOID:13603); root caries (Disease Ontology:DOID:14089); Reye syndrome (Disease Ontology:DOID:14525); pancreatic cancer (Disease Ontology:DOID:1793); hyperthyroxinemia (Disease Ontology:DOID:2855); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); lung non-small cell carcinoma (Disease Ontology:DOID:3908); cholangiocarcinoma (Disease Ontology:DOID:4947); liver cirrhosis (Disease Ontology:DOID:5082); pneumonia (Disease Ontology:DOID:552); proteinuria (Disease Ontology:DOID:576); congestive heart failure (Disease Ontology:DOID:6000); blood protein disease (Disease Ontology:DOID:620); gastric cardia adenocarcinoma (Disease Ontology:DOID:6271); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); psoriasis (Disease Ontology:DOID:8893); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); multiple myeloma (Disease Ontology:DOID:9538); pulmonary emphysema (Disease Ontology:DOID:9675); hyperthyroxinemia, familial dysalbuminemic (MONDO:MONDO:0014448); congenital analbuminemia (MONDO:MONDO:0014449)", "pathway": " (hsa:213); (R-HSA-114608); (R-HSA-159418); (R-HSA-189451); (R-HSA-189483); (R-HSA-2168880); (R-HSA-381426); (R-HSA-8957275); (R-HSA-8964058); (R-HSA-9707564); (R-HSA-9749641); (R-HSA-9757110); (R-HSA-9793528)", "pathway_count": 13, "publication_count": 436, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;10026136;10077652;1008494;10218588;10220572;10334992;10334993;10358072;10381560;10388840;10421658;10434065;10484077;10512690;10601278;10614670;10620517;10644574;10665657;10673364;10681634;10706561;10729196;10810289;10884298;10898936;10912521;10940303;10951195;10987286;10990447;11023036;11032836;11032841;11134001;11158056;11159893;11168369;11175906;11196644;11237011;11250653;11264294;11316783;11387316;11397817;11483580;11504826;11522292;1157293;11581266;11606061;11680902;11738084;11739083;11743713;11751371;11788658;11870371;11877257;11877335;11902585;11912245;11980911;12220224;12241545;1225573;12379487;12379510;12393883;12404239;12404240;12466191;12466373;12474143;12486725;1252417;12604685;12616642;12663868;12665801;12673034;12704183;12773194;12810533;12815072;12904166;12969439;12975309;13342742;13416382;13472068;1347703;1352877;1356264;1359686;1370451;13741103;1383255;1435334;14559902;14630798;14661924;14699511;15001581;15047055;15126567;15175422;1518850;15235026;15245331;15297306;15308688;15448162;15469690;15472518;15485880;15525596;15542058;15642270;15697213;15716365;15832500;15863660;15901800;15904907;15947085;15994327;16046400;16121195;16176984;16189277;16258079;16258391;1630489;16317684;16326978;1646599;16541101;16568091;16602760;16778136;16837570;16858120;16908160;16943252;16968945;17008602;17016520;17047378;17102136;1710827;17200165;17237796;17249697;17264172;17274666;17312271;17482904;17639028;17650074;1783992;17845074;17975675;17985932;18083107;18200507;18282684;18318008;18381565;18513745;18556779;18566446;1859851;1864287;18702456;19021548;19117535;19324878;1939222;19447222;1946412;19567873;19650691;1968359;19690164;19690332;19824718;19836360;19862647;19968714;20166139;20190787;2037576;20430887;20496030;20583968;20621639;2068071;20705604;20920479;20929863;2104980;21490593;21824501;21930826;22232210;22344233;22354288;22424782;22427940;2247440;22492620;22674043;22823425;22841915;22922649;23018617;23063411;23337244;23467411;23545524;23584533;23640497;23719902;2374930;2404284;24129315;2419329;24275569;2437111;2476804;2479552;24913236;25645385;2570070;25800201;25840124;26091039;26208431;2639662;26853435;26992070;2727704;27411675;2762316;27726376;27862975;28035807;2806549;28132103;28330995;2833496;2833500;28467828;28505497;28510447;28567254;28677105;28698372;2876781;2898143;2911589;29351928;29437277;29493099;29557506;29632711;3009475;30137266;30410026;30429286;30459171;3087352;31004787;31217245;31323489;3158274;31701669;31844290;32048163;32157095;32162841;32296824;32304745;32350084;32363891;32387766;32479790;32488085;32490680;32897882;32938616;32981041;33043033;33091337;33214551;33298915;3342084;33912179;33968037;33981976;34019948;34087483;34171305;3427020;34357683;34509645;3472246;3474609;3475708;3479777;35051231;35154160;35251023;35318648;35494241;35580925;3593903;36010968;36215666;36241641;3705620;3709632;3759977;37938771;3805019;3828358;3891754;38968411;39339470;40596516;4074707;41018975;4327491;4335615;4340992;4360812;496916;4980931;5013373;5135507;5773090;5862532;5865378;6094553;6171778;6234017;6275391;6457647;6480598;6492791;656055;6619141;666752;6706980;6777177;6822570;683332;6838677;6849882;6853480;7073761;7077161;7195405;7206363;7263686;7287740;7310640;7354069;7372607;7378053;7400951;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7557095;7588203;7588299;7588781;7592565;7683646;7689487;7802672;7841792;7852505;7865904;7895732;7902134;8022807;8034703;8048949;8078902;8132774;8134387;8159699;8347685;8383921;8424694;8467233;8513793;8644733;8771201;8781553;8817670;8855948;8894645;8964575;9144407;9177788;9183005;9283689;931988;9329347;9497324;9543163;955075;9589637;9652413;9709957;971416;9731778;9733769;975718;9786878;9816258;9829992;9878253;9922210", "class_list": "", "function": "A Multi-Spectroscopic and Molecular Docking Analysis of the Biophysical Interaction between Food Polyphenols, Urolithins, and Human Serum Albumin. Publication Status: Online-Only, [RefSeq, PubMed]; Binds water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs (Probable). Its main function is the regulation of the colloidal osmotic pressure of blood (Probable). Major zinc transporter in plasma, typically binds about 80% of all plasma zinc (PubMed:19021548). Major calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma (By similarity). Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific manner (By similarity). The shared binding site between zinc and calcium at residue Asp-273 suggests a crosstalk between zinc and calcium transport in the blood (By similarity). The rank order of affinity is zinc > calcium > magnesium (By similarity). Binds to the bacterial siderophore enterobactin and inhibits enterobactin-mediated iron uptake of E.coli from ferric transferrin, and may thereby limit the utilization of iron and growth of enteric bacteria such as E.coli (PubMed:6234017). Does not prevent iron uptake by the bacterial siderophore aerobactin (PubMed:6234017)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Binds water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc. Major calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma. Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific manner. The shared binding site between zinc and calcium at residue Asp-273 suggests a crosstalk between zinc and calcium transport in the blood. The rank order of affinity is zinc > calcium > magnesium. Binds to the bacterial siderophore enterobactin and inhibits enterobactin-mediated iron uptake of E.coli from ferric transferrin, and may thereby limit the utilization of iron and growth of enteric bacteria such as E.coli. Does not prevent iron uptake by the bacterial siderophore aerobactin., [UniProtKB, UniProtKB]; Plasma Glycated Albumin in Early Pregnancy and Gestational Diabetes Mellitus: A Prospective and Longitudinal Study., [RefSeq, PubMed]; This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 14, "reported_mutagensis": 1, "reported_glycation": 22, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 8, "disease_count": 38, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "E7ESS9;O95574;P04277;Q13140;Q645G4;Q68DN5;Q6UXK4;Q86YG0;Q8IUK7;Q9P157;Q9P1I7;Q9UHS3;Q9UJZ0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005504 fatty acid binding;GO:0015643 toxic substance binding;GO:0030170 pyridoxal phosphate binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005788 endoplasmic reticulum lumen;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0031667 response to nutrient levels;GO:0034599 cellular response to oxidative stress;GO:0009267 cellular response to starvation;GO:0042167 heme catabolic process;GO:0006783 heme biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 45.6, "record_id": "P02768-1", "record_type": "protein", "filter_code": "0001000.1110111.100000.000000000001000000.1100010000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15397-1", "uniprot_id": [ { "id": "IPO8_HUMAN", "url": "https://www.uniprot.org/uniprot/O15397", "type": "external" } ], "mass": 119938.0, "length": 1037, "protein_name": "Importin-8", "gene_name": "IPO8", "organism": "Human", "refseq_name": "importin-8 isoform 2", "refseq_ac": [ { "id": "NP_001177924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177924", "type": "external" } ], "gene_names_uniprotkb": "IPO8; RANBP8", "gene_names_refseq": "IPO8; RANBP8; VISS", "protein_names_uniprotkb": "Importin-8; Imp8; Ran-binding protein 8; RanBP8", "protein_names_refseq": "RAN binding protein 8; imp8; importin-8 isoform 2; ran-binding protein 8", "tax_id": 9606, "disease": "VISS syndrome (MONDO:MONDO:0859177)", "pathway": " (hsa:10526); (R-HSA-5578749)", "pathway_count": 2, "publication_count": 123, "publication_id_list": "11237011;11682607;13130130;15643423;16373483;16936726;17085592;18452278;18669648;18691976;18842624;18852463;18978028;18991276;19167051;19383768;19383769;19398495;19690332;21406692;21427083;21589992;22064859;22445173;22722852;22869377;22961379;23150874;23481700;23882114;24086155;24366607;24388755;24596094;24714562;24715725;25313066;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28325843;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;29789417;29930882;30315122;30377343;30379171;30429286;30779550;30784271;30833945;31092671;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33875846;33912179;33968037;33981976;34010604;34010605;34019948;34087483;34171305;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37938771;38665916;40307207;9214382", "class_list": "", "function": "A human importin-beta-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8., [RefSeq, PubMed]; Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation., [RefSeq, PubMed]; Involved in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, may serve as receptor for nuclear localization signals (NLS) and promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (PubMed:9214382). In vitro mediates the nuclear import of the signal recognition particle protein SRP19 (PubMed:11682607). May also be involved in cytoplasm-to-nucleus shuttling of a broad spectrum of other cargos, including Argonaute-microRNAs complexes, the JUN protein, RELA/NF-kappa-B p65 subunit, the translation initiation factor EIF4E and a set of receptor-activated mothers against decapentaplegic homolog (SMAD) transcription factors that play a critical role downstream of the large family of transforming growth factor beta and bone morphogenetic protein (BMP) cytokines (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]., [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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "B7Z7M3", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005634 nucleus", "go_biological_process": "GO:0007165 signal transduction;GO:0006606 protein import into nucleus;GO:0006886 intracellular protein transport", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "O15397-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O96028-1", "uniprot_id": [ { "id": "NSD2_HUMAN", "url": "https://www.uniprot.org/uniprot/O96028", "type": "external" } ], "mass": 152258.0, "length": 1365, "protein_name": "Histone-lysine N-methyltransferase NSD2", "gene_name": "NSD2", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase NSD2 isoform 1", "refseq_ac": [ { "id": "NP_001035889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035889", "type": "external" } ], "gene_names_uniprotkb": "NSD2; KIAA1090; MMSET; TRX5; WHSC1", "gene_names_refseq": "KMT3F; KMT3G; MMSET; NSD2; RAUST; REIIBP; TRX5; WHSC1; WHS", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase NSD2; 2.1.1.357; MMSET; Multiple myeloma SET domain-containing protein; Nuclear SET domain-containing protein 2; Protein trithorax-5; Wolf-Hirschhorn syndrome candidate 1 protein", "protein_names_refseq": "IL5 promoter REII region-binding protein; Wolf-Hirschhorn syndrome candidate 1; histone-lysine N-methyltransferase NSD2 isoform 1; multiple myeloma SET domain containing protein type III; nuclear SET domain-containing protein 2; probable histone-lysine N-methyltransferase NSD2; trithorax/ash1-related protein 5", "tax_id": 9606, "disease": "Wolf-Hirschhorn syndrome (Disease Ontology:DOID:0050460); Sotos syndrome 1 (Disease Ontology:DOID:0112103); syndrome (Disease Ontology:DOID:225); lung non-small cell carcinoma (Disease Ontology:DOID:3908); Rauch-Steindl syndrome (MONDO:MONDO:0859219)", "pathway": " (hsa:7468); (R-HSA-3214841); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-69473)", "pathway_count": 6, "publication_count": 301, "publication_id_list": "10550055;10572166;10724175;10757784;10766245;10802669;10859164;10866324;10945609;10949293;10959836;10973490;11025670;11080452;11114888;11139606;11152655;11237011;11301010;11337357;11376695;11390408;11390642;11493912;11571274;11573085;11604075;11702069;11893489;11927591;11934988;11955432;11959841;12023295;12077346;12123582;12130538;12152085;12186630;12231622;12364621;12433679;12447390;12453418;12485996;12509254;12540855;12545175;12578958;12607003;12607005;12670868;12697768;12773400;12791985;12792649;12832489;12890688;12897153;12947387;14536086;14560035;14561766;14576433;14690610;14992727;15064416;15145825;15177042;15189136;15190204;15201865;15235609;15257719;15279782;15451442;15468306;15574327;15677557;15707391;15723659;15734578;15964846;16061182;16093244;16115125;16118227;16148040;16150728;16153896;16197452;16199523;16292313;16327781;16360315;16377563;16427009;16439204;16439205;16519522;16530042;16600297;16651405;16682010;16805913;16874298;16885023;16914548;17021013;17081983;17290226;17470781;17500065;17525332;17525340;17544230;17553757;17575048;17707229;17848578;17928296;17965729;18001824;18001825;18006705;18046455;18077395;18171670;18172012;18397950;18443292;18452278;18644861;18669648;18805091;18923075;18971343;19001859;19007248;19092802;19117993;19176521;19203578;19203579;19234442;19261749;19351884;19357644;19413330;19419957;19505854;19651622;19690332;19691289;19782031;19808676;20016603;20023648;20068231;20154705;20233725;20351172;21052091;21131967;21196496;21240188;21263215;21282113;21293379;21325134;21335604;21659603;21680713;21777809;21779408;21832073;22021381;22024395;22099308;22179609;22231403;22234877;22373579;22508508;22529269;22589545;22635276;22661229;22661230;22792074;22908299;22939622;22977173;22980979;23186163;23306437;23333306;23345434;23468639;23481700;23505375;23727112;24129315;24236237;24366607;24667604;24714562;24715725;25113031;25122754;25512557;25558984;25576301;25659039;25818648;25841101;26728094;26992070;27058226;27571355;27600516;27846572;27893789;27920218;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29728617;29760529;29786170;29892088;30315122;30379171;30484775;30524438;30779550;30833945;31154438;31217245;31492838;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33941880;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35561310;35580925;36010968;36172813;36215666;36241641;37938771;38353053;38598835;38709169;38889281;39251788;8422676;8944023;9168116;9259561;9430729;9488723;9512523;9618163;9705271;9787135;9826654", "class_list": "", "function": "Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants., [RefSeq, PubMed]; Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2) (PubMed:19808676, PubMed:22099308, PubMed:27571355, PubMed:29728617, PubMed:33941880). Also monomethylates nucleosomal histone H3 at 'Lys-36' (H3K36me) in vitro (PubMed:22099308). Does not trimethylate nucleosomal histone H3 at 'Lys-36' (H3K36me3) (PubMed:22099308). However, specifically trimethylates histone H3 at 'Lys-36' (H3K36me3) at euchromatic regions in embryonic stem (ES) cells (By similarity). By methylating histone H3 at 'Lys-36', involved in the regulation of gene transcription during various biological processes (PubMed:16115125, PubMed:22099308, PubMed:29728617). In ES cells, associates with developmental transcription factors such as SALL1 and represses inappropriate gene transcription mediated by histone deacetylation (By similarity). During heart development, associates with transcription factor NKX2-5 to repress transcription of NKX2-5 target genes (By similarity). Plays an essential role in adipogenesis, by regulating expression of genes involved in pre-adipocyte differentiation (PubMed:29728617). During T-cell receptor (TCR) and CD28-mediated T-cell activation, promotes the transcription of transcription factor BCL6 which is required for follicular helper T (Tfh) cell differentiation (By similarity). During B-cell development, required for the generation of the B1 lineage (By similarity). During B2 cell activation, may contribute to the control of isotype class switch recombination (CRS), splenic germinal center formation, and the humoral immune response (By similarity). Plays a role in class switch recombination of the immunoglobulin heavy chain (IgH) locus during B-cell activation (By similarity). By regulating the methylation of histone H3 at 'Lys-36' and histone H4 at 'Lys-20' at the IgH locus, involved in TP53BP1 recruitment to the IgH switch region and promotes the transcription of IgA (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; ISWI chromatin remodeling complexes recruit NSD2 and H3K36me2 in pericentromeric heterochromatin., [RefSeq, PubMed]; Multilevel Regulation of NF-kappaB Signaling by NSD2 Suppresses Kras-Driven Pancreatic Tumorigenesis., [RefSeq, PubMed]; NSD2 drives t(4;14) myeloma cell dependence on adenylate kinase 2 by diverting one-carbon metabolism to the epigenome., [RefSeq, PubMed]; NSD2 is a requisite subunit of the AR/FOXA1 neo-enhanceosome in promoting prostate tumorigenesis., [RefSeq, PubMed]; This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [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, "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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A2A2T2;A2A2T3;A2A2T4;A7MCZ1;D3DVQ2;O96031;Q4VBY8;Q672J1;Q6IS00;Q86V01;Q9BZB4;Q9UI92;Q9UPR2", "ec_number_list": [ { "id": "1.14.11.69", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.69", "type": "external" }, { "id": "1.14.11.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.66", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.357", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.4.19.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.1.1.370", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.370", "type": "external" }, { "id": "2.1.1.371", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.371", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.354", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.354", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0043565 sequence-specific DNA binding;GO:0046975 histone H3K36 methyltransferase activity;GO:0042799 histone H4K20 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0006302 double-strand break repair;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 30.7, "record_id": "O96028-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y653-1", "uniprot_id": [ { "id": "AGRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y653", "type": "external" } ], "mass": 77738.0, "length": 693, "protein_name": "Adhesion G protein-coupled receptor G1", "gene_name": "ADGRG1", "organism": "Human", "refseq_name": "adhesion G-protein coupled receptor G1 isoform b precursor", "refseq_ac": [ { "id": "NP_001139242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139242", "type": "external" } ], "gene_names_uniprotkb": "ADGRG1; GPR56; PRO1083; TM7LN4; TM7XN1", "gene_names_refseq": "ADGRG1; BFPP; BPPR; CDCBM14B; CDCBM15A; GPR56; TM7LN4; TM7XN1", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor G1; ADGRG1 C-terminal fragment; ADGRG1 CT; ADGRG1 N-terminal fragment; ADGRG1 NT; G protein-coupled receptor 56; GPR56 7TM; GPR56 C-terminal fragment; GPR56 CT; GPR56 N-terminal fragment; GPR56 NT; GPR56 extracellular subunit; GPR56 seven-transmembrane subunit; GPR56 subunit alpha; GPR56 subunit beta; GPR56(C); GPR56(N)", "protein_names_refseq": "7-transmembrane protein with no EGF-like N-terminal domains-1; G protein-coupled receptor 56; adhesion G-protein coupled receptor G1 isoform b precursor; testicular tissue protein Li 77", "tax_id": 9606, "disease": "complex cortical dysplasia with other brain malformations 14A (Disease Ontology:DOID:0080922); complex cortical dysplasia with other brain malformations 14B (Disease Ontology:DOID:0080924)", "pathway": " (hsa:9289)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10049584;10100861;11237011;12975309;15004227;15044805;15340161;16240336;16757564;17081983;19572147;21349848;21708946;21723461;21724588;22238662;22333914;23090970;23584533;24190977;24531968;24949629;25502872;25645385;25813380;25918380;26710850;27068534;27600516;28258187;28424266;28874577;29242379;29557506;29707406;29741879;29786170;30511534;30524438;30573663;31154438;31844290;31848261;32157095;32350084;32488085;32502341;32938616;33097663;33392160;33537174;33592498;33968037;33981976;34087483;34171305;34185709;34513772;35051231;35418682;36241641;36284347;36524291;37074911;37673336;38809082;38840413;39320215;39389061;41018975", "class_list": "", "function": "Adhesion G protein-coupled receptor (aGPCR) for phosphatidylserine, which is involved in microglia-mediated synapse pruning during development (By similarity). Required to maintain appropriate synaptic numbers in several brain regions in a time- and circuit-dependent fashion: phosphatidylserine-binding acts as a 'eat-me' signal for apoptotic cells, leading to microglial engulfment of phosphatidylserine-positive synapses (By similarity)., [UniProtKB, UniProtKB]; Adhesion G protein-coupled receptor (aGPCR) for steroid hormone 17alpha-hydroxypregnenolone (17-OH), which is involved in cell adhesion and cell-cell interactions (PubMed:39389061). 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 RhoA pathway (PubMed:28874577, PubMed:35418682, PubMed:39389061). ADGRG1 is coupled to G(12) and/or G(13) G proteins (GNA12 and GNA13, respectively) and mediates the activation Rho small GTPases (PubMed:22238662, PubMed:28424266, PubMed:35418682, PubMed:39389061). Acts as a potent suppressor of ferroptosis: binding to 17-OH-binding initiates signaling that down-regulates CD36 and alleviates ferroptosis-induced liver injury (By similarity). Ligand-binding also induces cell adhesion activity via association with proteins such as collagen III/COL3A1 and TGM2 (By similarity). Mediates cell matrix adhesion in developing neurons and hematopoietic stem cells (By similarity). Involved in cortical development, specifically in maintenance of the pial basement membrane integrity and in cortical lamination: association with COL3A1 in the developing brain inhibits neuronal migration via activation of the RhoA pathway (PubMed:24531968). Together with TGM2, acts as a regulator of myelination and myelin repair in oligodendrocyte precursor cells (By similarity). Acts as a hemostatic sensor of shear force: G protein-coupled receptor signaling is activated in response to shear force in platelets, promoting G(13) G protein signaling, and platelet shape change and aggregation in a COL3A1-dependent manner (PubMed:33097663). Acts as an inhibitor of VEGFA production thereby inhibiting angiogenesis through a signaling pathway mediated by PRKCA (PubMed:16757564, PubMed:19572147, PubMed:21724588). Plays a role in the maintenance of hematopoietic stem cells in bone marrow niche (By similarity). Plays an essential role in testis development (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Differential GPR56 Expression in T Cell Subpopulations for Early-Stage Lung Adenocarcinoma Patient Identification., [RefSeq, PubMed]; Expression of GPR56 reflects a hypoactivated state of circulating B cells and is downregulated in B cell subsets in patients with early-stage lung adenocarcinoma., [RefSeq, PubMed]; Results show that mutations in GPR56 cause a human brain cortical malformatin called bilateral frontoparietal polymicrogyria (BFPP); data suggest that GPR56 signaling plays an essential role in regional development of human cerebral cortex, [RefSeq, PubMed]; The G Protein-Coupled Receptor GPR56 Is an Inhibitory Checkpoint for NK Cell Migration., [RefSeq, PubMed]; This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 4, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 31, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A6NIT7;A6NJV9;B0M0K4;B4DR54;O95966;Q6ZMP1;Q8NGB3;Q96HB4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008201 heparin binding;GO:0005518 collagen binding;GO:0050840 extracellular matrix binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045121 membrane raft;GO:0070062 extracellular exosome;GO:0097451 glial limiting end-foot", "go_biological_process": "GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q9Y653-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15409-1", "uniprot_id": [ { "id": "FOXP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15409", "type": "external" } ], "mass": 79919.0, "length": 715, "protein_name": "Forkhead box protein P2", "gene_name": "FOXP2", "organism": "Human", "refseq_name": "forkhead box protein P2 isoform V", "refseq_ac": [ { "id": "NP_001166237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166237", "type": "external" } ], "gene_names_uniprotkb": "FOXP2; CAGH44; TNRC10", "gene_names_refseq": "CAGH44; FOXP2; SPCH1; TNRC10", "protein_names_uniprotkb": "Forkhead box protein P2; CAG repeat protein 44; Trinucleotide repeat-containing gene 10 protein", "protein_names_refseq": "CAG repeat protein 44; forkhead box protein P2 isoform V; forkhead box protein P2; forkhead/winged-helix transcription factor; trinucleotide repeat containing 10; trinucleotide repeat-containing gene 10 protein", "tax_id": 9606, "disease": "specific developmental disorder (Disease Ontology:DOID:0060038); autism spectrum disorder (Disease Ontology:DOID:0060041); speech-language disorder-1 (Disease Ontology:DOID:0111275); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); autistic disorder (Disease Ontology:DOID:12849); major depressive disorder (Disease Ontology:DOID:1470); articulation disorder (Disease Ontology:DOID:4186); dyslexia (Disease Ontology:DOID:4428); schizophrenia (Disease Ontology:DOID:5419); language disorder (Disease Ontology:DOID:93)", "pathway": " (hsa:93986); (R-HSA-9764790)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11586359;12189486;12192408;12655497;15056695;16407075;20068231;24722188;25232744;26647308;27397612;27846572;29845391;30206221;30250039;30542730;30620550;31844290;31957176;32357974;32387766;32891193;33592498;33968037;34509645;35051231;35254053;36010968;36420658;37713600;38418803;9225980", "class_list": "", "function": "Disease-causing mutations in FOXP2 map either to the DNA binding surface or the domain-swapping dimer interface, functionally corroborating the crystal structure., [RefSeq, PubMed]; FOXP2 is disrupted by a translocation in CS, a child with severe speech/language disorder. Moreover, a point mutation, altering a critical residue of the forkhead domain, segregates with speech/language deficits in all 15 affected members of family KE., [RefSeq, PubMed]; FOXP2 suppresses the proliferation, invasion, and aerobic glycolysis of hepatocellular carcinoma cells by regulating the KDM5A/FBP1 axis., [RefSeq, PubMed]; Human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution., [RefSeq, PubMed]; Novel FOXP2 variant associated with speech and language dysfunction in a Chinese family and literature review. Review article Erratum:[J Appl Genet. 2024 May;65(2):417. doi: 10.1007/s13353-024-00851-6. PMID: 38523169], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]., [RefSeq]; Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language., [UniProtKB]", "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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 10, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AUV6;A4D0U8;A6NNW4;B4DLD9;Q6ZND1;Q75MJ3;Q8IZE0;Q8N0W2;Q8N6B7;Q8N6B8;Q8NFQ1;Q8NFQ2;Q8NFQ3;Q8NFQ4;Q8TD74;X5D2H2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "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:0021987 cerebral cortex development;GO:0045892 negative regulation of DNA-templated transcription;GO:0021702 cerebellar Purkinje cell differentiation", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "O15409-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14136-1", "uniprot_id": [ { "id": "GFAP_HUMAN", "url": "https://www.uniprot.org/uniprot/P14136", "type": "external" } ], "mass": 49880.0, "length": 432, "protein_name": "Glial fibrillary acidic protein", "gene_name": "GFAP", "organism": "Human", "refseq_name": "glial fibrillary acidic protein isoform 2", "refseq_ac": [ { "id": "NP_001124491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124491", "type": "external" } ], "gene_names_uniprotkb": "GFAP", "gene_names_refseq": "ALXDRD; GFAP", "protein_names_uniprotkb": "Glial fibrillary acidic protein; GFAP", "protein_names_refseq": "glial fibrillary acidic protein isoform 2", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); COVID-19 (Disease Ontology:DOID:0080600); alcohol use disorder (Disease Ontology:DOID:1574); Alexander disease (Disease Ontology:DOID:4252); brain edema (Disease Ontology:DOID:4724); retinal disease (Disease Ontology:DOID:5679)", "pathway": " (hsa:2670); (R-HSA-1251985); (R-HSA-9613829)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "11082038;11138011;11237011;11567214;11595337;11679632;12034785;12034796;12058025;12177195;12581808;12686604;12807903;12837269;12944715;12975300;1379174;15023535;15030911;15534001;15732097;16061658;1636374;16912174;17018285;17043438;17065343;17203480;17805552;17894839;17934883;17960815;18004641;18079314;1847665;18644871;18653779;19047365;19170683;19412928;19531498;19596786;20359319;20797626;2114109;21282471;2155236;2163003;21917775;23230144;23364391;2349237;23743246;23828821;24308844;24742911;24749759;24829397;25828773;26118642;2740350;2780570;28657654;29493099;29557506;29626215;30379171;30397120;30429286;31844290;33875374;33968037;34509645;35051231;38173149;38339819;38782207;38844367;39990658;7822264;8439181;8662539;9038169;9099667;9151685;9175763;9693047;9832553", "class_list": "", "function": "GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Glial Fibrillary Acidic Protein Astrocytopathy: Review of Pathogenesis, Imaging Features, and Radiographic Mimics. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Glial Fibrillary Acidic Protein: Diagnostic and Prognostic Role in Psychomotor Development Dynamics in Patients with Congenital Heart Defects after Cardiovascular Surgery., [RefSeq, PubMed]; Glial fibrillary acidic protein is pathologically modified in Alexander disease., [RefSeq, PubMed]; Relationship between increased serum neurofilament light chain and glial fibrillary acidic protein levels with non-motor symptoms in patients with Parkinson's disease., [RefSeq, PubMed]; This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 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, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 30, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A7REI1;B2RD44;D3DX59;E9PAX3;Q53H98;Q5D055;Q6ZQS3;Q7Z5J6;Q7Z5J7;Q96KS4;Q96P18;Q9UFD0", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0005200 structural constituent of cytoskeleton;GO:0042802 identical protein binding;GO:0019900 kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005882 intermediate filament;GO:0044297 cell body;GO:0042995 cell projection", "go_biological_process": "GO:0048484 enteric nervous system development;GO:0060252 positive regulation of glial cell proliferation;GO:0045471 response to ethanol;GO:0001755 neural crest cell migration;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "P14136-1", "record_type": "protein", "filter_code": "0001000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KN7-1", "uniprot_id": [ { "id": "RPGR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KN7", "type": "external" } ], "mass": 146682.0, "length": 1286, "protein_name": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1", "gene_name": "RPGRIP1", "organism": "Human", "refseq_name": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 1", "refseq_ac": [ { "id": "NP_065099", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065099", "type": "external" } ], "gene_names_uniprotkb": "RPGRIP1", "gene_names_refseq": "CORD13; LCA6; RGI1; RGRIP; RPGRIP1d; RPGRIP1; RPGRIP", "protein_names_uniprotkb": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; RPGR-interacting protein 1", "protein_names_refseq": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 1; X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; retinitis pigmentosa GTPase regulator interacting protein 1", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); Leber congenital amaurosis 6 (Disease Ontology:DOID:0110329); cone-rod dystrophy 13 (Disease Ontology:DOID:0111016); retinitis pigmentosa (Disease Ontology:DOID:10584); Leber hereditary optic neuropathy (Disease Ontology:DOID:705)", "pathway": " (hsa:57096)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10958647;10958648;11237011;11528500;12140192;12920076;16339905;17306875;17554762;18077418;18682808;20200501;21224891;21602930;21685204;23481700;24981858;25398945;27862975;28228285;32502341;33670832;33907365;33970760;34427245;35051231;35494241;36010968;36762997;37217939;39894887", "class_list": "", "function": "May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China., [RefSeq, PubMed]; Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations. Publication Status: Online-Only, [RefSeq, PubMed]; RPGRIP1-related retinal disease presenting as isolated cone dysfunction., [RefSeq, PubMed]; This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]., [RefSeq]; Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort. 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, "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": 5, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 13, "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": "Q7Z2W6;Q8IXV5;Q96QA8;Q9HB94;Q9HB95;Q9HBK6;Q9NR40", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0005930 axoneme;GO:0032391 photoreceptor connecting cilium;GO:0097542 ciliary tip;GO:0120206 photoreceptor distal connecting cilium", "go_biological_process": "GO:0007601 visual perception;GO:0046548 retinal rod cell development;GO:1905515 non-motile cilium assembly", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q96KN7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A5D8V6-1", "uniprot_id": [ { "id": "VP37C_HUMAN", "url": "https://www.uniprot.org/uniprot/A5D8V6", "type": "external" } ], "mass": 38659.0, "length": 355, "protein_name": "Vacuolar protein sorting-associated protein 37C", "gene_name": "VPS37C", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 37C", "refseq_ac": [ { "id": "NP_060436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060436", "type": "external" } ], "gene_names_uniprotkb": "VPS37C; PML39", "gene_names_refseq": "VPS37C", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 37C; ESCRT-I complex subunit VPS37C; hVps37C", "protein_names_refseq": "ESCRT-I complex subunit VPS37C; VPS37C, ESCRT-I subunit; hVps37C; vacuolar protein sorting 37 homolog C; vacuolar protein sorting 37C; vacuolar protein sorting-associated protein 37C", "tax_id": 9606, "disease": "", "pathway": " (hsa:55048); (R-HSA-162588); (R-HSA-174490); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710)", "pathway_count": 6, "publication_count": 45, "publication_id_list": "11112487;11237011;11527981;11563910;12663786;14624836;15075231;15218037;15473846;15509564;15613341;16371348;16775314;16973552;17853893;18005716;18491316;19527882;19640981;21238931;21270402;21289126;21757351;2204156;22405001;22762019;23266279;23305486;25961502;2799391;29242379;29557506;30001391;31092671;32157095;32938616;33592498;33968037;34171305;35051231;36241641;37307706;38665916;9506952;9525617", "class_list": "", "function": "Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation., [UniProtKB, PubMed, UniProtKB, UniProtKB]; VPS37C as a functional component of mammalian endosomal sorting complex required for transport-I, [RefSeq, PubMed]; VPS37C facilitates erythroid differentiation by promoting EKLF stability., [RefSeq, PubMed]; VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM, Mar 2008]., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "Q8N3K4", "ec_number_list": [], "go_molecular_function": "GO:0048306 calcium-dependent protein binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0031902 late endosome membrane;GO:0010008 endosome membrane;GO:0000813 ESCRT I complex", "go_biological_process": "GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex;GO:0043328 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;GO:0006612 protein targeting to membrane;GO:0016236 macroautophagy", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "A5D8V6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96P47-1", "uniprot_id": [ { "id": "AGAP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96P47", "type": "external" } ], "mass": 95044.0, "length": 875, "protein_name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3", "gene_name": "AGAP3", "organism": "Human", "refseq_name": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform b", "refseq_ac": [ { "id": "NP_001036000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036000", "type": "external" } ], "gene_names_uniprotkb": "AGAP3; CENTG3", "gene_names_refseq": "AGAP-3; AGAP3; CENTG3; CRAG; MRIP-1; cnt-g3", "protein_names_uniprotkb": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3; AGAP-3; CRAG; CRAM-associated GTPase; Centaurin-gamma-3; Cnt-g3; MR1-interacting protein; MRIP-1", "protein_names_refseq": "CRAM-associated GTPase; CRMP (collapsin response mediator protein) associated; MR1-interacting protein; arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform b; arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3; centaurin-gamma-3", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:116988)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11237011;12640130;14506264;15381706;16461359;16964243;18669648;23186163;23904596;25576301;26992070;27600516;27846572;27893789;27920218;28218747;28832583;28904123;29242379;29331515;29557506;29786170;30524438;30591445;31217245;31844290;31848261;32157095;32350084;32387766;32488085;32938616;32983136;33298915;33592498;33968037;33981976;34087483;34171305;34398495;34561969;34932366;35051231;35318648;35494241;35580925;36010968;36215666;36241641;36284347;37938771;38071109", "class_list": "", "function": "AGAP3 expression was significantly increased in colorectal cancer (CRC)and colorectal adenoma compared to normal tissue. CRAG overexpression up-regulated c-Jun expression, and significantly increased cell proliferation and colony formation capability. AGAP3 expression did not have a concordant association with patient prognosis among datasets, [RefSeq, PubMed]; AGAP3 is an essential signaling component of the NMDA receptor complex that links NMDA receptor activation to AMPA receptor trafficking., [RefSeq, PubMed]; GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway., [UniProtKB, PubMed]; GTPase-activating protein for the ADP ribosylation factor family. GTPase which may be involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway., [UniProtKB, UniProtKB]; Gastrointestinal stromal tumors with BRAF gene fusions. A report of two cases showing low or absent KIT expression resulting in diagnostic pitfalls., [RefSeq, PubMed]; HUNK inhibits cargo uptake and lysosomal traffic in the caveolar pathway via the AGAP3/ARF6., [RefSeq, PubMed]; M-RIP can assemble a complex containing both RhoA and Myosin phosphatase myosin binding subunit, suggesting that M-RIP may play a role in myosin phosphatase regulation by RhoA, [RefSeq, PubMed]; This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017]., [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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KNZ8;E9PAL8;Q59EN0;Q96RK3", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0005525 GTP binding;GO:0008270 zinc ion binding;GO:0031593 polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0071944 cell periphery", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0034614 cellular response to reactive oxygen species;GO:0099072 regulation of postsynaptic membrane neurotransmitter receptor levels", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q96P47-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MT8-1", "uniprot_id": [ { "id": "CEP63_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MT8", "type": "external" } ], "mass": 81344.0, "length": 703, "protein_name": "Centrosomal protein of 63 kDa", "gene_name": "CEP63", "organism": "Human", "refseq_name": "centrosomal protein of 63 kDa isoform c", "refseq_ac": [ { "id": "NP_001035842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035842", "type": "external" } ], "gene_names_uniprotkb": "CEP63", "gene_names_refseq": "CEP63; SCKL6", "protein_names_uniprotkb": "Centrosomal protein of 63 kDa; Cep63", "protein_names_refseq": "centrosomal protein 63kDa; centrosomal protein of 63 kDa isoform c; centrosome protein CEP63", "tax_id": 9606, "disease": "Seckel syndrome (Disease Ontology:DOID:0050569); Seckel syndrome 6 (Disease Ontology:DOID:0070006)", "pathway": " (hsa:80254); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 121, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21406398;21422230;21548880;21565611;21620453;21725307;21792235;21983783;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24613305;24982133;25047611;25313408;25532896;25576301;25645385;26297806;26768311;26992070;27920218;28063628;28228285;28832583;28834231;29242379;29393594;29557506;29632046;30315122;30429286;30779550;31154438;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32402286;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33402344;33592498;33717175;33912179;33936100;33968037;33981976;34156311;34296302;34561969;35051231;35251023;35580925;35793002;35989368;36010968;7769006;7790358;8838651", "class_list": "", "function": "CEP63 upregulates YAP1 to promote colorectal cancer progression through stabilizing RNA binding protein FXR1., [RefSeq, PubMed]; Cep63 knockout inhibits the malignant phenotypes of papillary thyroid cancer cell line TPC1., [RefSeq, PubMed]; Polymorphism in miRNA target sites of CEP-63 and CEP-152 ring complex influences expression of CEP genes and favors tumorigenesis in glioma., [RefSeq, PubMed]; Required for normal spindle assembly (PubMed:21406398, PubMed:21983783, PubMed:26297806, PubMed:35793002). Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:21983783, PubMed:26297806). Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned (PubMed:21983783, PubMed:26297806). Also recruits CDK1 to centrosomes (PubMed:21406398). Plays a role in DNA damage response (PubMed:21406398). Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (PubMed:21406398). Promotes stabilization of FXR1 protein by inhibiting FXR1 ubiquitination (PubMed:35989368)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [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, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DND8;D3DND9;D3DNE0;Q96CR0;Q9H8F5;Q9H8N0", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005814 centriole;GO:0034451 centriolar satellite", "go_biological_process": "GO:0051301 cell division;GO:0050821 protein stabilization;GO:0042770 signal transduction in response to DNA damage;GO:0000077 DNA damage checkpoint signaling;GO:0051225 spindle assembly", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q96MT8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43572-1", "uniprot_id": [ { "id": "AKA10_HUMAN", "url": "https://www.uniprot.org/uniprot/O43572", "type": "external" } ], "mass": 73818.0, "length": 662, "protein_name": "A-kinase anchor protein 10, mitochondrial", "gene_name": "AKAP10", "organism": "Human", "refseq_name": "A-kinase anchor protein 10, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_009133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009133", "type": "external" } ], "gene_names_uniprotkb": "AKAP10", "gene_names_refseq": "AKAP-10; AKAP10; D-AKAP-2; D-AKAP2; PRKA10", "protein_names_uniprotkb": "A-kinase anchor protein 10, mitochondrial; AKAP-10; D-AKAP-2; Dual specificity A kinase-anchoring protein 2; PRKA10; Protein kinase A-anchoring protein 10", "protein_names_refseq": "A kinase (PRKA) anchor protein 10; A-kinase anchor protein 10, mitochondrial isoform 1 precursor; A-kinase anchor protein 10, mitochondrial; dual specificity A kinase-anchoring protein 2; mitochondrial A kinase PPKA anchor protein 10; protein kinase A anchoring protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:11216); (R-HSA-983231)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10.1101/2023.09.13.557529;11042108;11062261;11237011;11242053;11248059;11744692;11751636;11895428;11950885;12032298;12134158;12427746;15020713;15247287;15710388;16054028;1630448;16956908;17027967;17196961;17485678;18669648;18691976;19209010;19293402;19496216;20112406;20530532;20627800;218813;22544926;23186163;23468363;23481700;24715725;25576301;25645385;25892735;26154972;26845023;26992070;27600516;27862975;28218747;28228285;28553927;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30784271;31844290;32157095;32502341;32938616;32983136;33123756;33141586;33298915;33912179;33968037;33981976;34087483;3409321;34171305;34211107;34357683;34405274;35051231;35561310;35580925;36010968;36241641;36284347;37938771;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9927674", "class_list": "", "function": "Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Here, using zebrafish, murine, and human models, the authors show that erythropoietin (EPO) signaling, together with the GATA1 transcriptional target, AKAP10, regulates heme biosynthesis during erythropoiesis at the outer mitochondrial membrane. Publication Status: Online-Only, [RefSeq, PubMed]; The AKAP10 Val allele predicted greater resting heart rate and heart rate variability GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 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, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R650;Q96AJ7", "ec_number_list": [], "go_molecular_function": "GO:0051018 protein kinase A binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032991 protein-containing complex;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O43572-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6Q5-1", "uniprot_id": [ { "id": "AP1M2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6Q5", "type": "external" } ], "mass": 48108.0, "length": 423, "protein_name": "AP-1 complex subunit mu-2", "gene_name": "AP1M2", "organism": "Human", "refseq_name": "AP-1 complex subunit mu-2 isoform 1", "refseq_ac": [ { "id": "NP_001287816", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287816", "type": "external" } ], "gene_names_uniprotkb": "AP1M2", "gene_names_refseq": "AP1-mu2; AP1M2; HSMU1B; MU-1B; MU1B; mu2", "protein_names_uniprotkb": "AP-1 complex subunit mu-2; AP-mu chain family member mu1B; Adaptor protein complex AP-1 subunit mu-2; Adaptor-related protein complex 1 subunit mu-2; Clathrin assembly protein complex 1 mu-2 medium chain 2; Golgi adaptor HA1/AP1 adaptin mu-2 subunit; Mu-adaptin 2; Mu1B-adaptin", "protein_names_refseq": "AP-1 complex subunit mu-2 isoform 1; AP-mu chain family member mu1B; HA1 47 kDa subunit 2; adaptor protein complex AP-1 mu-2 subunit; adaptor related protein complex 1 mu 2 subunit; clathrin assembly protein complex 1 mu-2 medium chain 2; clathrin coat assembly protein AP47 2; clathrin coat associated protein AP47 2; clathrin-associated adaptor medium chain mu2; golgi adaptor AP-1 47 kDa protein; golgi adaptor HA1/AP1 adaptin mu-2 subunit; mu-adaptin 2; mu1B-adaptin", "tax_id": 9606, "disease": "", "pathway": " (hsa:10053); (R-HSA-164940); (R-HSA-2132295); (R-HSA-432720); (R-HSA-432722)", "pathway_count": 5, "publication_count": 124, "publication_id_list": "10036229;10064083;10072072;10338135;10394364;10436028;10480952;10540230;10593899;10631941;10631952;10639150;10748235;10809954;11139587;11237011;11333915;11529500;11590181;11604418;11684289;11694590;11790530;11813165;11853874;11994746;12078484;12198549;12742663;12748383;14731593;15102850;15569716;15749704;15911768;16155256;16181339;16242130;16618111;16824007;16867982;17116749;17142755;17283181;18046453;18292509;19559397;1956401;19564404;19651769;20230749;20708039;21048031;21116285;2121367;21441454;21620353;2190094;22645359;2391366;25576301;26154972;26908601;27452731;27600516;28218747;28228285;28514659;28832583;28834231;28855257;29242379;29331515;29557506;29786170;29789417;30315122;30410026;30779550;31092671;31217245;31222486;31844290;31848261;32157095;32161166;32759789;33633747;33936100;33981976;34171305;35580925;36241641;36284347;38253038;7481823;7592972;7650016;7667286;8046351;8134367;8145819;8148318;8313912;8374173;8397411;8415765;8524399;8642258;8670264;8687433;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180;9733768", "class_list": "", "function": "Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules., [UniProtKB, UniProtKB, UniProtKB]; The MUDENG Augmentation: A Genesis in Anti-Cancer Therapy? Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]; Variants in AP1M2 gene is associated with thrombosis., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RDV5;Q9BSI8", "ec_number_list": [], "go_molecular_function": "GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0032588 trans-Golgi network membrane;GO:0005765 lysosomal membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006605 protein targeting;GO:0016192 vesicle-mediated transport;GO:0006903 vesicle targeting;GO:0006896 Golgi to vacuole transport", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q9Y6Q5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07900-1", "uniprot_id": [ { "id": "HS90A_HUMAN", "url": "https://www.uniprot.org/uniprot/P07900", "type": "external" } ], "mass": 84660.0, "length": 732, "protein_name": "Heat shock protein HSP 90-alpha", "gene_name": "HSP90AA1", "organism": "Human", "refseq_name": "heat shock protein HSP 90-alpha isoform 1", "refseq_ac": [ { "id": "NP_001017963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017963", "type": "external" } ], "gene_names_uniprotkb": "HSP90AA1; HSP90A; HSPC1; HSPCA", "gene_names_refseq": "EL52; HEL-S-65p; HSP86; HSP89A; HSP90AA1; HSP90A; HSP90N; HSPC1; HSPCAL1; HSPCAL4; HSPCA; HSPN; Hsp103; Hsp89; Hsp90; LAP-2; LAP2", "protein_names_uniprotkb": "Heat shock protein HSP 90-alpha; 3.6.4.10; HSP 86; HSP86; Heat shock 86 kDa; Heat shock protein family C member 1; LAP-2; LPS-associated protein 2; Lipopolysaccharide-associated protein 2; Renal carcinoma antigen NY-REN-38", "protein_names_refseq": "HSP 86; LPS-associated protein 2; epididymis luminal secretory protein 52; epididymis secretory sperm binding protein Li 65p; heat shock 86 kDa; heat shock 90kD protein 1, alpha-like 4; heat shock 90kD protein 1, alpha; heat shock 90kD protein, alpha-like 4; heat shock 90kDa protein 1, alpha; heat shock protein 90kDa alpha (cytosolic), class A member 1; heat shock protein 90kDa alpha family class A member 1; heat shock protein HSP 90-alpha isoform 1; heat shock protein HSP 90-alpha; heat shock protein family C member 1; lipopolysaccharide-associated protein 2; renal carcinoma antigen NY-REN-38", "tax_id": 9606, "disease": "withdrawal disorder (Disease Ontology:DOID:0060001); traumatic brain injury (Disease Ontology:DOID:0081292); Alzheimer's disease (Disease Ontology:DOID:10652); portal hypertension (Disease Ontology:DOID:10762); varicocele (Disease Ontology:DOID:12337); cancer (Disease Ontology:DOID:162); colon cancer (Disease Ontology:DOID:219); pulmonary fibrosis (Disease Ontology:DOID:3770); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:3320); (R-HSA-1227986); (R-HSA-1236382); (R-HSA-1474151); (R-HSA-168928); (R-HSA-192905); (R-HSA-2029482); (R-HSA-203615); (R-HSA-2565942); (R-HSA-3000484); (R-HSA-3371497); (R-HSA-3371511); (R-HSA-3371568); (R-HSA-3371571); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-399954); (R-HSA-4420097); (R-HSA-5218920); (R-HSA-5336415); (R-HSA-5601884); (R-HSA-5620912); (R-HSA-5637810); (R-HSA-5675482); (R-HSA-6785807); (R-HSA-6798695); (R-HSA-8852276); (R-HSA-8854518); (R-HSA-8863795); (R-HSA-8939211); (R-HSA-9009391); (R-HSA-9013418); (R-HSA-9018519); (R-HSA-9613829); (R-HSA-9634285); (R-HSA-9646399); (R-HSA-9652282); (R-HSA-9664565); (R-HSA-9665233); (R-HSA-9665244); (R-HSA-9665245); (R-HSA-9665246); (R-HSA-9665247); (R-HSA-9665249); (R-HSA-9665250); (R-HSA-9665251); (R-HSA-9665348); (R-HSA-9665686); (R-HSA-9665737); (R-HSA-9679191); (R-HSA-9705671); (R-HSA-9820962); (R-HSA-9834752); (R-HSA-9920588)", "pathway_count": 56, "publication_count": 1131, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Seems to interfere with N.meningitidis NadA-mediated invasion of human cells. Decreasing HSP90 levels increases adhesion and entry of E.coli expressing NadA into human Chang cells; increasing its levels leads to decreased adhesion and invasion., [UniProtKB, PubMed]; HSP90 Inhibition Attenuated Isoflurane-Induced Neurotoxicity in Mice and Human Neuroglioma Cells., [RefSeq, PubMed]; Heat Shock Protein 90 in Parkinson's Disease: Profile of a Serial Killer. Review article, [RefSeq, PubMed]; Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity which is essential for its chaperone activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function (PubMed:11274138, PubMed:12526792, PubMed:15577939, PubMed:15937123, PubMed:27353360, PubMed:29127155). Engages with a range of client protein classes via its interaction with various co-chaperone proteins or complexes, that act as adapters, simultaneously able to interact with the specific client and the central chaperone itself (PubMed:29127155). Recruitment of ATP and co-chaperone followed by client protein forms a functional chaperone. After the completion of the chaperoning process, properly folded client protein and co-chaperone leave HSP90 in an ADP-bound partially open conformation and finally, ADP is released from HSP90 which acquires an open conformation for the next cycle (PubMed:26991466, PubMed:27295069). Plays a critical role in mitochondrial import, delivers preproteins to the mitochondrial import receptor TOMM70 (PubMed:12526792). Apart from its chaperone activity, it also plays a role in the regulation of the transcription machinery. HSP90 and its co-chaperones modulate transcription at least at three different levels (PubMed:25973397). In the first place, they alter the steady-state levels of certain transcription factors in response to various physiological cues (PubMed:25973397). Second, they modulate the activity of certain epigenetic modifiers, such as histone deacetylases or DNA methyl transferases, and thereby respond to the change in the environment (PubMed:25973397). Third, they participate in the eviction of histones from the promoter region of certain genes and thereby turn on gene expression (PubMed:25973397). Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). Antagonizes STUB1-mediated inhibition of TGF-beta signaling via inhibition of STUB1-mediated SMAD3 ubiquitination and degradation (PubMed:24613385). Mediates the association of TOMM70 with IRF3 or TBK1 in mitochondrial outer membrane which promotes host antiviral response (PubMed:20628368, PubMed:25609812)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NudCL2 is required for cytokinesis by stabilizing RCC2 with Hsp90 at the midbody., [RefSeq, PubMed]; The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]; Updates on Abeta Processing by Hsp90, BRICHOS, and Newly Reported Distinctive Chaperones. 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"https://www.ncbi.nlm.nih.gov/protein/NP_001189162", "type": "external" } ], "gene_names_uniprotkb": "NR4A1; GFRP1; HMR; NAK1", "gene_names_refseq": "GFRP1; HMR; N10; NAK-1; NGFIB; NP10; NR4A1; NUR77; TR3", "protein_names_uniprotkb": "Nuclear receptor subfamily 4immunitygroup A member 1; Early response protein NAK1; Nuclear hormone receptor NUR/77; Nur77; Orphan nuclear receptor HMR; Orphan nuclear receptor TR3; ST-59; Testicular receptor 3", "protein_names_refseq": "ST-59; TR3 orphan receptor; early response protein NAK1; growth factor-inducible nuclear protein N10; hormone receptor; nuclear hormone receptor NUR/77; nuclear receptor subfamily 4immunitygroup A member 1 isoform 2; nuclear receptor subfamily 4immunitygroup A member 1; orphan nuclear receptor HMR; orphan nuclear receptor TR3; steroid receptor TR3; testicular receptor 3", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); mesangial proliferative glomerulonephritis (Disease Ontology:DOID:4783); chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:3164); (R-HSA-198693); (R-HSA-383280); (R-HSA-5674400)", "pathway_count": 4, "publication_count": 96, "publication_id_list": "10102273;10235266;10358075;10485710;10490848;10542397;11237011;11274386;11715018;11865025;11883936;12150915;12172553;12244303;12524439;12668767;12767043;12857750;14525795;14617782;15169778;15175151;15459248;15466594;15509776;15527798;15896744;15987244;16223362;16272144;16434970;1651101;16751179;17023523;17360704;17611497;17761950;18256540;18669648;18690216;18691976;18954143;19644473;20438716;20440266;20489726;22025163;22427340;22789442;2283997;22983157;23481700;25576301;26155943;2626032;26992070;27600516;27862975;28218747;28633895;29242379;29437277;29485866;29493099;30410026;30833945;31222486;31844290;32157095;32161166;32387766;32488085;33141586;33235235;33298915;33592498;33912179;33968037;34171305;35051231;36241641;37001519;38229336;38301909;38310251;38605605;38791553;8121493;8227042;9315652;9381178;9478990;9653119;9812896;9829964;9895304", "class_list": "", "function": "Hyperinsulinemia impairs decidualization via AKT-NR4A1 signaling: new insight into polycystic ovary syndrome (PCOS)-related infertility. Publication Status: Online-Only, [RefSeq, PubMed]; In the cytosol, upon its detection of both bacterial lipopolysaccharide (LPS) and NBRE-containing mitochondrial DNA released by GSDMD pores during pyroptosis, it promotes non-canonical NLRP3 inflammasome activation by stimulating association of NLRP3 and NEK7., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; NR4A1 depletion inhibits colorectal cancer progression by promoting necroptosis via the RIG-I-like receptor pathway., [RefSeq, PubMed]; Orphan nuclear receptor. Binds the NGFI-B response element (NBRE) 5'-AAAGGTCA-3' (PubMed:18690216, PubMed:8121493, PubMed:9315652). Binds 9-cis-retinoic acid outside of its ligand-binding (NR LBD) domain (PubMed:18690216). Participates in energy homeostasis by sequestrating the kinase STK11 in the nucleus, thereby attenuating cytoplasmic AMPK activation (PubMed:22983157). Regulates the inflammatory response in macrophages by regulating metabolic adaptations during inflammation, including repressing the transcription of genes involved in the citric acid cycle (TCA) (By similarity). Inhibits NF-kappa-B signaling by binding to low-affinity NF-kappa-B binding sites, such as at the IL2 promoter (PubMed:15466594). May act concomitantly with NR4A2 in regulating the expression of delayed-early genes during liver regeneration (By similarity). Plays a role in the vascular response to injury (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Orphan nuclear receptor. Binds the NGFI-B response element (NBRE) 5'-AAAGGTCA-3'. Binds 9-cis-retinoic acid outside of its ligand-binding (NR LBD) domain. Participates in energy homeostasis by sequestrating the kinase STK11 in the nucleus, thereby attenuating cytoplasmic AMPK activation. Regulates the inflammatory response in macrophages by regulating metabolic adaptations during inflammation, including repressing the transcription of genes involved in the citric acid cycle (TCA). Inhibits NF-kappa-B signaling by binding to low-affinity NF-kappa-B binding sites, such as at the IL2 promoter. May act concomitantly with NR4A2 in regulating the expression of delayed-early genes during liver regeneration. Plays a role in the vascular response to injury., [UniProtKB, UniProtKB]; Progressive reduction of nuclear receptor Nr4a1 mediates age-dependent cognitive decline., [RefSeq, PubMed]; SOCS3, Transcriptionally Activated by NR4A1, Induces Apoptosis and Extracellular Matrix Degradation of Vaginal Fibroblasts in Pelvic Organ Prolapse., [RefSeq, PubMed]; The Long Non-Coding RNA MALAT1 Modulates NR4A1 Expression through a Downstream Regulatory Element in Specific Cancer Cell Types. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 1, "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": 1, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DML7;Q15627;Q53Y00;Q6IBU8", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0035259 nuclear glucocorticoid receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P22736-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000101001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P79522-1", "uniprot_id": [ { "id": "PRR3_HUMAN", "url": "https://www.uniprot.org/uniprot/P79522", "type": "external" } ], "mass": 20640.0, "length": 188, "protein_name": "Proline-rich protein 3", "gene_name": "PRR3", "organism": "Human", "refseq_name": "proline-rich protein 3 isoform a", "refseq_ac": [ { "id": "NP_079539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079539", "type": "external" } ], "gene_names_uniprotkb": "PRR3; CAT56", "gene_names_refseq": "CAT56; PRR3", "protein_names_uniprotkb": "Proline-rich protein 3; MHC class I region proline-rich protein CAT56", "protein_names_refseq": "MHC class I region proline-rich protein CAT56; proline-rich polypeptide 3; proline-rich protein 3 isoform a; proline-rich protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:80742)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "19851445;19912639;20068231;29242379;33298915;33912179;34171305;40473212", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, 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": 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": 1, "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": "A1A4H4;Q5RJB5;Q5STN6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0004864 protein phosphatase inhibitor activity;GO:0140767 enzyme-substrate adaptor activity", "go_cellular_component": "GO:0000785 chromatin;GO:0072357 PTW/PP1 phosphatase complex", "go_biological_process": "GO:2000806 positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P79522-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63165-1", "uniprot_id": [ { "id": "SUMO1_HUMAN", "url": "https://www.uniprot.org/uniprot/P63165", "type": "external" } ], "mass": 11557.0, "length": 101, "protein_name": "Small ubiquitin-related modifier 1", "gene_name": "SUMO1", "organism": "Human", "refseq_name": "small ubiquitin-related modifier 1 isoform a precursor", "refseq_ac": [ { "id": "NP_001005781", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005781", "type": "external" } ], "gene_names_uniprotkb": "SUMO1; SMT3C; SMT3H3; SW-cl.43; UBL1", "gene_names_refseq": "DAP1; GMP1; OFC10; PIC1; SMT3C; SMT3H3; SMT3; SUMO1; UBL1", "protein_names_uniprotkb": "Small ubiquitin-related modifier 1; GAP-modifying protein 1; GMP1; SMT3 homolog 3; SUMO-1; Sentrin; Smt3C; Ubiquitin-homology domain protein PIC1; Ubiquitin-like protein SMT3C; Ubiquitin-like protein UBL1", "protein_names_refseq": "GAP modifying protein 1; SMT3 homolog 3; SMT3 suppressor of mif two 3 homolog 1; sentrin; small ubiquitin-related modifier 1 isoform a precursor; ubiquitin-homology domain protein PIC1; ubiquitin-like protein SMT3C; ubiquitin-like protein UBL1", "tax_id": 9606, "disease": "orofacial cleft 10 (Disease Ontology:DOID:0080403); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:7341); (R-HSA-3065676); (R-HSA-3065678); (R-HSA-3065679); (R-HSA-3108214); (R-HSA-3232118); (R-HSA-3232142); (R-HSA-3899300); (R-HSA-4085377); (R-HSA-4090294); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-4655427); (R-HSA-4755510); (R-HSA-5693565); (R-HSA-5696395); (R-HSA-877312); (R-HSA-8866904); (R-HSA-9615933); (R-HSA-9683610); (R-HSA-9694631); (R-HSA-9793242); (R-HSA-9833482); (R-HSA-9856649); (R-HSA-9918432); (R-HSA-9937850)", "pathway_count": 27, "publication_count": 661, "publication_id_list": 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"class_list": "", "function": "Interplay between SUMO1-related SUMOylation and phosphorylation of p65 promotes hepatocellular carcinoma progression., [RefSeq, PubMed]; SENP1 inhibits ferroptosis and promotes head and neck squamous cell carcinoma by regulating ACSL4 protein stability via SUMO1., [RefSeq, PubMed]; SUMO1-regulated DBC1 promotes p53-dependent stress-induced apoptosis of lens epithelial cells., [RefSeq, PubMed]; This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4, RANBP2 or CBX4. This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Involved for instance in targeting RANGAP1 to the nuclear pore complex protein RANBP2. Covalently attached to the voltage-gated potassium channel KCNB1; this modulates the gating characteristics of KCNB1 (PubMed:19223394). Polymeric SUMO1 chains are also susceptible to polyubiquitination which functions as a signal for proteasomal degradation of modified proteins. May also regulate a network of genes involved in palate development. Covalently attached to ZFHX3 (PubMed:24651376)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "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": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MUS8;B2R4I5;P55856;Q6FGG0;Q6NZ62;Q93068", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019899 enzyme binding;GO:0015459 potassium channel regulator activity;GO:0031625 ubiquitin protein ligase binding;GO:1990381 ubiquitin-specific protease binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0097165 nuclear stress granule;GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006281 DNA repair;GO:0016925 protein sumoylation;GO:0034605 cellular response to heat;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 66.6, "record_id": "P63165-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00459-1", "uniprot_id": [ { "id": "P85B_HUMAN", "url": "https://www.uniprot.org/uniprot/O00459", "type": "external" } ], "mass": 81545.0, "length": 728, "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit beta", "gene_name": "PIK3R2", "organism": "Human", "refseq_name": "phosphatidylinositol 3-kinase regulatory subunit beta", "refseq_ac": [ { "id": "NP_005018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018", "type": "external" } ], "gene_names_uniprotkb": "PIK3R2", "gene_names_refseq": "MPPH1; MPPH; P85B; PIK3R2; p85-BETA; p85beta; p85", "protein_names_uniprotkb": "Phosphatidylinositol 3-kinase regulatory subunit beta; PI3-kinase regulatory subunit beta; PI3-kinase subunit p85-beta; PI3K regulatory subunit beta; Phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta; PtdIns-3-kinase regulatory subunit beta; PtdIns-3-kinase regulatory subunit p85-beta", "protein_names_refseq": "PI3-kinase subunit p85-beta; PI3K regulatory subunit beta; phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta; phosphatidylinositol 3-kinase regulatory subunit beta; phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2 (p85 beta); phosphoinositide-3-kinase regulatory subunit beta; phosphoinositide-3-kinase, regulatory subunit 2 (beta); ptdIns-3-kinase regulatory subunit p85-beta", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); colon cancer (Disease Ontology:DOID:219); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); hepatocellular carcinoma (Disease Ontology:DOID:684); megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MONDO:MONDO:0011313)", "pathway": " (hsa:5296); (R-HSA-109704); (R-HSA-112399); (R-HSA-114604); (R-HSA-1257604); (R-HSA-1266695); (R-HSA-1433557); (R-HSA-1660499); (R-HSA-186763); (R-HSA-198203); (R-HSA-201556); (R-HSA-202424); (R-HSA-2029485); (R-HSA-210993); (R-HSA-2219530); (R-HSA-2424491); (R-HSA-2730905); (R-HSA-373753); (R-HSA-389357); (R-HSA-416476); (R-HSA-4420097); (R-HSA-512988); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-8853659); (R-HSA-8980692); (R-HSA-9009391); (R-HSA-9013026); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013409); (R-HSA-9013420); (R-HSA-9013423); (R-HSA-9035034); (R-HSA-912526); (R-HSA-912631); (R-HSA-9670439); (R-HSA-9673767); (R-HSA-9673770); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273); (R-HSA-9725370); (R-HSA-9842640); (R-HSA-9842663); (R-HSA-9856530); (R-HSA-9927354)", "pathway_count": 49, "publication_count": 1317, "publication_id_list": 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"class_list": "", "function": "FAK-mediated phosphorylation at Y464 regulates p85beta nuclear translocation to promote tumorigenesis of ccRCC by repressing RB1 expression., [RefSeq, PubMed]; LncRNA HOTAIR regulates the PI3K/AKT pathway via the miR-126-3p/PIK3R2 axis to participate in synovial angiogenesis in rheumatoid arthritis., [RefSeq, PubMed]; NSUN2 promotes lung adenocarcinoma progression through stabilizing PIK3R2 mRNA in an m[5]C-dependent manner., [RefSeq, PubMed]; Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]., [RefSeq]; Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Indirectly regulates autophagy (PubMed:23604317). Promotes nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (By similarity)., [UniProtKB, PubMed, UniProtKB]; This paper reports the first purification of a phosphoinositide 3-kinase and shows that the protein is a heterodimer of an 85 kd regulatory subunit that mediates binding to phosphorylated proteins and a 110 kd catalytic subunit., [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": 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": 11, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5EAT5;Q9UPH9", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0005096 GTPase activator activity;GO:0046982 protein heterodimerization activity;GO:0030971 receptor tyrosine kinase binding;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0005943 phosphatidylinositol 3-kinase complex, class IA", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0006955 immune response;GO:0010506 regulation of autophagy;GO:0015031 protein transport;GO:0032869 cellular response to insulin stimulus", "synthesized_glycan_count": 0, "hit_score": 131.8, "record_id": "O00459-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2U9-1", "uniprot_id": [ { "id": "ADAM7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2U9", "type": "external" } ], "mass": 85669.0, "length": 754, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 7", "gene_name": "ADAM7", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 7 preproprotein", "refseq_ac": [ { "id": "NP_003808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003808", "type": "external" } ], "gene_names_uniprotkb": "ADAM7; GP83", "gene_names_refseq": "ADAM 7; ADAM-7; ADAM7; EAPI; GP-83; GP83", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 7; ADAM 7; Sperm maturation-related glycoprotein GP-83", "protein_names_refseq": "a disintegrin and metalloproteinase domain 7; disintegrin and metalloproteinase domain-containing protein 7 preproprotein; disintegrin and metalloproteinase domain-containing protein 7; epididymal apical protein I; epididymis secretory sperm binding protein; sperm maturation-related glycoprotein GP-83", "tax_id": 9606, "disease": "", "pathway": " (hsa:8756)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;21618342;34116022", "class_list": "", "function": "ADAM7 promotes the proliferation and invasion in trophoblast cells., [RefSeq, PubMed]; Mutated ADAM27 and ADAM7 genes could play a role in melanoma progression., [RefSeq, PubMed]; Required for normal male fertility via maintenance of epithelial cell morphology in the caput epididymis and subsequently correct epididymis lumen structure required for sperm development (By similarity). Plays a role in sperm motility, flagella morphology and tyrosine phosphorylation during sperm capacitance (By similarity). Plays a role in normal expression levels of HSPA5, ITM2B and ADAM2 in sperm both prior to and post-capacitation (By similarity). This is a non catalytic metalloprotease-like protein (By similarity)., [UniProtKB, UniProtKB]; This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "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": 53, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K8X7;O75959;Q6PEJ6", "ec_number_list": [], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0003382 epithelial cell morphogenesis;GO:1902093 positive regulation of flagellated sperm motility;GO:1905867 epididymis development;GO:1902492 positive regulation of sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9H2U9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41182-1", "uniprot_id": [ { "id": "BCL6_HUMAN", "url": "https://www.uniprot.org/uniprot/P41182", "type": "external" } ], "mass": 78846.0, "length": 706, "protein_name": "B-cell lymphoma 6 protein", "gene_name": "BCL6", "organism": "Human", "refseq_name": "B-cell lymphoma 6 protein isoform 1", "refseq_ac": [ { "id": "NP_001124317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124317", "type": "external" } ], "gene_names_uniprotkb": "BCL6; BCL5; LAZ3; ZBTB27; ZNF51", "gene_names_refseq": "BCL5; BCL6A; BCL6; LAZ3; ZBTB27; ZNF51", "protein_names_uniprotkb": "B-cell lymphoma 6 protein; B-cell lymphoma 5 protein; BCL-5; BCL-6; Protein LAZ-3; Zinc finger and BTB domain-containing protein 27; Zinc finger protein 51", "protein_names_refseq": "B cell CLL/lymphoma 6; B-cell lymphoma 5 protein; B-cell lymphoma 6 protein isoform 1; B-cell lymphoma 6 protein transcript; BCL-5; BCL-6; cys-his2 zinc finger transcription factor; lymphoma-associated zinc finger gene on chromosome 3; protein LAZ-3; zinc finger and BTB domain-containing protein 27; zinc finger protein 51; zinc finger transcription factor BCL6S", "tax_id": 9606, "disease": "diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); B-cell lymphoma (Disease Ontology:DOID:707)", "pathway": " (hsa:604); (R-HSA-6785807); (R-HSA-6803205); (R-HSA-9614657)", "pathway_count": 4, "publication_count": 190, "publication_id_list": "10023775;10102273;10219247;10369418;10469447;10510379;10586089;10733530;10753856;10867011;10981963;11054413;11058569;11084045;11104795;11120780;11237011;11278437;11278729;11356008;11404481;11463377;11675392;11684014;11714700;11777915;11821949;11919562;11960372;12223527;12242343;12402037;12414651;12504096;12590135;12600988;12832402;1321151;14576824;14614825;14634100;14690607;14701673;14712222;14729977;15116091;15261459;15377670;15454082;15509806;15577913;15584925;15797384;15805299;15837622;15869882;15950906;15958553;16007214;16048438;16107692;16140933;16142238;16205632;16236134;16249378;16397018;16451196;16455075;16510571;16540365;16606674;16943287;17427945;17442733;17458857;17572495;17828269;18158893;18212045;18243101;18280243;18353781;18447642;18452278;18532927;18644974;19040420;19052359;19124156;19185846;19349281;19397496;19549844;20385364;20493732;20978166;21102457;21252155;21689689;21730069;21937440;21994466;22046235;22113614;22205702;22383755;22412893;22693070;22851691;23059823;23086340;23124025;23166356;23172665;23182941;23186163;23455323;23555662;23671130;23707940;23911289;23967200;24097101;24260043;24743777;25234944;25576301;25645385;26715362;26992070;27561725;28121444;29393594;29533771;29557506;30190310;30429286;31154438;31844290;31848261;32157095;32387766;32488085;32502341;32938616;32983136;33141586;33392160;33592498;33691108;33968037;34087483;34509645;35051231;35561310;35580925;36241641;37897298;37950867;38196006;38442093;38761804;39456751;7510216;7512451;7529288;7795521;7796300;7898939;7907877;7991565;8085155;8220427;8235596;8274740;8506375;8602263;8621622;8663118;8668165;8797861;8816495;9013879;9649500;9651359;9723655;9736340;9822675;9874564", "class_list": "", "function": "Alternative genetic alterations of MYC, BCL2, and/or BCL6 in high-grade B-cell lymphoma (HGBL) and diffuse large B-cell lymphoma (DLBCL): Can we identify different prognostic subgroups?, [RefSeq, PubMed]; B Cell Lymphoma 6 (BCL6): A Conserved Regulator of Immunity and Beyond. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Bcl6 is a subset-defining transcription factor of lymphoid tissue inducer-like ILC3., [RefSeq, PubMed]; Deficiency of CBL and CBLB ubiquitin ligases leads to hyper T follicular helper cell responses and lupus by reducing BCL6 degradation., [RefSeq, PubMed]; Delineating the mechanism of fragility at BCL6 breakpoint region associated with translocations in diffuse large B cell lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015]., [RefSeq]; Transcriptional repressor mainly required for germinal center (GC) formation and antibody affinity maturation which has different mechanisms of action specific to the lineage and biological functions. Forms complexes with different corepressors and histone deacetylases to repress the transcriptional expression of different subsets of target genes. Represses its target genes by binding directly to the DNA sequence 5'-TTCCTAGAA-3' (BCL6-binding site) or indirectly by repressing the transcriptional activity of transcription factors. In GC B-cells, represses genes that function in differentiation, inflammation, apoptosis and cell cycle control, also autoregulates its transcriptional expression and up-regulates, indirectly, the expression of some genes important for GC reactions, such as AICDA, through the repression of microRNAs expression, like miR155. An important function is to allow GC B-cells to proliferate very rapidly in response to T-cell dependent antigens and tolerate the physiological DNA breaks required for immunoglobulin class switch recombination and somatic hypermutation without inducing a p53/TP53-dependent apoptotic response. In follicular helper CD4(+) T-cells (T(FH) cells), promotes the expression of T(FH)-related genes but inhibits the differentiation of T(H)1, T(H)2 and T(H)17 cells. Also required for the establishment and maintenance of immunological memory for both T- and B-cells. Suppresses macrophage proliferation through competition with STAT5 for STAT-binding motifs binding on certain target genes, such as CCL2 and CCND2. In response to genotoxic stress, controls cell cycle arrest in GC B-cells in both p53/TP53-dependedent and -independent manners. Besides, also controls neurogenesis through the alteration of the composition of NOTCH-dependent transcriptional complexes at selective NOTCH targets, such as HES5, including the recruitment of the deacetylase SIRT1 and resulting in an epigenetic silencing leading to neuronal differentiation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 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": 9, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7E241;B8PSA7;D3DNV5", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0042382 paraspeckles", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006954 inflammatory response;GO:0042127 regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "P41182-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CW1-1", "uniprot_id": [ { "id": "AP2M1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CW1", "type": "external" } ], "mass": 49655.0, "length": 435, "protein_name": "AP-2 complex subunit mu", "gene_name": "AP2M1", "organism": "Human", "refseq_name": "AP-2 complex subunit mu isoform b", "refseq_ac": [ { "id": "NP_001020376", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020376", "type": "external" } ], "gene_names_uniprotkb": "AP2M1; CLAPM1; KIAA0109", "gene_names_refseq": "AP2M1; AP50; CLAPM1; MRD60; mu2", "protein_names_uniprotkb": "AP-2 complex subunit mu; AP-2 mu chain; Adaptin-mu2; Adaptor protein complex AP-2 subunit mu; Adaptor-related protein complex 2 subunit mu; Clathrin assembly protein complex 2 mu medium chain; Clathrin coat assembly protein AP50; Clathrin coat-associated protein AP50; HA2 50 kDa subunit; Plasma membrane adaptor AP-2 50 kDa protein", "protein_names_refseq": "AP-2 complex subunit mu isoform b; AP-2 complex subunit mu; AP-2 mu 2 chain; HA2 50 kDA subunit; adaptin-mu2; adaptor protein complex AP-2 subunit mu; adaptor related protein complex 2 mu 1 subunit; adaptor-related protein complex 2 subunit mu; clathrin adaptor complex AP2, mu subunit; clathrin assembly protein complex 2 medium chain; clathrin assembly protein complex 2 mu medium chain; clathrin coat adaptor protein AP50; clathrin coat assembly protein AP50; clathrin coat-associated protein AP50; clathrin-associated/assembly/adaptor protein, medium 1; plasma membrane adaptor AP-2 50 kDa protein; plasma membrane adaptor AP-2 50kDA protein", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 60 with seizures (Disease Ontology:DOID:0061050); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1173); (R-HSA-164939); (R-HSA-167590); (R-HSA-177504); (R-HSA-182218); (R-HSA-190873); (R-HSA-196025); (R-HSA-2132295); (R-HSA-3928665); (R-HSA-437239); (R-HSA-5099900); (R-HSA-5140745); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8866427); (R-HSA-8964038); (R-HSA-9679191); (R-HSA-9918485)", "pathway_count": 18, "publication_count": 483, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10064083;10072072;10087012;10097102;10224102;10436022;10438503;10480952;10535736;10540230;10542231;10559856;10559861;10559924;10567358;10593899;10608864;10613896;10625686;10631941;10631952;10639150;10747093;10748235;10766823;10769163;10804209;10809954;10818153;10910768;10983987;11071885;11076969;11082044;11157096;11231140;11237011;11239472;11247302;11285224;11337487;11448999;11454741;11470803;11516654;11517213;11529500;11532990;11577110;11583591;11584272;11588219;11684289;11790530;11813165;11853874;11877457;11877461;11889126;11919637;11927540;11988742;12032142;12057195;12078484;12082080;12086608;12198549;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12464675;12682107;12694563;12717448;12742663;12748383;12847086;12942088;12944396;12952941;12952949;12958364;12973357;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;14731593;14745134;14985334;15098107;15134832;15166224;15202998;15252009;15260957;15265030;15318165;15339664;15351694;1535555;15473838;15502812;15502813;15507651;15649145;15671180;15703209;15728179;15749704;15802264;15838506;15848800;15895077;15911768;15916959;16103193;16103228;16115318;16159959;16179341;16181339;16215232;16242130;16326391;16330023;16410077;16459302;16460808;16511561;16516836;16522641;16581796;16618111;16707488;16723738;16798879;16824007;16880396;16903783;17018281;17018531;17035995;17108328;17117926;17142755;17158794;1718995;17199046;17267500;17283181;17360967;17428795;17452316;17456551;17494869;17512409;17522231;17540576;17609109;17643423;17662961;17681954;17713526;17762867;17765681;17978091;18032517;18039658;18046453;18093523;18166656;18199683;18266465;18292509;18388313;18478542;1847920;18644789;18691976;18713744;18767875;18772377;18775314;18782767;18790740;18819912;18981233;19033387;19092055;19140243;19141679;19196236;19278660;19287005;19296720;19419997;19458185;19520913;19536138;19563754;1956401;19564404;19575674;19582886;19592704;19603039;19664994;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;19910923;20033059;20058876;20059951;20112406;2014052;20211604;20223979;20231386;20351096;20427281;20428113;20448150;20496116;20826345;20946875;20947020;20947831;21102408;21116285;2115402;21187331;2121367;21273557;21278753;21316588;21441454;21445324;21482805;21499258;21613550;21734303;21779028;21841790;21883765;2190094;21927000;21927001;21962517;21995445;22099461;22101459;22118466;221835;22233676;22357968;22401777;22484487;22505844;22510808;22552008;2257624;22645359;22764087;22814904;22815487;22863004;22869377;22916011;22936343;22942912;23084921;23186163;23297414;23481700;23529131;23536704;23641311;23658209;23676497;23783831;23823722;23861397;23891661;2391366;24074594;24130457;24186068;24272870;24275569;24366607;24384571;2448316;24581490;24584101;24680432;24714562;24715725;24746795;24789820;24868095;24966051;25066864;25107275;25303366;25341920;25418920;25576301;25645385;25699256;25801024;25915661;26002965;26042225;26056282;26154972;26212330;26403691;26468529;26474739;26728094;26829388;26992070;2722848;27452731;27543614;27600516;27832191;27846572;27862975;27920218;28063628;28218747;28228285;28425720;28446606;28510447;28514659;28832583;28834231;28904123;2890644;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29610346;29632046;29632711;29742433;29786170;29945920;30201761;30315122;30410026;30524438;30605688;30779550;30833945;31048504;31092671;31104773;31154438;31530632;31720911;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33214551;33592498;33633747;33691108;33717175;33866776;33912179;33936100;33968037;34019948;34087483;34171305;3417785;34357683;34509645;34561969;34725712;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36284347;36335584;36581221;37217939;37938771;38665916;39383236;6146630;7481823;7493978;7569928;7592972;7650016;7667286;7822302;7877694;8046351;8049197;8112342;8134367;8145819;8146180;8148318;8257432;8313912;8397411;8407899;8415765;8524399;8552632;8553074;8642258;8687433;8837779;8849454;8909537;8939989;8947036;9075930;9092476;9100026;9169477;9202021;9303539;9311912;9312039;9427626;9428629;9497313;9539769;9545226;9606180;9635431;9651214;9705237;9721721;9723620;9736607;9756920;9812899;9931503", "class_list": "", "function": "Component of the adaptor protein complex 2 (AP-2) (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis (PubMed:16581796). AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules (By similarity). AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway (PubMed:19033387). During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 mu subunit binds to transmembrane cargo proteins; it recognizes the Y-X-X-Phi motifs (By similarity). The surface region interacting with to the Y-X-X-Phi motif is inaccessible in cytosolic AP-2, but becomes accessible through a conformational change following phosphorylation of AP-2 mu subunit at Thr-156 in membrane-associated AP-2 (PubMed:11877457). The membrane-specific phosphorylation event appears to involve assembled clathrin which activates the AP-2 mu kinase AAK1 (PubMed:11877457). Plays a role in endocytosis of frizzled family members upon Wnt signaling (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules., [UniProtKB, UniProtKB]; High expression of AP2M1 correlates with worse prognosis by regulating immune microenvironment and drug resistance to R-CHOP in diffuse large B cell lymphoma., [RefSeq, PubMed]; SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac., [RefSeq, PubMed]; This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NE12;D3DNT1;P20172;P53679", "ec_number_list": [], "go_molecular_function": "GO:0050750 low-density lipoprotein particle receptor binding;GO:0044325 transmembrane transporter binding;GO:0008289 lipid binding;GO:0005048 signal sequence binding;GO:0097718 disordered domain specific binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0070062 extracellular exosome", "go_biological_process": "GO:0098884 postsynaptic neurotransmitter receptor internalization;GO:1900244 positive regulation of synaptic vesicle endocytosis;GO:0006886 intracellular protein transport;GO:0031623 receptor internalization;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 48.8, "record_id": "Q96CW1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PM5-1", "uniprot_id": [ { "id": "ZN363_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PM5", "type": "external" } ], "mass": 30110.0, "length": 261, "protein_name": "RING finger and CHY zinc finger domain-containing protein 1", "gene_name": "RCHY1", "organism": "Human", "refseq_name": "RING finger and CHY zinc finger domain-containing protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001009922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009922", "type": "external" } ], "gene_names_uniprotkb": "RCHY1; ARNIP; CHIMP; PIRH2; RNF199; ZNF363", "gene_names_refseq": "ARNIP; CHIMP; PIRH2; PRO1996; RCHY1; RNF199; ZCHY; ZNF363", "protein_names_uniprotkb": "RING finger and CHY zinc finger domain-containing protein 1; 2.3.2.27; Androgen receptor N-terminal-interacting protein; CH-rich-interacting match with PLAG1; E3 ubiquitin-protein ligase Pirh2; RING finger protein 199; RING-type E3 ubiquitin transferase RCHY1; Zinc finger protein 363; hPirh2; p53-induced RING-H2 protein", "protein_names_refseq": "CH-rich interacting match with PLAG1; E3 ubiquitin-protein ligase Pirh2; RING finger and CHY zinc finger domain-containing protein 1 isoform 3; RING finger protein 199; RING-type E3 ubiquitin transferase RCHY1; androgen-receptor N-terminal-interacting protein; p53-induced protein with a RING-H2 domain; ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase; zinc finger protein 363; zinc finger, CHY-type", "tax_id": 9606, "disease": "sciatic neuropathy (Disease Ontology:DOID:11446)", "pathway": " (hsa:25898); (R-HSA-110320); (R-HSA-983168); (R-HSA-9954709)", "pathway_count": 4, "publication_count": 91, "publication_id_list": "10801132;10856253;11062501;11237011;11350924;12200228;12646216;12654245;14701804;14734113;15149598;15224091;15224092;15547185;15571818;15781263;16139798;16595681;16849449;16914734;16954532;17568776;17721809;17950244;18006823;18088087;18662542;18669648;19028597;19043414;19352404;19452197;19483087;19489725;19851334;19874575;19940261;20008555;20058876;20159558;20357911;20452352;21791603;21994467;2261476;22681887;22902628;23042605;23042607;23186163;23603988;23685075;24715725;24768535;25132172;25578875;26992070;28218747;28228285;28832583;29242379;29331515;29437277;29493099;29632312;29786170;30244831;30410026;30429286;30524438;31011209;31844290;32157095;32897882;33406423;33909987;33981976;34087483;34090148;34091597;35051231;35561310;35580925;36241641;36251972;36284347;37357506;37676773;37938771;9380723;9668046", "class_list": "", "function": "Cloning and characterization of an androgen receptor N-terminal-interacting protein with ubiquitin-protein ligase activity [androgen-receptor N-terminal-interacting protein; hARNIP], [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination of target proteins, including p53/TP53, TP73, HDAC1 and CDKN1B (PubMed:16914734, PubMed:17721809, PubMed:18006823, PubMed:19043414, PubMed:19483087, PubMed:21994467). Mediates ubiquitination and degradation of p53/TP53; preferentially acts on tetrameric p53/TP53 (PubMed:19043414, PubMed:19483087). Catalyzes monoubiquitinates the translesion DNA polymerase POLH (PubMed:21791603). Involved in the ribosome-associated quality control (RQC) pathway, which mediates the extraction of incompletely synthesized nascent chains from stalled ribosomes: RCHY1 acts downstream of NEMF and recognizes CAT tails associated with stalled nascent chains, leading to their ubiquitination and degradation (PubMed:33909987)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Has no E3 ubiquitin-protein ligase activity., [UniProtKB, PubMed]; Mechanism and evolutionary origins of alanine-tail C-degron recognition by E3 ligases Pirh2 and CRL2-KLHDC10., [RefSeq, PubMed]; P53, Pirh2, and L1CAM as Promising Prognostic Biomarkers of Endometrial Carcinoma: An Immunohistochemical and Genetic Study., [RefSeq, PubMed]; PRPF8 controls alternative splicing of PIRH2 to modulate the p53 pathway and survival of human ESCs., [RefSeq, PubMed]; Regulation of autophagy flux by E3 ubiquitin ligase Pirh2 in lung cancer., [RefSeq, PubMed]; The RNA-binding protein HuR is a novel target of Pirh2 E3 ubiquitin ligase. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus regulating their levels and cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2013]., [RefSeq]; These results are consistent with the hypothesis that increased Pirh2 expression affects lung tumorigenesis by reducing p53 activity., [RefSeq, PubMed]; This protein is a p53-induced ubiquitin-protein ligase which promotes p53 degradation. GeneRIF: Pirh2 (ZNF363), a gene regulated by p53, encodes a RING-H2 domain-containing protein with intrinsic ubiquitin-protein ligase activity. Pirh2 protein physically interacts with p53 and promotes ubiquitination and degradation of p53 independently of Mdm2., [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": 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": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 2, "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": "B3KRG3;C7E541;C7E542;C7E543;D3YRV2;E7EMC8;E7ETW5;J3KPI0;Q2KN33;Q59GN7;Q86X26;Q96PR5", "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": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "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:0042803 protein homodimerization activity;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0002039 p53 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0016567 protein ubiquitination;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q96PM5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RK4-1", "uniprot_id": [ { "id": "BBS4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RK4", "type": "external" } ], "mass": 58282.0, "length": 519, "protein_name": "BBSome complex member BBS4", "gene_name": "BBS4", "organism": "Human", "refseq_name": "BBSome complex member BBS4 isoform 2", "refseq_ac": [ { "id": "NP_001239607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239607", "type": "external" } ], "gene_names_uniprotkb": "BBS4", "gene_names_refseq": "BBS4", "protein_names_uniprotkb": "BBSome complex member BBS4; Bardet-Biedl syndrome 4 protein", "protein_names_refseq": "BBSome complex member BBS4 isoform 2; BBSome complex member BBS4; bardet-Biedl syndrome 4 protein", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); Bardet-Biedl syndrome 4 (Disease Ontology:DOID:0110126); morbid obesity (Disease Ontology:DOID:11981); Bardet-Biedl syndrome (Disease Ontology:DOID:1935); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:585); (R-HSA-5620922)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "11237011;11252952;11381270;12016587;12365916;12677556;12872256;12920096;15107855;15258860;15314642;15497446;15666242;15770229;16327777;17574030;18000879;19081074;19421068;19575670;20080638;20233871;20603001;21344540;21427764;22072986;22139371;22389062;22500027;23351793;23943788;24296415;24715725;24939912;25443296;25446516;25576301;25645385;25892735;26375851;26992070;27397612;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29769354;29786170;29789417;30315122;30429286;30484775;30779550;31154438;31217245;31844290;32157095;32357974;32488085;32938616;33144677;33298915;33392160;33537174;33592498;33912179;33964006;33968037;34171305;34185709;34357683;34932366;35051231;35580925;36010968;36241641;37938771", "class_list": "", "function": "BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Evaluated the spectrum of mutations in the recently identified BBS4 gene with a combination of haplotype analysis and mutation screening., [RefSeq, PubMed]; Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation., [RefSeq, PubMed]; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome., [UniProtKB, PubMed, PubMed, PubMed]; The phenotype of patients with BBS4 mutations consists of severe retinitis pigmentosa, variable obesity, brachydactyly with variable polydactyly, small or missing teeth, genital hypoplasia, and cardiovascular disease., [RefSeq, PubMed]; This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein 'BBSome' complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [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": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4E178;Q53DZ5;Q8NHU9;Q96H45", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0048487 beta-tubulin binding;GO:0043014 alpha-tubulin binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0034452 dynactin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005929 cilium;GO:0031514 motile cilium", "go_biological_process": "GO:0015031 protein transport;GO:0016358 dendrite development;GO:0030534 adult behavior;GO:0019216 regulation of lipid metabolic process;GO:0021766 hippocampus development", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q96RK4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42679-1", "uniprot_id": [ { "id": "MATK_HUMAN", "url": "https://www.uniprot.org/uniprot/P42679", "type": "external" } ], "mass": 56469.0, "length": 507, "protein_name": "Megakaryocyte-associated tyrosine-protein kinase", "gene_name": "MATK", "organism": "Human", "refseq_name": "megakaryocyte-associated tyrosine-protein kinase isoform b", "refseq_ac": [ { "id": "NP_002369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002369", "type": "external" } ], "gene_names_uniprotkb": "MATK; CTK; HYL", "gene_names_refseq": "CHK; CTK; HHYLTK; HYLTK; HYL; Lsk; MATK", "protein_names_uniprotkb": "Megakaryocyte-associated tyrosine-protein kinase; 2.7.10.2; CHK; CSK homologous kinase; Hematopoietic consensus tyrosine-lacking kinase; Protein kinase HYL; Tyrosine-protein kinase CTK", "protein_names_refseq": "CSK homologous kinase; Csk-homologous kinase; Csk-type protein tyrosine kinase; HYL tyrosine kinase; hematopoietic consensus tyrosine-lacking kinase; hydroxyaryl-protein kinase; leukocyte carboxyl-terminal src kinase related; megakaryocyte-associated tyrosine-protein kinase isoform b; megakaryocyte-associated tyrosine-protein kinase; protein kinase HYL; tyrosine kinase MATK; tyrosine-protein kinase CTK; tyrosylprotein kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:4145); (R-HSA-8863795)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "11237011;12239347;14660651;15302935;16129412;17344846;17525332;18669648;18691976;19413330;19933325;21376233;23186163;24715725;25081058;26992070;28228285;28834231;29242379;29393594;29632711;29786170;30315122;30524438;32157095;32387766;32983136;33767439;34087483;34509645;35051231;35580925;7530249;7541030;7542744;7936664;8134117;8288563;9038210;9171348;9461599", "class_list": "", "function": "CSK-homologous kinase (CHK/MATK) is a potential colorectal cancer tumour suppressor gene epigenetically silenced by promoter methylation., [RefSeq, PubMed]; Could play a significant role in the signal transduction of hematopoietic cells. May regulate tyrosine kinase activity of SRC-family members in brain by specifically phosphorylating their C-terminal regulatory tyrosine residue which acts as a negative regulatory site. It may play an inhibitory role in the control of T-cell proliferation., [UniProtKB, PubMed]; The protein encoded by this gene has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a unique N terminus, lack of myristylation signals, lack of a negative regulatory phosphorylation site, and lack of an autophosphorylation site. This protein is thought to play a significant role in the signal transduction of hematopoietic cells. It is able to phosphorylate and inactivate Src family kinases, and may play an inhibitory role in the control of T-cell proliferation. This protein might be involved in signaling in some cases of breast cancer. Three alternatively spliced transcript variants that encode different isoforms have been described for this gene. [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, "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": 3, "reported_mutagensis": 0, "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": "B3KNZ9;Q9NST8", "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", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "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_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P42679-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10644-1", "uniprot_id": [ { "id": "KAP0_HUMAN", "url": "https://www.uniprot.org/uniprot/P10644", "type": "external" } ], "mass": 42982.0, "length": 381, "protein_name": "cAMP-dependent protein kinase type I-alpha regulatory subunit", "gene_name": "PRKAR1A", "organism": "Human", "refseq_name": "cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a", "refseq_ac": [ { "id": "NP_001263218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263218", "type": "external" } ], "gene_names_uniprotkb": "PRKAR1A; PKR1; PRKAR1; TSE1", "gene_names_refseq": "ACRDYS1; ADOHR; CAR; CNC1; CNC; PKR1; PPNAD1; PRKAR1A; PRKAR1; Prkar1alpha; TSE1", "protein_names_uniprotkb": "cAMP-dependent protein kinase type I-alpha regulatory subunit; TSE1; Tissue-specific extinguisher 1", "protein_names_refseq": "Carney complex type 1; cAMP-dependent protein kinase regulatory subunit RIalpha; cAMP-dependent protein kinase type I-alpha regulatory chain; cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a; epididymis secretory sperm binding protein; protein kinase A type 1a regulatory subunit; protein kinase, cAMP-dependent, regulatory subunit type I alpha; protein kinase, cAMP-dependent, regulatory, type I, alpha; tissue-specific extinguisher 1", "tax_id": 9606, "disease": "Carney complex (Disease Ontology:DOID:0050471); primary pigmented nodular adrenocortical disease (Disease Ontology:DOID:0060280); primary pigmented nodular adrenocortical disease 1 (Disease Ontology:DOID:0070546); acrodysostosis (Disease Ontology:DOID:14669); follicular thyroid carcinoma (Disease Ontology:DOID:3962); familial atrial myxoma (MONDO:MONDO:0009719)", "pathway": " (hsa:5573); (R-HSA-163615); (R-HSA-164378); (R-HSA-180024); (R-HSA-381676); (R-HSA-432040); (R-HSA-442720); (R-HSA-5610787); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-9700645); (R-HSA-9725370); (R-HSA-983231); (R-HSA-9856530)", "pathway_count": 15, "publication_count": 553, "publication_id_list": 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"class_list": "", "function": "A nonconventional nuclear localization sequence (NLS) has been found for PRKAR1A. This suggests a new function for PRKAR1A as a nuclear transport protein for the second subunit of RFC40., [RefSeq, PubMed]; Includes the study of a disease-related upstream ORF in this gene, and shows that it functions to reduce protein levels by ~95%., [RefSeq, PubMed]; PRKAR1A might function as a tumor suppressor gene Review article, [RefSeq, PubMed]; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]., [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": 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": 11, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "K7ER48;Q567S7", "ec_number_list": [], "go_molecular_function": "GO:0034236 protein kinase A catalytic subunit binding;GO:0019904 protein domain specific binding;GO:0004862 cAMP-dependent protein kinase inhibitor activity;GO:0008603 cAMP-dependent protein kinase regulator activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0010629 negative regulation of gene expression;GO:0034199 activation of protein kinase A activity", "synthesized_glycan_count": 0, "hit_score": 55.6, "record_id": "P10644-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05091-1", "uniprot_id": [ { "id": "ALDH2_HUMAN", "url": "https://www.uniprot.org/uniprot/P05091", "type": "external" } ], "mass": 56381.0, "length": 517, "protein_name": "Aldehyde dehydrogenase, mitochondrial", "gene_name": "ALDH2", "organism": "Human", "refseq_name": "aldehyde dehydrogenase, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_000681", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000681", "type": "external" } ], "gene_names_uniprotkb": "ALDH2; ALDM", "gene_names_refseq": "ALDH-E2; ALDH2; ALDHI; ALDM", "protein_names_uniprotkb": "Aldehyde dehydrogenase, mitochondrial; 1.2.1.3; ALDH class 2; ALDH-E2; ALDHI", "protein_names_refseq": "ALDH class 2; acetaldehyde dehydrogenase 2; aldehyde dehydrogenase 2 family (mitochondrial); aldehyde dehydrogenase, mitochondrial isoform 1 precursor; epididymis secretory sperm binding protein; liver mitochondrial ALDH; nucleus-encoded mitochondrial aldehyde dehydrogenase 2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); alcohol-associated liver disease (Disease Ontology:DOID:0070658); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); AMED syndrome (Disease Ontology:DOID:0080952); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); alcohol use disorder (Disease Ontology:DOID:1574); pancreatic cancer (Disease Ontology:DOID:1793); brain infarction (Disease Ontology:DOID:3454); liver disease (Disease Ontology:DOID:409); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976); alcohol sensitivity, acute (MONDO:MONDO:0012454)", "pathway": " (hsa:217); (R-HSA-380612); (R-HSA-445355); (R-HSA-71384); (R-HSA-9837999)", "pathway_count": 5, "publication_count": 134, "publication_id_list": "10441588;10631996;10697413;10843999;10991994;11237011;11242081;11457814;11532985;11889009;11923310;12048254;12198491;14506282;14623864;14627618;15242332;15377279;15522782;156362;15870080;16115876;16788062;17010132;17055381;17101804;17297443;1755855;17579211;18196;18452278;18974361;19068087;1930128;19380584;19841671;1985938;20616185;22262461;22421042;224930;22710082;22778174;23201127;23834404;23931759;24315374;24520911;24872348;2526655;25680115;26362469;26374642;26375851;26504172;26853435;26923599;270680;27452731;27496948;27642048;2764880;27679490;27706553;28038474;28377575;2838413;28396416;28443204;28741090;28904123;29026383;29301859;29557506;29632711;2987944;29932645;30120231;30397120;30429286;30833945;31154438;31327635;31695197;31844290;31848261;32157095;3278908;32983136;33257573;33355142;3365377;33968037;34171305;34357683;34704252;34725712;34943861;35580925;3562250;3582651;35870450;36010968;3610592;3653404;36629048;3780718;37938771;38253038;38297121;38465575;38519490;38567307;38665916;38725845;39401906;4015823;40596516;4065146;427099;4504607;4748759;6395883;6582480;7623837;8074657;8561277;8778744;8858389;9481611;9598563;9600334;9855623;9982", "class_list": "", "function": "Asian flush gene variant increases mild cognitive impairment risk: a cross-sectional study of the Yoshinogari Brain MRI Checkup Cohort., [RefSeq, PubMed]; Associations of ADH1B and ALDH2 genotypes and alcohol flushing with drinking history, withdrawal symptoms, and ICD-10 criteria in Japanese alcohol-dependent men., [RefSeq, PubMed]; Multi-Omics profiling identifies aldehyde dehydrogenase 2 as a critical mediator in the crosstalk between Treg-mediated immunosuppression microenvironment and hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Required for clearance of cellular formaldehyde, a cytotoxic and carcinogenic metabolite that induces DNA damage., [UniProtKB, PubMed]; The ALDH2 gene rs671 polymorphism is associated with cardiometabolic risk factors in East Asian population: an updated meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The aldehyde dehydrogenase 2 rs671 variant enhances amyloid beta pathology. Publication Status: Online-Only, [RefSeq, PubMed]; This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016]., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 21, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DW54;E7EUE5;Q03639;Q6IB13;Q6IV71", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.2.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.19", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.2.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.47", "type": "external" }, { "id": "1.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.46", "type": "external" }, { "id": "1.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.31", "type": "external" }, { "id": "1.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.8", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "1.1.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.41", "type": "external" }, { "id": "1.2.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.94", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "3.4.21.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.92", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0051287 NAD binding;GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity;GO:0106435 carboxylesterase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006066 alcohol metabolic process;GO:0006068 ethanol catabolic process;GO:0046185 aldehyde catabolic process;GO:0006067 ethanol metabolic process", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P05091-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22061-1", "uniprot_id": [ { "id": "PIMT_HUMAN", "url": "https://www.uniprot.org/uniprot/P22061", "type": "external" } ], "mass": 24636.0, "length": 227, "protein_name": "Protein-L-isoaspartate(D-aspartate) O-methyltransferase", "gene_name": "PCMT1", "organism": "Human", "refseq_name": "protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 2", "refseq_ac": [ { "id": "NP_001238978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238978", "type": "external" } ], "gene_names_uniprotkb": "PCMT1", "gene_names_refseq": "PCMT1; PIMT", "protein_names_uniprotkb": "Protein-L-isoaspartate(D-aspartate) O-methyltransferase; 2.1.1.77; L-isoaspartyl protein carboxyl methyltransferase; PIMT; Protein L-isoaspartyl/D-aspartyl methyltransferase; Protein-beta-aspartate methyltransferase", "protein_names_refseq": "L-isoaspartyl protein carboxyl methyltransferase; epididymis secretory sperm binding protein; protein L-isoaspartyl/D-aspartyl methyltransferase; protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 2; protein-beta-aspartate methyltransferase", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070)", "pathway": " (hsa:5110); (R-HSA-5676934)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10375640;10452521;10496068;10567350;11237011;11792715;11847284;12220640;1339271;16256389;18582870;1998518;21740066;24714562;24715725;25418920;25576301;25645385;26154972;2684970;26992070;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29351928;29437277;29493099;29557506;29786170;29789417;30315122;30410026;31020640;31217245;31611695;3167043;31844290;32157095;32350084;32357974;32488085;32870666;32897882;32938616;32983136;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34185709;34229054;34357683;34561969;34932366;35051231;35138101;35251023;35561310;35580925;36010968;36215666;36241641;3624258;36284347;37596654;37899170;37938771;37953789;38162070;38665916;40596516;6469980;7592526;8074695;8914929", "class_list": "", "function": "Four polymorphisms in the protein L-isoaspartyl-O-methyltransferase (PCMT1) gene, encoding a protein repair enzyme, are associated with premature ovarian failure (POF)., [RefSeq, PubMed]; Initiates the repair of damaged proteins by catalyzing methyl esterification of L-isoaspartyl and D-aspartyl residues produced by spontaneous isomerization and racemization of L-aspartyl and L-asparaginyl residues in aging peptides and proteins (PubMed:3167043, PubMed:6469980). Acts on EIF4EBP2, microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin C-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein and alpha-synuclein (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Our results showed that the Ile120Val polymorphism of PCMT1 gene is a genetic modifier for the risk of spina bifida. Val/Val genotype was associated with a reduction in risk for spina bifida. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PCMT1 is a potential target related to tumor progression and immune infiltration in liver cancer. Publication Status: Online-Only, [RefSeq, PubMed]; PCMT1 knockdown attenuates malignant properties by globally regulating transcriptome profiles in triple-negative breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; PCMT1 regulates the migration, invasion, and apoptosis of prostate cancer through modulating the PI3K/AKT/GSK-3beta pathway., [RefSeq, PubMed]; This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer's disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; [Prognostic Value of PCMT1 Expression in Gastric Cancer and Its Regulatory Effect on Spindle Assembly Checkpoints]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K109;J3KP72;Q14661;Q16556;Q5VYC1;Q5VYC2;Q93061;Q96II9;Q99625;Q9BQV7;Q9BQV8;Q9NP03", "ec_number_list": [ { "id": "2.1.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.77", "type": "external" } ], "go_molecular_function": "GO:0045296 cadherin binding;GO:0004719 protein-L-isoaspartate (D-aspartate) O-methyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:1903561 extracellular vesicle", "go_biological_process": "GO:0006479 protein methylation;GO:0030091 protein repair;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P22061-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0E2-1", "uniprot_id": [ { "id": "TOLIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0E2", "type": "external" } ], "mass": 30282.0, "length": 274, "protein_name": "Toll-interacting protein", "gene_name": "TOLLIP", "organism": "Human", "refseq_name": "toll-interacting protein isoform 2", "refseq_ac": [ { "id": "NP_001305441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305441", "type": "external" } ], "gene_names_uniprotkb": "TOLLIP", "gene_names_refseq": "IL-1RAcPIP; TOLLIP", "protein_names_uniprotkb": "Toll-interacting protein", "protein_names_refseq": "Toll-interacting protein; adapter protein; toll-interacting protein isoform 2", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:54472); (R-HSA-6798695); (R-HSA-9020702)", "pathway_count": 3, "publication_count": 106, "publication_id_list": "10075690;10514433;10702308;10854325;10882101;10918611;11094434;11230166;11237011;11751856;11960013;12496252;12538665;12791687;12860405;14563850;14625308;15047686;15917247;16412388;17135271;17141195;17507369;17675297;17890055;17997719;18070982;18180283;1828071;1833184;18438411;19264966;19903815;2139180;2147937;23650620;24714562;25042851;25576301;25892735;26154972;26282398;26320582;26728094;26992070;27090790;27466718;27600516;27846572;28218747;28467828;28832583;28834231;28904123;29242379;29314611;2946959;29493099;29557506;29769354;29786170;30315122;30429286;30573663;31154438;31263572;31844290;31848261;31998317;32157095;32350084;32488085;32983136;33592498;33717175;33968037;34019948;34357683;34433824;34725712;34932366;35051231;35154160;35251023;35318648;35561310;35580925;35803695;36215666;36284347;36499030;37644370;37926288;38124753;7628694;8327496;8332913;8599092;8692836;8837778;9346484;9371760;9430229;9859996;9990852;9990853", "class_list": "", "function": "Component of the signaling pathway of IL-1 and Toll-like receptors (PubMed:10854325, PubMed:11751856). Inhibits cell activation by microbial products. Recruits IRAK1 to the IL-1 receptor complex (PubMed:10854325). Inhibits IRAK1 phosphorylation and kinase activity (PubMed:11751856). Connects the ubiquitin pathway to autophagy by functioning as a ubiquitin-ATG8 family adapter and thus mediating autophagic clearance of ubiquitin conjugates (PubMed:25042851). The TOLLIP-dependent selective autophagy pathway plays an important role in clearance of cytotoxic polyQ proteins aggregates (PubMed:25042851). In a complex with TOM1, recruits ubiquitin-conjugated proteins onto early endosomes (PubMed:15047686). Binds to phosphatidylinositol 3-phosphate (PtdIns(3)P) (PubMed:26320582)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Component of the signaling pathway of IL-1 and Toll-like receptors. Inhibits cell activation by microbial products. Recruits IRAK1 to the IL-1 receptor complex. Inhibits IRAK1 phosphorylation and kinase activity. Connects the ubiquitin pathway to autophagy by functioning as a ubiquitin-ATG8 family adapter and thus mediating autophagic clearance of ubiquitin conjugates. The TOLLIP-dependent selective autophagy pathway plays an important role in clearance of cytotoxic polyQ proteins aggregates. In a complex with TOM1, recruits ubiquitin-conjugated proteins onto early endosomes. Binds to phosphatidylinositol 3-phosphate (PtdIns(3)P)., [UniProtKB, UniProtKB]; TOLLIP Optimizes Dendritic Cell Maturation to Lipopolysaccharide and Mycobacterium tuberculosis., [RefSeq, PubMed]; TOLLIP Protein Expression Predicts Unfavorable Outcome in Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]; Toll-interacting protein may affect doxorubicin resistance in hepatocellular carcinoma cell lines., [RefSeq, PubMed]; Tollip deficiency exaggerates airway type 2 inflammation in mice exposed to allergen and influenza A virus: role of the ATP/IL-33 signaling axis. 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, "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": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 2, "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": "B3KXC6;Q9H9E6;Q9UJ69", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005150 interleukin-1, type I receptor binding;GO:0031625 ubiquitin protein ligase binding;GO:0019900 kinase binding;GO:0031624 ubiquitin conjugating enzyme binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0070498 interleukin-1-mediated signaling pathway;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0030855 epithelial cell differentiation;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q9H0E2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20711-1", "uniprot_id": [ { "id": "DDC_HUMAN", "url": "https://www.uniprot.org/uniprot/P20711", "type": "external" } ], "mass": 53926.0, "length": 480, "protein_name": "Aromatic-L-amino-acid decarboxylase", "gene_name": "DDC", "organism": "Human", "refseq_name": "aromatic-L-amino-acid decarboxylase isoform 2", "refseq_ac": [ { "id": "NP_001229815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229815", "type": "external" } ], "gene_names_uniprotkb": "DDC; AADC", "gene_names_refseq": "AADC; DDC", "protein_names_uniprotkb": "Aromatic-L-amino-acid decarboxylase; 4.1.1.28; AADC; DDC; DOPA decarboxylase", "protein_names_refseq": "aromatic-L-amino-acid decarboxylase isoform 2; aromatic-L-amino-acid decarboxylase; dopa decarboxylase (aromatic L-amino acid decarboxylase)", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); aromatic L-amino acid decarboxylase deficiency (Disease Ontology:DOID:0090123); glycine N-methyltransferase deficiency (Disease Ontology:DOID:0111037); portal hypertension (Disease Ontology:DOID:10762); nephrotic syndrome (Disease Ontology:DOID:1184); Parkinson's disease (Disease Ontology:DOID:14330); hyperinsulinism (Disease Ontology:DOID:2018); bipolar disorder (Disease Ontology:DOID:3312); inherited metabolic disorder (Disease Ontology:DOID:655); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:1644); (R-HSA-209905); (R-HSA-209931)", "pathway_count": 3, "publication_count": 33, "publication_id_list": "10391209;11237011;12379098;12511643;1395716;14991824;15079002;1540578;15532536;1612608;1857555;22143761;23481700;2590185;27862975;29557506;30833945;3372503;34171305;3443096;35051231;36284347;37723208;37778471;37803205;37872211;37938771;38216729;7961964;7989373;8101641;8510497;8661026", "class_list": "", "function": "Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine and L-5-hydroxytryptophan to serotonin., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; DOPA decarboxylase is an emerging biomarker for Parkinsonian disorders including preclinical Lewy body disease., [RefSeq, PubMed]; Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling., [RefSeq, PubMed]; L-Dopa decarboxylase modulates autophagy in hepatocytes and is implicated in dengue virus-caused inhibition of autophagy completion., [RefSeq, PubMed]; Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study., [RefSeq, PubMed]; RNA modification regulator DDC in endometrial cancer affects the tumor microenvironment and patient prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]., [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": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 11, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9IYA0;E7ER62;E7EU95;Q16723;Q5W5T9;Q75MJ6", "ec_number_list": [ { "id": "4.1.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.28", "type": "external" } ], "go_molecular_function": "GO:0019899 enzyme binding;GO:0030170 pyridoxal phosphate binding;GO:0004058 aromatic-L-amino-acid decarboxylase activity;GO:0036468 L-dopa decarboxylase activity;GO:0036467 5-hydroxy-L-tryptophan decarboxylase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0042416 dopamine biosynthetic process;GO:0006584 catecholamine metabolic process;GO:0006520 amino acid metabolic process;GO:0042427 serotonin biosynthetic process;GO:0019752 carboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "P20711-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYG5-1", "uniprot_id": [ { "id": "APC11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYG5", "type": "external" } ], "mass": 9841.0, "length": 84, "protein_name": "Anaphase-promoting complex subunit 11", "gene_name": "ANAPC11", "organism": "Human", "refseq_name": "anaphase-promoting complex subunit 11 isoform 1", "refseq_ac": [ { "id": "NP_001002244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002244", "type": "external" } ], "gene_names_uniprotkb": "ANAPC11; HSPC214", "gene_names_refseq": "ANAPC11; APC11; Apc11p; HSPC214", "protein_names_uniprotkb": "Anaphase-promoting complex subunit 11; APC11; Cyclosome subunit 11; Hepatocellular carcinoma-associated RING finger protein", "protein_names_refseq": "APC11 anaphase promoting complex subunit 11 homolog; anaphase promoting complex subunit 11 (yeast APC11 homolog); anaphase-promoting complex subunit 11 isoform 1; cyclosome subunit 11; hepatocellular carcinoma-associated RING finger protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51529); (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": 122, "publication_id_list": "10201372;10318916;10339564;10411507;10432220;10548110;10679238;10733526;10793135;10884341;10922056;10995389;11046155;11062501;11081627;11114305;11125146;11237011;11248027;11285280;11340163;11350924;11371342;11509732;11535616;11562349;11573242;11598127;11739784;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;16595681;16626623;16648845;16824194;16849449;16954532;17187060;17234884;17485488;18267069;18411265;18485873;18555777;18555778;18662542;19028597;19352404;19452197;19489725;19805069;19851334;19874575;19896182;19940261;20028861;20351173;20452968;21325273;21670496;2183031;21979375;22084091;22178396;2261476;22634325;22885700;23603117;23846687;23851460;2405250;24706756;25043029;25231993;26083744;26222030;27120157;27249176;27509861;28218747;29033132;29437277;29743633;30410026;35051231;37573356;39894887;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9380723;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:11739784, PubMed:18485873, PubMed:27120157, PubMed:27509861). Together with ANAPC2, forms the catalytic component of the E3 ubiquitin ligase complex (PubMed:11739784, 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:11739784, 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)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Overexpression of APC11 is correlated with chromosomal instability in colorectal cancer. An association is observed between APC11 expression and lymphovascular invasion and residual tumor. High levels of APC11 protein in primary colorectal tumors is specifically correlated with metastasis at diagnosis. Publication Status: Online-Only, [RefSeq, PubMed]; The APC/C E3 ligase subunit ANAPC11 mediates FOXO3 protein degradation to promote cell proliferation and lymph node metastasis in urothelial bladder cancer. 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, "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": 0, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 0, "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": "A8MTT2;B7ZW64;Q502X9;Q9BW64;Q9P0R2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001664 G protein-coupled receptor binding;GO:0061630 ubiquitin protein ligase activity;GO:0034450 ubiquitin-ubiquitin ligase activity;GO:0097602 cullin family protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0005680 anaphase-promoting complex", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0051301 cell division;GO:0007346 regulation of mitotic cell cycle;GO:0016567 protein ubiquitination;GO:0031145 anaphase-promoting complex-dependent catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q9NYG5-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14868-1", "uniprot_id": [ { "id": "SYDC_HUMAN", "url": "https://www.uniprot.org/uniprot/P14868", "type": "external" } ], "mass": 57136.0, "length": 501, "protein_name": "Aspartate--tRNA ligase, cytoplasmic", "gene_name": "DARS1", "organism": "Human", "refseq_name": "aspartate--tRNA ligase, cytoplasmic isoform 2", "refseq_ac": [ { "id": "NP_001280241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280241", "type": "external" } ], "gene_names_uniprotkb": "DARS1; DARS; PIG40", "gene_names_refseq": "DARS1; DARS; HBSL; aspRS", "protein_names_uniprotkb": "Aspartate--tRNA ligase, cytoplasmic; 6.1.1.12; AspRS; Aspartyl-tRNA synthetase; Cell proliferation-inducing gene 40 protein", "protein_names_refseq": "aspartate tRNA ligase 1, cytoplasmic; aspartate--tRNA ligase, cytoplasmic isoform 2; aspartyl-tRNA synthetase, cytoplasmic; cell proliferation-inducing gene 40 protein; testicular tissue protein Li 192", "tax_id": 9606, "disease": "hypomyelination with brain stem and spinal cord involvement and leg spasticity (MONDO:MONDO:0014115)", "pathway": " (hsa:1615); (R-HSA-2408522); (R-HSA-379716); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 178, "publication_id_list": "10567402;10611221;10655586;10673502;11027551;11237011;11347887;11714285;11829477;11840323;11858721;11891324;11912130;11930005;12690580;1373391;14654843;14660560;14671330;14975237;15118077;15226305;15507434;16014379;16034366;16055448;16429158;16661668;16661782;16822840;16906134;1698554;17322306;1748288;1761529;17623675;18029264;18644867;18767875;18991276;19131329;19289464;19413330;19524539;19608861;19664994;19664995;20068231;20460180;21406692;21486943;21965087;22647378;23159739;23186163;23190890;23207919;23301498;23481700;23609930;23643384;24714562;24715725;25248477;25576301;25595898;25880248;25892735;26154972;26375851;26728094;2674137;26992070;27090790;27128622;27600516;27846572;27862975;27920218;28218747;28228285;28394346;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29295999;29314611;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29930882;30315122;30410026;30429286;30779550;30804224;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32265295;32350084;32357974;32387766;32502341;32636443;32897882;32938616;32983136;33214551;33298915;33592498;33717175;33744299;33912179;33936100;33968037;33981976;34019948;34140478;34171305;34357683;34509645;34725712;34932366;35008409;35051231;35138101;35154160;35251023;35357600;35561310;35580925;35696251;36010968;36241641;36284347;36581221;37770430;38665916;39030308;4130389;5338216;6022858;656444;7118399;7654687;7958932;8052601;8078941;8188258;8336698;8428657;8449960;9199364;9278442;9353119;9421509;9431993;9440696;9560246;9676189;9760192;9973413", "class_list": "", "function": "Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; DARS expression in BCR/ABL1-negative myeloproliferative neoplasms and its association with the immune microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; Developmental delay and late onset HBSL pathology in hypomorphic Dars1(M256L) mice. Erratum:[Neurochem Res. 2022 Jul;47(7):1985-1990. doi: 10.1007/s11064-022-03602-3. PMID: 35449376], [RefSeq, PubMed]; Functional genomics screening identifies aspartyl-tRNA synthetase as a novel prognostic marker and a therapeutic target for gastric cancers., [RefSeq, PubMed]; This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 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": 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "A8K3J2;D3DP77;Q2TNI3;Q32Q69;Q53HV4;Q53YC5;Q68CR9;Q9BW52", "ec_number_list": [ { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "6.1.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.12", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "6.1.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.18", "type": "external" }, { "id": "6.1.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.19", "type": "external" }, { "id": "6.1.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.10", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "6.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.6", "type": "external" }, { "id": "6.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.4", "type": "external" } ], "go_molecular_function": "GO:0004815 aspartate-tRNA ligase activity;GO:0003723 RNA binding;GO:0004046 aminoacylase activity;GO:0005524 ATP binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006418 tRNA aminoacylation for protein translation;GO:0006412 translation;GO:0006422 aspartyl-tRNA aminoacylation;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "P14868-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02790-1", "uniprot_id": [ { "id": "FKBP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02790", "type": "external" } ], "mass": 51805.0, "length": 459, "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP4", "gene_name": "FKBP4", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase FKBP4", "refseq_ac": [ { "id": "NP_002005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002005", "type": "external" } ], "gene_names_uniprotkb": "FKBP4; FKBP52", "gene_names_refseq": "FKBP4; FKBP51; FKBP52; FKBP59; HBI; Hsp56; PPIase; p52", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase FKBP4; 5.2.1.8; 51 kDa FK506-binding protein; 52 kDa FK506-binding protein; 52 kDa FKBP; 59 kDa immunophilin; FK506-binding protein 4; FKBP-4; FKBP-52; FKBP51; FKBP59; HBI; HSP-binding immunophilin; Immunophilin FKBP52; PPIase FKBP4; Rotamase; p59", "protein_names_refseq": "FK506 binding protein 4, 59kDa; HSP binding immunophilin; T-cell FK506-binding protein, 59kD; peptidyl-prolyl cis-trans isomerase FKBP4; peptidylprolyl cis-trans isomerase; rotamase", "tax_id": 9606, "disease": "sleep apnea (Disease Ontology:DOID:0050847); left ventricular failure (Disease Ontology:DOID:0051064); congenital secretory sodium diarrhea 8 (Disease Ontology:DOID:0060777); hypertension (Disease Ontology:DOID:10763); exocrine pancreatic insufficiency (Disease Ontology:DOID:13316); malignant renovascular hypertension (Disease Ontology:DOID:13730); cystic fibrosis (Disease Ontology:DOID:1485); renovascular hypertension (Disease Ontology:DOID:1591); androgen insensitivity syndrome (Disease Ontology:DOID:4674); nephrolithiasis (Disease Ontology:DOID:585); gastrointestinal system disease (Disease Ontology:DOID:77); chronic kidney disease (Disease Ontology:DOID:784); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2288); (R-HSA-3371497); (R-HSA-3371568); (R-HSA-8939211); (R-HSA-9018519); (R-HSA-9679191)", "pathway_count": 6, "publication_count": 382, "publication_id_list": "10087012;10207098;10485477;10500157;10588810;10747884;10822011;10828826;10873660;11010967;11034064;11103799;11136970;11150164;11162936;11165043;11237011;11250728;11345900;11410592;11452016;11478682;11581164;11583998;11589254;11682626;11701661;11751894;11795466;12118371;12498683;12499534;12604780;12612073;12672240;12781197;1279700;12943986;12959972;13486053;1371107;1376003;1383226;14605097;14631847;14675539;1493716;15001666;15094156;15159550;15276198;15282324;15343269;15345050;15381148;15514030;15591061;15986123;16009131;16046058;1607379;16087863;16113099;16115318;1628823;1630819;16403413;16522641;16809759;16964243;16980581;17013392;1720327;17277772;1730655;17463000;17495528;17510434;17525332;17591767;17615152;17637753;17662961;17666587;17690249;17722004;17804755;17873880;18077418;18187655;18215318;18219272;18243712;18254226;18256232;18322535;18358809;18451092;18476782;18512783;18533032;18635947;18669648;18707149;18762174;18805503;19001364;19020303;19098913;19229036;19274700;19295514;19321454;19359544;19383337;19413330;19608861;19718048;19945390;20006655;20038533;20068231;20072699;20112406;20188096;20219941;20220130;20223979;20353944;20379036;20498280;20570965;20682797;21106759;21151129;21158691;21183720;21376746;21406692;21445275;21573489;21700222;21730050;21796517;2181374;21835891;21878914;21934649;21940756;22011577;22056668;22265404;22266222;22318716;22393957;22401777;22433123;22492511;22545144;22552008;22704330;22791416;22814904;22869377;23145106;23172872;23186163;23192763;23303788;23375374;23403292;23435229;23641311;23684889;23723241;2378870;23850489;23906331;24012426;24071518;24167369;24272870;24288332;24366607;24371278;24397554;24584101;24694367;24715725;24735615;24854081;24885040;24973012;24998469;25114211;25296600;25303530;25365482;25433557;25500870;25542856;25576301;25597633;25633194;25645385;25663755;25674852;25728767;25801024;26002965;26056233;26073023;26153859;26154972;26203193;26204489;26313416;26462610;26479350;26610607;26758079;26811146;26853435;26992070;27062924;27090790;27452731;27462449;27600516;27663436;27846572;27886276;27893789;27920218;28063628;28083797;28218747;28228285;28301631;28425720;28467828;28539435;28649982;28755533;28832583;28834231;28855257;28904123;28919297;2919170;29242379;29314611;29393594;29493099;29557506;29632046;29632711;29786170;29945920;30197098;30201761;30315122;30379171;30410026;30429286;3045126;30779550;30833945;31048504;31092671;31110491;31141847;31217245;31530632;3167974;31731497;31826031;31844290;31848261;31998317;32016915;32119511;32157095;32161166;32320027;32350084;32357974;32448030;32488085;32544881;3281094;32897882;32938616;32982970;32983136;33141586;33214551;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34105348;34171305;34185709;34211107;34357683;34725712;34932366;3498214;35008409;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36520303;3677090;37026526;37248902;37938771;38203854;38665916;39505995;40596516;40914422;6201744;6645495;6891012;7559524;7689695;7784095;7892243;7906860;7935485;7937828;7984152;8157723;8180109;8195246;8197458;8221895;8232319;8282004;8327492;8419924;8560673;8641283;8876171;9048584;9115298;9183567;9201922;9222609;9295332;9338790;9346945;9388265;9392437;9405642;9464360;9464361;9499401;9611253;9649501;9667968;9671459;9707442;9731700;9817749", "class_list": "", "function": "Concomitant Neuronal Tau Deposition and FKBP52 Decrease Is an Early Feature of Different Human and Experimental Tauopathies., [RefSeq, PubMed]; FKBP4 promotes glycolysis and hepatocellular carcinoma progression via p53/HK2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Functions of the Hsp90-Binding FKBP Immunophilins., [RefSeq, PubMed]; Immunophilin protein with PPIase and co-chaperone activities. Component of steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments. The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Also acts as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly. May have a protective role against oxidative stress in mitochondria., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Impact of FKBP52 on cell proliferation and hormone-dependent cancers. Review article, [RefSeq, PubMed]; Secretome Analyses Identify FKBP4 as a GBA1-Associated Protein in CSF and iPS Cells from Parkinson's Disease Patients with GBA1 Mutations. 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 has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 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, "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DUQ1;Q9UCP1;Q9UCV7", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "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:0003723 RNA binding;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0030674 protein-macromolecule adaptor activity;GO:0031072 heat shock protein binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0031111 negative regulation of microtubule polymerization or depolymerization;GO:0010977 negative regulation of neuron projection development;GO:0006457 protein folding;GO:0006825 copper ion transport;GO:0031115 negative regulation of microtubule polymerization", "synthesized_glycan_count": 0, "hit_score": 38.7, "record_id": "Q02790-1", "record_type": "protein", "filter_code": "1000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2S1-1", "uniprot_id": [ { "id": "KCNN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2S1", "type": "external" } ], "mass": 63760.0, "length": 579, "protein_name": "Small conductance calcium-activated potassium channel protein 2", "gene_name": "KCNN2", "organism": "Human", "refseq_name": "small conductance calcium-activated potassium channel protein 2 isoform b", "refseq_ac": [ { "id": "NP_740721", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_740721", "type": "external" } ], "gene_names_uniprotkb": "KCNN2", "gene_names_refseq": "DYT34; KCNN2; KCa2.2; NEDMAB; SK2; SKCA2; SKCa 2; hSK2", "protein_names_uniprotkb": "Small conductance calcium-activated potassium channel protein 2; KCa2.2; SK2; SKCa 2; SKCa2", "protein_names_refseq": "apamin-sensitive small-conductance Ca2+-activated potassium channel; potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2; potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2; small conductance calcium-activated potassium channel 2; small conductance calcium-activated potassium channel protein 2 isoform b; small conductance calcium-activated potassium channel protein 2", "tax_id": 9606, "disease": "myoclonic dystonia 34 (Disease Ontology:DOID:0060957); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); essential tremor (Disease Ontology:DOID:4990); neurodevelopmental disorder with or without variable movement or behavioral abnormalities (MONDO:MONDO:0859225)", "pathway": " (hsa:3781); (R-HSA-1296052); (R-HSA-9667769)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "10991935;11237011;11752216;13679367;16513649;18452278;19074509;20178789;20689065;20859064;23481700;25418920;25645385;25892735;26992070;28063628;28228285;28649982;28904123;29632046;29786170;30524438;31844290;32157095;32212350;32350084;32387766;32938616;33242881;33310041;34509645;35051231;36502918;36717104;37510285;9287325", "class_list": "", "function": "A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]., [RefSeq]; Because of the marked differential expression of SK2 channels in the heart, specific ligands for Ca2+-activated K+ currents may offer a unique therapeutic opportunity to modify atrial cells without interfering with ventricular myocytes, [RefSeq, PubMed]; HDAC2-dependent remodeling of KCa2.2 (KCNN2) and KCa2.3 (KCNN3) K(+) channels in atrial fibrillation with concomitant heart failure., [RefSeq, PubMed]; Loss-of-function KCa2.2 mutations abolish channel activity., [RefSeq, PubMed]; Preferential formation of human heteromeric SK2:SK3 channels limits homomeric SK channel assembly and function., [RefSeq, PubMed]; Small conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calcium allowing its opening (PubMed:10991935, PubMed:33242881, PubMed:9287325). The current is characterized by a voltage-independent activation, an intracellular calcium concentration increase-dependent activation and a single-channel conductance of about 3 picosiemens (PubMed:10991935). Also presents an inwardly rectifying current, thus reducing its already small outward conductance of potassium ions, which is particularly the case when the membrane potential displays positive values, above + 20 mV (PubMed:10991935). The inward rectification could be due to a blockade of the outward current by intracellular divalent cations such as calcium and magnesium and could also be due to an intrinsic property of the channel pore, independent of intracellular divalent ions. There are three positively charged amino acids in the S6 transmembrane domain, close to the pore, that collectively control the conductance and rectification through an electrostatic mechanism. Additionally, electrostatic contributions from these residues also play an important role in determining the intrinsic open probability of the channel in the absence of calcium, affecting the apparent calcium affinity for activation. Forms an heteromeric complex with calmodulin, which is constitutively associated in a calcium-independent manner. Channel opening is triggered when calcium binds the calmodulin resulting in a rotary movement leading to the formation of the dimeric complex to open the gate (By similarity). Plays a role in the repolarization phase of cardiac action potential (PubMed:13679367)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, 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": 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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NF94;Q0VFZ4;Q6PJI0;Q6X2Y2", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0019904 protein domain specific binding;GO:0042803 protein homodimerization activity;GO:0051393 alpha-actinin binding;GO:0015269 calcium-activated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0043025 neuronal cell body;GO:0043197 dendritic spine", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:0098914 membrane repolarization during atrial cardiac muscle cell action potential;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9H2S1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P84022-1", "uniprot_id": [ { "id": "SMAD3_HUMAN", "url": "https://www.uniprot.org/uniprot/P84022", "type": "external" } ], "mass": 48081.0, "length": 425, "protein_name": "SMAD family member 3", "gene_name": "SMAD3", "organism": "Human", "refseq_name": "SMAD family member 3 isoform 2", "refseq_ac": [ { "id": "NP_001138574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138574", "type": "external" } ], "gene_names_uniprotkb": "SMAD3; MADH3", "gene_names_refseq": "HSPC193; HsT17436; JV15-2; LDS1C; LDS3; MADH3; SMAD3; hMAD-3; hSMAD3; mad3", "protein_names_uniprotkb": "SMAD family member 3; JV15-2; MAD homolog 3; Mad3; Mothers against DPP homolog 3; Mothers against decapentaplegic homolog 3; SMAD 3; hMAD-3; hSMAD3", "protein_names_refseq": "MAD homolog 3; MAD, mothers against decapentaplegic homolog 3; SMA- and MAD-related protein 3; SMAD family member 3 isoform 2; SMAD, mothers against DPP homolog 3; mad homolog JV15-2; mad protein homolog; mothers against DPP homolog 3", "tax_id": 9606, "disease": "pre-malignant neoplasm (Disease Ontology:DOID:0060071); Loeys-Dietz syndrome 3 (Disease Ontology:DOID:0070237); prostate cancer (Disease Ontology:DOID:10283); hypospadias (Disease Ontology:DOID:10892); alcoholic cardiomyopathy (Disease Ontology:DOID:12935); endometrial cancer (Disease Ontology:DOID:1380); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); pancreatic cancer (Disease Ontology:DOID:1793); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); Lynch syndrome (Disease Ontology:DOID:3883); lung non-small cell carcinoma (Disease Ontology:DOID:3908); osteoarthritis (Disease Ontology:DOID:8398); colorectal cancer (Disease Ontology:DOID:9256); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:4088); (R-HSA-1181150); (R-HSA-1502540); (R-HSA-2173788); (R-HSA-2173789); (R-HSA-2173795); (R-HSA-2173796); (R-HSA-3304356); (R-HSA-3311021); (R-HSA-3315487); (R-HSA-3656532); (R-HSA-5689880); (R-HSA-8941855); (R-HSA-8952158); (R-HSA-9008059); (R-HSA-9013695); (R-HSA-9615017); (R-HSA-9617828); (R-HSA-9735871); (R-HSA-9754189); (R-HSA-9796292); (R-HSA-9823730); (R-HSA-9839394)", "pathway_count": 23, "publication_count": 406, "publication_id_list": "10022869;10102273;10197981;10199400;10217147;10358014;10441331;10444327;10473623;10480625;10485843;10519551;10531062;10531362;10535941;10549282;10587642;10587654;10757800;10822381;10913147;10934479;10982817;10995748;11007770;11013220;11024047;11100470;11117535;11141505;11145836;11158580;11163210;11224571;11237011;11274402;11278251;11278756;11294908;11387212;11389444;11389842;11390472;11424093;11427533;11485994;11566882;11779503;11779505;11779849;11839743;11884591;11923872;11964479;12063393;12096920;12150994;12151385;12154125;12239572;12370310;12381835;12446674;12482908;12519765;12592392;12637528;12686552;12809600;12917425;12917689;12917691;1333888;14512875;14525983;14657019;14661020;14672936;14701756;14718519;14978253;15051726;15053880;15084259;15087470;15100235;15110706;15123686;15150273;15150278;15241418;15350224;15458387;15485907;15496141;15520018;15527767;15531507;15531924;15561701;15564041;15588252;15601644;15647271;15781469;15799969;15820681;15897867;15916963;16027725;16061177;16103198;16135801;16140969;16156666;16200078;16214042;16260601;16278212;16319104;16373335;16449645;16528675;16738314;16751101;16751102;16777850;16783365;16840535;16862174;16901786;16959974;16964248;16998888;17068183;17074756;17099224;17204604;17272273;17290220;17292623;17306213;17327236;17438144;17443180;17510063;17591695;17592128;17873522;17906079;17947532;17980597;17981138;18042803;18055455;18166170;18172164;18172167;18239137;18299279;18390730;18444242;18467330;18469808;18550259;18568018;18632802;18636086;18669648;18729794;18794808;18951876;19015242;19049980;19114991;19114992;19135894;19188362;19218245;19289081;19363159;19398555;19413330;19424180;19458083;19564924;19720988;19758997;19838211;19874889;19910467;19914161;19914168;19917253;19920136;20061380;20068231;20096447;20129061;20154085;20228808;20353948;20368735;20478047;20501646;20595680;20599712;20625381;20659902;20694664;20804727;20935647;20937913;21095583;21145499;21217753;21239494;21245162;21356369;21358634;21362556;21383881;21532621;21536589;21571647;21596315;21630377;21659512;21741376;21778426;21849505;21855631;21947082;21962518;22029577;22045334;22085928;22128162;22216260;22275377;22344298;22781750;22927969;22995475;23077590;23139211;23159851;23186163;23290524;23395819;23481700;23486064;23580232;23824326;23825189;23918930;23991075;24028821;24040102;24047697;24056413;24080014;24260525;24312578;24324267;24481253;24485922;24493797;24613385;24627487;24759784;24896179;25105025;25133494;25197364;25271362;25305019;25576301;25578727;25693565;25729923;25843708;25843800;25878769;25921273;25936800;26015544;26297431;26375851;26387946;26497676;26801977;26919443;26956045;26992070;27060871;27153775;27547294;27705785;27906182;28032440;28092676;28454099;28471448;28832583;28834231;29057934;29097203;29137393;29146722;29179471;29234012;29242379;29321644;29393594;29499695;29524413;29557506;29577978;29632711;30135653;30171053;30251686;30274147;30315122;30356176;30363688;30467960;30542739;30629940;30805303;30833945;30899443;31154438;31409900;31722981;31840817;31844290;31848261;31924815;31936902;32157095;32161166;32329246;32357974;32448362;32488085;32515734;32795420;32897882;32938616;32983136;33147444;33295886;33592498;33676893;33912179;33968037;34171305;34932366;35051231;35580925;36010968;36241641;36284347;37222488;38665916;39143229;39225541;39299505;39332407;7578059;7693660;7737999;8047140;8196624;8242743;8622651;8673135;8721982;8774881;8878477;8947046;8980228;9032295;9214508;9215638;9233797;9288972;9311995;9335507;9346966;9380693;9417125;9459292;9464505;9665135;9670020;9679059;9702198;9732876;9741623;9843571;9856985;9865696;9892009", "class_list": "", "function": "Connexin 43 controls metastatic behavior in triple negative breast cancer through TGFbeta1-Smad3-intergin alphaV signaling axis Based on optical image diagnosis., [RefSeq, PubMed]; Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SMAD3 mediates the specification of human induced pluripotent stem cell-derived epicardium into progenitors for the cardiac pericyte lineage., [RefSeq, PubMed]; The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022]., [RefSeq]; ZNF8 Orchestrates with Smad3 to Promote Lung Metastasis by Recruiting SMYD3 in Breast Cancer., [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": 46, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K4B6;B7Z4Z5;B7Z6M9;B7Z9Q2;F5H383;O09064;O09144;O14510;O35273;Q92940;Q93002;Q9GKR4", "ec_number_list": [], "go_molecular_function": "GO:0070410 co-SMAD binding;GO:0031962 nuclear mineralocorticoid receptor binding;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0071144 heteromeric SMAD protein complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0071635 negative regulation of transforming growth factor beta production;GO:0097305 response to alcohol;GO:0061767 negative regulation of lung blood pressure;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 40.9, "record_id": "P84022-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05D60-1", "uniprot_id": [ { "id": "DEUP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05D60", "type": "external" } ], "mass": 70977.0, "length": 604, "protein_name": "Deuterosome assembly protein 1", "gene_name": "DEUP1", "organism": "Human", "refseq_name": "deuterosome assembly protein 1", "refseq_ac": [ { "id": "NP_857596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857596", "type": "external" } ], "gene_names_uniprotkb": "DEUP1; CCDC67", "gene_names_refseq": "CCDC67; DEUP1", "protein_names_uniprotkb": "Deuterosome assembly protein 1; Coiled-coil domain-containing protein 67", "protein_names_refseq": "coiled-coil domain containing 67; coiled-coil domain-containing protein 67; deuterosome assembly protein 1; deuterosome protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:159989)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;18491316;22610074;23481700;26716505;31081096;34260288;35051231", "class_list": "", "function": "E2F4's cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6., [RefSeq, PubMed]; Key structural component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells and can generate more than 100 centrioles. Probably sufficient for the specification and formation of the deuterosome inner core. Interacts with CEP152 and recruits PLK4 to activate centriole biogenesis (By similarity)., [UniProtKB]; Loss of CCDC67 is associated with papillary thyroid carcinoma., [RefSeq, PubMed]; MiR-96-5p promotes the proliferation, invasion and metastasis of papillary thyroid carcinoma through down-regulating CCDC67., [RefSeq, PubMed]; Suggest that CCDC67 is a putative tumor suppressor gene that is silenced in gastric cancers by promoter CpG methylation and that it may play an important role in cell signaling and migration related to tumorigenesis, [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": 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": 3, "reported_mutagensis": 0, "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": "E9PJR5;Q8NEF1;Q96LL7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005814 centriole;GO:0098536 deuterosome", "go_biological_process": "GO:1903251 multi-ciliated epithelial cell differentiation;GO:0030030 cell projection organization;GO:0007099 centriole replication;GO:0098535 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q05D60-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR19-1", "uniprot_id": [ { "id": "ACSA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR19", "type": "external" } ], "mass": 78580.0, "length": 701, "protein_name": "Acetyl-coenzyme A synthetase, cytoplasmic", "gene_name": "ACSS2", "organism": "Human", "refseq_name": "acetyl-coenzyme A synthetase, cytoplasmic isoform 2", "refseq_ac": [ { "id": "NP_001070020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070020", "type": "external" } ], "gene_names_uniprotkb": "ACSS2; ACAS2", "gene_names_refseq": "ACAS2; ACECS; ACSA; ACSS2; ACS; AceCS1; dJ1161H23.1", "protein_names_uniprotkb": "Acetyl-coenzyme A synthetase, cytoplasmic; 6.2.1.-; 6.2.1.17; 6.2.1.1; ACS; AceCS1; AceCS; Acetate--CoA ligase; Acetyl-CoA synthetase 1; Acetyl-CoA synthetase; Acyl-CoA synthetase short-chain family member 2; Acyl-activating enzyme; Lactyl-CoA synthetase; Propionyl-CoA synthetase", "protein_names_refseq": "acetate thiokinase; acetate-CoA ligase; acetyl-CoA synthetase 1; acetyl-Coenzyme A synthetase 2 (ADP forming); acetyl-coenzyme A synthetase, cytoplasmic isoform 2; acetyl-coenzyme A synthetase, cytoplasmic; acyl-activating enzyme; cytoplasmic acetyl-coenzyme A synthetase; propionate--CoA ligase", "tax_id": 9606, "disease": "orofacial cleft (Disease Ontology:DOID:0050567); morbid obesity (Disease Ontology:DOID:11981); alcohol use disorder (Disease Ontology:DOID:1574); lymphangioleiomyomatosis (Disease Ontology:DOID:3319)", "pathway": " (hsa:55902); (R-HSA-2151201); (R-HSA-71384)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10412986;10441588;10631996;10643692;10697413;10713165;10843999;11237011;11340167;11809803;12374852;12563009;12745923;15684387;16079181;16079853;16788062;16890199;16908542;16911507;17031457;17322306;17437997;1755855;17715127;17923681;18088087;18196;18215119;18343819;18660489;18669648;18680753;18767875;19001277;19356719;19413330;19415658;19417006;19562805;19608861;19617323;19651622;1985938;19913121;19951946;20068231;20166139;20616185;224930;23186163;24275569;25576301;25892735;26992070;270680;27846572;27862975;27920218;28003429;28218747;28510447;28552616;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29789417;30315122;30379171;30410026;30429286;30779550;31154438;31750240;31844290;31848261;32157095;32161166;32350084;32488085;3278908;32922914;32938616;32983136;33141586;33298915;33392160;3365377;33968037;35051231;35190642;35318648;35580925;35777482;36707625;38051585;38369012;38851813;39561764;4065146;427099;4504607;4748759;6395883;7629110;7799916;8074657;8108407;8333869;9178750;9286700;9982", "class_list": "", "function": "ACSS2 gene variants determine kidney disease risk by controlling de novo lipogenesis in kidney tubules. Publication Status: Online-Only, [RefSeq, PubMed]; ACSS2-mediated NF-kappaB activation promotes alkaliptosis in human pancreatic cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Acetyl-Coenzyme A Synthetase 2 Potentiates Macropinocytosis and Muscle Wasting Through Metabolic Reprogramming in Pancreatic Cancer., [RefSeq, PubMed]; Because the activity of a bacterial ortholog of AceCS2, called ACS, is controlled via deacetylation by a bacterial sirtuin protein, our observation highlights the conservation of a metabolic regulatory pathway from bacteria to humans, [RefSeq, PubMed]; Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:10843999, PubMed:28003429, PubMed:28552616, PubMed:38369012, PubMed:39561764). Acetate is the preferred substrate (PubMed:10843999, PubMed:28003429, PubMed:38369012, PubMed:39561764). Can also utilize propionate with a much lower affinity (PubMed:38369012). Catalyzes the conversion of lactate into lactoyl-CoA (PubMed:39561764). Does not catalyze the conversion of butyrate or crotonate to their corresponding acyl-CoAs (PubMed:38369012). Nuclear ACSS2 promotes glucose deprivation-induced lysosomal biogenesis and autophagy, tumor cell survival and brain tumorigenesis (PubMed:28552616). Glucose deprivation results in AMPK-mediated phosphorylation of ACSS2 leading to its translocation to the nucleus where it binds to TFEB and locally produces acetyl-CoA for histone acetylation in the promoter regions of TFEB target genes thereby activating their transcription (PubMed:28552616). The regulation of genes associated with autophagy and lysosomal activity through ACSS2 is important for brain tumorigenesis and tumor survival (PubMed:28552616). Acts as a chromatin-bound transcriptional coactivator that up-regulates histone acetylation and expression of neuronal genes (By similarity). Can be recruited to the loci of memory-related neuronal genes to maintain a local acetyl-CoA pool, providing the substrate for histone acetylation and promoting the expression of specific genes, which is essential for maintaining long-term spatial memory (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Proteomic profiling reveals ACSS2 facilitating metabolic support in acute myeloid leukemia., [RefSeq, PubMed]; The patterns of (18)F-FDG and (11)C-acetate uptake seemed to complement each other in both human HCC and HCC cell lines., [RefSeq, PubMed]; This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 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, "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": 7, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NE90;Q5QPH2;Q5QPH3;Q8N238;Q96EL0;Q9NQP7;Q9UJ15", "ec_number_list": [ { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.15.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.15.1.1", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "6.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.1", "type": "external" }, { "id": "6.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.2", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "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:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0005524 ATP binding;GO:0016208 AMP binding;GO:0003987 acetate-CoA ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0008610 lipid biosynthetic process;GO:0006068 ethanol catabolic process;GO:0006085 acetyl-CoA biosynthetic process;GO:0007616 long-term memory", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q9NR19-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CS2-1", "uniprot_id": [ { "id": "HAUS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CS2", "type": "external" } ], "mass": 31863.0, "length": 278, "protein_name": "HAUS augmin-like complex subunit 1", "gene_name": "HAUS1", "organism": "Human", "refseq_name": "HAUS augmin-like complex subunit 1", "refseq_ac": [ { "id": "NP_612452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612452", "type": "external" } ], "gene_names_uniprotkb": "HAUS1; CCDC5; HEIC", "gene_names_refseq": "CCDC5; HAUS1; HEI-C; HEIC; HsT1461", "protein_names_uniprotkb": "HAUS augmin-like complex subunit 1; Coiled-coil domain-containing protein 5; Enhancer of invasion-cluster; HEI-C", "protein_names_refseq": "HAUS augmin-like complex subunit 1; coiled-coil domain containing 5 (spindle associated); coiled-coil domain-containing protein 5; enhancer of invasion-cluster", "tax_id": 9606, "disease": "", "pathway": " (hsa:115106); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 145, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;15082789;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19369198;19427217;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22424782;22433857;22544926;22641346;22645359;22653444;23141531;23141541;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24714562;24715725;24982133;25047611;25313408;25418920;25532896;25576301;25645385;25880248;26728094;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28446606;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30410026;30429286;30524438;30723163;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33402344;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;38818762;7769006;7790358;8838651", "class_list": "", "function": "Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex., [UniProtKB, PubMed, PubMed, PubMed]; HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]., [RefSeq]; Single-cell and bulk RNA-sequencing reveals mitosis-involved gene HAUS1 is a promising indicator for predicting prognosis and immune responses in prostate adenocarcinoma (PRAD)., [RefSeq, PubMed]; These results place human enhancer of invasion-cluster as a novel regulator of spindle function and integrity during the metaphase-anaphase transition., [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": 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": 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": "B2RDM7;Q8N837", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005829 cytosol;GO:0070652 HAUS complex;GO:1990498 mitotic spindle microtubule", "go_biological_process": "GO:0010968 regulation of microtubule nucleation;GO:0051301 cell division;GO:0007098 centrosome cycle;GO:0051225 spindle assembly", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q96CS2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07332-1", "uniprot_id": [ { "id": "FES_HUMAN", "url": "https://www.uniprot.org/uniprot/P07332", "type": "external" } ], "mass": 93497.0, "length": 822, "protein_name": "Tyrosine-protein kinase Fes/Fps", "gene_name": "FES", "organism": "Human", "refseq_name": "tyrosine-protein kinase Fes/Fps isoform 2", "refseq_ac": [ { "id": "NP_001137255", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137255", "type": "external" } ], "gene_names_uniprotkb": "FES; FPS", "gene_names_refseq": "FES; FPS", "protein_names_uniprotkb": "Tyrosine-protein kinase Fes/Fps; 2.7.10.2; Feline sarcoma/Fujinami avian sarcoma oncogene homolog; Proto-oncogene c-Fes; Proto-oncogene c-Fps; p93c-fes", "protein_names_refseq": "Oncogene FES, feline sarcoma virus; feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog; feline sarcoma oncogene; feline sarcoma/Fujinami avian sarcoma oncogene homolog; p93c-fes; proto-oncogene c-Fes; proto-oncogene c-Fps; proto-oncogene tyrosine-protein kinase Fes/Fps; tyrosine-protein kinase Fes/Fps isoform 2", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 16 with or without anosmia (Disease Ontology:DOID:0090080); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung adenocarcinoma (Disease Ontology:DOID:3910); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:2242); (R-HSA-1433557); (R-HSA-399954); (R-HSA-399955); (R-HSA-399956)", "pathway_count": 5, "publication_count": 138, "publication_id_list": "10075701;10358045;10377264;10397721;10523831;10523834;10559936;10679268;10679438;10884405;10934324;11237011;11276226;11278486;11339827;11395417;11494148;11509660;11520784;11604131;11707405;11809791;11994747;12062105;12093729;12192036;12372285;12422220;12660731;12824176;12878163;1371879;1375232;1381360;14685275;15143187;15302586;15485904;15526160;15652488;15676027;15867340;15869408;15929003;16129412;16286926;16455651;16483568;16737840;16792528;16873377;16930978;1721591;17255936;17344430;17344846;17595334;17607942;17607944;17662946;18046454;18697750;18775312;19001085;19051325;19082481;19369195;19382747;20111072;20304997;21563194;21622225;2179816;23481700;24275569;25418920;25576301;26154972;2656706;26992070;27536065;28463229;28832583;28834231;29242379;29393594;29508533;29557506;29632046;29704617;29964125;30429286;31085175;31154438;31573955;31746983;31848261;32157095;32387766;32502341;32897882;32938616;32983136;33123756;33968037;33981976;34509645;34932366;35051231;35580925;36321446;37938771;4065096;7506952;7509796;7523381;7526158;7536744;7680037;7687763;8334128;8611693;8636116;8647802;8663427;8695790;8774734;8950973;8955135;8990121;9038210;9045650;9111318;9256427;9355737;9446650;9799234;9872323", "class_list": "", "function": "Identification of FES as a Novel Radiosensitizing Target in Human Cancers., [RefSeq, PubMed]; The FES Gene at the 15q26 Coronary-Artery-Disease Locus Inhibits Atherosclerosis., [RefSeq, PubMed]; This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]., [RefSeq]; This study supports the critical role of FER and FES tyrosine kinase fusions in the pathogenesis of follicular T-cell lymphoma and provides additional evidence that these can drive follicular T-cell lymphoma in the absence of RHOA mutations., [RefSeq, PubMed]; Tyrosine-protein kinase that acts downstream of cell surface receptors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, cell attachment and cell spreading. Plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Acts down-stream of the activated FCER1 receptor and the mast/stem cell growth factor receptor KIT. Plays a role in the regulation of mast cell degranulation. Plays a role in the regulation of cell differentiation and promotes neurite outgrowth in response to NGF signaling. Plays a role in cell scattering and cell migration in response to HGF-induced activation of EZR. Phosphorylates BCR and down-regulates BCR kinase activity. Phosphorylates HCLS1/HS1, PECAM1, STAT3 and TRIM28., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]", "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": 10, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 3, "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": "B2R6E6;B4DUD0;E9PC94;E9PC95;Q2VXS7;Q2VXS8;Q2VXT0;Q6GTU5", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "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": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0034987 immunoglobulin receptor binding;GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0006935 chemotaxis;GO:0007155 cell adhesion;GO:0010976 positive regulation of neuron projection development;GO:0018108 peptidyl-tyrosine phosphorylation;GO:0030155 regulation of cell adhesion", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P07332-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15357-1", "uniprot_id": [ { "id": "SHIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15357", "type": "external" } ], "mass": 138599.0, "length": 1258, "protein_name": "Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2", "gene_name": "INPPL1", "organism": "Human", "refseq_name": "phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 isoform 2", "refseq_ac": [ { "id": "NP_001558", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001558", "type": "external" } ], "gene_names_uniprotkb": "INPPL1; SHIP2", "gene_names_refseq": "INPPL1; OPSMD; SHIP2", "protein_names_uniprotkb": "Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2; 3.1.3.86; INPPL-1; Inositol polyphosphate phosphatase-like protein 1; Protein 51C; SH2 domain-containing inositol 5'-phosphatase 2; SH2 domain-containing inositol phosphatase 2; SHIP-2", "protein_names_refseq": "51C protein; SH2 domain-containing inositol-5'-phosphatase 2; phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 isoform 2; phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2; protein 51C", "tax_id": 9606, "disease": "scoliosis (Disease Ontology:DOID:0060249); hypertension (Disease Ontology:DOID:10763); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); opsismodysplasia (MONDO:MONDO:0009785)", "pathway": " (hsa:3636); (R-HSA-1660499); (R-HSA-1855204); (R-HSA-912526); (R-HSA-9680350)", "pathway_count": 5, "publication_count": 229, "publication_id_list": "10194451;10207047;10224048;10455108;10555148;10559940;10570274;10593988;10753883;10805725;10822173;10866302;10982827;11001876;11016922;11022047;11022048;11042108;11084340;11118617;11158326;11237011;11279162;11302699;11340297;11349134;11604140;11676921;11687594;11733541;11739414;11877430;11909533;11923287;12101241;12118066;12223481;12235291;12324459;12422219;12504111;12522270;12536145;12646134;12676785;12690104;12747803;12808147;12847086;12882960;1333955;1334462;14516276;14617813;1465135;14660569;15037625;15080793;15107860;15135396;15140260;15220217;15316017;15464023;15474001;15579586;15592455;15668240;15687335;15702972;15716355;15735664;15790568;15797027;15840652;16107206;16154996;16302969;16399794;1644792;16476736;16497976;16522682;16824732;16914545;16979564;17008356;17081983;17135240;1718960;17219406;17245604;17314030;17389395;17557929;17651088;18093523;18452278;18467591;18669648;18691976;18753295;19038970;19179337;19651622;19896968;19901323;20068231;20489731;20534812;20933011;21049007;21204784;21624956;21770892;21872626;2196173;21993680;22037487;22153499;22194892;22483114;22647598;23186163;23273569;23301498;23519112;23758345;24561238;24715725;24890514;25418920;25495341;2550068;25576301;26029847;26235028;26992070;27600516;27846572;28218747;28228285;2841328;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30410026;30524438;31217245;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33968037;34171305;34509645;34932366;35051231;35132862;35580925;36241641;37938771;38309262;38665916;38833073;38982595;7597091;7608176;7624799;7681396;7721860;7737969;7761412;7890667;8084588;8294403;8355686;8407970;8454637;8530088;8530101;8662638;8681945;8723348;8769125;8981370;9094719;9099679;9108392;9113989;9211928;9225065;9286278;9295334;9360711;9367159;9367831;9428629;9430698;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063;9885561", "class_list": "", "function": "Alteration of gene expression and protein solubility of the PI 5-phosphatase SHIP2 are correlated with Alzheimer's disease pathology progression. Publication Status: Online-Only, [RefSeq, PubMed]; Helicobacter pylori East Asian type CagA hijacks more SHIP2 by its EPIYA-D motif to potentiate the oncogenicity., [RefSeq, PubMed]; Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways (PubMed:16824732). Required for correct mitotic spindle orientation and therefore progression of mitosis (By similarity). Plays a central role in regulation of PI3K-dependent insulin signaling, although the precise molecular mechanisms and signaling pathways remain unclear (PubMed:9660833). While overexpression reduces both insulin-stimulated MAP kinase and Akt activation, its absence does not affect insulin signaling or GLUT4 trafficking (By similarity). Confers resistance to dietary obesity (By similarity). May act by regulating AKT2, but not AKT1, phosphorylation at the plasma membrane (By similarity). Part of a signaling pathway that regulates actin cytoskeleton remodeling (PubMed:11739414, PubMed:12676785). Required for the maintenance and dynamic remodeling of actin structures as well as in endocytosis, having a major impact on ligand-induced EGFR internalization and degradation (PubMed:15668240). Participates in regulation of cortical and submembraneous actin by hydrolyzing PtdIns(3,4,5)P3 thereby regulating membrane ruffling (PubMed:21624956). Regulates cell adhesion and cell spreading (PubMed:12235291). Required for HGF-mediated lamellipodium formation, cell scattering and spreading (PubMed:15735664). Acts as a negative regulator of EPHA2 receptor endocytosis by inhibiting via PI3K-dependent Rac1 activation (PubMed:17135240). Acts as a regulator of neuritogenesis by regulating PtdIns(3,4,5)P3 level and is required to form an initial protrusive pattern, and later, maintain proper neurite outgrowth (By similarity). Acts as a negative regulator of the FC-gamma-RIIA receptor (FCGR2A) (PubMed:12690104). Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems (PubMed:11016922). Involved in EGF signaling pathway (PubMed:11349134). Upon stimulation by EGF, it is recruited by EGFR and dephosphorylates PtdIns(3,4,5)P3 (PubMed:11349134). Plays a negative role in regulating the PI3K-PKB pathway, possibly by inhibiting PKB activity (PubMed:11349134). Down-regulates Fc-gamma-R-mediated phagocytosis in macrophages independently of INPP5D/SHIP1 (By similarity). In macrophages, down-regulates NF-kappa-B-dependent gene transcription by regulating macrophage colony-stimulating factor (M-CSF)-induced signaling (By similarity). Plays a role in the localization of AURKA and NEDD9/HEF1 to the basolateral membrane at interphase in polarized cysts, thereby mediates cell cycle homeostasis, cell polarization and cilia assembly (By similarity). Additionally promotion of cilia growth is also facilitated by hydrolysis of (PtdIns(3,4,5)P3) to PtdIns(3,4)P2 (By similarity). Promotes formation of apical membrane-initiation sites during the initial stages of lumen formation via Rho family-induced actin filament organization and CTNNB1 localization to cell-cell contacts (By similarity). May also hydrolyze PtdIns(1,3,4,5)P4, and could thus affect the levels of the higher inositol polyphosphates like InsP6. Involved in endochondral ossification (PubMed:23273569)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Regulation of inositol 5-phosphatase activity by the C2 domain of SHIP1 and SHIP2., [RefSeq, PubMed]; The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009]., [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": 27, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RTX5;Q13577;Q13578", "ec_number_list": [ { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.64", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.1.134", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.134", "type": "external" }, { "id": "2.7.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.159", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" } ], "go_molecular_function": "GO:0003779 actin binding;GO:0017124 SH3 domain binding;GO:0042169 SH2 domain binding;GO:0004445 inositol-polyphosphate 5-phosphatase activity;GO:0034485 phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0030027 lamellipodium", "go_biological_process": "GO:0006897 endocytosis;GO:0007015 actin filament organization;GO:0007155 cell adhesion;GO:0050776 regulation of immune response;GO:0032880 regulation of protein localization", "synthesized_glycan_count": 0, "hit_score": 23.3, "record_id": "O15357-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14595-1", "uniprot_id": [ { "id": "CTDS2_HUMAN", "url": "https://www.uniprot.org/uniprot/O14595", "type": "external" } ], "mass": 30664.0, "length": 271, "protein_name": "Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2", "gene_name": "CTDSP2", "organism": "Human", "refseq_name": "carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2", "refseq_ac": [ { "id": "NP_005721", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005721", "type": "external" } ], "gene_names_uniprotkb": "CTDSP2; NIF2; OS4; SCP2", "gene_names_refseq": "CTDSP2; OS4; PSR2; SCP2", "protein_names_uniprotkb": "Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2; 3.1.3.16; NLI-interacting factor 2; Nuclear LIM interactor-interacting factor 2; Protein OS-4; SCP2; Small C-terminal domain phosphatase 2; Small CTD phosphatase 2", "protein_names_refseq": "CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2; NLI-interacting factor 2; carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2; conserved gene amplified in osteosarcoma; nuclear LIM interactor-interacting factor 2; protein OS-4; small C-terminal domain phosphatase 2; small CTD phosphatase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10106); (R-HSA-381038)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10601334;10827079;11237011;12204115;12721286;15466936;15681389;16461360;16539657;16724108;18058037;18664523;18991276;21282569;23186163;28832583;28904123;29093164;29242379;29314611;29393594;29557506;31154438;31530632;31774910;31844290;31848261;32157095;32357974;32938616;32983136;33592498;33968037;34357683;35051231;35251023;35580925;36284347;7590364;8666242;9037597;9315096;9450183;9473480", "class_list": "", "function": "Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane., [UniProtKB, UniProtKB, UniProtKB]; Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. May contribute to the development of sarcomas., [UniProtKB, PubMed, PubMed]; These results suggest that SCP2 is involved in promoter clearance during steroid-activated transcription., [RefSeq, PubMed]; Tumor suppressor properties of the small C-terminal domain phosphatases in non-small cell lung cancer., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "A8K5H4;Q53ZR2;Q6NZY3;Q9UEX1", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008420 RNA polymerase II CTD heptapeptide repeat phosphatase activity;GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005744 TIM23 mitochondrial import inner membrane translocase complex", "go_biological_process": "GO:0006470 protein dephosphorylation;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "O14595-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPY8-1", "uniprot_id": [ { "id": "MARE3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPY8", "type": "external" } ], "mass": 31982.0, "length": 281, "protein_name": "Microtubule-associated protein RP/EB family member 3", "gene_name": "MAPRE3", "organism": "Human", "refseq_name": "microtubule-associated protein RP/EB family member 3 isoform 1", "refseq_ac": [ { "id": "NP_001289979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289979", "type": "external" } ], "gene_names_uniprotkb": "MAPRE3", "gene_names_refseq": "EB3; EBF3-S; EBF3; MAPRE3; RP3", "protein_names_uniprotkb": "Microtubule-associated protein RP/EB family member 3; EB1 protein family member 3; EB3; EBF3; End-binding protein 3; RP3", "protein_names_refseq": "APC binding protein; EB1 protein family member 3; end-binding protein 3; microtubule-associated protein RP/EB family member 3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:22924); (R-HSA-9918485)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10188731;10644998;11161807;11237011;11337487;12682107;14514668;15098107;15507651;15838506;17322306;17563362;18266465;18491316;19146815;19255245;19696028;21646404;23084921;23186163;23658209;23712260;24074594;25217626;26056282;26212330;26468529;26992070;27832191;27920218;28446606;28514659;28814570;28832583;28834231;28904123;29242379;29557506;29610346;29742433;30524438;31154438;31530632;31720911;31844290;31848261;32157095;32387766;32897882;32938616;32983136;33968037;33981976;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36241641;38199479;9233623;9931503", "class_list": "", "function": "MAPRE3 as an epigenetic target of EZH2 restricts ovarian cancer proliferation in vitro and in vivo., [RefSeq, PubMed]; Neither APC nor p150glued binding domain is necessary for EB1 or EBF3 to induce microtubule bundling, [RefSeq, PubMed]; Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton (PubMed:19255245, PubMed:28814570). Promotes microtubule growth (PubMed:19255245, PubMed:28814570). May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes (PubMed:19255245, PubMed:28814570). Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:28814570). Promotes elongation of CAMSAP2-decorated microtubule stretches on the minus-end of microtubules (PubMed:28814570)., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [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, "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": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "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": "B7WPK5;O00265;Q6FHB0;Q6FI15;Q9BZP7;Q9BZP8", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0051010 microtubule plus-end binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0120283 protein serine/threonine kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0051233 spindle midzone;GO:0015630 microtubule cytoskeleton;GO:0005815 microtubule organizing center", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0051301 cell division;GO:0045893 positive regulation of DNA-templated transcription;GO:0031113 regulation of microtubule polymerization;GO:0048148 behavioral response to cocaine", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9UPY8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26368-1", "uniprot_id": [ { "id": "U2AF2_HUMAN", "url": "https://www.uniprot.org/uniprot/P26368", "type": "external" } ], "mass": 53501.0, "length": 475, "protein_name": "Splicing factor U2AF 65 kDa subunit", "gene_name": "U2AF2", "organism": "Human", "refseq_name": "splicing factor U2AF 65 kDa subunit isoform b", "refseq_ac": [ { "id": "NP_001012496", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012496", "type": "external" } ], "gene_names_uniprotkb": "U2AF2; U2AF65", "gene_names_refseq": "DEVDFB; U2AF2; U2AF65", "protein_names_uniprotkb": "Splicing factor U2AF 65 kDa subunit; U2 auxiliary factor 65 kDa subunit; U2 snRNP auxiliary factor large subunit; hU2AF(65); hU2AF65", "protein_names_refseq": "U2 (RNU2) small nuclear RNA auxiliary factor 2; U2 auxiliary factor 65 kDa subunit; U2 small nuclear ribonucleoprotein auxiliary factor (65kD); U2 snRNP auxiliary factor large subunit; hU2AF65; splicing factor U2AF 65 kDa subunit isoform b; splicing factor U2AF 65 kDa subunit", "tax_id": 9606, "disease": "developmental delay, dysmorphic facies, and brain anomalies (Disease Ontology:DOID:0060933)", "pathway": " (hsa:11338); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-9629569); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 293, "publication_id_list": "10228171;10323864;10449418;10449420;10489353;10668806;10669729;10882114;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11551507;11579093;11739738;11747608;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12477934;12718882;12871933;1378441;14519844;14625303;14654843;14713954;14749727;14762106;15009664;15037765;15084397;1538748;15565158;15676025;15998806;16314397;16314458;16809785;17000901;17024186;17081983;17095540;17128255;17190602;17287340;17322306;17332742;17589525;17606899;17924679;17947579;17984224;18288197;18322460;18364396;18411249;18423201;18452278;1856229;18578522;18593880;18669648;18767875;18957205;19103666;19165350;19217410;19413330;19470458;19536130;19574390;19608861;19641227;19651622;19819225;19836239;20068230;20068231;20129943;20166139;20423332;20573985;20684070;20695905;20844015;20980672;21060799;21295486;21406692;21460037;21536652;21536736;2176635;21911577;21947206;22110043;22121020;22207203;22223895;22365833;22813749;22851697;22893130;22928037;22959432;22961380;23103944;23186163;23222130;23236153;23299939;23303181;23345524;23826332;23874216;24076191;24100311;24149845;24196718;24244187;24275569;24304693;24448447;24486019;24550447;24550462;24550463;24715725;24737827;24914973;25218447;25301780;25301781;25555158;25576301;2558966;25662211;25728928;25836925;25880248;26092250;26154972;26385511;26420826;26969736;26992070;27108190;27377154;27459055;27600516;27683217;27720643;27846572;27862975;27920218;28062851;28063628;28076346;28096519;28228285;28467828;28502770;28510447;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29275860;29301961;29360106;29361316;29393594;29508533;29557506;29563586;29632711;2963332;29786170;29789417;29902443;29914368;29915238;30139799;30257008;30315122;30315277;30429286;30524438;30599162;30698747;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31409651;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32179686;32329775;32357974;32488085;32494006;32502341;32522876;32816001;32897882;32938616;33091337;33141586;33177556;33214551;33243851;33298915;33446560;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34112922;34171305;34185709;34211107;34301950;34725712;34822310;34932366;35051231;35083852;35138101;35177536;35215846;35318648;35385551;35580925;36010968;36040856;36241641;36284347;36581221;36635261;36747105;37092751;37217939;3757028;37938771;38665916;40914422;6688526;8566756;8608946;9016565;9237760;9242493;9447963;9512519;9524131;9539711;9618489;9659921;9660949;9671485;9701291;9731529", "class_list": "", "function": "All-Atom Simulations Elucidate the Impact of U2AF2 Cancer-Associated Mutations on Pre-mRNA Recognition., [RefSeq, PubMed]; Plays a role in pre-mRNA splicing and 3'-end processing (PubMed:17024186). By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing (PubMed:21536736). Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required for the export of mRNA out of the nucleus, even if the mRNA is encoded by an intron-less gene. Represses the splicing of MAPT/Tau exon 10. Positively regulates pre-mRNA 3'-end processing by recruiting the CFIm complex to cleavage and polyadenylation signals (PubMed:17024186)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The U2AF65/circNCAPG/RREB1 feedback loop promotes malignant phenotypes of glioma stem cells through activating the TGF-beta pathway. Publication Status: Online-Only, [RefSeq, PubMed]; U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": 7, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q96HC5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019899 enzyme binding;GO:0030628 pre-mRNA 3'-splice site binding;GO:0008187 poly-pyrimidine tract binding;GO:0070742 C2H2 zinc finger domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex;GO:0000243 commitment complex", "go_biological_process": "GO:0033120 positive regulation of RNA splicing;GO:0006397 mRNA processing;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0031397 negative regulation of protein ubiquitination;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 29.6, "record_id": "P26368-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y247-1", "uniprot_id": [ { "id": "FA50B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y247", "type": "external" } ], "mass": 38709.0, "length": 325, "protein_name": "Protein FAM50B", "gene_name": "FAM50B", "organism": "Human", "refseq_name": "protein FAM50B", "refseq_ac": [ { "id": "NP_036267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036267", "type": "external" } ], "gene_names_uniprotkb": "FAM50B; X5L", "gene_names_refseq": "D6S2654E; FAM50B; X5L", "protein_names_uniprotkb": "Protein FAM50B; Protein XAP-5-like", "protein_names_refseq": "XAP5 like; XAP5-like protein; protein FAM50B", "tax_id": 9606, "disease": "", "pathway": " (hsa:26240)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10534398;21593219;25576301;26154972;26768311;27846572;27920218;28063628;28218747;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29786170;30315122;30429286;31154438;33981976;35580925", "class_list": "", "function": "This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015]., [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": 7, "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": "Q5T2L6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9Y247-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06396-1", "uniprot_id": [ { "id": "GELS_HUMAN", "url": "https://www.uniprot.org/uniprot/P06396", "type": "external" } ], "mass": 85698.0, "length": 782, "protein_name": "Gelsolin", "gene_name": "GSN", "organism": "Human", "refseq_name": "gelsolin isoform a precursor", "refseq_ac": [ { "id": "NP_000168", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000168", "type": "external" } ], "gene_names_uniprotkb": "GSN", "gene_names_refseq": "ADF; AGEL; AMYLD4; GSN", "protein_names_uniprotkb": "Gelsolin; ADF; AGEL; Actin-depolymerizing factor; Brevin", "protein_names_refseq": "actin-depolymerizing factor; brevin; epididymis secretory sperm binding protein; gelsolin isoform a precursor", "tax_id": 9606, "disease": "Finnish type amyloidosis (Disease Ontology:DOID:0050637); pre-eclampsia (Disease Ontology:DOID:10591); hypothyroidism (Disease Ontology:DOID:1459); cerebral infarction (Disease Ontology:DOID:3526); myocardial infarction (Disease Ontology:DOID:5844); rheumatic myocarditis (Disease Ontology:DOID:8481); lung disease (Disease Ontology:DOID:850); gas gangrene (Disease Ontology:DOID:9159)", "pathway": " (hsa:2934); (R-HSA-264870); (R-HSA-6798695); (R-HSA-9662361); (R-HSA-977225)", "pathway_count": 5, "publication_count": 182, "publication_id_list": "10.1038/emboj.2013.79;10097139;10210201;10319874;10391242;10411933;10469173;10564664;10583407;10821263;10823823;10891503;10899937;10956649;11237011;11278841;11401442;11423904;11467836;11590439;11689006;118839;12454989;12460571;12665801;1270801;1338910;14506261;14567678;15064394;15962837;16174740;16466744;16799559;16959974;17425515;18065497;18070888;1837051;18449172;18484335;1849145;19011241;19531498;19658395;19666512;19828817;20068231;20393563;20676056;20807650;21081667;2118650;2153578;2157434;2176481;2195544;22065755;22131221;22869377;23009842;23186163;23328677;23584533;23650620;23783831;23813966;2409350;24833601;24893886;25523424;25645385;25802875;25880248;26018760;26154972;26375851;26417681;26668317;26686862;26758079;26807092;26992070;27397612;27452731;27600516;27726376;27846572;27862975;279930;28467828;28514659;28834231;2900981;29242379;29314611;29317506;29331515;29393594;29508533;29557506;29605689;29632711;29786170;29789417;3020431;3035556;30397120;30429286;30459171;3053705;3080684;3094007;31154438;3142462;31611695;31844290;31848261;32157095;32162841;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33043033;33091337;33392160;33592498;33717175;33912179;33968037;33981976;34019948;34078123;34171305;34357683;34509645;34561969;35008409;35051231;35154160;35251023;35318648;35459695;35580925;36215666;36240223;36241641;36284347;3675579;36967105;37120454;37938771;37958747;38216951;38253038;38373391;38665916;40596516;6092370;7489707;8033412;8097946;8114934;8159701;8395021;8464497;8490014;8599675;8692836;8703941;8870004;9003812;9006323;9054935;9323209;9624143;9862427;9930654", "class_list": "", "function": "Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed (PubMed:19666512). Plays a role in ciliogenesis (PubMed:20393563)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Gelsolin, an Actin-Binding Protein: Bioinformatic Analysis and Functional Significance in Urothelial Bladder Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; MTORC2 interactome and localization determine aggressiveness of high-grade glioma cells through association with gelsolin. Publication Status: Online-Only, [RefSeq, PubMed]; Proteomic Analysis Identifies GSN as a Noninvasive Circulating Serum Biomarker for Predicting Early Recurrence of Hepatocellular Carcinoma., [RefSeq, PubMed]; Role and therapeutic potential of gelsolin in atherosclerosis. Review article, [RefSeq, PubMed]; The protein encoded by this gene binds to the 'plus' ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The regulation of plasma gelsolin by DNA methylation in ovarian cancer chemo-resistance. 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, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 9, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 8, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A2A418;A8MUD1;A8MYN7;B7Z373;B7Z5V1;F5H1A8;Q5T0I2;Q8WVV7", "ec_number_list": [], "go_molecular_function": "GO:0045159 myosin II binding;GO:0003779 actin binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0051015 actin filament binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0014891 striated muscle atrophy;GO:0097017 renal protein absorption;GO:1902174 positive regulation of keratinocyte apoptotic process;GO:1903903 regulation of establishment of T cell polarity;GO:1903906 regulation of plasma membrane raft polarization", "synthesized_glycan_count": 0, "hit_score": 19.9, "record_id": "P06396-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14686-1", "uniprot_id": [ { "id": "KMT2D_HUMAN", "url": "https://www.uniprot.org/uniprot/O14686", "type": "external" } ], "mass": 593389.0, "length": 5537, "protein_name": "Histone-lysine N-methyltransferase 2D", "gene_name": "KMT2D", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase 2D", "refseq_ac": [ { "id": "NP_003473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003473", "type": "external" } ], "gene_names_uniprotkb": "KMT2D; ALR; MLL2; MLL4", "gene_names_refseq": "AAD10; ALR; BCAHH; CAGL114; KABUK1; KMS; KMT2D; MLL2; MLL4; TNRC21", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase 2D; 2.1.1.364; ALL1-related protein; Lysine N-methyltransferase 2D; Myeloid/lymphoid or mixed-lineage leukemia protein 2", "protein_names_refseq": "ALL1-related protein; Kabuki make-up syndrome; histone-lysine N-methyltransferase 2D; histone-lysine N-methyltransferase MLL2; lysine (K)-specific methyltransferase 2D; lysine N-methyltransferase 2D; myeloid/lymphoid or mixed-lineage leukemia 2; trinucleotide repeat containing 21", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); Kabuki syndrome (Disease Ontology:DOID:0060473); Kleefstra syndrome 2 (Disease Ontology:DOID:0080598); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); intracranial aneurysm (Disease Ontology:DOID:10941); colon carcinoma (Disease Ontology:DOID:1520); breast cancer (Disease Ontology:DOID:1612); congenital heart disease (Disease Ontology:DOID:1682); breast carcinoma (Disease Ontology:DOID:3459); meningioma (Disease Ontology:DOID:3565); gastric adenocarcinoma (Disease Ontology:DOID:3717); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); papillary thyroid carcinoma (Disease Ontology:DOID:3969); lung small cell carcinoma (Disease Ontology:DOID:5409); primary ovarian insufficiency (Disease Ontology:DOID:5426); gastrointestinal lymphoma (Disease Ontology:DOID:903); choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome (MONDO:MONDO:0035651)", "pathway": " (hsa:8085); (R-HSA-3214841); (R-HSA-5617472); (R-HSA-8936459); (R-HSA-9772755); (R-HSA-9818564); (R-HSA-9841922); (R-HSA-9944997)", "pathway_count": 8, "publication_count": 286, "publication_id_list": "10425206;10558993;10617663;10777502;10835357;10882139;10949293;11027271;11237011;11959841;12123582;12130538;12393701;12453418;12482968;12482972;12483298;12540855;12576332;12670868;12829629;1310260;14536086;14636557;14690610;14992727;15145825;15199122;15235609;15867264;15964846;16079151;16118227;16199523;16227571;16239140;16292313;16380219;16519522;16549775;16603732;16628190;16682010;16805913;16829959;16878130;16892064;17021013;17081983;17185360;17322306;17355966;17428788;17500065;17525332;17544230;1756725;17612494;17660710;17671196;17707229;17713478;17761849;17761950;17851529;17925232;17998332;18172012;18220336;18316480;18452278;18598942;18669648;18767875;18781158;18829457;18829459;18838386;18838538;19043829;19103755;19114653;19115252;19124460;19172745;19187761;19232136;19413330;19509293;19556245;19608861;19651622;19664994;19664995;19690332;19747919;1975088;19782034;19808676;19854132;20018852;20058876;20068231;20085832;20339092;20575550;20711175;20716525;20876458;20961854;21106533;21124902;21129147;21131905;21131967;21135039;21196496;21220120;21252065;21280141;21406692;21607748;21658225;21671394;21725049;21779408;21832073;22099308;22126750;22266653;22327296;22424782;22569366;22652693;22665483;22705304;22706990;22777353;22879880;22898188;22939622;23186163;23219899;23301498;23320472;23481700;23508102;23534758;23630040;23913813;23995757;24129315;24174538;24244196;24275569;24312487;24368734;24586203;24680668;24714562;24715725;24739679;25101834;25135475;25218447;25418920;25561738;25576301;25593305;25645385;2570724;25913784;26010396;26324722;26375851;26886794;26992070;27563068;27698142;27760318;27846572;27862975;28182322;28228285;28398509;28649982;28657654;28832583;28904123;29138278;29242379;29351928;29393594;29508533;29557506;29632711;29897600;29937342;30059200;30107592;30192525;30315122;30418433;30429286;30524438;30620550;31154438;31217245;31400120;31485071;31492838;31544921;31844290;31846209;31848261;31949313;31998317;32083401;32157095;32161166;32203228;32265295;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32983136;33298915;33329381;33592498;33657400;33717175;33912179;33936100;33968037;34012049;34087483;34171305;34405274;34433824;34509645;34846842;34933446;35033534;35051231;35060672;35138101;35154160;35190547;35254053;35289036;35439434;35494241;35513511;35580925;35705054;36010968;36284347;37541260;38838015;39025450;39060071;39117659;39302247;39531497;39534244;40307207;7488013;7501971;7831296;7906964;7908827;8521497;8521498;8674428;8759021;9065481;9171241;9218805;9247308;9272954;9482740;9744270", "class_list": "", "function": "Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) (PubMed:25561738). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:17500065, PubMed:25561738). Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription (PubMed:16603732)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Histone-methyltransferase KMT2D deficiency impairs the Fanconi anemia/BRCA pathway upon glycolytic inhibition in squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Lysine Methyltransferase 2D Regulates Immune Response and Metastasis in Head and Neck Cancer., [RefSeq, PubMed]; The histone methyltransferase KMT2D maintains cellular glucocorticoid responsiveness by shielding the glucocorticoid receptor from degradation., [RefSeq, PubMed]; The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]., [RefSeq]", "predicted_glycosites": 12, "predicted_n_glycosites": 0, "predicted_o_glycosites": 12, "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": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 62, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 463, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 20, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "O14687", "ec_number_list": [ { "id": "1.14.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.1", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.34", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "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": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.4", "type": "external" }, { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.1.1.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.85", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "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": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "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": "2.1.1.370", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.370", "type": "external" }, { "id": "2.1.1.371", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.371", "type": "external" }, { "id": "6.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.1", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" }, { "id": "2.1.1.354", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.354", "type": "external" }, { "id": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.3.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.15", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" }, { "id": "2.1.1.355", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.355", "type": "external" }, { "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": "2.3.1.199", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.199", "type": "external" }, { "id": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0042800 histone H3K4 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0044666 MLL3/4 complex;GO:0035097 histone methyltransferase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0043627 response to estrogen", "synthesized_glycan_count": 0, "hit_score": 29.7, "record_id": "O14686-1", "record_type": "protein", "filter_code": "0000000.1100111.000100.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15259-1", "uniprot_id": [ { "id": "NPHP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15259", "type": "external" } ], "mass": 83299.0, "length": 732, "protein_name": "Nephrocystin-1", "gene_name": "NPHP1", "organism": "Human", "refseq_name": "nephrocystin-1 isoform 3", "refseq_ac": [ { "id": "NP_001121650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121650", "type": "external" } ], "gene_names_uniprotkb": "NPHP1; NPH1", "gene_names_refseq": "JBTS4; NPH1; NPHP1; SLSN1", "protein_names_uniprotkb": "Nephrocystin-1; Juvenile nephronophthisis 1 protein", "protein_names_refseq": "juvenile nephronophthisis 1 protein; nephrocystin-1 isoform 3; nephronophthisis 1 (juvenile)", "tax_id": 9606, "disease": "Senior-Loken syndrome (Disease Ontology:DOID:0050576); Senior-Loken syndrome 1 (Disease Ontology:DOID:0061277); Joubert syndrome 4 (Disease Ontology:DOID:0110999); nephronophthisis 1 (Disease Ontology:DOID:0111112); nephronophthisis (Disease Ontology:DOID:12712); Bardet-Biedl syndrome (Disease Ontology:DOID:1935)", "pathway": " (hsa:4867); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10839884;11237011;12244321;12872122;12872123;15138899;15723349;16308564;16357211;16885411;17574030;17646400;17719545;18037885;18477472;18633336;18694559;18801063;19004860;19081074;19940019;20230748;20308558;20399632;20558667;20856870;21273506;21357692;21422230;21548880;21565611;21620453;21633164;21725307;21792235;22179047;22433857;22653444;22701722;23141531;23141541;23253480;23348840;23400999;23530209;23747070;23769972;23789104;24053599;24089205;24231678;24469809;24715725;24746959;24982133;25047611;25313408;25576301;26477546;26992070;27600516;27846572;28228285;28832583;28834231;28904123;30379171;30429286;31844290;31848261;32157095;32387766;32897882;32938616;33592498;33912179;33968037;33981976;34509645;35051231;35494241;35580925;36284347;36942623;36948406;38293987;39894887;9326933;9361039;9856524", "class_list": "", "function": "A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor., [RefSeq, PubMed]; Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion., [RefSeq, PubMed]; This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling (By similarity). May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development (By similarity). In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity)., [UniProtKB, UniProtKB]; [C/EBPbeta mediates expressions of downstream inflammatory factors of the tumor necrosis factor-alpha signaling pathway in renal tubular epithelial cells with NPHP1 knockdown]., [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": 15, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 3, "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": "O14837", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005911 cell-cell junction;GO:0005912 adherens junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0007165 signal transduction;GO:0030036 actin cytoskeleton organization;GO:0098609 cell-cell adhesion;GO:0060041 retina development in camera-type eye;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "O15259-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12757-1", "uniprot_id": [ { "id": "SKIL_HUMAN", "url": "https://www.uniprot.org/uniprot/P12757", "type": "external" } ], "mass": 76976.0, "length": 684, "protein_name": "Ski-like protein", "gene_name": "SKIL", "organism": "Human", "refseq_name": "ski-like protein isoform 2", "refseq_ac": [ { "id": "NP_001138569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569", "type": "external" } ], "gene_names_uniprotkb": "SKIL; SNO", "gene_names_refseq": "SKIL; SNO; SnoA; SnoI; SnoN", "protein_names_uniprotkb": "Ski-like protein; Ski-related oncogene; Ski-related protein", "protein_names_refseq": "SKI-like oncogene; ski-like protein isoform 2; ski-like protein; ski-related oncogene snoN", "tax_id": 9606, "disease": "ureteral obstruction (Disease Ontology:DOID:5199)", "pathway": " (hsa:6498); (R-HSA-2173795)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10197981;10199400;10485843;10531062;10535941;10549282;10587642;10587654;11237011;11389444;11427533;15221015;15820681;16156666;16751101;16751102;17438144;17510063;17591695;17592128;18568018;19135894;19413330;19917253;20068231;20934997;21095583;22045334;22299025;23186163;25576301;25755297;25892735;26992070;27153775;2762147;27846572;27920218;28228285;28904123;29242379;29331515;29557506;29577978;29769354;29786170;30315122;30379171;30429286;30484775;31154438;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32938616;32983136;33141586;33268765;33298915;33592498;33717175;33912179;33968037;33981976;34087483;34171305;35051231;35136033;35254053;35289036;35318648;35580925;36010968;36215666;36241641;37389959;37938771;39302247;39531497;8233802;9207045", "class_list": "", "function": "ATAD3B and SKIL polymorphisms associated with antipsychotic-induced QTc interval change in patients with schizophrenia: a genome-wide association study. Publication Status: Online-Only, [RefSeq, PubMed]; May have regulatory role in cell division or differentiation in response to extracellular signals., [UniProtKB]; SKIL facilitates tumorigenesis and immune escape of NSCLC via upregulating TAZ/autophagy axis. Publication Status: Online-Only, [RefSeq, PubMed]; SKIL/SnoN attenuates TGF-beta1/SMAD signaling-dependent collagen synthesis in hepatic fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NGT1;B4DT50;O00464;P12756;Q07501", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0001669 acrosomal vesicle;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0030514 negative regulation of BMP signaling pathway;GO:0034097 response to cytokine;GO:0046677 response to antibiotic", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "P12757-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75934-1", "uniprot_id": [ { "id": "SPF27_HUMAN", "url": "https://www.uniprot.org/uniprot/O75934", "type": "external" } ], "mass": 26131.0, "length": 225, "protein_name": "Pre-mRNA-splicing factor SPF27", "gene_name": "BCAS2", "organism": "Human", "refseq_name": "pre-mRNA-splicing factor SPF27", "refseq_ac": [ { "id": "NP_005863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005863", "type": "external" } ], "gene_names_uniprotkb": "BCAS2; DAM1", "gene_names_refseq": "BCAS2; DAM1; SPF27; Snt309", "protein_names_uniprotkb": "Pre-mRNA-splicing factor SPF27; Breast carcinoma-amplified sequence 2; DNA amplified in mammary carcinoma 1 protein; Spliceosome-associated protein SPF 27", "protein_names_refseq": "DNA amplified in mammary carcinoma 1 protein; breast carcinoma amplified sequence 2; pre-mRNA-splicing factor SPF27; spliceosome associated protein, amplified in breast cancer; spliceosome-associated protein SPF 27", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612)", "pathway": " (hsa:10286); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 167, "publication_id_list": "10403562;10882114;11014198;11101529;11233976;11747608;11991638;12169396;12176931;12411573;12414731;12429849;12477934;14519844;14625303;14713954;14762106;15084397;16314458;16809785;16959974;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;20068231;20176811;20423332;20980672;21536652;2176635;21911577;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23301498;23345524;24196718;24304693;24332808;24366607;24448447;24714562;24737827;24914973;25418920;25469497;25555158;25576301;2558966;25645385;25802875;26092250;26154972;26375851;26385511;26420826;26969736;26992070;27108190;27377154;27459055;27600516;27683217;27846572;27920218;28062851;28076346;28218747;28228285;28502770;28510447;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29437277;29493099;29508533;29557506;2963332;29786170;29902443;30315122;30315277;30429286;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31409651;31530632;31844290;32157095;32161166;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33177556;33214551;33243851;33446560;33465208;33537174;33592498;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34301950;34357683;34822310;34932366;35051231;35154160;35215846;35318648;35385551;35580925;36010968;36215666;36284347;37217939;37248466;3757028;37938771;39894887;40596516;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "BCAS2 regulates granulosa cell survival by participating in mRNA alternative splicing. Publication Status: Online-Only, [RefSeq, PubMed]; Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:28076346, PubMed:28502770, PubMed:29301961, PubMed:29360106, PubMed:30705154). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The BCAS2 gene was amplified in two of 60 primary breast cancer tissues, but not in other cancer cells, providing the first evidence of amplification within this region and indicating that BCAS2 gene codes for a nuclear protein., [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "Q6FGS0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "O75934-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07288-1", "uniprot_id": [ { "id": "KLK3_HUMAN", "url": "https://www.uniprot.org/uniprot/P07288", "type": "external" } ], "mass": 28741.0, "length": 261, "protein_name": "Prostate-specific antigen", "gene_name": "KLK3", "organism": "Human", "refseq_name": "prostate-specific antigen isoform 3 preproprotein", "refseq_ac": [ { "id": "NP_001025218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025218", "type": "external" } ], "gene_names_uniprotkb": "KLK3; APS", "gene_names_refseq": "APS; KLK2A1; KLK3; PSA; hK3", "protein_names_uniprotkb": "Prostate-specific antigen; 3.4.21.77; Gamma-seminoprotein; Kallikrein-3; P-30 antigen; PSA; Semenogelase; Seminin", "protein_names_refseq": "P-30 antigen; gamma-seminoprotein; kallikrein-3; prostate-specific antigen isoform 3 preproprotein; prostate-specific antigen; semenogelase; seminin", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); breast cancer (Disease Ontology:DOID:1612); pancreatitis (Disease Ontology:DOID:4989)", "pathway": " (hsa:354); (R-HSA-381426); (R-HSA-5625886)", "pathway_count": 3, "publication_count": 150, "publication_id_list": "10.1016/j.talanta.2020.121495;10026136;10077652;10218588;10512690;10614670;10681634;10799919;10810289;10898936;10912521;10951195;10990447;11054574;11158056;11237011;11250653;11264294;11316783;11325845;11516759;11522292;11606061;11739083;11751371;11788658;11801539;12021103;12070713;12124806;12241545;12379487;12466191;12514133;12731068;12783216;12810533;12904166;12949939;1370451;1383255;15126567;15308688;15340161;15375382;15378520;15469690;15485880;15525596;15642270;15651071;16000955;16000958;16079795;16141246;16203785;16283303;16603238;16912206;17047378;17249697;1725227;17312271;17440952;17956937;17985932;18066052;18077418;18187150;19020110;19171173;19307781;19483644;20128819;20878951;21253471;21263453;21874303;21982682;22576344;23842001;2422647;2436946;24393138;2456523;2466464;2467258;2470373;2471958;2472789;2476804;2479552;24992895;25111463;25327667;26022737;26091039;26289091;26319744;27703488;27891225;28188670;28416261;28622427;29557506;29789417;32236612;33167210;33437477;33618028;34509645;35051231;35251023;3691515;36995990;37592324;37713321;37806532;38111134;7519608;7523391;7525263;7525634;7525824;7527295;7527330;7535613;7538844;7543116;7588299;7683646;7689487;8677566;8781553;8817670;8894645;8964575;9048833;9051144;9105257;9457311;9497324;9521101;9709957;9733769;9743387;9751643;9786878;9822272;9922210", "class_list": "", "function": "Association of Kallikrein Related Peptidase 3 (KLK3) gene with dermatophytosis in the UK biobank cohort., [RefSeq, PubMed]; Hydrolyzes semenogelin-1 thus leading to the liquefaction of the seminal coagulum., [UniProtKB]; Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. It encodes a single-chain glycoprotein, a protease which is synthesized in the epithelial cells of the prostate gland, and is present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. The serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]., [RefSeq]; Ki67 and prostate specific antigen are prognostic in metastatic hormone naive prostate cancer., [RefSeq, PubMed]; Prostate-specific antigen: An unfamiliar protein in the human salivary glands., [RefSeq, PubMed]; RNA-binding protein 14 promotes phase separation to sustain prostate specific antigen expression under androgen deprivation in human prostate cancer., [RefSeq, PubMed]; The effect of encomir-93 mimic transfection on the expression of miR-93 and PSA and androgen receptor in prostate cancer LNcap cell line. 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": 2, "mined_n_glycosites": 1, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 17, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 193, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "C9JXH3;G3V0H4;G3XAE3;Q15096;Q16272;Q86TG8;Q8IXI4", "ec_number_list": [ { "id": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" }, { "id": "3.4.21.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.77", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0030141 secretory granule;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0016525 negative regulation of angiogenesis;GO:0003073 regulation of systemic arterial blood pressure;GO:0031638 zymogen activation;GO:0002803 positive regulation of antibacterial peptide production", "synthesized_glycan_count": 0, "hit_score": 34.6, "record_id": "P07288-1", "record_type": "protein", "filter_code": "1000000.1000111.100000.000000000001000000.1100110000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60504-1", "uniprot_id": [ { "id": "VINEX_HUMAN", "url": "https://www.uniprot.org/uniprot/O60504", "type": "external" } ], "mass": 75341.0, "length": 671, "protein_name": "Vinexin", "gene_name": "SORBS3", "organism": "Human", "refseq_name": "vinexin isoform 2", "refseq_ac": [ { "id": "NP_001018003", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018003", "type": "external" } ], "gene_names_uniprotkb": "SORBS3; SCAM1", "gene_names_refseq": "SCAM-1; SCAM1; SH3D4; SORBS3", "protein_names_uniprotkb": "Vinexin; SCAM-1; SH3-containing adapter molecule 1; Sorbin and SH3 domain-containing protein 3", "protein_names_refseq": "sorbin and SH3 domain-containing protein 3; vinexin beta (SH3-containing adaptor molecule-1); vinexin isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10174); (R-HSA-445355)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "10585480;10991994;11237011;11242081;11457814;11532985;11889009;12048254;12510380;12660241;14506282;14627618;15184391;15242778;15302935;15377279;156362;16302969;16831423;16964243;17055381;17081983;17322306;18220336;18452278;18662323;18669648;18691976;18767875;18974361;1930128;19380584;19413330;19415658;19651622;19664994;19664995;19690332;19807924;20068231;21406692;22028470;22223895;22421042;22778174;23186163;23834404;24275569;24872348;2526655;26362469;2764880;27679490;28741090;28832583;29242379;29331515;29393594;29557506;30059200;30192525;30379171;30429286;31154438;31844290;31848261;32157095;32488085;32983136;33592498;33968037;34848853;35051231;35580925;35822241;36010968;36580660;3780718;38816989;40596516;8858389;9481611;9598563;9600334;9855623;9885244", "class_list": "", "function": "Increased SORBS3 expression in brain ageing contributes to autophagic decline via YAP1-WWTR1/TAZ signaling., [RefSeq, PubMed]; Regulates cytoskeletal organization and signal transduction--review Review article, [RefSeq, PubMed]; This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; UBE2T mediates SORBS3 ubiquitination to enhance IL-6/STAT3 signaling and promote lung adenocarcinoma progression., [RefSeq, PubMed]; Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its third SH3 domain., [UniProtKB]; Vinexin contributes to autophagic decline in brain ageing across species., [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": 24, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 8, "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": "Q5BJE4;Q6NX54;Q96FY4;Q9UQE4", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0030674 protein-macromolecule adaptor activity;GO:0017166 vinculin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0051495 positive regulation of cytoskeleton organization;GO:0007155 cell adhesion;GO:0007010 cytoskeleton organization;GO:0051496 positive regulation of stress fiber assembly;GO:0031589 cell-substrate adhesion", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "O60504-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99757-1", "uniprot_id": [ { "id": "THIOM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99757", "type": "external" } ], "mass": 18383.0, "length": 166, "protein_name": "Thioredoxin, mitochondrial", "gene_name": "TXN2", "organism": "Human", "refseq_name": "thioredoxin, mitochondrial precursor", "refseq_ac": [ { "id": "NP_036605", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036605", "type": "external" } ], "gene_names_uniprotkb": "TXN2; TRX2", "gene_names_refseq": "COXPD29; MT-TRX; MTRX; TRX2; TXN2; TXN", "protein_names_uniprotkb": "Thioredoxin, mitochondrial; MTRX; Mt-Trx; Thioredoxin-2", "protein_names_refseq": "mitochondrial thioredoxin; thioredoxin, mitochondrial precursor; thioredoxin, mitochondrial", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 29 (Disease Ontology:DOID:0111501)", "pathway": " (hsa:25828); (R-HSA-1614558); (R-HSA-3299685)", "pathway_count": 3, "publication_count": 120, "publication_id_list": "10029572;10212249;10514471;10521424;10656833;10833429;10919671;10982;11018045;11139407;11237011;11507097;11518528;11886899;11912930;12032145;12080052;12446202;12829378;12871026;15044467;15046979;15064408;15280035;15317809;15596429;15927447;16195549;16401067;16424062;16615992;1668270;16750198;16880213;17135237;17275676;17519234;17581819;1763037;17707404;18358825;18477386;18703498;18872649;18936159;19219623;19261609;19542232;19608861;19625201;19892738;1999334;20070187;20367259;20690882;2071038;21215271;21385867;21393238;21967640;22493009;22718265;22869735;22910329;23038267;23152058;23164639;23413359;23454490;23455484;23481700;236774;23698001;25047527;26327310;26437775;26626369;27484215;27920218;28412453;28832583;28904123;29055825;29372909;29557506;30524438;31844290;32156684;32350084;32502341;32920833;32983136;33763469;33981976;3457020;34688818;3532102;3619451;36241641;3693360;38003443;5389100;60;6286671;6961438;7021796;7172448;7487923;807573;8379940;8428933;8452552;8663465;9070219;9295278;9369223;9537447;9639555;9726962;9923614", "class_list": "", "function": "Association between genetic variants in oxidative stress-related genes and osteoporotic bone fracture. The Hortega follow-up study., [RefSeq, PubMed]; Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability (PubMed:12032145, PubMed:12080052, PubMed:26626369) Is involved in various redox reactions including the reduction of protein disulfide bonds, through the reversible oxidation of its active center dithiol to a disulfide (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; MT-TRX has a role in the regulation of the mitochondrial membrane potential and cell death, [RefSeq, PubMed]; Mechanisms of Trx2/ASK1-Mediated Mitochondrial Injury in Pemphigus Vulgaris. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial TXN2 attenuates amyloidogenesis via selective inhibition of BACE1 expression., [RefSeq, PubMed]; Mitochondrial thioredoxin may play important roles in protection against oxidant-induced apoptosis, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; ScAAV2-Mediated Expression of Thioredoxin 2 and C3 Transferase Prevents Retinal Ganglion Cell Death and Lowers Intraocular Pressure in a Mouse Model of Glaucoma. Publication Status: Online-Only, [RefSeq, PubMed]; This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [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, "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": 0, "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": "Q5JZA0;Q6FH60;Q9UH29", "ec_number_list": [], "go_molecular_function": "GO:0015035 protein-disulfide reductase activity;GO:0016671 oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0045454 cell redox homeostasis;GO:0000098 sulfur amino acid catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q99757-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95433-1", "uniprot_id": [ { "id": "AHSA1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95433", "type": "external" } ], "mass": 38274.0, "length": 338, "protein_name": "Activator of 90 kDa heat shock protein ATPase homolog 1", "gene_name": "AHSA1", "organism": "Human", "refseq_name": "activator of 90 kDa heat shock protein ATPase homolog 1 isoform 2", "refseq_ac": [ { "id": "NP_001308370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308370", "type": "external" } ], "gene_names_uniprotkb": "AHSA1; C14orf3; HSPC322", "gene_names_refseq": "AHA1; AHSA1; C14orf3; hAha1; p38", "protein_names_uniprotkb": "Activator of 90 kDa heat shock protein ATPase homolog 1; AHA1; p38", "protein_names_refseq": "AHA1, activator of heat shock 90kDa protein ATPase homolog 1; activator of 90 kDa heat shock protein ATPase homolog 1 isoform 2; activator of 90 kDa heat shock protein ATPase homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10598)", "pathway_count": 1, "publication_count": 101, "publication_id_list": "10931946;11237011;11554768;12504007;12604615;16696853;17110338;19240134;19608861;20068231;21406692;22869377;23186163;23301498;23481700;24714562;24715725;25114211;25418920;25576301;25645385;25802875;25810538;25892735;26154972;26235616;26375851;26693507;26728094;26811146;26992070;27353360;27600516;27846572;27862975;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29127155;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30524438;30779550;30833945;31154438;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34185709;34229054;34509645;34725712;34932366;35051231;35318648;35561310;35580925;35757728;36010968;36241641;36284347;36520307;37486705;37938771;38665916;38937628;40914422", "class_list": "", "function": "Acts as a co-chaperone of HSP90AA1 (PubMed:29127155). Activates the ATPase activity of HSP90AA1 leading to increase in its chaperone activity (PubMed:29127155). Competes with the inhibitory co-chaperone FNIP1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:27353360). Competes with the inhibitory co-chaperone TSC1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155)., [UniProtKB, PubMed, PubMed]; Hsp90 cochaperones modulate Hsp90-dependent stability of CFTR protein folding in the endoplasmic reticulum, [RefSeq, PubMed]; Human Aha1's N-terminal extension confers it holdase activity in vitro., [RefSeq, PubMed]; P23 and Aha1: Distinct Functions Promote Client Maturation. Review article, [RefSeq, PubMed]; Recruitment of Ahsa1 to Hsp90 is regulated by a conserved peptide that inhibits ATPase stimulation., [RefSeq, PubMed]; Stimulates the inherent ATPase activity of Hsp90, [RefSeq, PubMed]; The Prognostic and Immunotherapeutic Significance of AHSA1 in Pan-Cancer, and Its Relationship With the Proliferation and Metastasis of Hepatocellular Carcinoma. 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, "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": 11, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "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": "B2R9L2;B4DUR9;Q96IL6;Q9P060", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0045296 cadherin binding;GO:0001671 ATPase activator activity;GO:0051879 Hsp90 protein binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006457 protein folding;GO:0032781 positive regulation of ATP-dependent activity;GO:0036506 maintenance of unfolded protein", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "O95433-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96B26-1", "uniprot_id": [ { "id": "EXOS8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96B26", "type": "external" } ], "mass": 30040.0, "length": 276, "protein_name": "Exosome complex component RRP43", "gene_name": "EXOSC8", "organism": "Human", "refseq_name": "exosome complex component RRP43", "refseq_ac": [ { "id": "NP_852480", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852480", "type": "external" } ], "gene_names_uniprotkb": "EXOSC8; OIP2; RRP43", "gene_names_refseq": "CIP3; EAP2; EXOSC8; OIP2; PCH1C; RRP43; Rrp43p; bA421P11.3; p9", "protein_names_uniprotkb": "Exosome complex component RRP43; Exosome component 8; OIP-2; Opa-interacting protein 2; Ribosomal RNA-processing protein 43; p9", "protein_names_refseq": "CBP-interacting protein 3; OIP-2; Opa interacting protein 2; exosome complex component RRP43; exosome complex exonuclease RRP43; ribosomal RNA-processing protein 43", "tax_id": 9606, "disease": "pontocerebellar hypoplasia type 1C (Disease Ontology:DOID:0112334)", "pathway": " (hsa:11340); (R-HSA-380994); (R-HSA-429958); (R-HSA-450385); (R-HSA-450513); (R-HSA-450604); (R-HSA-6791226); (R-HSA-9930044)", "pathway_count": 8, "publication_count": 176, "publication_id_list": "10.1101/2023.09.13.557529;10330172;10958673;11237011;11283721;11719186;11922599;11929972;12068309;12150911;12198173;12324455;12419256;12639954;12646273;12705825;12748283;14688255;14742429;14749774;14976220;15014438;15068804;15117938;15175153;15231747;15273322;15385533;15475613;15514971;15538381;15687258;15769464;15944294;16037817;16043514;16141059;16262601;16364914;16648466;16687408;16738141;16912112;16912217;16931790;16989641;17030608;17133347;17174896;17189298;17245413;17353269;17369404;17412707;17545563;18065403;18285520;18326031;18367721;18438418;18441014;18481987;18684992;18840095;19060886;19106111;19141871;19198587;19225159;19239894;19332556;19564402;19729507;19801658;19854161;20022965;20038530;20056613;20361218;20531386;20531389;20798176;20805244;20819938;21036871;21063389;21097556;21705430;21855801;21872626;22072790;22190735;22195017;22424782;22645359;22802018;22819556;22916032;22978410;23223233;23269699;23439679;23481700;23482395;2388630;24424021;24550520;24714562;24989451;25418920;25525153;25578728;25969445;26237581;26375851;2663993;2664463;26728094;26992070;27434818;27600516;27862975;27871484;28218747;28228285;28510447;28649982;28832583;28834231;28855257;29242379;29298432;29413899;29437277;29493099;29557506;29786170;29789417;29906447;30315122;30410026;31154438;31217245;31530632;31844290;31950173;31998317;32157095;32357974;32387766;32488085;3260265;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33717175;33767452;33912179;33913806;33936100;33968037;34509645;35051231;35561310;35580925;36348012;37875486;37938771;38017281;40914422;9466265;9482744", "class_list": "", "function": "A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C., [RefSeq, PubMed]; A protein subunit of human RNase P, Rpp14, and its interacting partner, OIP2, have 3'-->5' exoribonuclease activity., [RefSeq, PubMed]; EXOSC8 promotes colorectal cancer tumorigenesis via regulating ribosome biogenesis-related processes., [RefSeq, PubMed]; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC8 binds to ARE-containing RNAs., [UniProtKB, PubMed, PubMed]; Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring., [RefSeq, PubMed]; This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 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, "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O43480;Q5TBA5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0035925 mRNA 3'-UTR AU-rich region binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071028 nuclear mRNA surveillance;GO:0034473 U1 snRNA 3'-end processing;GO:0034476 U5 snRNA 3'-end processing;GO:0006396 RNA processing;GO:0016075 rRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "Q96B26-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VDD7-1", "uniprot_id": [ { "id": "BRME1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VDD7", "type": "external" } ], "mass": 69556.0, "length": 668, "protein_name": "Break repair meiotic recombinase recruitment factor 1", "gene_name": "BRME1", "organism": "Human", "refseq_name": "break repair meiotic recombinase recruitment factor 1 isoform 3", "refseq_ac": [ { "id": "NP_077299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077299", "type": "external" } ], "gene_names_uniprotkb": "BRME1; C19orf57", "gene_names_refseq": "BRME1; C19orf57; MEIOK21", "protein_names_uniprotkb": "Break repair meiotic recombinase recruitment factor 1; Pre-T/NK cell-associated protein 3B3", "protein_names_refseq": "BRCA2 and MEILB2-associating protein 1; break repair meiotic recombinase recruitment factor 1 isoform 3; meiosis-specific 4930432K21RIK; pre-T/NK cell associated protein (3B3); uncharacterized protein C19orf57", "tax_id": 9606, "disease": "", "pathway": " (hsa:79173)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;19690332;23186163;31530632;32488085;35051231;40307207;8228263", "class_list": "", "function": "Meiotic recombination factor component of recombination bridges involved in meiotic double-strand break repair. Modulates the localization of recombinases DMC1:RAD51 to meiotic double-strand break (DSB) sites through the interaction with and stabilization of the BRCA2:HSF2BP complex during meiotic recombination. Indispensable for the DSB repair, homologous synapsis, and crossover formation that are needed for progression past metaphase I, is essential for spermatogenesis and male fertility., [UniProtKB, UniProtKB]", "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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "Q13411;Q8N825;Q96D63;Q9BU49", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005694 chromosome", "go_biological_process": "GO:0007144 female meiosis I;GO:0007283 spermatogenesis;GO:1990918 double-strand break repair involved in meiotic recombination", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q0VDD7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11308-4", "uniprot_id": [ { "id": "ERG_HUMAN", "url": "https://www.uniprot.org/uniprot/P11308", "type": "external" } ], "mass": 53838.0, "length": 479, "protein_name": "Transcriptional regulator ERG", "gene_name": "ERG", "organism": "Human", "refseq_name": "transcriptional regulator ERG isoform 3", "refseq_ac": [ { "id": "NP_001129626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129626", "type": "external" } ], "gene_names_uniprotkb": "ERG", "gene_names_refseq": "ERG; LMPHM14; erg-3; p55", "protein_names_uniprotkb": "Transcriptional regulator ERG; Transforming protein ERG", "protein_names_refseq": "ERG, ETS transcription factor; FUS/ERG fusion protein; TMPRSS2/ERG fusion; ets-related; transcriptional regulator ERG (transforming protein ERG); transcriptional regulator ERG isoform 3; v-ets avian erythroblastosis virus E26 oncogene homolog; v-ets avian erythroblastosis virus E26 oncogene related; v-ets erythroblastosis virus E26 oncogene homolog; v-ets erythroblastosis virus E26 oncogene like", "tax_id": 9606, "disease": "hereditary lymphedema (Disease Ontology:DOID:0050580); Ewing sarcoma (Disease Ontology:DOID:3369); pulmonary venoocclusive disease (Disease Ontology:DOID:5453); osteoarthritis (Disease Ontology:DOID:8398); myeloid leukemia (Disease Ontology:DOID:8692); lymphatic malformation 14 (MONDO:MONDO:0957954)", "pathway": " (hsa:2078)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "14693372;15302935;15351649;16303180;17289661;23472063;23918819;24149465;25170998;25885538;28218747;28887309;29485866;29786170;29789417;30524438;31154438;31848261;32157095;32897882;32938616;3299708;34185709;34314419;3476934;35051231;35580925;36928819;37938771;38091230;38309204;38457494;38695236;38965683;8076344;8187069;8290279", "class_list": "", "function": "An intricate regulatory circuit between FLI1 and GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic differentiation., [RefSeq, PubMed]; Characterization of native ERG and Tmprss2:ERG variants reveals that their different oncogenic potential is affected by the status of the Ets domain and the configuration of the 5' UTR region, [RefSeq, PubMed]; ERG Regulates Lymphatic Vessel Specification Genes and Its Deficiency Impairs Wound Healing-Associated Lymphangiogenesis., [RefSeq, PubMed]; ERG and c-MYC regulate a critical gene network in BCR::ABL1-driven B cell acute lymphoblastic leukemia., [RefSeq, PubMed]; ERG mediates the inhibition of NK cell cytotoxicity through the HLX/STAT4/Perforin signaling pathway, thereby promoting the progression of myocardial infarction., [RefSeq, PubMed]; NKX2-1-AS1 promotes the lymphangiogenesis of lung adenocarcinoma through regulation of ERG-mediated FABP4., [RefSeq, PubMed]; This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]., [RefSeq]; Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure., [UniProtKB]", "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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "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": "B4DTW5;B4E0T4;Q16113;Q6XXX4;Q6XXX5;Q8IXK9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin 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:0005829 cytosol;GO:0000785 chromatin;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P11308-4", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03111-1", "uniprot_id": [ { "id": "ENL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03111", "type": "external" } ], "mass": 62056.0, "length": 559, "protein_name": "Protein ENL", "gene_name": "MLLT1", "organism": "Human", "refseq_name": "protein ENL", "refseq_ac": [ { "id": "NP_005925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005925", "type": "external" } ], "gene_names_uniprotkb": "MLLT1; ENL; LTG19; YEATS1", "gene_names_refseq": "ENL; LTG19; MLLT1; YEATS1", "protein_names_uniprotkb": "Protein ENL; Eleven-nineteen-leukeumia; YEATS domain-containing protein 1", "protein_names_refseq": "CTC-503J8.6; ENL/MLL fusion; MLL/ENL fusion protein; MLLT1/MLL fusion; YEATS domain-containing protein 1; eleven-nineteen leukemia; eleven-nineteen-leukeumia; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); myeloid/lymphoid or mixed-lineage leukemia; protein ENL; translocated to, 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4298); (R-HSA-112382); (R-HSA-674695); (R-HSA-75955)", "pathway_count": 4, "publication_count": 92, "publication_id_list": "10199401;11237011;11313498;11313499;11859374;11884399;12665591;12676794;1423624;15489290;17081983;17234882;17924679;18452278;18669648;18691976;18707149;19369195;1939271;19413330;19651622;19664995;19952111;20068231;20159561;20471948;22195968;23145062;2449431;24715725;25576301;25645385;26154972;26659056;26992070;27105114;27846572;28063628;28241139;28241141;28832583;28855257;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30059200;30315122;30374167;30429286;30484775;30524438;31217245;31844290;31848261;32157095;32161166;32357974;32387766;32897882;32938616;32983136;33298915;33592498;33912179;33936100;33968037;33981976;34087483;34174329;34509645;34853079;34932366;35051231;35318648;35561310;35580925;36010968;36435883;36735043;39794553;7660122;7660129;7660130;8080983;8370526;8378076;9450929;9489704", "class_list": "", "function": "Acts as a key chromatin reader in acute myeloid leukemia by recognizing and binding to acetylated histones via its YEATS domain, thereby regulating oncogenic gene transcription., [UniProtKB, PubMed, PubMed]; Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (PubMed:20159561, PubMed:20471948). Specifically recognizes and binds acetylated and crotonylated histones, with a preference for histones that are crotonylated (PubMed:27105114). Has a slightly higher affinity for binding histone H3 crotonylated at 'Lys-27' (H3K27cr) than 'Lys-20' (H3K9cr20) (PubMed:27105114). May play a role in leukemogenic gene transcription (PubMed:39794553)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Circvrk1 downregulation attenuates brain microvascular endothelial cell damage induced by oxygen-glucose deprivation through modulating the miR-150-5p/MLLT1 axis., [RefSeq, PubMed]; KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs., [RefSeq, PubMed]; The ENL YEATS epigenetic reader domain critically links MLL-ENL to leukemic stem cell frequency in t(11;19) Leukemia., [RefSeq, PubMed]; The Intrinsically Disordered Proteins MLLT3 (AF9) and MLLT1 (ENL) - Multimodal Transcriptional Switches With Roles in Normal Hematopoiesis, MLL Fusion Leukemia, and Kidney Cancer. Review article, [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": 33, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "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": "Q14768", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0008023 transcription elongation factor complex;GO:0001650 fibrillar center", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q03111-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55317-1", "uniprot_id": [ { "id": "FOXA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P55317", "type": "external" } ], "mass": 49148.0, "length": 472, "protein_name": "Hepatocyte nuclear factor 3-alpha", "gene_name": "FOXA1", "organism": "Human", "refseq_name": "hepatocyte nuclear factor 3-alpha", "refseq_ac": [ { "id": "NP_004487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004487", "type": "external" } ], "gene_names_uniprotkb": "FOXA1; HNF3A; TCF3A", "gene_names_refseq": "FOXA1; HNF3A; TCF3A", "protein_names_uniprotkb": "Hepatocyte nuclear factor 3-alpha; Forkhead box protein A1; HNF-3-alpha; HNF-3A; TCF-3A; Transcription factor 3A", "protein_names_refseq": "HNF-3-alpha; HNF-3A; TCF-3A; forkhead box protein A1; hepatocyte nuclear factor 3-alpha; transcription factor 3A", "tax_id": 9606, "disease": "brain glioma (Disease Ontology:DOID:0060108); stomach cancer (Disease Ontology:DOID:10534); lung cancer (Disease Ontology:DOID:1324); colon carcinoma (Disease Ontology:DOID:1520); breast cancer (Disease Ontology:DOID:1612); colon adenocarcinoma (Disease Ontology:DOID:234); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung carcinoma (Disease Ontology:DOID:3905); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); esophagus adenocarcinoma (Disease Ontology:DOID:4914); lung small cell carcinoma (Disease Ontology:DOID:5409); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:3169); (R-HSA-9018519); (R-HSA-9796292)", "pathway_count": 3, "publication_count": 164, "publication_id_list": "10441331;10500157;10828826;10873660;10899756;11010967;11034064;11103799;11136970;11165043;11237011;11345900;11410592;11452016;11581164;11682626;12234996;12498683;12612073;12959972;14631847;14675539;15001666;15276198;15282324;15343269;15345050;15514030;15986123;15987773;16009131;16046058;16087863;16113099;1630819;16331276;16980581;17013392;17220277;17277772;17463000;17495528;17510434;17637753;17666587;17690249;18187655;18219272;18256232;18322535;18358809;18476782;18533032;18762174;18805503;19001364;19020303;19098913;19127412;19274700;19295514;19321454;19383337;19718048;19917725;19919681;20068231;20219941;20220130;20498280;20570965;20682797;21106759;21151129;21445275;21573489;21740066;21741376;2181374;21835891;21878914;21934649;21940756;22056668;22265404;22492511;22545144;22704330;23145106;23172872;23186163;23192763;23303788;23403292;23435229;23723241;23906331;24167369;24275569;24371278;24735615;24854081;24885040;24973012;24998469;25296600;25365482;25433557;25542856;25633194;25663755;25674852;25728767;26056233;26153859;26204489;26462610;26479350;26758079;27062924;27883218;27886276;28455227;28539435;2919170;3045126;30793308;31029427;31840817;31844290;32387766;32574038;3281094;34087483;34171305;34846842;3498214;35051231;35132862;35318648;35580925;3677090;37595040;38682180;38743820;38836682;38940052;39276350;39534244;39894887;7559524;7935485;7937828;8195246;8197458;8419924;8652662;8876171;9201922;9338790;9388265;9611253;9671459;9731700", "class_list": "", "function": "Dynamic phosphorylation of FOXA1 by Aurora B guides post-mitotic gene reactivation., [RefSeq, PubMed]; FOXA1 co-activates circODC1 and ODC1 in HPV-positive cervical cancer cell growth., [RefSeq, PubMed]; FOXA1/UBE2T Inhibits CD8[+]T Cell Activity by Inducing Mediates Glycolysis in Lung Adenocarcinoma., [RefSeq, PubMed]; LINC01133 contributes to the malignant phenotypes of non-small cell lung cancer by targeting miR-30b-5p/FOXA1 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The Role of FOXA1 in Human Normal Development and Its Functions in Sex Hormone-Related Cancers. Review article, [RefSeq, PubMed]; This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). Proposed to play a role in translating the epigenetic signatures into cell type-specific enhancer-driven transcriptional programs. Its differential recruitment to chromatin is dependent on distribution of histone H3 methylated at 'Lys-5' (H3K4me2) in estrogen-regulated genes. Involved in the development of multiple endoderm-derived organ systems such as liver, pancreas, lung and prostate; FOXA1 and FOXA2 seem to have at least in part redundant roles (By similarity). Modulates the transcriptional activity of nuclear hormone receptors. Is involved in ESR1-mediated transcription; required for ESR1 binding to the NKX2-1 promoter in breast cancer cells; binds to the RPRM promoter and is required for the estrogen-induced repression of RPRM. Involved in regulation of apoptosis by inhibiting the expression of BCL2. Involved in cell cycle regulation by activating expression of CDKN1B, alone or in conjunction with BRCA1. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 0, "mined_o_glycosites": 4, "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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 76, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B2R9H6;B7ZAP5;Q9H2A0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0019904 protein domain specific binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001650 fibrillar center;GO:0000785 chromatin;GO:0005902 microvillus", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "P55317-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17535-1", "uniprot_id": [ { "id": "JUND_HUMAN", "url": "https://www.uniprot.org/uniprot/P17535", "type": "external" } ], "mass": 35174.0, "length": 347, "protein_name": "Transcription factor JunD", "gene_name": "JUND", "organism": "Human", "refseq_name": "transcription factor JunD isoform deltaJunD", "refseq_ac": [ { "id": "NP_001273897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273897", "type": "external" } ], "gene_names_uniprotkb": "JUND", "gene_names_refseq": "AP-1; JUND", "protein_names_uniprotkb": "Transcription factor JunD; Transcription factor AP-1 subunit JunD", "protein_names_refseq": "activator protein 1; jun D proto-oncogene; transcription factor AP-1 subunit JunD; transcription factor JunD isoform deltaJunD; transcription factor JunD; transcription factor jun-D", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); crescentic glomerulonephritis (Disease Ontology:DOID:13139); transient cerebral ischemia (Disease Ontology:DOID:224); renal carcinoma (Disease Ontology:DOID:4451); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:3727); (R-HSA-9018519); (R-HSA-9031628); (R-HSA-9909649)", "pathway_count": 4, "publication_count": 328, "publication_id_list": "10203854;10381005;10500157;10611221;10611312;10656257;10734128;10826704;10828826;10872467;10873660;10882540;10984481;11010967;11018254;11027551;11034064;11103799;11136970;11165043;11237011;11280768;11331872;11343657;11345900;11410592;11452016;11567222;11581164;11682626;11755530;11840323;11956230;12052834;12105216;12399542;12498683;12511643;12612073;12959972;1377233;14522948;14597720;14631847;14675539;14676207;14969744;15001666;15102911;15161978;15276198;15282324;15302935;15343269;15345050;15449318;15514030;15542842;15620361;1570299;15733869;15836632;15880109;15986123;16007120;16009131;16034366;16046058;16087863;16113099;16136673;16187211;16221685;16260776;16287845;1630819;16339507;16407550;16484497;16574654;16732277;16980581;17013392;17088210;17088211;17088212;17277772;17463000;17495528;17510434;17632064;17637753;17666587;17690249;17898216;18056528;18088355;18160048;18187655;18219272;18256232;18322535;1833716;18358809;18452278;18456662;18476782;18524893;18533032;1861162;18669648;18762174;18767875;18805503;19001364;19020303;1903194;19061646;19088198;19098913;19116276;19193899;19194657;19274700;19295514;19321454;19369195;19383337;19413330;19651622;19664994;19690332;19718048;19926875;20058876;20068231;2017159;20219941;20220130;2040600;20498280;20506119;2052361;20570965;20682797;2072895;21057636;2109185;21106759;2112242;21151129;21326363;21445275;21486943;21573489;21621608;2181374;21835891;21878914;21934649;21940756;22053691;22056668;22065583;22265404;22302795;22327296;2237820;22492511;22545144;22704330;23145106;23172872;23186163;23192763;23303788;23403292;23435229;23723241;23906331;24060757;24167369;24366607;24371278;24735615;24854081;24885040;24973012;24998469;25248477;25296600;25365482;25433557;25542856;25569790;25576301;25633194;25663755;25674852;25728767;25748042;26018600;26056233;26153859;26154972;26204489;26375851;26462610;26479350;2676516;26992070;27041596;27062924;27128622;27220739;27397612;27886276;28076410;28228285;28275114;28286024;28539435;28832583;28834231;28904123;28981703;2919170;29242379;29351928;29557506;29559111;29632711;29786170;30315122;30385408;30410026;30429286;3045126;30524438;31154438;3127059;31492838;31844290;31848261;32157095;32183950;32350084;32387766;32488085;32502341;3281094;32860047;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34019948;34509645;3498214;35051231;35251023;35318648;35580925;36010968;36608637;3672127;3677090;37535148;37931499;37938771;38253038;39534244;40596516;7551568;7559524;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;7935485;7937828;8090221;8090222;8195246;8197458;8248782;8413279;8419924;8483478;8576248;8583621;8668170;8756618;8846918;8876171;8918830;9032251;9084409;9201922;9338790;9343422;9388265;9390517;9418898;9611253;9622090;9671459;9722618;9731700;9770464;9774344;9808461;9822744;9858769;9989505", "class_list": "", "function": "AP-1 transcription factors in cytotoxic lymphocyte development and antitumor immunity. Review article, [RefSeq, PubMed]; JUND facilitates proliferation and angiogenesis of esophageal squamous cell carcinoma cell via MAPRE2 up-regulation., [RefSeq, PubMed]; The protein encoded by this intronless gene is a member of the JUN family, and a functional component of the AP1 transcription factor complex. This protein has been proposed to protect cells from p53-dependent senescence and apoptosis. Alternative translation initiation site usage results in the production of different isoforms (PMID:12105216). [provided by RefSeq, Nov 2013]., [RefSeq]; Transcription factor binding AP-1 sites (PubMed:9989505). Heterodimerizes with proteins of the FOS family to form an AP-1 transcription factor complex, thereby enhancing their DNA binding activity to an AP-1 consensus sequence 3'-TGA[GC]TCA-5' and enhancing their transcriptional activity (PubMed:28981703, PubMed:9989505)., [UniProtKB, PubMed, PubMed]; Translation initiation from alternative AUG and non-AUG sites in human, mouse and rat., [RefSeq, PubMed]; USP7-mediated JUND suppresses RCAN2 transcription and elevates NFATC1 to enhance stem cell property in colorectal cancer., [RefSeq, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q53EK9", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0019899 enzyme binding;GO:0000976 transcription cis-regulatory region 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:0005667 transcription regulator complex;GO:0000785 chromatin;GO:0032993 protein-DNA complex", "go_biological_process": "GO:0043032 positive regulation of macrophage activation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0009409 response to cold;GO:0032496 response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 33.6, "record_id": "P17535-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29376-1", "uniprot_id": [ { "id": "LTK_HUMAN", "url": "https://www.uniprot.org/uniprot/P29376", "type": "external" } ], "mass": 91681.0, "length": 864, "protein_name": "Leukocyte tyrosine kinase receptor", "gene_name": "LTK", "organism": "Human", "refseq_name": "leukocyte tyrosine kinase receptor isoform 3 precursor", "refseq_ac": [ { "id": "NP_001129157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129157", "type": "external" } ], "gene_names_uniprotkb": "LTK; TYK1", "gene_names_refseq": "LTK; TYK1", "protein_names_uniprotkb": "Leukocyte tyrosine kinase receptor; 2.7.10.1; Protein tyrosine kinase 1", "protein_names_refseq": "leukocyte tyrosine kinase receptor isoform 3 precursor; leukocyte tyrosine kinase receptor; protein tyrosine kinase 1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); neuroblastoma (Disease Ontology:DOID:769)", "pathway": " (hsa:4058); (R-HSA-9842663)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10.1101/2023.09.13.557529;10445845;10587647;11237011;12237455;14695357;15308621;1655406;17038317;17081983;17344846;18849880;19815557;20548102;2156206;22347506;2320375;24715725;25331893;25576301;25645385;26418745;26630010;26992070;30061385;30429286;31227593;31844290;31848261;32350084;32488085;32502341;32983136;33592498;34087483;34211107;34646012;34819663;34819673;35051231;35251023;35580925;38517106;7685902;8084603;9223670", "class_list": "", "function": "LTK-to-Sec12 signaling represents the first example of an endoplasmic reticulum-resident signaling module with the potential to regulate proteostasis., [RefSeq, PubMed]; Receptor with a tyrosine-protein kinase activity (PubMed:10445845, PubMed:20548102, PubMed:30061385). Following activation by ALKAL1 or ALKAL2 ligands at the cell surface, transduces an extracellular signal into an intracellular response (PubMed:30061385, PubMed:34646012). Ligand-binding to the extracellular domain induces tyrosine kinase activation, leading to activation of the mitogen-activated protein kinase (MAPK) pathway (PubMed:20548102). Phosphorylates almost exclusively at the first tyrosine of the Y-x-x-x-Y-Y motif (By similarity). The exact function of this protein is not known; studies with chimeric proteins demonstrate its ability to promote growth and specifically neurite outgrowth, and cell survival (PubMed:18849880, PubMed:9223670). Involved in regulation of the secretory pathway involving endoplasmic reticulum (ER) export sites (ERESs) and ER to Golgi transport (PubMed:20548102)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors., [RefSeq, PubMed]; Structural basis of cytokine-mediated activation of ALK family receptors., [RefSeq, PubMed]; The CLIP1-LTK fusion is an oncogenic driver in non-small-cell lung cancer., [RefSeq, PubMed]; The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 0, "reported_phosphosites": 4, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NNJ8;B4DL89;E9PFX4", "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", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0030298 receptor signaling protein tyrosine kinase activator activity;GO:0004714 transmembrane receptor protein tyrosine kinase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0008283 cell population proliferation;GO:0010976 positive regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "P29376-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78337-1", "uniprot_id": [ { "id": "PITX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P78337", "type": "external" } ], "mass": 34128.0, "length": 314, "protein_name": "Pituitary homeobox 1", "gene_name": "PITX1", "organism": "Human", "refseq_name": "pituitary homeobox 1", "refseq_ac": [ { "id": "NP_002644", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002644", "type": "external" } ], "gene_names_uniprotkb": "PITX1; BFT; PTX1", "gene_names_refseq": "BFT; CCF; PITX1; POTX; PTX1", "protein_names_uniprotkb": "Pituitary homeobox 1; Hindlimb-expressed homeobox protein backfoot; Homeobox protein PITX1; Paired-like homeodomain transcription factor 1", "protein_names_refseq": "hindlimb expressed homeobox protein backfoot; homeobox protein PITX1; paired-like homeodomain transcription factor 1; pituitary homeo box 1; pituitary homeobox 1; pituitary otx-related factor", "tax_id": 9606, "disease": "clubfoot (Disease Ontology:DOID:11836); brachydactyly-elbow wrist dysplasia syndrome (MONDO:MONDO:0008520)", "pathway": " (hsa:5307)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14978097;17081983;18452278;18669648;18950742;19651622;20068231;22258522;23022097;26154972;26612202;28832583;29237092;29393594;29557506;29786170;29789417;30059200;30620550;31492838;32161166;33214551;34087483;34215221;34405274;34526609;34846842;34868397;35051231;35254053;35289036;35318648;35513511;35580925;36334221;36360195;37541260;38665916;40596516;9070926;9337397", "class_list": "", "function": "Differential gene expression identifies a transcriptional regulatory network involving ER-alpha and PITX1 in invasive epithelial ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; PITX1 inhibits the growth and proliferation of melanoma cells through regulation of SOX family genes. Publication Status: Online-Only, [RefSeq, PubMed]; PITX1 suppresses osteosarcoma metastasis through exosomal LINC00662-mediated M2 macrophage polarization. Erratum:[Clin Exp Metastasis. 2024 Feb;41(1):79-80. doi: 10.1007/s10585-023-10247-1. PMID: 38064129], [RefSeq, PubMed]; Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb., [UniProtKB, UniProtKB]; This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulated Transcription Factor PITX1 Predicts Poor Prognosis in Kidney Renal Clear Cell Carcinoma-Based Bioinformatic Analysis and Experimental Verification. Publication Status: Online-Only, [RefSeq, PubMed]; What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study. Publication Status: Online-Only, [RefSeq, 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": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K3M0;D3DQB0;O14677;O60425;Q9BTI5", "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;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:0001501 skeletal system development;GO:0035116 embryonic hindlimb morphogenesis", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "P78337-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78527-1", "uniprot_id": [ { "id": "PRKDC_HUMAN", "url": "https://www.uniprot.org/uniprot/P78527", "type": "external" } ], "mass": 469089.0, "length": 4128, "protein_name": "DNA-dependent protein kinase catalytic subunit", "gene_name": "PRKDC", "organism": "Human", "refseq_name": "DNA-dependent protein kinase catalytic subunit isoform 2", "refseq_ac": [ { "id": "NP_001075109", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075109", "type": "external" } ], "gene_names_uniprotkb": "PRKDC; HYRC1; HYRC", "gene_names_refseq": "DNA-PKC; DNA-PKcs; DNAPKc; DNAPK; DNPK1; HYRC1; HYRC; IMD26; PRKDC; S473K; XRCC7; p350", "protein_names_uniprotkb": "DNA-dependent protein kinase catalytic subunit; 2.7.11.1; DNA-PK catalytic subunit; DNA-PKcs; DNPK1; S473K; Ser-473 kinase; p460", "protein_names_refseq": "DNA-PK catalytic subunit; DNA-dependent protein kinase catalytic subunit isoform 2; DNA-dependent protein kinase catalytic subunit; hyper-radiosensitivity of murine scid mutation, complementing 1; p460; protein kinase, DNA-activated, catalytic polypeptide; ser-473 kinase", "tax_id": 9606, "disease": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive (Disease Ontology:DOID:0090013); immunodeficiency 26 (Disease Ontology:DOID:0111961); severe combined immunodeficiency (Disease Ontology:DOID:627)", "pathway": " (hsa:5591); (R-HSA-1834949); (R-HSA-3270619); (R-HSA-5693571); (R-HSA-8866654)", "pathway_count": 5, "publication_count": 461, "publication_id_list": 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"class_list": "", "function": "PRKDC Induces Chemoresistance in Osteosarcoma by Recruiting GDE2 to Stabilize GNAS and Activate AKT., [RefSeq, PubMed]; PRKDC-Mediated NHEJ May Play a Crucial Role in Aneuploidy of Chromosome 8-Driven Progression of Ovarian Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:33854234). Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:33854234, PubMed:34352203). Must be bound to DNA to express its catalytic properties (PubMed:11955432). Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C) (PubMed:11955432). Recruited by XRCC5 and XRCC6 to DNA ends and is required to (1) protect and align broken ends of DNA, thereby preventing their degradation, (2) and sequester the DSB for repair by NHEJ (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:15574326, PubMed:33854234). Acts as a scaffold protein to aid the localization of DNA repair proteins to the site of damage (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:15574326). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:15574326). Found at the ends of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of chromosomal end fusion (By similarity). Also involved in modulation of transcription (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:15574326). As part of the DNA-PK complex, involved in the early steps of ribosome assembly by promoting the processing of precursor rRNA into mature 18S rRNA in the small-subunit processome (PubMed:32103174). Binding to U3 small nucleolar RNA, recruits PRKDC and XRCC5/Ku86 to the small-subunit processome (PubMed:32103174). Recognizes the substrate consensus sequence [ST]-Q (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:15574326). Phosphorylates 'Ser-139' of histone variant H2AX, thereby regulating DNA damage response mechanism (PubMed:14627815, PubMed:16046194). Phosphorylates ASF1A, DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, FH, SRF, NHEJ1/XLF, XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2 (PubMed:10026262, PubMed:10467406, PubMed:11889123, PubMed:12509254, PubMed:14599745, PubMed:14612514, PubMed:14704337, PubMed:15177042, PubMed:1597196, PubMed:16397295, PubMed:18644470, PubMed:2247066, PubMed:2507541, PubMed:26237645, PubMed:26666690, PubMed:28712728, PubMed:29478807, PubMed:30247612, PubMed:8407951, PubMed:8464713, PubMed:9139719, PubMed:9362500). Can phosphorylate C1D not only in the presence of linear DNA but also in the presence of supercoiled DNA (PubMed:9679063). Ability to phosphorylate p53/TP53 in the presence of supercoiled DNA is dependent on C1D (PubMed:9363941). Acts as a regulator of the phosphatidylinositol 3-kinase/protein kinase B signal transduction by mediating phosphorylation of 'Ser-473' of protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), promoting their activation (PubMed:15262962). Contributes to the determination of the circadian period length by antagonizing phosphorylation of CRY1 'Ser-588' and increasing CRY1 protein stability, most likely through an indirect mechanism (By similarity). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). Also regulates the cGAS-STING pathway by catalyzing phosphorylation of CGAS, thereby impairing CGAS oligomerization and activation (PubMed:33273464). Also regulates the cGAS-STING pathway by mediating phosphorylation of PARP1 (PubMed:35460603)., [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, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; TRIM24 Cooperates with Ras Mutation to Drive Glioma Progression through snoRNA Recruitment of PHAX and DNA-PKcs., [RefSeq, PubMed]; Targeting PRKDC activates the efficacy of antitumor immunity while sensitizing to chemotherapy and targeted therapy in liver hepatocellular carcinoma., [RefSeq, PubMed]; The DNA repair protein DNA-PKcs modulates synaptic plasticity via PSD-95 phosphorylation and stability., [RefSeq, PubMed]; This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]., [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": 8, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 63, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 94, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 3, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "P78528;Q13327;Q13337;Q14175;Q59H99;Q7Z611;Q96SE6;Q9UME3", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.27", "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": "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": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "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:0003723 RNA binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0070419 nonhomologous end joining complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol", "go_biological_process": "GO:0036211 protein modification process;GO:0097681 double-strand break repair via alternative nonhomologous end joining;GO:0050678 regulation of epithelial cell proliferation;GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0006468 protein phosphorylation", "synthesized_glycan_count": 0, "hit_score": 48.6, "record_id": "P78527-1", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15119-1", "uniprot_id": [ { "id": "TBX3_HUMAN", "url": "https://www.uniprot.org/uniprot/O15119", "type": "external" } ], "mass": 79389.0, "length": 743, "protein_name": "T-box transcription factor TBX3", "gene_name": "TBX3", "organism": "Human", "refseq_name": "T-box transcription factor TBX3 isoform 1", "refseq_ac": [ { "id": "NP_005987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987", "type": "external" } ], "gene_names_uniprotkb": "TBX3", "gene_names_refseq": "TBX3-ISO; TBX3; UMS; XHL", "protein_names_uniprotkb": "T-box transcription factor TBX3; T-box protein 3", "protein_names_refseq": "T-box 3; T-box protein 3; T-box transcription factor TBX3 isoform 1; T-box transcription factor TBX3; bladder cancer related protein XHL", "tax_id": 9606, "disease": "ulnar-mammary syndrome (Disease Ontology:DOID:0060614); stomach cancer (Disease Ontology:DOID:10534); depressive disorder (Disease Ontology:DOID:1596); cancer (Disease Ontology:DOID:162); ovarian cancer (Disease Ontology:DOID:2394); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:6926); (R-HSA-9856649)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10330342;10468588;10567402;10611221;10655586;10673502;11027551;11689487;11840323;11891324;11912130;11930005;12000749;12005433;14975237;15118077;15226305;15507434;16014379;16034366;16822840;1698554;17081983;17283120;17322306;1748288;17623675;18220336;18644867;18669648;18767875;19413330;19524539;19608861;19664994;20460180;21486943;21965087;22002537;22647378;23159739;23186163;23190890;23207919;24275569;25248477;25576301;25595898;25645385;25892735;26992070;27110270;27128622;27600516;28394346;29295999;29393594;29557506;29786170;30379171;30418433;30429286;30804224;31154438;31222486;31844290;31848261;32157095;32488085;32636443;32897882;32938616;33214551;33537174;33592498;33744299;34087483;34140478;34171305;34185709;35051231;35318648;35580925;36010968;36215666;36923312;36941669;37172754;37770430;37938771;38665916;38750011;38909034;39534244;5338216;7958932;8336698;9199364;9207801;9353119;9440696;9560246;9676189;9760192;9973413", "class_list": "", "function": "Intracellular mechanics and TBX3 expression jointly dictate the spreading mode of melanoma cells in 3D environments., [RefSeq, PubMed]; Mutations in Tbx3 are responsible for ulnar-mammary syndrome (UMS), an autosomal dominant disorder affecting limb, tooth, hair, apocrine gland and genital development., [RefSeq, PubMed]; Overexpression of TBX3 suppresses tumorigenesis in experimental and human cholangiocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Proteostatic reactivation of the developmental transcription factor TBX3 drives BRAF/MAPK-mediated tumorigenesis. Erratum:[Nat Commun. 2024 Jun 10;15(1):4936. doi: 10.1038/s41467-024-49330-w. PMID: 38858379] Publication Status: Online-Only, [RefSeq, PubMed]; Suppressed Cellular Senescence Mediated by T-box3 in Aged Gastric Epithelial Cells may Contribute to Aging-related Carcinogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; TBX3 is dynamically expressed in pancreatic organogenesis and fine-tunes regeneration. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional repressor involved in developmental processes (PubMed:10468588). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes (PubMed:12000749). Probably plays a role in limb pattern formation (PubMed:10468588). Required for mammary placode induction, and maintenance of the mammary buds during development (By similarity). Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX2 (By similarity). Required, together with TBX2, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signaling (By similarity). Involved in modulating early inner ear development, acting independently of, and also redundantly with, TBX2 in different subregions of the developing ear (By similarity). Acts as a negative regulator of PML function in cellular senescence (PubMed:22002537)., [UniProtKB, PubMed, PubMed, UniProtKB, 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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8TB20;Q9UKF8", "ec_number_list": [], "go_molecular_function": "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005929 cilium;GO:0000785 chromatin", "go_biological_process": "GO:0001708 cell fate specification;GO:0032275 luteinizing hormone secretion;GO:0046884 follicle-stimulating hormone secretion;GO:0030540 female genitalia development;GO:0036302 atrioventricular canal development", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "O15119-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LM6-1", "uniprot_id": [ { "id": "SMIP9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LM6", "type": "external" } ], "mass": 20615.0, "length": 180, "protein_name": "Protein SPMIP9", "gene_name": "SPMIP9", "organism": "Human", "refseq_name": "protein SPMIP9", "refseq_ac": [ { "id": "NP_689883", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689883", "type": "external" } ], "gene_names_uniprotkb": "SPMIP9; C2orf51; TEX37; TSC21", "gene_names_refseq": "C2orf51; SPMIP9; TEX37; TSC21", "protein_names_uniprotkb": "Protein SPMIP9; Sperm microtubule inner protein 9; Testis-expressed sequence 37 protein; Testis-specific conserved protein of 21 kDa", "protein_names_refseq": "Testis-Specific Conserved gene 21kDa; protein SPMIP9; protein TSC21; testis expressed 37; testis tissue sperm-binding protein Li 93mP; testis-expressed sequence 37 protein; testis-specific conserved protein of 21 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:200523)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "17091336;25892735;26168773", "class_list": "", "function": "Identification of a novel gene, Tsc21, exclusively expressed in testes., [RefSeq, PubMed]; Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in flagella axoneme., [UniProtKB, UniProtKB]", "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": 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": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0036126 sperm flagellum;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96LM6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31751-1", "uniprot_id": [ { "id": "AKT2_HUMAN", "url": "https://www.uniprot.org/uniprot/P31751", "type": "external" } ], "mass": 55769.0, "length": 481, "protein_name": "RAC-beta serine/threonine-protein kinase", "gene_name": "AKT2", "organism": "Human", "refseq_name": "RAC-beta serine/threonine-protein kinase isoform 4", "refseq_ac": [ { "id": "NP_001317440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317440", "type": "external" } ], "gene_names_uniprotkb": "AKT2", "gene_names_refseq": "AKT2; HIHGHH; PKBBETA; PKBB; PRKBB; RAC-BETA", "protein_names_uniprotkb": "RAC-beta serine/threonine-protein kinase; 2.7.11.1; PKB beta; Protein kinase Akt-2; Protein kinase B beta; RAC protein kinase beta; RAC-PK-beta", "protein_names_refseq": "PKB beta; RAC-PK-beta; RAC-beta serine/threonine-protein kinase isoform 4; RAC-beta serine/threonine-protein kinase; murine thymoma viral (v-akt) homolog-2; protein kinase Akt-2; protein kinase B beta; putative v-akt murine thymoma viral oncoprotein 2; rac protein kinase beta; v-akt murine thymoma viral oncogene homolog 2", "tax_id": 9606, "disease": "hypoinsulinemic hypoglycemia with hemihypertrophy (Disease Ontology:DOID:0112263); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); hypertension (Disease Ontology:DOID:10763); polycystic ovary syndrome (Disease Ontology:DOID:11612); endometrial cancer (Disease Ontology:DOID:1380); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); prostate adenocarcinoma (Disease Ontology:DOID:2526); carcinoma (Disease Ontology:DOID:305); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070); ischemia (Disease Ontology:DOID:326); ovarian carcinoma (Disease Ontology:DOID:4001); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:208); (R-HSA-111447); (R-HSA-1257604); (R-HSA-1358803); (R-HSA-1445148); (R-HSA-165158); (R-HSA-165159); (R-HSA-165160); (R-HSA-165181); (R-HSA-198323); (R-HSA-198693); (R-HSA-199418); (R-HSA-211163); (R-HSA-3769402); (R-HSA-389357); (R-HSA-389513); (R-HSA-392451); (R-HSA-5218920); (R-HSA-5628897); (R-HSA-5674400); (R-HSA-6804757); (R-HSA-6804758); (R-HSA-6804759); (R-HSA-69202); (R-HSA-69656); (R-HSA-8876198); (R-HSA-8941332); (R-HSA-8948751); (R-HSA-9607240); (R-HSA-9614399); (R-HSA-9634638); (R-HSA-9755511); (R-HSA-9755779); (R-HSA-9824585)", "pathway_count": 34, "publication_count": 732, "publication_id_list": 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"class_list": "", "function": "Active AKT2 stimulation of SREBP1/SCD1-mediated lipid metabolism boosts hepatosteatosis and cancer., [RefSeq, PubMed]; All Three AKT Isoforms Can Upregulate Oxygen Metabolism and Lactate Production in Human Hepatocellular Carcinoma Cell Lines. Publication Status: Online-Only, [RefSeq, PubMed]; Differential activation of AKT isoforms by growth factors in human myotubes., [RefSeq, PubMed]; Differential prognostic values of the three AKT isoforms in acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; M 6 A reader IGF2BP1 reduces the sensitivity of nasopharyngeal carcinoma cells to Taxol by upregulation of AKT2., [RefSeq, PubMed]; Serine/threonine kinase closely related to AKT1 and AKT3. All 3 enzymes, AKT1, AKT2 and AKT3, are collectively known as AKT kinase. AKT regulates many processes including metabolism, proliferation, cell survival, growth and angiogenesis, through the phosphorylation of a range of downstream substrates. Over 100 substrates have been reported so far, although for most of them, the precise AKT kinase catalyzing the reaction was not specified. AKT regulates glucose uptake by mediating insulin-induced translocation of the SLC2A4/GLUT4 glucose transporter to the cell surface. Phosphorylation of PTPN1 at 'Ser-50' negatively modulates its phosphatase activity preventing dephosphorylation of the insulin receptor and the attenuation of insulin signaling. Phosphorylation of TBC1D4 triggers the binding of this effector to inhibitory 14-3-3 proteins, which is required for insulin-stimulated glucose transport. AKT also regulates the storage of glucose in the form of glycogen by phosphorylating GSK3A at 'Ser-21' and GSK3B at 'Ser-9', resulting in inhibition of its kinase activity. Phosphorylation of GSK3 isoforms by AKT is also thought to be one mechanism by which cell proliferation is driven. AKT also regulates cell survival via the phosphorylation of MAP3K5 (apoptosis signal-related kinase). Phosphorylation of 'Ser-83' decreases MAP3K5 kinase activity stimulated by oxidative stress and thereby prevents apoptosis. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 at 'Ser-939' and 'Thr-1462', thereby activating mTORC1 signaling and leading to both phosphorylation of 4E-BP1 and in activation of RPS6KB1. AKT is involved in the phosphorylation of members of the FOXO factors (Forkhead family of transcription factors), leading to binding of 14-3-3 proteins and cytoplasmic localization. In particular, FOXO1 is phosphorylated at 'Thr-24', 'Ser-256' and 'Ser-319'. FOXO3 and FOXO4 are phosphorylated on equivalent sites. AKT has an important role in the regulation of NF-kappa-B-dependent gene transcription and positively regulates the activity of CREB1 (cyclic AMP (cAMP)-response element binding protein). The phosphorylation of CREB1 induces the binding of accessory proteins that are necessary for the transcription of pro-survival genes such as BCL2 and MCL1. AKT phosphorylates 'Ser-454' on ATP citrate lyase (ACLY), thereby potentially regulating ACLY activity and fatty acid synthesis. Activates the 3B isoform of cyclic nucleotide phosphodiesterase (PDE3B) via phosphorylation of 'Ser-273', resulting in reduced cyclic AMP levels and inhibition of lipolysis. Phosphorylates PIKFYVE on 'Ser-318', which results in increased PI(3)P-5 activity. The Rho GTPase-activating protein DLC1 is another substrate and its phosphorylation is implicated in the regulation cell proliferation and cell growth. AKT plays a role as key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. Signals downstream of phosphatidylinositol 3-kinase (PI(3)K) to mediate the effects of various growth factors such as platelet-derived growth factor (PDGF), epidermal growth factor (EGF), insulin and insulin-like growth factor 1 (IGF1). AKT mediates the antiapoptotic effects of IGF1. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. May be involved in the regulation of the placental development (PubMed:21432781, PubMed:21620960). In response to lysophosphatidic acid stimulation, inhibits the ciliogenesis cascade. In this context, phosphorylates WDR44, hence stabilizing its interaction with Rab11 and preventing the formation of the ciliogenic Rab11-FIP3-RAB3IP complex. Also phosphorylates RAB3IP/Rabin8, thus may affect RAB3IP guanine nucleotide exchange factor (GEF) activity toward Rab8, which is important for cilia growth (PubMed:31204173). Phosphorylates PKP1, facilitating its interaction with YWHAG and translocation to the nucleus, ultimately resulting in a reduction in keratinocyte intercellular adhesion (By similarity). Phosphorylation of PKP1 increases PKP1 protein stability, translocation to the cytoplasm away from desmosome plaques and PKP1-driven cap-dependent translation (PubMed:23444369)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Several AKT2-specific substrates have been identified, including ANKRD2, C2CD5, CLK2 and PITX2. May play a role in myoblast differentiation. In this context, may act through PITX2 phosphorylation. Unphosphorylated PITX2 associates with an ELAVL1/HuR-containing complex, which stabilizes CCND1 cyclin mRNA, ensuring cell proliferation. Phosphorylation by AKT2 impairs this association, leading to CCND1 mRNA destabilization and progression towards differentiation (By similarity). Also involved in the negative regulation of myogenesis in response to stress conditions. In this context, acts by phosphorylating ANKRD2 (By similarity). May also be a key regulator of glucose uptake. Regulates insulin-stimulated glucose transport by the increase of glucose transporter GLUT4 translocation from intracellular stores to the plasma membrane. In this context, acts by phosphorylating C2CD5/CDP138 on 'Ser-197' in insulin-stimulated adipocytes (By similarity). Through the phosphorylation of CLK2 on 'Thr-343', involved in insulin-regulated suppression of hepatic gluconeogenesis (By similarity)., [UniProtKB, UniProtKB]; This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "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": 15, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 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"https://www.rhea-db.org/rhea/?query=ec:3.4.11.3", "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:0005524 ATP binding;GO:0046872 metal ion binding;GO:0106310 protein serine kinase activity;GO:0140677 molecular function activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0036211 protein modification process;GO:0007165 signal transduction;GO:0030335 positive regulation of cell migration;GO:0032000 positive regulation of fatty acid beta-oxidation;GO:0032869 cellular response to insulin stimulus", "synthesized_glycan_count": 0, "hit_score": 73.5, "record_id": "P31751-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03164-1", "uniprot_id": [ { "id": "KMT2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03164", "type": "external" } ], "mass": 431764.0, "length": 3969, "protein_name": "Histone-lysine N-methyltransferase 2A", "gene_name": "KMT2A", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase 2A isoform 1", "refseq_ac": [ { "id": "NP_001184033", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184033", "type": "external" } ], "gene_names_uniprotkb": "KMT2A; ALL1; CXXC7; HRX; HTRX; MLL1; MLL; TRX1", "gene_names_refseq": "ALL-1; ALL1; CXXC7; GAS7; HRX; HTRX1; HTRX; KMT2A; MLL1A; MLL1; MLL; TRX1; WDSTS", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase 2A; 2.1.1.-; 2.1.1.364; ALL-1; C-terminal cleavage product of 180 kDa; CXXC-type zinc finger protein 7; Cysteine methyltransferase KMT2A; Lysine N-methyltransferase 2A; Myeloid/lymphoid or mixed-lineage leukemia protein 1; Myeloid/lymphoid or mixed-lineage leukemia; N-terminal cleavage product of 320 kDa; Trithorax-like protein; Zinc finger protein HRX; p180; p320", "protein_names_refseq": "Acute lymphocytic 1; CXXC-type zinc finger protein 7; histone-lysine N-methyltransferase 2A isoform 1; histone-lysine N-methyltransferase 2A; lysine (K)-specific methyltransferase 2A; lysine N-methyltransferase 2A; mixed lineage leukemia 1; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); trithorax-like protein; zinc finger protein HRX", "tax_id": 9606, "disease": "non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); prostate cancer (Disease Ontology:DOID:10283); congenital heart disease (Disease Ontology:DOID:1682); transient cerebral ischemia (Disease Ontology:DOID:224); cervical cancer (Disease Ontology:DOID:4362); myelofibrosis (Disease Ontology:DOID:4971); acute myeloid leukemia (Disease Ontology:DOID:9119); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); Wiedemann-Steiner syndrome (MONDO:MONDO:0011518)", "pathway": " (hsa:4297); (R-HSA-3214841); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-9616222); (R-HSA-9772755); (R-HSA-9909649); (R-HSA-9931510); (R-HSA-9931512); (R-HSA-9931521); (R-HSA-9976102)", "pathway_count": 11, "publication_count": 326, "publication_id_list": "10.1101/2023.09.13.557529;10233885;10330422;10490642;10588740;10617663;10648423;10706619;10857746;10949293;11110714;11237011;11242107;11340171;11369759;11433529;11564866;11684017;11847229;11867521;11959841;12123582;12124344;12130538;12242300;12393701;12453418;12453419;12482972;12483298;12540855;12576332;12618766;12618768;12670868;12702500;12869508;1303259;1423624;1423625;14517214;14536086;14636557;14690610;14750904;14978793;14992727;14999297;15145825;15199122;15235609;15302935;15678106;15960975;15964846;16061630;16118227;16199523;16227571;16239140;16253272;16292313;16519522;16565220;16628190;16682010;16751774;16805913;16829959;16878130;16892064;16990798;17021013;17063141;17081983;17355966;17467953;17500065;17544230;17562868;17612494;17671196;17707229;17924679;17925232;17994337;17998332;18172012;18280240;18316480;18317514;18452278;18598942;18669648;18701449;18776924;18829457;18829459;18838386;18838538;18840606;19007248;19088198;19103755;19114653;19124460;19187761;19369195;19413330;19509293;19556245;19608861;19651622;19690332;19691289;1971514;19729989;19808676;20010842;20018852;20068231;20305658;20339092;20541251;20575550;20658337;20661648;20677832;20716525;20818375;20876458;20887958;20934997;20961854;21106533;21124902;21129147;21131905;21131967;21135039;21196496;21220120;21252065;21406692;21471526;21571218;21725049;21740066;21779408;21832073;21993314;22012064;22099308;22266653;22327296;22371011;22474248;22652693;22665483;22777353;22795537;22897851;22936661;22939622;23001182;23178126;23186163;23301498;23508102;23651431;23995757;24235145;24244196;24275569;24366607;24368734;24379003;24584857;24680668;24714562;24715725;25043025;25082813;2524830;25305204;25394790;25418920;25505266;25561738;25576301;25593305;25593309;25645385;25784653;26010396;26154972;26324722;26375851;26811146;26886794;26929215;26992070;27137657;2721961;27397612;27563068;27600516;27698142;27760318;27846572;27862975;27920218;28182322;28218747;28228285;28398509;28514659;28649982;28832583;28834231;28855257;28904123;29138278;29242379;29276034;29351928;29393594;29431622;29437277;29493099;29508533;29557506;29632046;29632711;29671580;29769354;29786170;29789417;29897600;29937342;29997176;30315122;30379171;30385408;30410026;30429286;30779550;30833945;31092671;31154438;31217245;31400120;31485071;31530632;31544921;31844290;31848261;32119511;32157095;32161166;32183950;32265295;32357974;32387766;32488085;32502341;32574038;32860047;32897882;32938616;32983136;33214551;33298915;33392160;33592498;33657400;33691108;33717175;33912179;33936100;33968037;33981976;34012049;34019948;34087483;34171305;34405274;34725712;34850113;34933446;35033534;35051231;35132862;35138101;35190547;35254053;35289036;35439434;35580925;36010968;36241641;36284347;37217939;37353482;38665916;38963485;39002676;39531497;39534244;40136647;40307207;40596516;4709074;7598802;7794749;7862113;8162575;8378076;8414518;8695841;8703835;8846917;8950979;9177240;9537414;9694699", "class_list": "", "function": "Histone methyltransferase that plays an essential role in early development and hematopoiesis (PubMed:12453419, PubMed:15960975, PubMed:19187761, PubMed:19556245, PubMed:20677832, PubMed:21220120, PubMed:26886794). Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac) (PubMed:12453419, PubMed:15960975, PubMed:19187761, PubMed:19556245, PubMed:20677832, PubMed:21220120, PubMed:24235145, PubMed:26886794). Catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:12453419, PubMed:15960975, PubMed:19187761, PubMed:19556245, PubMed:20677832, PubMed:21220120, PubMed:25561738, PubMed:26886794). Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity (PubMed:19187761, PubMed:26886794). Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9' (PubMed:19187761). Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state (PubMed:20010842). Required for transcriptional activation of HOXA9 (PubMed:12453419, PubMed:20010842, PubMed:20677832). Promotes PPP1R15A-induced apoptosis (PubMed:10490642). Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-BMAL1 heterodimer (By similarity). Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-BMAL1 to chromatin (By similarity). Also has auto-methylation activity on Cys-3882 in absence of histone H3 substrate (PubMed:24235145)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MLL-AF9 regulates transcriptional initiation in mixed lineage leukemic cells., [RefSeq, PubMed]; Stduies indicate that leukemogenic MLL translocations fuse the common MLL N-terminus (approximately 1,400 aa) in frame with more than 60 translocation partner genes. Review article, [RefSeq, PubMed]; The Core Complex of Yeast COMPASS and Human Mixed-Lineage Leukemia (MLL), Structure, Function, and Recognition of the Nucleosome. Review article, [RefSeq, PubMed]; This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]., [RefSeq]", "predicted_glycosites": 9, "predicted_n_glycosites": 0, "predicted_o_glycosites": 9, "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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 36, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 36, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 36, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 79, "reported_mutagensis": 86, "reported_glycation": 0, "reported_snv": 219, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 9, "glyco_site_count": 48, "binding_glycan_count": 0, "secondary_ac_list": "E9PQG7;Q13743;Q13744;Q14845;Q16364;Q59FF2;Q6UBD1;Q9HBJ3;Q9UD94;Q9UMA3", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "2.1.1.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.85", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.5.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.48", "type": "external" }, { "id": "3.5.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.62", "type": "external" }, { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "id": "2.1.1.370", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.370", "type": "external" }, { "id": "2.1.1.371", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.371", "type": "external" }, { "id": "3.4.25.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.-", "type": "external" }, { "id": "2.1.1.354", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.354", "type": "external" }, { "id": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" }, { "id": "2.1.1.355", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.355", "type": "external" }, { "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": "2.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.37", "type": "external" } ], "go_molecular_function": "GO:0003680 minor groove of adenine-thymine-rich DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0035097 histone methyltransferase complex;GO:0071339 MLL1 complex", "go_biological_process": "GO:0035162 embryonic hemopoiesis;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0090310 negative regulation of DNA methylation-dependent heterochromatin formation;GO:0006915 apoptotic process;GO:0051899 membrane depolarization", "synthesized_glycan_count": 0, "hit_score": 37.2, "record_id": "Q03164-1", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96Q35-1", "uniprot_id": [ { "id": "FACC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96Q35", "type": "external" } ], "mass": 52439.0, "length": 445, "protein_name": "Flagellum-associated coiled-coil domain-containing protein 1", "gene_name": "FLACC1", "organism": "Human", "refseq_name": "flagellum-associated coiled-coil domain-containing protein 1 isoform b", "refseq_ac": [ { "id": "NP_001120863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120863", "type": "external" } ], "gene_names_uniprotkb": "FLACC1; ALS2CR12", "gene_names_refseq": "ALS2CR12; FLACC1", "protein_names_uniprotkb": "Flagellum-associated coiled-coil domain-containing protein 1; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein", "protein_names_refseq": "ALS2 chromosome region 12; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein; amyotrophic lateral sclerosis 2 chromosome region 12; amyotrophic lateral sclerosis 2 chromosome region candidate 12; flagellum-associated coiled-coil domain-containing protein 1 isoform b; flagellum-associated coiled-coil domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:130540)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;11586298;18649358;19608861;19692168;23481700;25855136;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Rs13014235 is associated with susceptibility to cutaneous basal cell carcinoma. 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, "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": 6, "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": "G5E9S3;Q53TT6;Q8N1B6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001520 outer dense fiber;GO:0005737 cytoplasm;GO:0031410 cytoplasmic vesicle;GO:0036126 sperm flagellum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96Q35-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP61-1", "uniprot_id": [ { "id": "ARFG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP61", "type": "external" } ], "mass": 56928.0, "length": 516, "protein_name": "ADP-ribosylation factor GTPase-activating protein 3", "gene_name": "ARFGAP3", "organism": "Human", "refseq_name": "ADP-ribosylation factor GTPase-activating protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001135765", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135765", "type": "external" } ], "gene_names_uniprotkb": "ARFGAP3; ARFGAP1", "gene_names_refseq": "ARFGAP1; ARFGAP3", "protein_names_uniprotkb": "ADP-ribosylation factor GTPase-activating protein 3; ARF GAP 3", "protein_names_refseq": "ADP ribosylation factor GTPase activating protein 3; ADP-ribosylation factor GTPase activating protein 1; ADP-ribosylation factor GTPase-activating protein 3 isoform 2; ARF GAP 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:26286); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-9013148); (R-HSA-9013408)", "pathway_count": 5, "publication_count": 447, "publication_id_list": "10.1101/2023.09.13.557529;10052452;10232922;10318838;10445031;10464238;10490598;10523665;10523675;10526156;10559246;10559959;10579713;10652265;10679020;10699171;10699464;10704287;10724160;10761932;10873802;10903204;10921873;11007481;11035033;11058585;11085924;11149925;11172815;11237011;11285137;11306516;11306556;11373293;11396949;11431473;11432776;11461920;11493604;11584276;11606631;11672528;11689559;11689693;11696321;11703931;11704860;11726511;11739780;11748249;11756552;11773441;11804587;11804589;11804590;11864571;11884391;11912491;11948177;11967128;12047556;12070132;12071859;12093360;12096337;12172552;12177196;12195014;12221096;12351724;12376551;12388752;12432077;12464619;12531887;12547822;12634853;12650940;12773384;12857875;12860998;12877655;12907671;14504276;14506234;14512443;14654841;14742712;15023524;15029241;15037235;15064355;15107133;15133129;15147912;15157669;15260990;15272311;15302923;15304341;15342493;15485661;15592455;15601624;15611138;15616190;15632110;15728195;15728722;15813748;15850391;15878873;15897194;16030262;16112081;16116428;16184169;16217026;1631136;16339170;16519628;16571679;16630611;16633337;16714282;16723730;16777452;16777849;1680566;16862148;16896804;16912714;16926190;16940185;16959974;16968698;17027967;17064668;17077126;17081983;17113389;17145773;17196961;17214551;17244649;17253781;17274799;17360540;17429068;17451557;17547437;17599059;17702745;17760859;17765681;17804252;17924679;17927562;17932950;17956946;17976533;18045877;18056264;18086915;18182008;18212344;18218625;18283113;18287528;18363964;18426980;18477386;18524849;18653540;18669648;18786931;18809720;18835169;18838382;18929667;1898986;19015319;19109418;19151722;19164740;19296914;19369418;1957170;19581409;19605563;19631211;19690332;19713215;19758564;19934221;20005805;20068231;20136777;20357002;20427317;20462495;20534429;20637885;20679435;21136679;21148482;21219331;21454492;21542010;21550981;21565175;21613211;21621533;21685891;21689688;21844168;21865595;21989057;22004470;22013193;22094269;22096251;22298643;22304919;22461490;22544926;22571869;22608513;22645359;22734669;22869377;22898188;22970203;23186163;23200924;23255595;23396477;23406282;23434736;23481700;23572525;23718289;23839779;24086303;24119662;24190977;24259668;24275569;24335996;24352656;24366607;24397554;24584464;24659802;24714562;24715725;24806965;24933155;24996924;25024229;25211221;25364732;25418920;25436559;25492864;25576301;25645385;25704760;25721503;25795300;25862245;25880248;25892735;25963737;26024233;26129894;26154972;26299518;26529257;26598554;26811146;26887924;26992070;27096001;27145964;27216196;27397612;27481945;27543614;27555588;27600516;27798618;27846572;27862975;27920218;28028151;28196833;28218747;28228285;28446606;28649982;28657654;28825699;28832583;28834231;28860189;28860633;28904123;29237092;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30061681;30315122;30410026;30429286;30484775;30524438;30779550;30833945;30853411;31092671;31154438;31217245;31492838;31530632;31844290;31848261;31868832;31871319;31937595;31998317;32157095;32161166;32203420;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34509645;34561969;34725712;34932366;35051231;35132862;35251023;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37938771;38665916;39534244;40307207;40596516;7476457;7479768;7512369;7673236;7691276;7721814;7753201;7844144;8001155;8021274;8128252;8132710;8221884;8253837;8505331;8537347;8620540;8636227;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8991093;8994827;9013646;9113980;9114004;9150144;9177194;9244307;9268338;9288971;9305890;9323141;9380700;9382863;9405360;9405671;9438849;9490638;9490716;9497316;9659915;9670022;9671725;9751720;9822605;9829970;9843499;9846874;9990005", "class_list": "", "function": "Expression of ArfGAP3 in Vaginal Anterior Wall of Patients With Pelvic Floor Organ Prolapse in Pelvic Organ Prolapse and Non-Pelvic Organ Prolapse Patients., [RefSeq, PubMed]; GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 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, "reported_n_glycosites": 1, "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, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "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": "E9PB03;Q9BSC6;Q9H9J0;Q9NT10;Q9NUP5;Q9Y4V3;Q9Y4V4", "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:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0048205 COPI coating of Golgi vesicle;GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0009306 protein secretion;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 45.4, "record_id": "Q9NP61-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y297-1", "uniprot_id": [ { "id": "FBW1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y297", "type": "external" } ], "mass": 68867.0, "length": 605, "protein_name": "F-box/WD repeat-containing protein 1A", "gene_name": "BTRC", "organism": "Human", "refseq_name": "F-box/WD repeat-containing protein 1A isoform 2", "refseq_ac": [ { "id": "NP_003930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003930", "type": "external" } ], "gene_names_uniprotkb": "BTRC; BTRCP; FBW1A; FBXW1A", "gene_names_refseq": "BETA-TRCP; BTRC; FBW1A; FBXW1A; FBXW1; FWD1; bTrCP1; bTrCP; betaTrCP", "protein_names_uniprotkb": "F-box/WD repeat-containing protein 1A; E3RSIkappaB; Epididymis tissue protein Li 2a; F-box and WD repeats protein beta-TrCP; pIkappaBalpha-E3 receptor subunit", "protein_names_refseq": "E3RSIkappaB; F-box and WD repeats protein beta-TrCP; F-box and WD-repeat protein 1B; F-box/WD repeat-containing protein 1A isoform 2; F-box/WD repeat-containing protein 1A; beta-TrCP1; epididymis tissue protein Li 2a; pIkappaBalpha-E3 receptor subunit", "tax_id": 9606, "disease": "Menkes disease (Disease Ontology:DOID:1838)", "pathway": " (hsa:8945); (R-HSA-1169091); (R-HSA-1170546); (R-HSA-174113); (R-HSA-180534); (R-HSA-195253); (R-HSA-202424); (R-HSA-2565942); (R-HSA-2871837); (R-HSA-3769402); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5676590); (R-HSA-5684264); (R-HSA-69601); (R-HSA-8951664); (R-HSA-9020702); (R-HSA-9762114); (R-HSA-983168); (R-HSA-9929356); (R-HSA-9932298)", "pathway_count": 24, "publication_count": 472, "publication_id_list": "10023660;10066435;10075690;10092233;10187770;10196136;10230406;10321728;10421629;10497169;10514424;10514433;10531035;10535940;10549281;10581160;10593898;10597293;10644755;10693759;10698680;10702308;10716940;10779524;10811609;10827953;10835356;10838074;10854325;10878807;10882101;10898789;10918611;10921920;10944533;10973499;10983987;11053425;11057907;11062501;11069780;11090634;11094434;11158290;11237011;11238952;11239468;11259415;11262391;11292861;11292862;11298456;11325957;11350924;11358993;11359933;11454738;11460167;11520989;11585840;11606584;11691915;11733065;11772397;11884229;11960013;11961546;11994270;12037680;12070292;12077367;12101228;12118249;12186903;12207013;12234927;12364337;12399544;12408824;12408825;12473183;12473184;12482991;12496252;12504025;12504026;12526791;12538644;12538665;12554650;12609982;12646216;12660731;12667451;12676583;12676925;12682069;12712206;12759351;12759363;12791267;12791687;12816948;12820959;12832462;12860405;12902344;12963847;13678582;14514672;14600025;14603323;14625308;14673179;14676825;14681206;14685266;14690597;14695475;14734113;14757770;14988407;15082796;15105418;15122200;15125833;15132997;15140882;15145317;15169888;15224091;15224092;15282312;15327769;15327770;15340381;15361859;15367669;15371334;15448698;15469984;15525529;15537541;15541657;15571818;15572695;15574592;15601839;15647282;15652483;15688063;15694336;15735151;15767667;15778223;15799966;15845454;15917222;15917247;16056267;16171779;16186825;16252004;16301747;16303288;16341139;16356853;16356855;16356856;16371461;16401342;16421275;16510874;16546209;16547496;16551619;16595681;16611981;16612002;16647857;16705181;16707496;16753179;16790436;16806191;16831874;16840534;16849449;16890155;16943200;16954532;16978534;17047224;17072321;17079684;17081101;17115028;17132228;17135271;17141195;17158449;17183061;17183367;17204608;17218525;17220875;17283082;17318175;17332328;17363905;17412698;17428801;17468049;17496917;17497243;17507369;17510365;17548359;1756723;17574027;17675297;17698607;17728323;17785452;17875931;17890055;17948050;17997719;18070982;18093314;18167338;18180283;18206966;1828071;18281465;1833184;18354482;18378692;18378770;18438411;18456656;18462924;18477460;18480045;18521620;18566290;18573912;18598779;18615013;18632848;18662542;18772140;18775313;18776931;18794143;18805092;18819930;18826954;18851830;18926707;19028597;19047045;19056373;19061640;19066035;19122653;19250909;19264966;19321346;19352404;19359218;19364920;19452197;19489725;19590513;19617556;19734889;19748355;19851334;19874575;19903815;19909372;19928349;19934406;19940019;19940261;20038579;20053995;20068069;20154143;20193029;20227366;20300203;20348946;20449947;20501935;20538596;20685844;20736409;20818436;21245377;21252624;21258371;2139180;21447816;21463634;2147937;21525931;21778237;21863050;21921029;21940857;21966355;22017875;22017876;22017877;22069318;22087322;22101459;22142471;22265677;22304967;22306028;22365832;22466964;22537386;2261476;22641346;22649370;22718757;22751928;22761442;22798961;22959436;22964642;22988300;23071779;23201271;23256519;23333871;23401859;23452856;23453757;23468625;23535662;23535663;23563313;23579495;23583660;23912815;23986495;24074955;24076655;24291232;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25503564;25531226;25704143;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27466718;27565346;27572267;28115426;28411811;28904123;29153394;29420262;29437277;2946959;29557506;29717933;30610225;30728908;3129195;31844290;32005965;32157095;32284348;32357974;32502341;32897882;32938616;32983136;33110214;33298915;33392160;33402344;33444648;33592498;33633747;33676897;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34315872;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36608670;37938771;38195659;38225265;39135477;39155374;39894887;7479848;7479976;7499357;7575604;7612269;7628694;7809113;7831327;7862124;7957109;8327496;8332913;8387275;8550590;8599092;8601309;8670417;8706131;8837778;8921937;8972730;9135156;9230313;9252186;9315679;9346238;9346484;9362451;9371760;9380723;9430229;9482734;9520446;9535861;9660940;9668046;9687533;9721103;9742107;9790970;9859996;9887101;9891082;9914500;9950430;9990852;9990853", "class_list": "", "function": "Beta-TrCP-Mediated Proteolysis of Mis18beta Prevents Mislocalization of CENP-A and Chromosomal Instability., [RefSeq, PubMed]; Decidual stromal cells-derived exosomes incurred insufficient migration and invasion of trophoblast by disturbing of beta-TrCP-mediated snail ubiquitination and degradation in unexplained recurrent spontaneous abortion. 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]; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:10066435, PubMed:10497169, PubMed:10644755, PubMed:10835356, PubMed:11158290, PubMed:11238952, PubMed:11359933, PubMed:11994270, PubMed:12791267, PubMed:12902344, PubMed:14603323, PubMed:14681206, PubMed:14988407, PubMed:15448698, PubMed:15917222, PubMed:16371461, PubMed:22017875, PubMed:22017876, PubMed:22017877, PubMed:22087322, PubMed:25503564, PubMed:25704143, PubMed:36608670, PubMed:9859996, PubMed:9990852). Recognizes and binds to phosphorylated target proteins (PubMed:10066435, PubMed:10497169, PubMed:10644755, PubMed:10835356, PubMed:11158290, PubMed:11238952, PubMed:11359933, PubMed:11994270, PubMed:12791267, PubMed:12902344, PubMed:14603323, PubMed:14681206, PubMed:14988407, PubMed:15448698, PubMed:15917222, PubMed:16371461, PubMed:22017875, PubMed:22017876, PubMed:22017877, PubMed:22087322, PubMed:25503564, PubMed:25704143, PubMed:36608670, PubMed:9859996, PubMed:9990852). SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling (PubMed:12077367, PubMed:12820959). SCF(BTRC) mediates the ubiquitination of phosphorylated NFKB1, ATF4, CDC25A, DLG1, FBXO5, PER1, SMAD3, SMAD4, SNAI1 and probably NFKB2 (PubMed:10835356, PubMed:11238952, PubMed:14603323, PubMed:14681206). SCF(BTRC) mediates the ubiquitination of NFKBIA, NFKBIB and NFKBIE; the degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription (PubMed:10066435, PubMed:10497169, PubMed:10644755, PubMed:9859996). Ubiquitination of NFKBIA occurs at 'Lys-21' and 'Lys-22' (PubMed:10066435). The SCF(FBXW11) complex also regulates NF-kappa-B by mediating ubiquitination of phosphorylated NFKB1: specifically ubiquitinates the p105 form of NFKB1, leading to its degradation (PubMed:10835356, PubMed:11158290, PubMed:14673179). SCF(BTRC) mediates the ubiquitination of CEP68; this is required for centriole separation during mitosis (PubMed:25503564, PubMed:25704143). SCF(BTRC) mediates the ubiquitination and subsequent degradation of nuclear NFE2L1 (By similarity). Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 and PER2 (PubMed:15917222). May be involved in ubiquitination and subsequent proteasomal degradation through a DBB1-CUL4 E3 ubiquitin-protein ligase. Required for activation of NFKB-mediated transcription by IL1B, MAP3K14, MAP3K1, IKBKB and TNF. SCF(BTRC) acts as a negative regulator of smoothened signaling by mediating ubiquitination of GLI2 and GLI3 in absence of smoothened, promoting their processing into transcription repressors (PubMed:16705181, PubMed:16371461). Mediates ubiquitination of REST, thereby leading to its proteasomal degradation (PubMed:18354482, PubMed:21258371). SCF(BTRC) mediates the ubiquitination and subsequent proteasomal degradation of KLF4; thereby negatively regulating cell pluripotency maintenance and embryogenesis (By similarity). SCF(BTRC) acts as a regulator of mTORC1 signaling pathway by catalyzing ubiquitination and subsequent proteasomal degradation of phosphorylated DEPTOR, TFE3 and MITF (PubMed:22017875, PubMed:22017876, PubMed:22017877, PubMed:33110214, PubMed:36608670). SCF(BTRC) directs 'Lys-48'-linked ubiquitination of UBR2 in the T-cell receptor signaling pathway (PubMed:38225265)., [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, 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 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 Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 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, "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": 3, "reported_glycation": 0, "reported_snv": 7, "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": "B5MD49;Q5W141;Q5W142;Q9Y213", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0061630 ubiquitin protein ligase activity;GO:0008013 beta-catenin binding;GO:0045309 protein phosphorylated amino acid binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045893 positive regulation of DNA-templated transcription;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 47.5, "record_id": "Q9Y297-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06239-1", "uniprot_id": [ { "id": "LCK_HUMAN", "url": "https://www.uniprot.org/uniprot/P06239", "type": "external" } ], "mass": 58001.0, "length": 509, "protein_name": "Tyrosine-protein kinase Lck", "gene_name": "LCK", "organism": "Human", "refseq_name": "tyrosine-protein kinase Lck isoform a", "refseq_ac": [ { "id": "NP_001036236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036236", "type": "external" } ], "gene_names_uniprotkb": "LCK", "gene_names_refseq": "IMD22; LCK; LSK; YT16; p56lck; pp58lck", "protein_names_uniprotkb": "Tyrosine-protein kinase Lck; 2.7.10.2; LSK; Leukocyte C-terminal Src kinase; Lymphocyte cell-specific protein-tyrosine kinase; Protein YT16; Proto-oncogene Lck; T cell-specific protein-tyrosine kinase; p56-LCK", "protein_names_refseq": "T-lymphocyte specific protein tyrosine kinase p56lck; leukocyte C-terminal Src kinase; lymphocyte cell-specific protein-tyrosine kinase; p56(LSTRA) protein-tyrosine kinase; proto-oncogene tyrosine-protein kinase LCK; t cell-specific protein-tyrosine kinase; tyrosine-protein kinase Lck isoform a", "tax_id": 9606, "disease": "immunodeficiency 22 (Disease Ontology:DOID:0111937); intestinal cancer (Disease Ontology:DOID:10155); allergic conjunctivitis (Disease Ontology:DOID:11204); cancer (Disease Ontology:DOID:162); Goldenhar syndrome (Disease Ontology:DOID:2907); carcinoma (Disease Ontology:DOID:305); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); kidney disease (Disease Ontology:DOID:557); retinal degeneration (Disease Ontology:DOID:8466); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:3932); (R-HSA-114604); (R-HSA-1257604); (R-HSA-1433557); (R-HSA-1433559); (R-HSA-164944); (R-HSA-167590); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-210990); (R-HSA-2219530); (R-HSA-2424491); (R-HSA-389356); (R-HSA-389357); (R-HSA-389359); (R-HSA-389513); (R-HSA-389948); (R-HSA-6811558); (R-HSA-9013407); (R-HSA-9020558); (R-HSA-9670439); (R-HSA-9706374)", "pathway_count": 24, "publication_count": 570, "publication_id_list": 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"class_list": "", "function": "A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature. Review article Erratum:[J Clin Immunol. 2024 Jan 16;44(1):41. doi: 10.1007/s10875-024-01654-4. PMID: 38225415] Publication Status: Online-Only, [RefSeq, PubMed]; Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK. Publication Status: Online-Only, [RefSeq, PubMed]; Non-receptor tyrosine-protein kinase that plays an essential role in the selection and maturation of developing T-cells in the thymus and in the function of mature T-cells (PubMed:2470098). Plays a key role in T-cell antigen receptor (TCR)-linked signal transduction pathways (PubMed:2470098). Constitutively associated with the cytoplasmic portions of the CD4 and CD8 surface receptors (PubMed:2470098). Association of the TCR with a peptide antigen-bound MHC complex facilitates the interaction of CD4 and CD8 with MHC class II and class I molecules, respectively, thereby recruiting the associated LCK protein to the vicinity of the TCR-CD3 complex (PubMed:2470098). LCK then phosphorylates tyrosine residues within the immunoreceptor tyrosine-based activation motifs (ITAM) of the cytoplasmic tails of the TCR-gamma chains and CD3 subunits, initiating the TCR-CD3 signaling pathway (PubMed:2470098, PubMed:40592325). Once stimulated, the TCR recruits the tyrosine kinase ZAP70, that becomes phosphorylated and activated by LCK. Following this, a large number of signaling molecules are recruited, ultimately leading to lymphokine production. LCK also contributes to signaling by other receptor molecules. Associates directly with the cytoplasmic tail of CD2, which leads to hyperphosphorylation and activation of LCK. Also plays a role in the IL2 receptor-linked signaling pathway that controls the T-cell proliferative response. Binding of IL2 to its receptor results in increased activity of LCK. Is expressed at all stages of thymocyte development and is required for the regulation of maturation events that are governed by both pre-TCR and mature alpha beta TCR. Phosphorylates other substrates including RUNX3, PTK2B/PYK2, the microtubule-associated protein MAPT, RHOH or TYROBP. Interacts with FYB2 (PubMed:27335501)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Aug 2016]., [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": 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": 21, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DPP8;P07100;Q12850;Q13152;Q5TDH8;Q5TDH9;Q7RTZ3;Q96DW4;Q9NYT8", "ec_number_list": [ { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "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", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "type": "external" } ], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005102 signaling receptor binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0045121 membrane raft", "go_biological_process": "GO:0038094 Fc-gamma receptor signaling pathway;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0035556 intracellular signal transduction;GO:0031295 T cell costimulation;GO:0042110 T cell activation", "synthesized_glycan_count": 0, "hit_score": 57.3, "record_id": "P06239-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48454-1", "uniprot_id": [ { "id": "PP2BC_HUMAN", "url": "https://www.uniprot.org/uniprot/P48454", "type": "external" } ], "mass": 58129.0, "length": 512, "protein_name": "Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform", "gene_name": "PPP3CC", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 1", "refseq_ac": [ { "id": "NP_001230903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230903", "type": "external" } ], "gene_names_uniprotkb": "PPP3CC; CALNA3; CNA3", "gene_names_refseq": "CALNA3; CNA3; PP2Bgamma; PPP3CC", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform; 3.1.3.16; CAM-PRP catalytic subunit; Calcineurin, testis-specific catalytic subunit; Calmodulin-dependent calcineurin A subunit gamma isoform", "protein_names_refseq": "CAM-PRP catalytic subunit; calcineurin, testis-specific catalytic subunit; protein phosphatase 3, catalytic subunit, gamma isozyme; serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:5533); (R-HSA-111447); (R-HSA-180024)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10195903;10604473;10949026;11237011;11697890;12065642;12657644;1339277;15660102;17535922;19154138;23186163;23481700;24715725;25576301;26154972;26375851;26758079;26992070;27846572;27862975;27920218;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30524438;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32502341;32938616;32983136;33141586;33298915;33592498;33936100;33968037;34211107;34357683;34561969;34573382;35051231;35561310;35580925;37660994;38665916;6087160;6296685;6330098;6501302;8663227;9099992;9371714", "class_list": "", "function": "Calcineurin Gamma Catalytic Subunit PPP3CC Inhibition by miR-200c-3p Affects Apoptosis in Epithelial Ovarian Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]; Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals. Dephosphorylates and activates transcription factor NFATC1. Dephosphorylates and inactivates transcription factor ELK1. Dephosphorylates DARPP32., [UniProtKB, PubMed]; LINC-PINT suppresses breast cancer cell proliferation and migration via MEIS2/PPP3CC/NF-kappaB pathway by sponging miR-576-5p., [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": 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": "B4DRT5;Q9BSS6;Q9H4M5", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0033192 calmodulin-dependent protein phosphatase activity;GO:0005516 calmodulin binding;GO:0046872 metal ion binding;GO:0004723 calcium-dependent protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0098793 presynapse", "go_biological_process": "GO:0097720 calcineurin-mediated signaling;GO:1900244 positive regulation of synaptic vesicle endocytosis;GO:0006470 protein dephosphorylation;GO:0070886 positive regulation of calcineurin-NFAT signaling cascade;GO:1905665 positive regulation of calcium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P48454-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20339-1", "uniprot_id": [ { "id": "RAB5A_HUMAN", "url": "https://www.uniprot.org/uniprot/P20339", "type": "external" } ], "mass": 23659.0, "length": 215, "protein_name": "Ras-related protein Rab-5A", "gene_name": "RAB5A", "organism": "Human", "refseq_name": "ras-related protein Rab-5A isoform 2", "refseq_ac": [ { "id": "NP_001278977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278977", "type": "external" } ], "gene_names_uniprotkb": "RAB5A; RAB5", "gene_names_refseq": "RAB5A; RAB5", "protein_names_uniprotkb": "Ras-related protein Rab-5A; 3.6.5.2", "protein_names_refseq": "RAS-associated protein RAB5A; ras-related protein Rab-5A isoform 2; ras-related protein Rab-5A", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); carcinoma (Disease Ontology:DOID:305); kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:5868); (R-HSA-1660499); (R-HSA-8854214); (R-HSA-8856828); (R-HSA-8873719); (R-HSA-8876198); (R-HSA-9636383); (R-HSA-9820960); (R-HSA-983231)", "pathway_count": 9, "publication_count": 529, "publication_id_list": 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"class_list": "", "function": "MiR-451a suppresses the proliferation and migration of high-grade serous ovarian cancer by targeting RAB5A through the Ras/Raf/MEK/ERK pathway., [RefSeq, PubMed]; RAB5A in triple-negative breast cancer: a critical role in macrophage reshaping in an exosomal miR-21-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes and involved in early endocytic trafficking (PubMed:10818110, PubMed:14617813, PubMed:15378032, PubMed:16086013, PubMed:16410077, PubMed:17562788). Required for EEA1 recruitment to early endosomes (PubMed:16086013, PubMed:17562788). Recruits FERRY complex to early endosomes, where FERRY links early endosomes with a subgroup of mRNAs to enable mRNA intracellular distribution (PubMed:37267906). Recruits RABEP1/Rabaptin-5 effector to early endosomes, thereby promoting endocytic membrane fusion (By similarity). Required for EGF and transferrin endocytosis and trafficking through early endosomes (PubMed:16086013, PubMed:17562788). Contributes to the regulation of filopodia extension (PubMed:14978216). Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan (PubMed:22660413). Regulates maturation of apoptotic cell-containing phagosomes, probably downstream of DYN2 and PIK3C3 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Tumor-derived hypoxic small extracellular vesicles promote endothelial cell migration and tube formation via ALS2/Rab5/beta-catenin signaling., [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": 6, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DJA5;Q6FI44", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006897 endocytosis;GO:0031623 receptor internalization;GO:0048169 regulation of long-term neuronal synaptic plasticity;GO:0006909 phagocytosis", "synthesized_glycan_count": 0, "hit_score": 53.2, "record_id": "P20339-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96T68-1", "uniprot_id": [ { "id": "SETB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96T68", "type": "external" } ], "mass": 81894.0, "length": 719, "protein_name": "Histone-lysine N-methyltransferase SETDB2", "gene_name": "SETDB2", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase SETDB2 isoform b", "refseq_ac": [ { "id": "NP_001153780", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153780", "type": "external" } ], "gene_names_uniprotkb": "SETDB2; C13orf4; CLLD8; KMT1F", "gene_names_refseq": "C13orf4; CLLD8; CLLL8; KMT1F; SETDB2", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase SETDB2; 2.1.1.366; Chronic lymphocytic leukemia deletion region gene 8 protein; Lysine N-methyltransferase 1F; SET domain bifurcated 2", "protein_names_refseq": "SET domain bifurcated 2; chronic lymphocytic leukemia deletion region gene 8 protein; histone-lysine N-methyltransferase SETDB2 isoform b; histone-lysine N-methyltransferase SETDB2; lysine N-methyltransferase 1F", "tax_id": 9606, "disease": "", "pathway": " (hsa:83852); (R-HSA-3214841)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10949293;11237011;11306461;11959841;12123582;12130538;12453418;12540855;12670868;12754510;14536086;14690610;14992727;15145825;15235609;15964846;16118227;16199523;16292313;16519522;16682010;16805913;17021013;17500065;17544230;17707229;18172012;19808676;20404330;21131967;21196496;21779408;21832073;22099308;22939622;23481700;25418920;25576301;25645385;25880248;26378653;26572639;26992070;27600516;28228285;28832583;29242379;29557506;30315122;30379171;30429286;30779550;31154438;31844290;32157095;32357974;32387766;32897882;32983136;33592498;33691108;33912179;33981976;34479991;34509645;35580925;36504353;37195726;37217939;38159574;39435663", "class_list": "", "function": "Coronavirus induces diabetic macrophage-mediated inflammation via SETDB2., [RefSeq, PubMed]; Histone lysine methyltransferase SETDB2 suppresses NRF2 to restrict tumor progression and modulates chemotherapy sensitivity in lung adenocarcinoma., [RefSeq, PubMed]; Histone methyltransferase involved in left-right axis specification in early development and mitosis. Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and segregation during mitosis., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Results indicate that the IgE-associated AT/G polymorphism (rs386770867) regulates transcription of SETDB2. Erratum:[Genes Immun. 2017 Jan;18(1):57. doi: 10.1038/gene.2016.22. PMID: 27170559], [RefSeq, PubMed]; Results provide evidence that CLLD8/KMT1F is recruited to heterochromatin regions and contributes in vivo to the deposition of trimethyl marks in concert with SUV39H1/KMT1A.SUV39H1/KMT1A., [RefSeq, PubMed]; Structural evidence for protein-protein interaction between the non-canonical methyl-CpG-binding domain of SETDB proteins and C11orf46., [RefSeq, PubMed]; THE CRITICAL ROLE OF THE HISTONE MODIFICATION ENZYME SETDB2 IN THE PATHOGENESIS OF ACUTE RESPIRATORY DISTRESS SYNDROME., [RefSeq, PubMed]; The STAT3/SETDB2 axis dictates NF-kappaB-mediated inflammation in macrophages during wound repair. Publication Status: Online-Only, [RefSeq, PubMed]; The relation of genetic variation in SETDB2-and its paralogue SETDB1-with different handedness phenotypes in 950 healthy adult participants, was investigated., [RefSeq, PubMed]; This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "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": "Q5TC65;Q5TC66;Q5W0A7;Q659A7;Q86UD6;Q96AI6", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.366", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.366", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0046974 histone H3K9 methyltransferase activity;GO:0140938 histone H3 methyltransferase activity;GO:0140947 histone H3K9me2 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0007059 chromosome segregation;GO:0010629 negative regulation of gene expression;GO:0051301 cell division;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q96T68-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EY9-1", "uniprot_id": [ { "id": "ADAT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EY9", "type": "external" } ], "mass": 39844.0, "length": 367, "protein_name": "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3", "gene_name": "ADAT3", "organism": "Human", "refseq_name": "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3 isoform 2", "refseq_ac": [ { "id": "NP_001316462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316462", "type": "external" } ], "gene_names_uniprotkb": "ADAT3; TAD3", "gene_names_refseq": "ADAT3; FWP005; MRT36; MST121; MSTP121; NEDBGF; S863-5; TAD3", "protein_names_uniprotkb": "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3", "protein_names_refseq": "adenosine deaminase, tRNA-specific 3, TAD3 homolog; probable inactive tRNA-specific adenosine deaminase-like protein 3; tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3 isoform 2; tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3; tRNA-specific adenosine-34 deaminase subunit ADAT3", "tax_id": 9606, "disease": "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies (Disease Ontology:DOID:0081099)", "pathway": " (hsa:113179); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;16959974;17071714;18567810;19017811;19414587;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22995836;23042678;23048041;23381944;23604283;23620220;24126054;24204302;24901367;25261850;25404562;25916855;26160102;26310293;26842963;27055666;31263000;31481669;32763916;35118659;36610787;39894887;9430663;9851972", "class_list": "", "function": "A single missense mutation was identified in ADAT3 in all studied families on an ancient ancestral haplotype., [RefSeq, PubMed]; ADAT3-related intellectual disability is an important recognizable cause of intellectual disability in Arabia, [RefSeq, PubMed]; Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing., [RefSeq, PubMed]; Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder., [RefSeq, PubMed]; Non-catalytic subunit of the tRNA-specific adenosine-34 deaminase complex, composed of the ADAT2 catalytic subunit and the ADAT3 regulatory subunit, which deaminates adenosine-34 (the first, also called wobble position of the anticodon) to inosine in many tRNAs. Inosine-34 allows the decoding of 3 different nucleotides at the third position of mRNA codons, as inosine is able to pair with U, C, and A. Required for binding of the ADAT2-ADAT3 complex to tRNA through its N-terminus, which rotates with respect to the catalytic domain of the complex, formed by ADAT2 and the ADAT3 C-terminal domain, to position the tRNA anticodon stem-loop correctly in the ADAT2 active site. The ADAT2-ADAT3 complex is required for radial migration of projection neurons in the developing brain cortex, and the catalytic activity of the complex is necessary for this function., [UniProtKB, UniProtKB]; Study demonstrates that cells isolated from intellectual disability patients with homozygous for the ADAT3-V144M mutation contain diminished levels of wobble inosine in several tRNA isoacceptors. V144M mutation compromises the adenosine deaminase activity of ADAT2/3 complexes, increases the propensity of ADAT3 to oligomerize, and alters the subcellular localization properties of ADAT3. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5' exon with the overlapping gene, secretory carrier membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul 2016]., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "D6W601;D6W602", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0008033 tRNA processing", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q96EY9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96K78-1", "uniprot_id": [ { "id": "AGRG7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96K78", "type": "external" } ], "mass": 88909.0, "length": 797, "protein_name": "Adhesion G protein-coupled receptor G7", "gene_name": "ADGRG7", "organism": "Human", "refseq_name": "adhesion G-protein coupled receptor G7 isoform 1 precursor", "refseq_ac": [ { "id": "NP_116176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116176", "type": "external" } ], "gene_names_uniprotkb": "ADGRG7; GPR128", "gene_names_refseq": "ADGRG7; GPR128", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor G7; G protein-coupled receptor 128", "protein_names_refseq": "G-protein coupled receptor 128; adhesion G-protein coupled receptor G7 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:84873)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12565841;17081983;19797732;23481700;25713288;29393594;29557506;32983136;33091337;33592498;34087483;35051231;37217939;38786015", "class_list": "", "function": "An expressed in-frame TRK-fused gene-G-protein-coupled receptor GPR128 is identified in healthy individuals and in patients with myeloproliferative neoplasms., [RefSeq, PubMed]; Orphan receptor., [UniProtKB]; Upregulation of mRNA Expression of ADGRD1/GPR133 and ADGRG7/GPR128 in SARS-CoV-2-Infected Lung Adenocarcinoma Calu-3 Cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 11, "predicted_n_glycosites": 10, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q14D94;Q86SQ2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q96K78-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PE1-1", "uniprot_id": [ { "id": "AGRA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PE1", "type": "external" } ], "mass": 142647.0, "length": 1338, "protein_name": "Adhesion G protein-coupled receptor A2", "gene_name": "ADGRA2", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor A2 precursor", "refseq_ac": [ { "id": "NP_116166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116166", "type": "external" } ], "gene_names_uniprotkb": "ADGRA2; GPR124; KIAA1531; TEM5", "gene_names_refseq": "ADGRA2; GPR124; TEM5", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor A2; G protein-coupled receptor 124; Tumor endothelial marker 5", "protein_names_refseq": "G-protein coupled receptor 124; adhesion G protein-coupled receptor A2 precursor; tumor endothelial marker 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:25960)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11559528;12565841;15021905;16982628;21421844;22013897;24275569;24501278;24925318;28289266;29351928;29557506;30026314;30429286;30459171;30524438;31154438;31848261;32157095;32350084;32387766;32897882;32938616;32991049;34509645;35051231;35649360;36010968;37074911;37694534", "class_list": "", "function": "An integrated model for Gpr124 function in Wnt7a/b signaling among vertebrates., [RefSeq, PubMed]; Down-regulated Wnt7a and GPR124 in early-onset preeclampsia placentas reduce invasion and migration of trophoblast cells. Publication Status: Online-Only, [RefSeq, PubMed]; Endothelial receptor which functions together with RECK to enable brain endothelial cells to selectively respond to Wnt7 signals (WNT7A or WNT7B) (PubMed:28289266, PubMed:30026314). Plays a key role in Wnt7-specific responses, such as endothelial cell sprouting and migration in the forebrain and neural tube, and establishment of the blood-brain barrier (By similarity). Acts as a Wnt7-specific coactivator of canonical Wnt signaling: required to deliver RECK-bound Wnt7 to frizzled by assembling a higher-order RECK-ADGRA2-Fzd-LRP5-LRP6 complex (PubMed:30026314). ADGRA2-tethering function does not rely on its G protein-coupled receptor (GPCR) structure but instead on its combined capacity to interact with RECK extracellularly and recruit the Dishevelled scaffolding protein intracellularly (PubMed:30026314). Binds to the glycosaminoglycans heparin, heparin sulfate, chondroitin sulfate and dermatan sulfate (PubMed:16982628)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Proteolytically processed soluble tumor endothelial marker TEM5 mediates endothelial cell survival during angiogenesis by linking integrin alpha(v)beta3 to glycosaminoglycans, [RefSeq, PubMed]; Variants of WNT7A and GPR124 are associated with hemorrhagic transformation following intravenous thrombolysis in ischemic stroke., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "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": 3, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A6H8W3;D3DSW4;Q8N3R1;Q8TEM3;Q96KB2;Q9P1Z7;Q9UFY4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0030175 filopodium;GO:1990909 Wnt signalosome", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007417 central nervous system development;GO:0043542 endothelial cell migration;GO:0060070 canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q96PE1-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP70-1", "uniprot_id": [ { "id": "AMBN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP70", "type": "external" } ], "mass": 48283.0, "length": 447, "protein_name": "Ameloblastin", "gene_name": "AMBN", "organism": "Human", "refseq_name": "ameloblastin precursor", "refseq_ac": [ { "id": "NP_057603", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057603", "type": "external" } ], "gene_names_uniprotkb": "AMBN", "gene_names_refseq": "AI1F; AMBN", "protein_names_uniprotkb": "Ameloblastin", "protein_names_refseq": "ameloblastin precursor; enamel matrix protein", "tax_id": 9606, "disease": "amelogenesis imperfecta type 1F (Disease Ontology:DOID:0110065)", "pathway": " (hsa:258); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10946765;10951195;10990447;11054529;11158056;11250653;11264294;11316783;11330937;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;17047378;17249697;17312271;17985932;2476804;2479552;24858907;25892735;26091039;28228285;31402633;35051231;38058155;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Ameloblastin is critical for the initiation of enamel ribbon formation, and its absence results in pathological mineralization within the enamel organ epithelia., [RefSeq, PubMed]; Involved in the mineralization and structural organization of enamel., [UniProtKB]; Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes., [RefSeq, PubMed]; This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3B862;Q9H2X1;Q9H4L1", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity;GO:0030345 structural constituent of tooth enamel", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0007155 cell adhesion;GO:0042127 regulation of cell population proliferation;GO:0042475 odontogenesis of dentin-containing tooth;GO:0031214 biomineral tissue development", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9NP70-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHB7-1", "uniprot_id": [ { "id": "AFF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHB7", "type": "external" } ], "mass": 127459.0, "length": 1163, "protein_name": "AF4/FMR2 family member 4", "gene_name": "AFF4", "organism": "Human", "refseq_name": "AF4/FMR2 family member 4", "refseq_ac": [ { "id": "NP_055238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055238", "type": "external" } ], "gene_names_uniprotkb": "AFF4; AF5Q31; HSPC092; MCEF", "gene_names_refseq": "AF5Q31; AFF4; CHOPS; MCEF", "protein_names_uniprotkb": "AF4/FMR2 family member 4; ALL1-fused gene from chromosome 5q31 protein; Major CDK9 elongation factor-associated protein; Protein AF-5q31", "protein_names_refseq": "AF4/FMR2 family member 4; ALL1-fused gene from chromosome 5q31 protein; major CDK9 elongation factor-associated protein", "tax_id": 9606, "disease": "skin melanoma (Disease Ontology:DOID:8923); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome (MONDO:MONDO:0014609)", "pathway": " (hsa:27125); (R-HSA-112382); (R-HSA-674695); (R-HSA-75955)", "pathway_count": 4, "publication_count": 121, "publication_id_list": "10199401;10588740;11237011;11313498;11313499;11859374;11884399;12065898;12676794;15489290;16964243;17081983;17234882;17322306;17389929;17525332;18077418;18220336;18452278;18669648;18691976;19369195;1939271;19413330;19651622;19664994;19664995;19690332;19691289;19952111;20068230;20068231;20159561;20471948;21248752;22195968;22483617;22895430;23186163;23251033;23481700;24275569;24397554;2449431;24715725;25576301;25645385;25730767;26154972;26659056;26811146;26992070;27397612;27600516;27846572;27862975;27869121;27920218;28228285;28514659;28832583;28904123;29242379;29393594;29485866;29493099;29508533;29557506;29632711;29786170;30059200;30134174;30315122;30379171;30429286;30620550;30779550;31154438;31637018;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33936100;33968037;33981976;34087483;34171305;34185709;34211107;35051231;35318648;35580925;36010968;36284347;37217939;37528066;37609817;37731335;37815186;37938771;39414635;39603240;7660122;7660129;7660130;8370526;9450929;9489704", "class_list": "", "function": "AFF4 globally affects the release of paused RNA polymerase II in HEL cells., [RefSeq, PubMed]; AFF4 regulates osteogenic potential of human periodontal ligament stem cells via mTOR-ULK1-autophagy axis., [RefSeq, PubMed]; Data describe the cloning and expression of MCEF, a member of the AF4 family of transcription factors involved in acute lymphoblastic leukemia. [MCEF], [RefSeq, PubMed]; Distinct roles of two SEC scaffold proteins, AFF1 and AFF4, in regulating RNA polymerase II transcription elongation., [RefSeq, PubMed]; Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression., [UniProtKB, PubMed, PubMed, PubMed]; MCEF has 21 exons & 7 nuclear localization sequence. 3 protein sequences, coded by 3 exons, mediate nuclear localization. Ectopic expression of MCEF repressed HIV-1 LTR-directed RNA polymerase II transcription, at the level of Tat-transactivation. Publication Status: Online-Only, [RefSeq, PubMed]; N6-methyladenosine-modified circCDK14 promotes ossification of the ligamentum flavum via epigenetic modulation by targeting AFF4. Publication Status: Online-Only, [RefSeq, PubMed]; The Biological Significance of AFF4: Promoting Transcription Elongation, Osteogenic Differentiation and Tumor Progression. Review article, [RefSeq, PubMed]; The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]., [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": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 44, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B2RP19;B7WPD2;Q498B2;Q59FB3;Q6P592;Q8TDR1;Q9P0E4", "ec_number_list": [], "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0008023 transcription elongation factor complex;GO:0001650 fibrillar center;GO:0016604 nuclear body;GO:0000791 euchromatin", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0050877 nervous system process;GO:0006354 DNA-templated transcription elongation;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q9UHB7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKF5-1", "uniprot_id": [ { "id": "ADA29_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKF5", "type": "external" } ], "mass": 92759.0, "length": 820, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 29", "gene_name": "ADAM29", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 29 preproprotein", "refseq_ac": [ { "id": "NP_001124175", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124175", "type": "external" } ], "gene_names_uniprotkb": "ADAM29", "gene_names_refseq": "ADAM29; CT73; svph1", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 29; ADAM 29; CT73; Cancer/testis antigen 73", "protein_names_refseq": "a disintegrin and metalloproteinase domain 29; cancer/testis antigen 73; disintegrin and metalloproteinase domain-containing protein 29 preproprotein; disintegrin and metalloproteinase domain-containing protein 29; epididymis secretory sperm binding protein; metallaproteinase-disintegrin (ADAM29); testis secretory sperm-binding protein Li 207a", "tax_id": 9606, "disease": "", "pathway": " (hsa:11086)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10512762;10644455;11237011;15802535;16959974;19340428;21618342;23481700;24732660;26977022;29242379;29557506;31530632;33912179;35051231", "class_list": "", "function": "Increased transcript expression of ADAM29 was observed in breast cancer tissues compared to normal ones. The expression of ADAM29 and its mutations in different domains significantly influenced proliferation, migration and invasion of breast cancer cells in vitro., [RefSeq, PubMed]; May be involved in spermatogenesis and fertilization. Seems to be a non catalytic metalloprotease-like protein., [UniProtKB]; Mutated ADAM27 and ADAM7 genes could play a role in melanoma progression., [RefSeq, PubMed]; PCMC expression of ADAM29, FLRT2, and SLC18A3 could be assessed as part of a routine screen to help identify individuals at risk of severe Obstructive sleep apnea in Asian populations, [RefSeq, PubMed]; Quantification of LPL and ADAM29 gene expression is a strong prognostic indicator in CLL, providing better prognostic assessment than ZAP-70 in advanced stages of the disease, [RefSeq, PubMed]; Results support the use of LPL and ADAM29 gene expression associated to IGHV mutational status for predicting the clinical outcome of patients treated by oral fludarabine + cyclophosphamide and could be considered for treatment strategies., [RefSeq, PubMed]; This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 13, "predicted_n_glycosites": 9, "predicted_o_glycosites": 4, "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": 54, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q4W5F3;Q9UHP1;Q9UKF3;Q9UKF4", "ec_number_list": [], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:1990913 sperm head plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007283 spermatogenesis;GO:0008584 male gonad development", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9UKF5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2T2-1", "uniprot_id": [ { "id": "AP3M1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2T2", "type": "external" } ], "mass": 46939.0, "length": 418, "protein_name": "AP-3 complex subunit mu-1", "gene_name": "AP3M1", "organism": "Human", "refseq_name": "AP-3 complex subunit mu-1 isoform a", "refseq_ac": [ { "id": "NP_001307192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307192", "type": "external" } ], "gene_names_uniprotkb": "AP3M1", "gene_names_refseq": "AP3M1", "protein_names_uniprotkb": "AP-3 complex subunit mu-1; AP-3 adaptor complex mu3A subunit; Adaptor-related protein complex 3 subunit mu-1; Mu-adaptin 3A; Mu3A-adaptin", "protein_names_refseq": "AP-3 adapter complex mu3A subunit; AP-3 complex subunit mu-1 isoform a; AP-3 complex subunit mu-1; adapter-related protein complex 3 mu-1 subunit; adaptor related protein complex 3 mu 1 subunit; clathrin adaptor complex AP3, mu-3A subunit; mu-adaptin 3A; mu3A-adaptin", "tax_id": 9606, "disease": "", "pathway": " (hsa:26985); (R-HSA-390471)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10024875;12502735;18775504;19011634;20112406;21098288;21995946;22424782;22544926;23481700;23747015;24366607;24397554;24715725;24756126;25342745;25418920;25467444;25576301;25645385;25802875;25892735;26154972;26375851;26811146;26929215;26992070;27846572;28228285;28352266;28904123;29028839;29437277;29493099;29557506;30410026;30429286;30484775;31020640;31217245;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34509645;34932366;35051231;35154160;35561310;35580925;36010968;36215666;36241641;36284347;37938771;39302247;40914422;9819444", "class_list": "", "function": "Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals., [UniProtKB]; The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [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": 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": 0, "reported_mutagensis": 0, "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": "Q5JQ12;Q9H5L2", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0098837 postsynaptic recycling endosome;GO:0005769 early endosome;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:1903232 melanosome assembly;GO:0098884 postsynaptic neurotransmitter receptor internalization;GO:0006897 endocytosis;GO:0060155 platelet dense granule organization;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9Y2T2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55198-1", "uniprot_id": [ { "id": "AF17_HUMAN", "url": "https://www.uniprot.org/uniprot/P55198", "type": "external" } ], "mass": 112048.0, "length": 1093, "protein_name": "Protein AF-17", "gene_name": "MLLT6", "organism": "Human", "refseq_name": "protein AF-17", "refseq_ac": [ { "id": "NP_005928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005928", "type": "external" } ], "gene_names_uniprotkb": "MLLT6; AF17", "gene_names_refseq": "AF17; MLLT6", "protein_names_uniprotkb": "Protein AF-17; ALL1-fused gene from chromosome 17 protein", "protein_names_refseq": "ALL1-fused gene from chromosome 17 protein; KMT2A-MLLT6 fusion protein; KMT2A/MLLT6 fusion; MLLT6, PHD finger domain containing; MLLT6/KMT2A fusion; Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); myeloid/lymphoid or mixed-lineage leukemia; protein AF-17; translocated to, 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:4302)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;16086288;17081983;18767875;19690332;19864429;20068231;22087315;23186163;23301498;24715725;25576301;26439302;26992070;28411811;28514659;28904123;29242379;29351928;29393594;29557506;30059200;30315122;30379171;30397120;30524438;31492838;31844290;32157095;32387766;32574038;32897882;32938616;32938750;32983136;33063451;33214551;33592498;33912179;33968037;34019948;34846842;35051231;35132862;35254053;35289036;35513511;36284347;37340703;39531497;39534244;40136647;8058765", "class_list": "", "function": "AF17 competes with AF9 to bind Dot1a, decreases Dot1a nuclear expression by possibly facilitating its nuclear export, and relieves Dot1a.AF9-mediated repression of alpha-ENaC and other target genes., [RefSeq, PubMed]; In the Acute Myeloid Leukemia patients, detected MLL rearrangements consisting of MLL/AF6, MLL/AF9, MLL/AF17 , MLL/ELL and MLL partial tandem duplication. MLL rearrangement include chromosome translocation and partial tandem duplication., [RefSeq, PubMed]; Involved in the stimulation of renal sodium reabsorption mediated by the epithelial sodium channel (ENaC) (By similarity). Upregulates ENaC expression in renal collecting duct cells by promoting DOT1L export from the nucleus to the cytoplasm, thus limiting DOT1L-mediated H3K79 methylation and transcriptional repression at the SCNN1A promoter (PubMed:19864429, PubMed:22087315)., [UniProtKB, PubMed, UniProtKB, PubMed]; MLLT6 maintains PD-L1 expression and mediates tumor immune resistance., [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": 31, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 31, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 31, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 31, "binding_glycan_count": 0, "secondary_ac_list": "Q59F28;Q96IU3;Q9H5F6;Q9UF49", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042393 histone binding;GO:0031491 nucleosome binding;GO:0140566 histone reader activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "P55198-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20292-1", "uniprot_id": [ { "id": "AL5AP_HUMAN", "url": "https://www.uniprot.org/uniprot/P20292", "type": "external" } ], "mass": 18157.0, "length": 161, "protein_name": "Arachidonate 5-lipoxygenase-activating protein", "gene_name": "ALOX5AP", "organism": "Human", "refseq_name": "arachidonate 5-lipoxygenase-activating protein isoform 2", "refseq_ac": [ { "id": "NP_001191335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191335", "type": "external" } ], "gene_names_uniprotkb": "ALOX5AP; FLAP", "gene_names_refseq": "ALOX5AP; FLAP", "protein_names_uniprotkb": "Arachidonate 5-lipoxygenase-activating protein; FLAP; MK-886-binding protein", "protein_names_refseq": "MK-886-binding protein; arachidonate 5-lipoxygenase-activating protein isoform 2", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); common cold (Disease Ontology:DOID:10459); breast cancer (Disease Ontology:DOID:1612); cerebral palsy (Disease Ontology:DOID:1969); arteriosclerosis (Disease Ontology:DOID:2349); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); coronary artery disease (Disease Ontology:DOID:3393); brain infarction (Disease Ontology:DOID:3454); cerebral infarction (Disease Ontology:DOID:3526); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); neuroblastoma (Disease Ontology:DOID:769); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:241); (R-HSA-2142688); (R-HSA-2142691); (R-HSA-2142700)", "pathway_count": 4, "publication_count": 84, "publication_id_list": "10064732;10549853;10779545;10837478;11115402;11237011;11844797;1359745;14770184;15604543;15772423;1673682;16795963;17304054;17600184;18184802;1848634;18647347;19082953;19233132;19743890;20436887;21447318;2155925;22661428;2300173;23076889;26154972;26992070;27046942;2753893;2768222;2836406;2864155;2866075;2877850;2882965;28904123;29133059;29557506;2995393;3006030;3020588;30669;31092671;31154438;3118366;3164719;31844290;31848261;32157095;32165305;32387766;33454679;33912179;34171305;34357683;34932366;35051231;35561310;35580925;3563417;3579953;37344882;3770188;39169376;3933675;40307207;6089195;6122208;6293969;6422933;6490615;6816802;7568157;7937884;8052639;8245774;8250832;8394361;8428933;8440384;8576264;9461497", "class_list": "", "function": "ALOX5AP suppresses osteosarcoma progression via Wnt/beta-catenin/EMT pathway and associates with clinical prognosis and immune infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; ASSOCIATION BETWEEN SINGLE POLYMORPHISM IN THE LOCUS RS17216473 OF THE GENE THAT ENCODES 5-LIPOXYGENASE-ACTIVATING PROTEIN AND RISK OF MYOCARDIAL INFARCTION., [RefSeq, PubMed]; Integrated bioinformatics analysis and experimental validation reveal the relationship between ALOX5AP and the prognosis and immune microenvironment in glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Required for leukotriene biosynthesis by ALOX5 (5-lipoxygenase). Anchors ALOX5 to the membrane. Binds arachidonic acid, and could play an essential role in the transfer of arachidonic acid to ALOX5. Binds to MK-886, a compound that blocks the biosynthesis of leukotrienes., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The study was designed to investigate the association between the polymorphism of the ALOX5 gene (rs12762303) and the ALOX5AP gene (rs3802278), and diabetic nephropathy (DN) in patients with type 2 diabetes mellitus., [RefSeq, PubMed]; This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5VV04", "ec_number_list": [], "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0004464 leukotriene-C4 synthase activity;GO:0008047 enzyme activator activity;GO:0050544 arachidonate binding;GO:0004602 glutathione peroxidase activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0071277 cellular response to calcium ion;GO:0019370 leukotriene biosynthetic process;GO:0070207 protein homotrimerization", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P20292-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A5PLL1-1", "uniprot_id": [ { "id": "AN34B_HUMAN", "url": "https://www.uniprot.org/uniprot/A5PLL1", "type": "external" } ], "mass": 56414.0, "length": 514, "protein_name": "Ankyrin repeat domain-containing protein 34B", "gene_name": "ANKRD34B", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 34B", "refseq_ac": [ { "id": "NP_001004441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004441", "type": "external" } ], "gene_names_uniprotkb": "ANKRD34B", "gene_names_refseq": "ANKRD34B; DP58", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 34B", "protein_names_refseq": "ankyrin repeat domain-containing protein 34B; cytosolic phosphoprotein DP58; dendritic phosphoprotein 58 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:340120)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;35051231;35628134", "class_list": "", "function": "Age-Related DNA Methylation in Normal Kidney Tissue Identifies Epigenetic Cancer Risk Susceptibility Loci in the ANKRD34B and ZIC1 Genes. 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, "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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "B2RPH1;Q68D79", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0071546 pi-body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A5PLL1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6QL64-1", "uniprot_id": [ { "id": "AN36A_HUMAN", "url": "https://www.uniprot.org/uniprot/A6QL64", "type": "external" } ], "mass": 214500.0, "length": 1915, "protein_name": "Ankyrin repeat domain-containing protein 36A", "gene_name": "ANKRD36", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 36A isoform 1", "refseq_ac": [ { "id": "NP_001341516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001341516", "type": "external" } ], "gene_names_uniprotkb": "ANKRD36; ANKRD36A; KIAA1641; PRO499", "gene_names_refseq": "ANKRD36; UNQ2430", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 36A", "protein_names_refseq": "ankyrin repeat domain-containing protein 36A isoform 1; ankyrin repeat domain-containing protein 36A; ankyrin repeat domain-containing protein 36; ankyrin-related", "tax_id": 9606, "disease": "", "pathway": " (hsa:375248)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12975309;30620550;33912179;34041646;34615377;35051231;35074490;37217939", "class_list": "", "function": "ANKRD36 Is Involved in Hypertension by Altering Expression of ENaC Genes., [RefSeq, PubMed]; CircANKRD36 Knockdown Suppressed Cell Viability and Migration of LPS-Stimulated RAW264.7 Cells by Sponging MiR-330., [RefSeq, PubMed]; Mechanism of CircANKRD36 regulating cell heterogeneity and endothelial mesenchymal transition in aortic valve stromal cells by regulating miR-599 and TGF-beta signaling pathway., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "A0A494C0M0;B4E3I8;Q6UX02;Q86X62;Q9HCD1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "A6QL64-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14514-1", "uniprot_id": [ { "id": "AGRB1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14514", "type": "external" } ], "mass": 173501.0, "length": 1584, "protein_name": "Adhesion G protein-coupled receptor B1", "gene_name": "ADGRB1", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor B1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001693", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001693", "type": "external" } ], "gene_names_uniprotkb": "ADGRB1; BAI1", "gene_names_refseq": "ADGRB1; BAI1; GDAIF", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor B1; Brain-specific angiogenesis inhibitor 1", "protein_names_refseq": "adhesion G protein-coupled receptor B1 isoform 1 precursor; brain-specific angiogenesis inhibitor 1", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); invasive ductal carcinoma (Disease Ontology:DOID:3008); glioblastoma (Disease Ontology:DOID:3068); malignant astrocytoma (Disease Ontology:DOID:3069); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); renal cell carcinoma (Disease Ontology:DOID:4450); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:575)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10.1101/2023.09.13.557529;10343108;10748157;11237011;11875720;12074842;12507886;15782143;19176395;22330140;22333914;23186163;23595754;23782696;24509909;26710850;26838550;26992070;28904123;29557506;29769354;31844290;32255478;32614850;33043033;33392160;33934543;34475070;35051231;35738517;36010968;37217939;9393972;9647739;9790924", "class_list": "", "function": "Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008]., [RefSeq]; BAI1 acts as a tumor suppressor in lung cancer A549 cells by inducing metabolic reprogramming via the SCD1/HMGCR module., [RefSeq, PubMed]; BAI1 as a Prognostic Marker of Clear Cell Renal Cell Carcinoma (ccRCC)., [RefSeq, PubMed]; BAI1 nuclear expression reflects the survival of nonsmoking non-small cell lung cancer patients., [RefSeq, PubMed]; Brain-specific angiogenesis inhibitor 1 is expressed in the Myo/Nog cell lineage. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits angiogenesis in a CD36-dependent manner., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Inhibits angiogenesis., [UniProtKB, PubMed]; Maternal exposure to atmospheric PM2.5 and fetal brain development: Associations with BAI1 methylation and thyroid hormones., [RefSeq, PubMed]; Phosphatidylserine receptor which enhances the engulfment of apoptotic cells (PubMed:24509909). Also mediates the binding and engulfment of Gram-negative bacteria (PubMed:26838550). Stimulates production of reactive oxygen species by macrophages in response to Gram-negative bacteria, resulting in enhanced microbicidal macrophage activity (PubMed:26838550). In the gastric mucosa, required for recognition and engulfment of apoptotic gastric epithelial cells (PubMed:24509909). Promotes myoblast fusion (By similarity). Activates the Rho pathway in a G protein-dependent manner (PubMed:23782696). Inhibits MDM2-mediated ubiquitination and degradation of DLG4/PSD95, promoting DLG4 stability and regulating synaptic plasticity (By similarity). Required for the formation of dendritic spines by ensuring the correct localization of PARD3 and TIAM1 (By similarity). Potent inhibitor of angiogenesis in brain and may play a significant role as a mediator of the p53/TP53 signal in suppression of glioblastoma (PubMed:11875720)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 5, "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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 7, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0030165 PDZ domain binding;GO:0001530 lipopolysaccharide binding;GO:0001786 phosphatidylserine binding", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005925 focal adhesion", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007409 axonogenesis", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "O14514-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75969-1", "uniprot_id": [ { "id": "AKAP3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75969", "type": "external" } ], "mass": 94751.0, "length": 853, "protein_name": "A-kinase anchor protein 3", "gene_name": "AKAP3", "organism": "Human", "refseq_name": "A-kinase anchor protein 3", "refseq_ac": [ { "id": "NP_001265238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265238", "type": "external" } ], "gene_names_uniprotkb": "AKAP3; AKAP110; SOB1", "gene_names_refseq": "AKAP 110; AKAP110; AKAP3; CT82; FSP95; HEL159; PRKA3; SOB1; SPGF82", "protein_names_uniprotkb": "A-kinase anchor protein 3; A-kinase anchor protein 110 kDa; AKAP 110; AKAP-3; CT82; Cancer/testis antigen 82; FSP95; Fibrous sheath protein of 95 kDa; Fibrousheathin I; Fibrousheathin-1; PRKA3; Protein kinase A-anchoring protein 3; Sperm oocyte-binding protein", "protein_names_refseq": "A kinase (PRKA) anchor protein 3; A-kinase anchor protein 3; A-kinase anchor protein, 110kDa; Fibrous Sheath Protein of 95 kDa; cancer/testis antigen 82; epididymis luminal protein 159; epididymis secretory sperm binding protein; fibrousheathin I; fibrousheathin-1; protein kinase A binding protein AKAP 110; protein kinase A-anchoring protein 3; sperm oocyte-binding protein 1", "tax_id": 9606, "disease": "spermatogenic failure 82 (Disease Ontology:DOID:0070581)", "pathway": " (hsa:10566)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10319321;10334916;10529264;11237011;11278869;12509440;16959974;29557506;30683861;34171305;34944009;35051231;35228300;35256641;35322748", "class_list": "", "function": "Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility., [RefSeq, PubMed]; Protein Kinase A (PRKA) Activity Is Regulated by the Proteasome at the Onset of Human Sperm Capacitation. Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of sperm fibrous sheath (By similarity). Required for the formation of the subcellular structure of the sperm flagellum, sperm motility and male fertility (PubMed:35228300)., [UniProtKB, PubMed, UniProtKB]; Structural modeling of human AKAP3 protein and in silico analysis of single nucleotide polymorphisms associated with sperm motility. Publication Status: Online-Only, [RefSeq, PubMed]; The cancer-testis antigen a-kinase anchor protein 3 facilitates breast cancer progression via activation of the PTEN/PI3K/AKT/mTOR signaling., [RefSeq, PubMed]; This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 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": 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": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O75945;Q86X01;Q9UM61", "ec_number_list": [], "go_molecular_function": "GO:0051018 protein kinase A binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0001669 acrosomal vesicle;GO:0035686 sperm fibrous sheath;GO:0097228 sperm principal piece", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0007338 single fertilization;GO:0007340 acrosome reaction;GO:0045184 establishment of protein localization;GO:0007178 cell surface receptor protein serine/threonine kinase signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "O75969-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15084-3", "uniprot_id": [ { "id": "ANR28_HUMAN", "url": "https://www.uniprot.org/uniprot/O15084", "type": "external" } ], "mass": 112966.0, "length": 1053, "protein_name": "Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A", "gene_name": "ANKRD28", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform b", "refseq_ac": [ { "id": "NP_001182027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027", "type": "external" } ], "gene_names_uniprotkb": "ANKRD28; KIAA0379", "gene_names_refseq": "ANKRD28; CFAP79; FAP79; PITK; PPP1R65", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A; Ankyrin repeat domain-containing protein 28; PITK; PP6-ARS-A; Phosphatase interactor targeting protein hnRNP K; Serine/threonine-protein phosphatase 6 regulatory subunit ARS-A", "protein_names_refseq": "PP6-ARS-A; ankyrin repeat domain-containing protein 28; phosphatase interactor targeting K protein; phosphatase interactor targeting protein hnRNP K; protein phosphatase 1, regulatory subunit 65; protein phosphatase 6 ankyrin repeat subunit A; serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform b; serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A; serine/threonine-protein phosphatase 6 regulatory subunit ARS-A", "tax_id": 9606, "disease": "", "pathway": " (hsa:23243); (R-HSA-171319); (R-HSA-204005)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10.1101/2023.09.13.557529;10445031;10559959;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11285137;11306556;11927603;12070132;12235121;12699629;15037235;15060173;15189140;16303754;16339074;16495487;16522649;16564677;16624868;16912714;17005010;17023142;17038314;17172855;17192411;17287728;17316621;17395830;17562788;17684057;18186651;18358808;18523010;18669648;18691976;18843296;19164740;19179534;19383767;19638414;19656848;19734544;20068231;20404094;20524933;20545907;20679433;20966969;21478858;21532587;21689688;22013193;22157747;22579284;22675024;22869377;23103865;23186163;23378591;23479643;23657261;23698585;23864707;24119662;24366607;24715725;24917561;25128433;25202031;25271372;25406594;25492864;25576301;25586378;25619252;25620558;25645385;25880248;26992070;27600516;27920218;28218747;28657654;28832583;28904123;29178645;29242379;29437277;29695869;30429286;30779550;31530632;31723267;31844290;32157095;32357974;32502341;32897882;32938616;33592498;33912179;33968037;33981976;34087483;34185709;34357683;35051231;35251023;35512830;36241641;36740786;37217939;40914422;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9647643", "class_list": "", "function": "CaMKII and GSK3 mediate regulation of PITK., [RefSeq, PubMed]; CircANKRD28 inhibits cisplatin resistance in non-small-cell lung cancer through the miR-221-3p/SOCS3 axis., [RefSeq, PubMed]; Regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF. Selectively inhibits the phosphatase activity of PPP1C. Targets PPP1C to modulate HNRPK phosphorylation. Involved in the PP6-mediated dephosphorylation of MOB1 and induced focal adhesion assembly during cell migration (PubMed:35512830)., [UniProtKB, PubMed, PubMed, PubMed]; These findings provide a putative mechanism by which transcriptional activity of hnRNP K can be discretely controlled through the regulation of PP1 activity., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DES5;Q1WWL4;Q29RW6;Q3B857;Q6ULS0;Q6ZT57", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0030027 lamellipodium;GO:0008287 protein serine/threonine phosphatase complex", "go_biological_process": "GO:0051894 positive regulation of focal adhesion assembly", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "O15084-3", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08588-1", "uniprot_id": [ { "id": "ADRB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P08588", "type": "external" } ], "mass": 51224.0, "length": 477, "protein_name": "Beta-1 adrenergic receptor", "gene_name": "ADRB1", "organism": "Human", "refseq_name": "beta-1 adrenergic receptor", "refseq_ac": [ { "id": "NP_000675", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000675", "type": "external" } ], "gene_names_uniprotkb": "ADRB1; ADRB1R; B1AR", "gene_names_refseq": "ADRB1R; ADRB1; B1AR; BETA1AR; FNSS2; RHR", "protein_names_uniprotkb": "Beta-1 adrenergic receptor; Beta-1 adrenoceptor; Beta-1 adrenoreceptor", "protein_names_refseq": "adrenergic, beta-1-, receptor; beta-1 adrenergic receptor; beta-1 adrenoceptor; beta-1 adrenoreceptor", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); hypertension (Disease Ontology:DOID:10763); nephrosclerosis (Disease Ontology:DOID:11664); dilated cardiomyopathy (Disease Ontology:DOID:12930); low tension glaucoma (Disease Ontology:DOID:13544); cystic fibrosis (Disease Ontology:DOID:1485); renovascular hypertension (Disease Ontology:DOID:1591); aortic valve stenosis (Disease Ontology:DOID:1712); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); hyperglycemia (Disease Ontology:DOID:4195); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); periodontitis (Disease Ontology:DOID:824); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:153); (R-HSA-390696); (R-HSA-418555)", "pathway_count": 3, "publication_count": 100, "publication_id_list": "10212248;10215710;10321720;10477438;10531390;11007482;11052857;11854867;12036966;12058044;12106601;12180353;12270132;12391161;12428542;12860470;1328250;13549488;14671004;14990580;1517224;15358775;15655528;15765929;15769620;15951850;16313925;16480771;16687412;16923326;17052695;17168849;17170109;18044684;18577758;19105585;1980236;19876791;19929708;20381629;20587416;20871122;21036126;21118696;21540189;2163110;2172775;23148172;2417744;24687066;24890609;2491850;2553411;2553705;2570461;26417854;27965369;28167537;28228285;2823383;2825170;28400472;28472170;2871555;29425252;29443750;29602314;3025863;30833991;3127824;31279028;31399091;31473062;31848261;31983287;32226383;32497535;32540603;32618402;32715661;33049737;33093660;33556394;36997634;37606047;38032435;38138160;38211639;6085243;7539084;7746284;8340388;8396931;8514797;8564227;8672451;9263355;9417641;9605427;9651336", "class_list": "", "function": "An extensive beta1-adrenergic receptor gene signaling network regulates molecular remodeling in dilated cardiomyopathies. Publication Status: Online-Only, [RefSeq, PubMed]; Associations between Selected ADRB1 and CYP2D6 Gene Polymorphisms in Children with Ventricular and Supraventricular Arrhythmias. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled estrogen receptor (GPER)/GPR30 forms a complex with the beta1-adrenergic receptor, a membrane-associated guanylate kinase (MAGUK) scaffold protein, and protein kinase A anchoring protein (AKAP) 5 in MCF7 breast cancer cells., [RefSeq, PubMed]; G protein-coupled receptor for catecholamines that couples to G(s) proteins to activate adenylate cyclase and cAMP-dependent pathway (PubMed:10212248, PubMed:12391161, PubMed:15358775). Binds epinephrine and norepinephrine with approximately equal affinity (PubMed:33093660). Mediates the activation of Ras via binding with cAMP-dependent RAPGEF2 (PubMed:12391161). As part of the sympathetic nervous system, plays a role in the physiologic regulation of cardiac functions such as stimulation of cardiomyocyte contraction (PubMed:11052857). Also delivers proapoptotic signals in cardiomyocytes (By similarity). Involved in the regulation of sleep/wake behaviors (PubMed:11854867, PubMed:31473062)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Rs1801253 Gly/Gly carriage in the ADRB1 gene leads to unbalanced cardiac sympathetic modulation as assessed by spectral analysis of heart rate variability., [RefSeq, PubMed]; The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Sep 2019]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 1, "mined_o_glycosites": 3, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "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": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 14, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B0LPE2;Q5T5Y4;Q9UKG7;Q9UKG8", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0031694 alpha-2A adrenergic receptor binding;GO:0004939 beta-adrenergic receptor activity;GO:0030165 PDZ domain binding;GO:0004940 beta1-adrenergic receptor activity", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0098685 Schaffer collateral - CA1 synapse", "go_biological_process": "GO:0045187 regulation of circadian sleep/wake cycle, sleep;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0043410 positive regulation of MAPK cascade;GO:0071880 adenylate cyclase-activating adrenergic receptor signaling pathway;GO:0002025 norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "P08588-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000110001001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C6C1-1", "uniprot_id": [ { "id": "AN34C_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C6C1", "type": "external" } ], "mass": 58256.0, "length": 535, "protein_name": "Ankyrin repeat domain-containing protein 34C", "gene_name": "ANKRD34C", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 34C", "refseq_ac": [ { "id": "NP_001139813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139813", "type": "external" } ], "gene_names_uniprotkb": "ANKRD34C", "gene_names_refseq": "ANKRD34C", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 34C", "protein_names_refseq": "ankyrin repeat domain-containing protein 34C", "tax_id": 9606, "disease": "", "pathway": " (hsa:390616)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "24714562;28657654;29557506;30379171;35051231", "class_list": "", "function": "", "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "H3BNM1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0071546 pi-body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P0C6C1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20594-1", "uniprot_id": [ { "id": "ANPRB_HUMAN", "url": "https://www.uniprot.org/uniprot/P20594", "type": "external" } ], "mass": 117022.0, "length": 1047, "protein_name": "Atrial natriuretic peptide receptor 2", "gene_name": "NPR2", "organism": "Human", "refseq_name": "atrial natriuretic peptide receptor 2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_003986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003986", "type": "external" } ], "gene_names_uniprotkb": "NPR2; ANPRB", "gene_names_refseq": "AMDM; ANPRB; ANPb; ECDM; GC-B; GCB; GUC2B; GUCY2B; NPR2; NPRBi; NPRB; SNSK", "protein_names_uniprotkb": "Atrial natriuretic peptide receptor 2; 4.6.1.2; ANP-B; ANPR-B; Atrial natriuretic peptide receptor type B; GC-B; Guanylate cyclase B; NPR-B", "protein_names_refseq": "atrial natriuretic peptide B-type receptor; atrial natriuretic peptide receptor 2 isoform 1 precursor; atrial natriuretic peptide receptor 2; atrial natriuretic peptide receptor type B; guanylate cyclase 2B; guanylyl cyclase B; natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)", "tax_id": 9606, "disease": "Miura type epiphyseal chondrodysplasia (Disease Ontology:DOID:0070316); bone development disease (Disease Ontology:DOID:0080006); acromesomelic dysplasia, Maroteaux type (Disease Ontology:DOID:0080050); essential hypertension (Disease Ontology:DOID:10825); achondroplasia (Disease Ontology:DOID:4480); short stature with nonspecific skeletal abnormalities 1 (MONDO:MONDO:0014551)", "pathway": " (hsa:4882); (R-HSA-5578768)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10073597;10082481;10880574;11237011;14559895;14759258;15146390;1660465;1672777;17344846;17652215;17660514;19934029;20977274;2144260;22590601;22870295;23586811;23827346;24001744;24057292;24259409;24471569;24715725;25202235;25576301;25645385;2570358;25892735;26817948;26980729;26990595;29393594;29557506;29786170;31154438;31844290;32157095;32161166;32387766;32506827;32938616;32983136;34509645;34565054;35051231;35455946;35580925;35741827;36241641;36322898;37501190;9624142", "class_list": "", "function": "Heterozygous NPR2 Variants in Idiopathic Short Stature. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux., [RefSeq, PubMed]; NPR2 gene variants in familial short stature: a single-center study. Publication Status: Online-Only, [RefSeq, PubMed]; Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature. Publication Status: Online-Only, [RefSeq, PubMed]; Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon binding of its ligand. May play a role in the regulation of skeletal growth., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 9, "predicted_n_glycosites": 7, "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": 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": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B0ZBF2;B0ZBF3;D3DRP3;D3DRP4;O60871;Q4VAK7;Q5TCV2;Q8TA93;Q9UQ50", "ec_number_list": [ { "id": "4.6.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.2", "type": "external" } ], "go_molecular_function": "GO:0004383 guanylate cyclase activity;GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0045202 synapse", "go_biological_process": "GO:0030540 female genitalia development;GO:0035483 gastric emptying;GO:0001964 startle response;GO:0060466 activation of meiosis involved in egg activation;GO:0001570 vasculogenesis", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "P20594-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30038-1", "uniprot_id": [ { "id": "AL4A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30038", "type": "external" } ], "mass": 61719.0, "length": 563, "protein_name": "Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial", "gene_name": "ALDH4A1", "organism": "Human", "refseq_name": "delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform b", "refseq_ac": [ { "id": "NP_001154976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154976", "type": "external" } ], "gene_names_uniprotkb": "ALDH4A1; ALDH4; P5CDH", "gene_names_refseq": "ALDH4A1; ALDH4; P5CDh; P5CD", "protein_names_uniprotkb": "Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; 1.2.1.88; Aldehyde dehydrogenase family 4 member A1; L-glutamate gamma-semialdehyde dehydrogenase; P5C dehydrogenase", "protein_names_refseq": "L-glutamate gamma-semialdehyde dehydrogenase; P5C dehydrogenase; aldehyde dehydrogenase family 4 member A1; delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform b; delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; epididymis secretory sperm binding protein; mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); hyperprolinemia type 2 (Disease Ontology:DOID:0080543)", "pathway": " (hsa:8659); (R-HSA-389661); (R-HSA-70688)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10484776;10524214;10777549;10978532;12865426;1286669;12899834;13681368;13681370;1395511;14170323;15340920;15662599;15802217;1601857;16616139;1703535;17088322;17669354;18083107;18215067;19352492;20018850;20603179;2158891;21998747;22516612;23186163;2363689;24275569;25697095;25747990;25892735;26858947;26992070;28228285;28904123;29557506;30397120;30429286;30524438;31844290;32157095;32350084;32897882;33141586;33268892;33912179;3416563;35251023;35470798;35580925;36241641;38109905;38665916;3944130;500817;6250440;8493898;8621661;9163533;9700195;9820813", "class_list": "", "function": "ALDH4A1 is an atherosclerosis auto-antigen targeted by protective antibodies., [RefSeq, PubMed]; Atherosclerotic Autoantigen ALDH4A1 as a Novel Immunological Indicator for Plaque Erosion in Patients with ST Segment Elevated Myocardial Infarction., [RefSeq, PubMed]; Genetic variation in ALDH4A1 is associated with muscle health over the lifespan and across species. Publication Status: Online-Only, [RefSeq, PubMed]; Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes., [UniProtKB, PubMed]; This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 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, "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": 1, "reported_glycation": 0, "reported_snv": 3, "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": "A8K1Q7;B4DGE4;D2D4A3;Q16882;Q53HU4;Q5JNV6;Q8IZ38;Q96IF0;Q9UDI6", "ec_number_list": [ { "id": "1.2.1.88", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.88", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0042802 identical protein binding;GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0003842 L-glutamate gamma-semialdehyde dehydrogenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0019470 trans-4-hydroxy-L-proline catabolic process;GO:0006560 proline metabolic process;GO:0006562 L-proline catabolic process;GO:0010133 L-proline catabolic process to L-glutamate", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "P30038-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43353-1", "uniprot_id": [ { "id": "AL3B1_HUMAN", "url": "https://www.uniprot.org/uniprot/P43353", "type": "external" } ], "mass": 51840.0, "length": 468, "protein_name": "Aldehyde dehydrogenase family 3 member B1", "gene_name": "ALDH3B1", "organism": "Human", "refseq_name": "aldehyde dehydrogenase family 3 member B1 isoform a", "refseq_ac": [ { "id": "NP_000685", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000685", "type": "external" } ], "gene_names_uniprotkb": "ALDH3B1; ALDH7", "gene_names_refseq": "ALDH3B1; ALDH4; ALDH7", "protein_names_uniprotkb": "Aldehyde dehydrogenase family 3 member B1; 1.2.1.28; 1.2.1.48; 1.2.1.5; 1.2.1.7; Aldehyde dehydrogenase 7; Long-chain fatty aldehyde dehydrogenase; Medium-chain fatty aldehyde dehydrogenase", "protein_names_refseq": "aldehyde dehydrogenase 3B1; aldehyde dehydrogenase 7; aldehyde dehydrogenase family 3 member B1 isoform a; long-chain fatty aldehyde dehydrogenase; medium-chain fatty aldehyde dehydrogenase", "tax_id": 9606, "disease": "Sjogren-Larsson syndrome (Disease Ontology:DOID:14501)", "pathway": " (hsa:221); (R-HSA-6798695); (R-HSA-9845614)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "11018465;11237011;11356846;12411432;12815058;16782891;16940153;17379599;17382292;17713573;18558101;18619555;20068046;20089856;20699116;23650620;23721920;25286108;26853435;26992070;27126290;29229990;29242379;29393594;29557506;29786170;30090628;30575723;30635364;30833945;31154438;31844290;31848261;32157095;32161166;32387766;32488085;32744175;32897882;32938616;32983136;33043033;33592498;33968037;33981976;34171305;34509645;35051231;35580925;35673905;36010968;36215666;36241641;36284347;38334412;39894887;7828891;8692836;9705349", "class_list": "", "function": "ALDH3B1 Is an Independent Prognostic Biomarker of Lung Adenocarcinoma., [RefSeq, PubMed]; Oxidizes medium and long chain saturated and unsaturated fatty aldehydes generated in the plasma membrane into non-toxic fatty acids (PubMed:17382292, PubMed:23721920). May have a protective role against the cytotoxicity induced by lipid peroxidation (PubMed:17382292). Short-chain fatty aldehydes are not good substrates (PubMed:17382292). Can use both NADP(+) and NAD(+) as electron acceptor in vitro, however in vivo preference will depend on their tissue levels (PubMed:17382292). Low activity towards acetaldehyde and 3,4-dihydroxyphenylacetaldehyde (PubMed:17382292, PubMed:23721920). Able to metabolize aromatic aldehydes such as benzaldehyde to their acid form (PubMed:17382292)., [UniProtKB, PubMed, PubMed]; Potential clinical significance of ALDH3B1 in auxiliary diagnosis of gastric cancer., [RefSeq, PubMed]; The likely physiological function of ALDH3B1 is to oxidize lipid-derived aldehydes generated in the plasma membrane and not to be involved in the sphingolipid metabolism in the endoplasmic reticulum., [RefSeq, PubMed]; This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]; [ALDH3B1 expression is correlated with histopathology and long-term prognosis of gastric cancer]., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "A3FMP9;Q53XL5;Q8N515;Q96CK8", "ec_number_list": [ { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "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": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "1.14.19.17", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.17", "type": "external" }, { "id": "5.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.-", "type": "external" }, { "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.2.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.19", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "3.4.21.73", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.73", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "3.4.24.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.4.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.2", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "1.2.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.47", "type": "external" }, { "id": "1.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.46", "type": "external" }, { "id": "1.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.31", "type": "external" }, { "id": "1.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.8", "type": "external" }, { "id": "1.2.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.94", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "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": "2.3.2.27", "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": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" } ], "go_molecular_function": "GO:0004028 3-chloroallyl aldehyde dehydrogenase activity;GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity;GO:0018479 benzaldehyde dehydrogenase (NAD+) activity;GO:0050061 long-chain fatty aldehyde dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030149 sphingolipid catabolic process;GO:0006629 lipid metabolic process;GO:0006979 response to oxidative stress;GO:0006066 alcohol metabolic process;GO:0006068 ethanol catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "P43353-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49418-1", "uniprot_id": [ { "id": "AMPH_HUMAN", "url": "https://www.uniprot.org/uniprot/P49418", "type": "external" } ], "mass": 76257.0, "length": 695, "protein_name": "Amphiphysin", "gene_name": "AMPH", "organism": "Human", "refseq_name": "amphiphysin isoform 1", "refseq_ac": [ { "id": "NP_001626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001626", "type": "external" } ], "gene_names_uniprotkb": "AMPH; AMPH1", "gene_names_refseq": "AMPH1; AMPH", "protein_names_uniprotkb": "Amphiphysin", "protein_names_refseq": "amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen); amphiphysin I; amphiphysin isoform 1", "tax_id": 9606, "disease": "centronuclear myopathy 2 (Disease Ontology:DOID:0111220)", "pathway": " (hsa:273); (R-HSA-8856828)", "pathway_count": 2, "publication_count": 159, "publication_id_list": "10535736;10542231;10559856;10559861;10559924;10625686;10766823;11082044;11113134;11231140;11237011;11239472;11470803;11516654;11517213;11532990;11577110;11877457;11877461;11889126;12057195;12213833;12447393;12847086;12952949;14555962;14581451;14617351;14622578;14622579;15252009;15260957;15262992;15318165;15339664;15345747;15502812;15502813;15649145;15703209;15802264;15895077;15916959;16103228;16215232;16326391;16410077;16516836;16707488;16733250;16798879;16880396;16903783;16945112;17018281;17035995;17158794;17494869;17512409;17540576;17609109;17681954;17762867;17765681;17978091;18093523;18388313;1847920;18510355;18761055;18790740;18981233;19092055;19287005;19296720;19458185;19536138;19575674;19603039;19696796;19713939;19776351;19809571;20033059;20059951;20211604;20231386;20428113;20448150;20826345;20946875;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;22099461;22233676;22484487;22505844;22815487;22863004;23297414;23536704;23651931;23823722;23861397;23891661;24130457;24186068;24366607;24581490;24789820;24966051;25107275;25303366;25341920;25576301;25892735;26042225;26403691;28832583;29393594;29557506;29769354;29786170;30078552;31092671;32157095;32938616;32983136;33592498;34018922;35051231;35580925;36010968;37556888;6146630;7757077;7877694;8076697;8524399;8552632;9092476;9100026;9427626;9428629;9513187;9635431;9736607", "class_list": "", "function": "Amphiphysin I cleavage by asparagine endopeptidase leads to tau hyperphosphorylation and synaptic dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Amphiphysin-IgG autoimmune sciatic neuropathy and facial neuropathy related to primary central nervous system lymphoma: A case report., [RefSeq, PubMed]; May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton., [UniProtKB]; This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "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": 32, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A4D1X8;A4D1X9;O43538;Q75MJ8;Q75MK5;Q75MM3;Q8N4G0", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0030672 synaptic vesicle membrane;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0006897 endocytosis;GO:0007268 chemical synaptic transmission;GO:0048488 synaptic vesicle endocytosis", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "P49418-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51816-1", "uniprot_id": [ { "id": "AFF2_HUMAN", "url": "https://www.uniprot.org/uniprot/P51816", "type": "external" } ], "mass": 144771.0, "length": 1311, "protein_name": "AF4/FMR2 family member 2", "gene_name": "AFF2", "organism": "Human", "refseq_name": "AF4/FMR2 family member 2 isoform 2", "refseq_ac": [ { "id": "NP_001162593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162593", "type": "external" } ], "gene_names_uniprotkb": "AFF2; FMR2; OX19", "gene_names_refseq": "AFF2; FMR2P; FMR2; FRAXE; MRX2; OX19; XLID109", "protein_names_uniprotkb": "AF4/FMR2 family member 2; FMR2P; Protein FMR-2; Protein Ox19", "protein_names_refseq": "AF4/FMR2 family member 2 isoform 2; AF4/FMR2 family member 2; protein FMR-2", "tax_id": 9606, "disease": "X-linked intellectual developmental disorder 109 (Disease Ontology:DOID:0080984); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2334)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "12777533;19136466;19690332;21739600;24715725;26992070;27600516;28832583;28855257;29393594;29557506;30379171;30429286;31848261;32157095;32357974;32387766;32502341;32897882;32938616;34282157;35051231;35494241;35701667;36010968;36581221;37313815;37381158;8673085;8673086;8824884;9299237;9467002", "class_list": "", "function": "ALKBH5/YTHDF2-mediated m6A modification of circAFF2 enhances radiosensitivity of colorectal cancer by inhibiting Cullin neddylation., [RefSeq, PubMed]; Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear expression of AFF2 C-terminus is a sensitive and specific ancillary marker for DEK::AFF2 carcinoma of the sinonasal tract., [RefSeq, PubMed]; RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure., [UniProtKB, PubMed]; This gene encodes a putative transcriptional activator that is a member of the AF4\\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]., [RefSeq]; [AF4/FMR2 and IL-10 gene single nucleotide polymorphisms are correlated with disease susceptibility and immune infiltration in ankylosing spondylitis]., [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 71, "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": "A2RTY4;B4DXD5;B7WNQ1;B7ZLD6;B7ZLD9;O43786;O60215;P78407;Q13521;Q14323;Q7Z2F7;Q7Z400;Q9UNA5", "ec_number_list": [], "go_molecular_function": "GO:0002151 G-quadruplex RNA binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0006355 regulation of DNA-templated transcription;GO:0050877 nervous system process;GO:0007420 brain development;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P51816-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02952-1", "uniprot_id": [ { "id": "AKA12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02952", "type": "external" } ], "mass": 191482.0, "length": 1782, "protein_name": "A-kinase anchor protein 12", "gene_name": "AKAP12", "organism": "Human", "refseq_name": "A-kinase anchor protein 12 isoform 1", "refseq_ac": [ { "id": "NP_005091", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005091", "type": "external" } ], "gene_names_uniprotkb": "AKAP12; AKAP250", "gene_names_refseq": "AKAP12; AKAP250; SSeCKS", "protein_names_uniprotkb": "A-kinase anchor protein 12; A-kinase anchor protein 250 kDa; AKAP 250; AKAP-12; Gravin; Myasthenia gravis autoantigen", "protein_names_refseq": "A kinase (PRKA) anchor protein 12; A-kinase anchor protein 12 isoform 1; A-kinase anchor protein, 250kDa; Src-Suppressed C Kinase Substrate; kinase scaffold protein gravin; myasthenia gravis autoantigen gravin", "tax_id": 9606, "disease": "juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); colorectal carcinoma (Disease Ontology:DOID:0080199); sciatic neuropathy (Disease Ontology:DOID:11446); brain ischemia (Disease Ontology:DOID:2316); osteosarcoma (Disease Ontology:DOID:3347); liver cirrhosis (Disease Ontology:DOID:5082); chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:9590); (R-HSA-9013405); (R-HSA-9035034)", "pathway_count": 3, "publication_count": 111, "publication_id_list": "11784792;12577064;14657015;1522245;15496411;16777452;16959974;17064668;17081983;17287340;17322306;17525332;17765681;17916560;18077418;18212344;18452278;18510355;18578522;18707149;18767875;19369195;19413330;19415658;19651622;19664994;19664995;20166139;20213681;20233848;21119010;21406692;22028470;22665057;23063527;23087206;23096567;23186163;23301498;23481700;24102721;24275569;25114211;25255805;25576301;25668492;25746724;25807930;26853435;26992070;27278019;27481945;27600516;27683220;27846572;27852748;27862975;27869121;28486133;28832583;28834231;28947137;29242379;29393594;29508533;29557506;29776664;29786170;29789417;30192525;30429286;30484775;30524438;30779550;30833945;31154438;31222486;31373491;31844290;31848261;31871319;32157095;32161166;32488085;32502341;32897882;32938616;32983136;33592498;33912179;33968037;33981976;34171305;35051231;35494241;35580925;36010968;36110213;36241641;36284347;36513585;37326825;37605556;37879503;37938771;38253038;38506047;38665916;8945468;9000000;9604001", "class_list": "", "function": "AKAP12 Upregulation Associates With PDE8A to Accelerate Cardiac Dysfunction., [RefSeq, PubMed]; AKAP12 and IGFBP4 Are Prognostic Factors for Chronic Lymphocytic Leukemia., [RefSeq, PubMed]; AKAP12 inhibits esophageal squamous carcinoma cell proliferation, migration, and cell cycle via the PI3K/AKT signaling pathway., [RefSeq, PubMed]; AKAP12 promotes cancer stem cell-like phenotypes and activates STAT3 in colorectal cancer., [RefSeq, PubMed]; Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC)., [UniProtKB]; Circ_0001777 Affects Triple-negative Breast Cancer Progression Through the miR-95-3p/AKAP12 Axis., [RefSeq, PubMed]; The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 71, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O00310;O00498;Q4LE68;Q5SZ80;Q5TGN1;Q68D82;Q99970", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0008179 adenylate cyclase binding;GO:0051018 protein kinase A binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0035733 hepatic stellate cell activation;GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0032496 response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q02952-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07075-1", "uniprot_id": [ { "id": "AMPE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07075", "type": "external" } ], "mass": 109244.0, "length": 957, "protein_name": "Glutamyl aminopeptidase", "gene_name": "ENPEP", "organism": "Human", "refseq_name": "glutamyl aminopeptidase isoform 1", "refseq_ac": [ { "id": "NP_001968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001968", "type": "external" } ], "gene_names_uniprotkb": "ENPEP", "gene_names_refseq": "APA; CD249; ENPEP; gp160", "protein_names_uniprotkb": "Glutamyl aminopeptidase; 3.4.11.7; AP-A; Aminopeptidase A; Differentiation antigen gp160; EAP", "protein_names_refseq": "AP-A; EAP; aminopeptidase A; differentiation antigen gp160; glutamyl aminopeptidase isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2028); (R-HSA-2022377)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10.1101/2023.09.13.557529;10536878;10581079;10692253;10899625;10924499;10969042;11502696;11815627;12045255;12540854;12927775;14747736;15283675;16335952;1668266;16790432;16959974;17138938;17704566;1848554;1851160;19159218;19800993;20380117;20889553;22193701;2266130;23090970;23446738;23888046;24141856;24190977;2443571;2558510;26311161;2708524;27622074;27862975;28177885;2846041;29391424;29557506;3017438;30459171;31154438;31844290;32938616;32983136;33421813;33592498;33881611;34087483;35051231;35580925;36284347;37074911;383475;38886218;4289389;4322712;4330891;4360430;6269175;6270633;6303766;6807977;7980644;8093218;8244382;8346219;9169443;9570564", "class_list": "", "function": "Aminopeptidase A (ENPEP) gene polymorphisms and preeclampsia: Descriptive analysis., [RefSeq, PubMed]; Aminopeptidase A contributes to biochemical, anatomical and cognitive defects in Alzheimer's disease (AD) mouse model and is increased at early stage in sporadic AD brain., [RefSeq, PubMed]; Regulates central hypertension through its calcium-modulated preference to cleave N-terminal acidic residues from peptides such as angiotensin II., [UniProtKB, PubMed]; The ENPEP gene encodes glutamyl aminopeptidase, a type II integral membrane protein with an extracellular zinc-binding domain. This protein can upregulate blood pressure by cleaving the N-terminal aspartate from angiotensin II, and can regulate blood vessel formation and enhance tumorigenesis in some tissues. Along with ANPEP and DPP4, ENPEP was found to be a candidate co-receptor for the coronavirus SARS-CoV-2, which causes COVID-19. [provided by RefSeq, Apr 2020]., [RefSeq]; The substrate Angiotensin II, the enzymes aminopeptidases-A, B, M as well as IRAP were detected in the jejunal mucosa., [RefSeq, PubMed]; Uncovering the role of TET2-mediated ENPEP activation in trophoblast cell fate determination. Publication Status: Online-Only, [RefSeq, PubMed]; We suggest that APA enzymatic activity affects tumor initiation and cancer malignancy in a TWIST-dependent manner, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 14, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 16, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 17, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 84, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 145, "disease_count": 0, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "Q504U2", "ec_number_list": [ { "id": "3.4.11.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.7", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004177 aminopeptidase activity;GO:0070006 metalloaminopeptidase activity;GO:0004230 glutamyl aminopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005903 brush border;GO:0045177 apical part of cell;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001525 angiogenesis;GO:0007267 cell-cell signaling;GO:0008283 cell population proliferation;GO:0016477 cell migration;GO:0002003 angiotensin maturation", "synthesized_glycan_count": 0, "hit_score": 23.9, "record_id": "Q07075-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14550-1", "uniprot_id": [ { "id": "AK1A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P14550", "type": "external" } ], "mass": 36573.0, "length": 325, "protein_name": "Aldo-keto reductase family 1 member A1", "gene_name": "AKR1A1", "organism": "Human", "refseq_name": "aldo-keto reductase family 1 member A1", "refseq_ac": [ { "id": "NP_001189342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189342", "type": "external" } ], "gene_names_uniprotkb": "AKR1A1; ALDR1; ALR", "gene_names_refseq": "AKR1A1; ALDR1; ALR; ARM; DD3; HEL-S-6", "protein_names_uniprotkb": "Aldo-keto reductase family 1 member A1; 1.1.1.19; 1.1.1.20; 1.1.1.2; 1.1.1.372; 1.1.1.54; 1.6.-.-; Alcohol dehydrogenase [NADP(+)]; Aldehyde reductase; Glucuronate reductase; Glucuronolactone reductase; S-nitroso-CoA reductase; ScorR", "protein_names_refseq": "HEL-S-165mP; S-nitroso-CoA reductase; alcohol dehydrogenase; aldehyde reductase; aldo-keto reductase family 1 member A1; dihydrodiol dehydrogenase 3; epididymis secretory protein Li 6; epididymis secretory sperm binding protein Li 165mP; glucuronate reductase; glucuronolactone reductase; scorR", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); lung adenocarcinoma (Disease Ontology:DOID:3910)", "pathway": " (hsa:10327); (R-HSA-156590); (R-HSA-5661270)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10329152;10393438;10486210;10510318;10587441;10783391;11237011;11306097;11327815;11882650;11904223;12042665;12211029;12627223;12962626;14742434;15103634;15299353;15809331;16081649;16298388;16548513;18276838;20068231;20083122;20085333;20112406;21106529;21668448;22042873;22522127;23162467;23179721;23186163;23301498;24275569;24366607;24714562;24715725;2498333;25576301;26154972;2691249;26929215;26992070;27397612;27846572;27862975;28218747;28467828;28904123;29437277;29557506;29763686;30315122;30429286;30538128;30573663;30779550;31649033;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33158254;33214551;33298915;33592498;3365415;33717175;3372534;33936100;33968037;34019948;34087483;34171305;34229054;34509645;34932366;35051231;35561310;35580925;36010968;3615425;36241641;36284347;36581221;3770744;37938771;38092142;38665916;40914422;4392213;4768551;7669785;8182750;8203914;8331657;8431482;8487505;8703034;8722620;8812420;9278457;9551553;9839448", "class_list": "", "function": "(5-Hydroxy-4-oxo-2-styryl-4H-pyridin-1-yl)-acetic Acid Derivatives as Multifunctional Aldose Reductase Inhibitors. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols (PubMed:10510318, PubMed:30538128). Displays enzymatic activity towards endogenous metabolites such as aromatic and aliphatic aldehydes, ketones, monosaccharides and bile acids, with a preference for negatively charged substrates, such as glucuronate and succinic semialdehyde (PubMed:10510318, PubMed:30538128). Functions as a detoxifiying enzyme by reducing a range of toxic aldehydes (By similarity). Reduces methylglyoxal and 3-deoxyglucosone, which are present at elevated levels under hyperglycemic conditions and are cytotoxic (By similarity). Involved also in the detoxification of lipid-derived aldehydes like acrolein (By similarity). Plays a role in the activation of procarcinogens, such as polycyclic aromatic hydrocarbon trans-dihydrodiols, and in the metabolism of various xenobiotics and drugs, including the anthracyclines doxorubicin (DOX) and daunorubicin (DAUN) (PubMed:11306097, PubMed:18276838). Also acts as an inhibitor of protein S-nitrosylation by mediating degradation of S-nitroso-coenzyme A (S-nitroso-CoA), a cofactor required to S-nitrosylate proteins (PubMed:30538128). S-nitroso-CoA reductase activity is involved in reprogramming intermediary metabolism in renal proximal tubules, notably by inhibiting protein S-nitrosylation of isoform 2 of PKM (PKM2) (By similarity). Also acts as a S-nitroso-glutathione reductase by catalyzing the NADPH-dependent reduction of S-nitrosoglutathione (PubMed:31649033). Displays no reductase activity towards retinoids (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Data (including data from studies in knockout and transgenic mice) suggest that AKR1A1 in liver is involved in bioactivation of xenobiotic/carcinogen thioacetamide (TAA); Akr1a-/- knockout mice are resistant to TAA-induced liver injury/hepatotoxicity., [RefSeq, PubMed]; Mechanistic study of the Aldo-keto reductase family 1 member A1 in regulating mesenchymal stem cell fate decision toward adipogenesis and osteogenesis., [RefSeq, PubMed]; This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]., [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": 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": 6, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 3, "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": "A8KAL8;D3DQ04;Q6IAZ4", "ec_number_list": [ { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.54", "type": "external" }, { "id": "1.1.1.216", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.216", "type": "external" }, { "id": "1.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.2", "type": "external" }, { "id": "1.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.-.-", "type": "external" }, { "id": "1.1.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.19", "type": "external" }, { "id": "1.1.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.20", "type": "external" }, { "id": "1.1.1.372", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.372", "type": "external" }, { "id": "1.1.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.21", "type": "external" }, { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.1.1.189", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.189", "type": "external" }, { "id": "1.1.1.197", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.197", "type": "external" }, { "id": "1.1.1.196", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.196", "type": "external" }, { "id": "1.1.1.71", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.71", "type": "external" } ], "go_molecular_function": "GO:0004032 aldose reductase (NADPH) activity;GO:0008106 alcohol dehydrogenase (NADP+) activity;GO:0047939 L-glucuronate reductase activity;GO:0047956 glycerol dehydrogenase (NADP+) activity;GO:1990002 methylglyoxal reductase (NADPH) (acetol producing) activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0045202 synapse;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0043066 negative regulation of apoptotic process;GO:0044597 daunorubicin metabolic process;GO:0044598 doxorubicin metabolic process;GO:0046185 aldehyde catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "P14550-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0P5N6-1", "uniprot_id": [ { "id": "ARL16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0P5N6", "type": "external" } ], "mass": 18551.0, "length": 173, "protein_name": "ADP-ribosylation factor-like protein 16", "gene_name": "ARL16", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 16 isoform 2", "refseq_ac": [ { "id": "NP_001316537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316537", "type": "external" } ], "gene_names_uniprotkb": "ARL16", "gene_names_refseq": "ARL16", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 16", "protein_names_refseq": "ADP ribosylation factor like GTPase 16; ADP-ribosylation factor-like protein 16 isoform 2; ADP-ribosylation factor-like protein 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:339231)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;21233210;35196065", "class_list": "", "function": "ARF-like protein 16 (ARL16) inhibits RIG-I by binding with its C-terminal domain in a GTP-dependent manner, [RefSeq, PubMed]; Required for the trafficking of ciliary proteins IFT140 and INPP5E from the Golgi to the cilia, thus playing a role in ciliogenesis (By similarity). Suppresses the RNA sensing activity of RIGI in a GTP-dependent manner (PubMed:21233210)., [UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). This protein has been shown to have an inhibitory role in the cellular antiviral response. This gene product interacts with the C-terminal domain of the DEXD/H-box helicase 58 (DDX58) gene product. This interaction was found to suppress the association between the DDX58 gene product and RNA, thereby negatively regulating the activity of the DDX58 gene product. [provided by RefSeq, Jul 2016]., [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": 1, "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": "B4E3H0", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0001917 photoreceptor inner segment;GO:0005930 axoneme", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q0P5N6-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P45973-1", "uniprot_id": [ { "id": "CBX5_HUMAN", "url": "https://www.uniprot.org/uniprot/P45973", "type": "external" } ], "mass": 22225.0, "length": 191, "protein_name": "Chromobox protein homolog 5", "gene_name": "CBX5", "organism": "Human", "refseq_name": "chromobox protein homolog 5", "refseq_ac": [ { "id": "NP_001120793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120793", "type": "external" } ], "gene_names_uniprotkb": "CBX5; HP1A", "gene_names_refseq": "CBX5; HEL25; HP1A; HP1alpha; HP1", "protein_names_uniprotkb": "Chromobox protein homolog 5; Antigen p25; HP1 alpha; Heterochromatin protein 1 homolog alpha", "protein_names_refseq": "HP1-ALPHA; HP1Hs alpha; antigen p25; chromobox homolog 5 (HP1 alpha homolog, Drosophila); chromobox protein homolog 5; epididymis luminal protein 25; heterochromatin protein 1 homolog alpha; heterochromatin protein 1-alpha", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); lung adenocarcinoma (Disease Ontology:DOID:3910)", "pathway": " (hsa:23468); (R-HSA-4551638); (R-HSA-8953750); (R-HSA-983231); (R-HSA-9843940)", "pathway_count": 5, "publication_count": 182, "publication_id_list": "10330177;10460410;11042108;11062261;11171983;11237011;11242053;11313457;11744692;11751636;11895428;11950885;11959841;11960997;12004135;12032081;12032298;12134158;12427746;12869583;12909625;14536086;14578449;14701874;15014447;15020713;15199155;15247287;15502821;15536069;15592428;15710388;15864296;15882967;15899859;16054028;16127177;1630448;16567619;16954381;17001316;17018294;17027967;17081983;17196961;17287340;17600109;17924679;18082607;18212344;18408014;18452278;18562691;18628979;18669648;18691969;18691976;19007248;19293402;19617346;19651622;19666599;19690332;19691289;19710015;19783980;19880879;20042602;20068231;20098713;20231385;2028256;20351170;20417598;20498703;20530532;20562864;20627800;20819937;20850016;21047797;21199919;21245376;21346195;21406692;21596310;218813;22402492;22493095;22645359;23186163;23301498;23481700;23542155;23750026;23954429;24068740;24275569;24369422;24627085;24714562;24782567;25218447;25274305;25391492;25576301;25704882;25755297;25772364;25906157;26024233;26154972;26375851;26728094;26813693;26845023;26992070;27068747;27862975;27920218;28218747;28273063;28832583;28834231;28977666;29242379;29437277;29493099;29508533;29557506;29632711;30315122;30410026;30429286;31289231;31427381;31844290;32051553;32157095;32522876;32897882;33043033;33123756;33214551;33592498;33633747;33936100;33968037;34019948;3409321;34171305;35051231;35318648;35561310;35580925;35705054;36010968;36284347;38665916;38781028;38812060;38895997;39193905;40440427;7623816;8505380;8662638;8663349;8769649;8816476;9016654;9029102;9065479;9169472;9230307;9326583;9331217;9422515;9501179;9689056;9704927;9927674", "class_list": "", "function": "Bipartite binding interface recruiting HP1 to chromosomal passenger complex at inner centromeres., [RefSeq, PubMed]; Component of heterochromatin that recognizes and binds histone H3 tails methylated at 'Lys-9' (H3K9me), leading to epigenetic repression (PubMed:40440427). In contrast, it is excluded from chromatin when 'Tyr-41' of histone H3 is phosphorylated (H3Y41ph) (PubMed:19783980). Also recognizes and binds histone H1.4 methylated at 'Lys-26' (H1.4K26me) (PubMed:16127177). Excluded from chromatin when histone H1.4 is Simultaneously methylated at Lys-26 (H1.4K26me) and phosphorylated at Ser-27 (H1.4S27Ph) (PubMed:16127177). May contribute to the association of heterochromatin with the inner nuclear membrane by interactions with the lamin-B receptor (LBR) (PubMed:19783980). Involved in the formation of kinetochore through interaction with the MIS12 complex subunit NSL1 (PubMed:19783980, PubMed:20231385). Required for the formation of the inner centromere (PubMed:20231385)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Conformational diversity of human HP1alpha., [RefSeq, PubMed]; Heterochromatin protein 1 alpha (HP1alpha) undergoes a monomer to dimer transition that opens and compacts live cell genome architecture., [RefSeq, PubMed]; This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Unveiling the role of HP1alpha-HDAC1-STAT1 axis as a therapeutic target for HP1alpha-positive intrahepatic cholangiocarcinoma. Erratum:[J Exp Clin Cancer Res. 2024 Jul 5;43(1):186. doi: 10.1186/s13046-024-03112-w. PMID: 38965576] 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, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R8T9", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0043021 ribonucleoprotein complex binding;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0006974 DNA damage response;GO:0030261 chromosome condensation;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "P45973-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95391-1", "uniprot_id": [ { "id": "SLU7_HUMAN", "url": "https://www.uniprot.org/uniprot/O95391", "type": "external" } ], "mass": 68387.0, "length": 586, "protein_name": "Pre-mRNA-splicing factor SLU7", "gene_name": "SLU7", "organism": "Human", "refseq_name": "pre-mRNA-splicing factor SLU7 isoform b", "refseq_ac": [ { "id": "NP_006416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006416", "type": "external" } ], "gene_names_uniprotkb": "SLU7", "gene_names_refseq": "9G8; SLU7; hSlu7", "protein_names_uniprotkb": "Pre-mRNA-splicing factor SLU7; hSlu7", "protein_names_refseq": "SLU7 homolog, splicing factor; SLU7 splicing factor homolog; pre-mRNA-splicing factor SLU7 isoform b; pre-mRNA-splicing factor SLU7; step II splicing factor SLU7; zinc knuckle motif containing", "tax_id": 9606, "disease": "", "pathway": " (hsa:10569); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187)", "pathway_count": 4, "publication_count": 192, "publication_id_list": "10197984;10228171;10323864;10489353;10647016;10668806;10882114;11014198;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11579093;11739738;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12477934;12764196;12871933;14625303;14713954;15181151;15728250;15998806;16314397;16314458;16809785;16964243;17000901;17081983;17095540;17190602;17332742;17606899;17924679;17984224;18322460;18364396;18411249;18423201;18452278;18593880;18691976;18957205;19007248;19103666;19165350;19413330;19536130;19651622;19664995;19836239;20068231;20129943;20166139;20423332;20573985;20844015;20980672;21122810;21406692;21536652;2176635;21947206;22110043;22207203;22365833;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23345524;23481700;23826332;24196718;24244187;24275569;24304693;24448447;24714562;24715725;24737827;24914973;25418920;25555158;2558966;25662211;25836925;25892735;26154972;26375851;26385511;26420826;26728094;26969736;26992070;27377154;27459055;27683217;27862975;28062851;28076346;28228285;28502770;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632711;2963332;29786170;29789417;30315277;30379171;30429286;30484775;30524438;30705154;30728453;30765414;30975767;31217245;31409651;31844290;32157095;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33243851;33298915;33392160;33446560;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34170569;34301950;34331453;34509645;34822310;35051231;35318648;35385551;35580925;36215666;36362191;3757028;40596516;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9618489;9660949;9671485;9701291;9731529", "class_list": "", "function": "Involved in pre-mRNA splicing., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. [provided by RefSeq, Jul 2008]., [RefSeq]; Required for pre-mRNA splicing as component of the spliceosome (PubMed:10197984, PubMed:28502770, PubMed:30705154). Participates in the second catalytic step of pre-mRNA splicing, when the free hydroxyl group of exon I attacks the 3'-splice site to generate spliced mRNA and the excised lariat intron. Required for holding exon 1 properly in the spliceosome and for correct AG identification when more than one possible AG exists in 3'-splicing site region. May be involved in the activation of proximal AG. Probably also involved in alternative splicing regulation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SLU7: A New Hub of Gene Expression Regulation-From Epigenetics to Protein Stability in Health and Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Splicing Factor SLU7 Prevents Oxidative Stress-Mediated Hepatocyte Nuclear Factor 4alpha Degradation, Preserving Hepatic Differentiation and Protecting From Liver Damage., [RefSeq, PubMed]; The splicing regulator SLU7 is required to preserve DNMT1 protein stability and DNA methylation., [RefSeq, PubMed]; The zinc-knuckle motif of hSlu7 determines the cellular localization of the protein through a nucleocytoplasmic-sensitive shuttling balance., [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": 5, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 13, "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": "D3DQK2;Q3LUJ0;Q3LUJ1;Q6RXQ5;Q96FM9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030628 pre-mRNA 3'-splice site binding;GO:0000386 second spliceosomal transesterification activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0016607 nuclear speck", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0006886 intracellular protein transport;GO:0034605 cellular response to heat;GO:0000398 mRNA splicing, via spliceosome;GO:0000380 alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "O95391-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02786-1", "uniprot_id": [ { "id": "TFR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P02786", "type": "external" } ], "mass": 84871.0, "length": 760, "protein_name": "Transferrin receptor protein 1", "gene_name": "TFRC", "organism": "Human", "refseq_name": "transferrin receptor protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001121620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121620", "type": "external" } ], "gene_names_uniprotkb": "TFRC", "gene_names_refseq": "CD71; IMD46; T9; TFR1; TFRC; TFR; TRFR; TR; p90", "protein_names_uniprotkb": "Transferrin receptor protein 1; T9; TR; TfR1; TfR; Transferrin receptor 1; Trfr; p90", "protein_names_refseq": "transferrin receptor 1; transferrin receptor protein 1 isoform 1; transferrin receptor protein 1", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); immunodeficiency 46 (Disease Ontology:DOID:0111948); prostate cancer (Disease Ontology:DOID:10283); iron deficiency anemia (Disease Ontology:DOID:11758); breast cancer (Disease Ontology:DOID:1612); duodenal ulcer (Disease Ontology:DOID:1724); ovarian cancer (Disease Ontology:DOID:2394); transitional cell carcinoma (Disease Ontology:DOID:2671); breast carcinoma (Disease Ontology:DOID:3459); cervical adenocarcinoma (Disease Ontology:DOID:3702); nutrition disease (Disease Ontology:DOID:374); Weissenbacher-Zweymuller syndrome (Disease Ontology:DOID:4258); renal cell carcinoma (Disease Ontology:DOID:4450); hepatocellular carcinoma (Disease Ontology:DOID:684); muscular atrophy (Disease Ontology:DOID:767); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:7037); (R-HSA-432722); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013407); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423); (R-HSA-917977); (R-HSA-9696270); (R-HSA-9696273); (R-HSA-9725554)", "pathway_count": 19, "publication_count": 849, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Acts as a host entry factor for SARS-CoV, MERS-CoV and SARS-CoV-2 viruses that hijack the endocytosis of TFRC to enter cells., [UniProtKB, PubMed]; (Microbial infection) Acts as a host entry factor for rabies virus that hijacks the endocytosis of TFRC to enter cells., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as a receptor for Plasmodium vivax., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus., [UniProtKB, PubMed, PubMed]; Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes (PubMed:26214738, PubMed:41772062). Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the hereditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site. Positively regulates T and B cell proliferation through iron uptake (PubMed:26642240). Acts as a lipid sensor that regulates mitochondrial fusion by regulating activation of the JNK pathway (PubMed:26214738). When dietary levels of stearate (C18:0) are low, promotes activation of the JNK pathway, resulting in HUWE1-mediated ubiquitination and subsequent degradation of the mitofusin MFN2 and inhibition of mitochondrial fusion (PubMed:26214738). When dietary levels of stearate (C18:0) are high, TFRC stearoylation inhibits activation of the JNK pathway and thus degradation of the mitofusin MFN2 (PubMed:26214738). Mediates uptake of NICOL1 into fibroblasts where it may regulate extracellular matrix production (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Expression of transferrin receptor/TFRC protein in bladder cancer cell T24 and its role in inducing iron death in bladder cancer., [RefSeq, PubMed]; Ferroptosis-related gene transferrin receptor protein 1 expression correlates with the prognosis and tumor immune microenvironment in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Iron capture through CD71 drives perinatal and tumor-associated Treg expansion. Publication Status: Online-Only, [RefSeq, PubMed]; NAT10-mediated ac[4]C acetylation of TFRC promotes sepsis-induced pulmonary injury through regulating ferroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM33 enhances the ubiquitination of TFRC to enhance the susceptibility of liver cancer cells to ferroptosis., [RefSeq, PubMed]; This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 5, "mined_n_glycosites": 3, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 11, "reported_phosphosites": 9, "reported_mutagensis": 36, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 105, "disease_count": 16, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "D3DXB0;Q1HE24;Q59G55;Q9UCN0;Q9UCU5;Q9UDF9;Q9UK21", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005768 endosome;GO:0005769 early endosome", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0007166 cell surface receptor signaling pathway;GO:0007584 response to nutrient;GO:0010628 positive regulation of gene expression;GO:0031623 receptor internalization", "synthesized_glycan_count": 0, "hit_score": 97.6, "record_id": "P02786-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100110000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06124-2", "uniprot_id": [ { "id": "PTN11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06124", "type": "external" } ], "mass": 68011.0, "length": 593, "protein_name": "Tyrosine-protein phosphatase non-receptor type 11", "gene_name": "PTPN11", "organism": "Human", "refseq_name": "tyrosine-protein phosphatase non-receptor type 11 isoform 3", "refseq_ac": [ { "id": "NP_001317366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317366", "type": "external" } ], "gene_names_uniprotkb": "PTPN11; PTP2C; SHPTP2", "gene_names_refseq": "BPTP3; CFC; JMML; METCDS; NS1; PTP-1D; PTP2C; PTPN11; SH-PTP2; SH-PTP3; SHP2", "protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 11; 3.1.3.48; PTP-1D; PTP-2C; Protein-tyrosine phosphatase 1D; Protein-tyrosine phosphatase 2C; SH-PTP2; SH-PTP3; SHP-2; Shp2", "protein_names_refseq": "SH2 domain-containing protein tyrosine phosphatase 2; protein-tyrosine phosphatase 1D; protein-tyrosine phosphatase 2C; tyrosine-protein phosphatase non-receptor type 11 isoform 3", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); hepatocellular adenoma (Disease Ontology:DOID:0050868); idiopathic scoliosis (Disease Ontology:DOID:0060250); Noonan syndrome 1 (Disease Ontology:DOID:0060578); Noonan syndrome with multiple lentigines 1 (Disease Ontology:DOID:0080548); metachondromatosis (Disease Ontology:DOID:0111512); stomach cancer (Disease Ontology:DOID:10534); anogenital venereal wart (Disease Ontology:DOID:11168); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); leukemia (Disease Ontology:DOID:1240); dilated cardiomyopathy (Disease Ontology:DOID:12930); Noonan syndrome with multiple lentigines (Disease Ontology:DOID:14291); glaucoma (Disease Ontology:DOID:1686); chondroma (Disease Ontology:DOID:2602); Noonan syndrome (Disease Ontology:DOID:3490); cervical cancer (Disease Ontology:DOID:4362); tetralogy of Fallot (Disease Ontology:DOID:6419); atrophic gastritis (Disease Ontology:DOID:8929)", "pathway": " (hsa:5781); (R-HSA-1059683); (R-HSA-109704); (R-HSA-110056); (R-HSA-112411); (R-HSA-114604); (R-HSA-1170546); (R-HSA-1257604); (R-HSA-1295596); (R-HSA-1433557); (R-HSA-180292); (R-HSA-186763); (R-HSA-210990); (R-HSA-210993); (R-HSA-2219530); (R-HSA-2586552); (R-HSA-389513); (R-HSA-389948); (R-HSA-391160); (R-HSA-418886); (R-HSA-432142); (R-HSA-512988); (R-HSA-5654689); (R-HSA-5654693); (R-HSA-5654695); (R-HSA-5654700); (R-HSA-5654706); (R-HSA-5654710); (R-HSA-5654712); (R-HSA-5654720); (R-HSA-5654726); (R-HSA-5654727); (R-HSA-5654732); (R-HSA-5654733); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-877312); (R-HSA-8853659); (R-HSA-8854691); (R-HSA-8865999); (R-HSA-8934593); (R-HSA-9008059); (R-HSA-9028731); (R-HSA-909733); (R-HSA-912694); (R-HSA-936964); (R-HSA-9607240); (R-HSA-9645135); (R-HSA-9674555); (R-HSA-9680350); (R-HSA-9702518); (R-HSA-9703648); (R-HSA-9705671); (R-HSA-9927353)", "pathway_count": 54, "publication_count": 913, "publication_id_list": 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"class_list": "", "function": "Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus (PubMed:10655584, PubMed:14739280, PubMed:18559669, PubMed:18829466, PubMed:26742426, PubMed:28074573, PubMed:32184441). Positively regulates MAPK signal transduction pathway (PubMed:28074573). Dephosphorylates GAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2 at 'Tyr-722' resulting in stimulation of its RhoA binding activity (PubMed:18559669). Dephosphorylates CDC73 (PubMed:26742426). Dephosphorylates SOX9 on tyrosine residues, leading to inactivate SOX9 and promote ossification (By similarity). Dephosphorylates tyrosine-phosphorylated NEDD9/CAS-L (PubMed:19275884). Acts as an effector of PDCD1-mediated inhibition of T-cell response: recruited by phosphorylated PDCD1, mediating dephosphorylation of key T-cell receptor (TCR) proximal signaling molecules, leading to TCR signaling inhibition (PubMed:32184441)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MEST promotes immune escape in gastric cancer by downregulating MHCI expression via SHP2., [RefSeq, PubMed]; SHP2 as a primordial epigenetic enzyme expunges histone H3 pTyr-54 to amend androgen receptor homeostasis. 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 two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]., [RefSeq]; [Characteristic Analysis of Adult Acute Myeloid Leukemia Patients with PTPN11 Gene Mutation]., [RefSeq, 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, "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": 18, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 19, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K1D9;Q96HD7", "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": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "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": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" } ], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0001784 phosphotyrosine residue binding;GO:0005158 insulin receptor binding;GO:0019901 protein kinase binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0036302 atrioventricular canal development;GO:0048806 genitalia development;GO:0035335 peptidyl-tyrosine dephosphorylation;GO:0038127 ERBB signaling pathway;GO:0007507 heart development", "synthesized_glycan_count": 0, "hit_score": 91.6, "record_id": "Q06124-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35711-1", "uniprot_id": [ { "id": "SOX5_HUMAN", "url": "https://www.uniprot.org/uniprot/P35711", "type": "external" } ], "mass": 84026.0, "length": 763, "protein_name": "Transcription factor SOX-5", "gene_name": "SOX5", "organism": "Human", "refseq_name": "transcription factor SOX-5 isoform d", "refseq_ac": [ { "id": "NP_001248343", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248343", "type": "external" } ], "gene_names_uniprotkb": "SOX5", "gene_names_refseq": "L-SOX5B; L-SOX5F; L-SOX5; LAMSHF; SOX5", "protein_names_uniprotkb": "Transcription factor SOX-5", "protein_names_refseq": "SRY (sex determining region Y)-box 5; SRY-box 5; transcription factor SOX-5 isoform d; transcription factor SOX-5", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); heart disease (Disease Ontology:DOID:114); Lamb-Shaffer syndrome (MONDO:MONDO:0014778)", "pathway": " (hsa:6660)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;12406576;1614875;18669648;21220648;22290657;23186163;23220431;23498568;24275569;24945754;25645385;26111154;29242379;29393594;29485866;30379171;31154438;31217245;31222486;31844290;32157095;32350084;33968037;34171305;35051231;35251023;35880568;35975639;37702321;37862152;38665916;8812465", "class_list": "", "function": "Circ-LDLRAD3 Knockdown Reduces Cisplatin Chemoresistance and Inhibits the Development of Gastric Cancer with Cisplatin Resistance through miR-588 Enrichment-Mediated SOX5 Inhibition., [RefSeq, PubMed]; EGR1/LINC00839/SOX5 axis modulates migration, invasion and Gemcitabine resistance of bladder cancer cells., [RefSeq, PubMed]; Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency. Review article, [RefSeq, PubMed]; SOX5 promotes cell growth and migration through modulating the DNMT1/p21 pathway in bladder cancer., [RefSeq, PubMed]; These findings describe for the first time a functional role of SOX5 during late B cell development reducing the proliferative capacity and thus potentially affecting the differentiation of B cells. GeneRIF: Identified two new splice variants of SOX5 in human B cells, encoding the known L-SOX5B isoform and a new shorter isoform L-SOX5F. SOX5 limits the proliferative capacity of human primary B lymphocytes and potentially affects the differentiation of human B cells during the germinal center responses. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor involved in chondrocytes differentiation and cartilage formation. Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes, such as COL2A1 and AGC1. 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 SOX6, 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., [UniProtKB, UniProtKB]", "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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7Z8V0;F5H5B0;Q86UK8;Q8J017;Q8J018;Q8J019;Q8J020;Q8N1D9;Q8N7E0;Q8TEA4", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000976 transcription cis-regulatory region 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:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II;GO:0032332 positive regulation of chondrocyte differentiation;GO:0071560 cellular response to transforming growth factor beta stimulus;GO:0002062 chondrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P35711-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06830-1", "uniprot_id": [ { "id": "PRDX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06830", "type": "external" } ], "mass": 22110.0, "length": 199, "protein_name": "Peroxiredoxin-1", "gene_name": "PRDX1", "organism": "Human", "refseq_name": "peroxiredoxin-1", "refseq_ac": [ { "id": "NP_001189360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189360", "type": "external" } ], "gene_names_uniprotkb": "PRDX1; PAGA; PAGB; TDPX2", "gene_names_refseq": "MSP23; NKEF-A; NKEFA; PAGA; PAGB; PAG; PRDX1; PRX1; PRXI; TDPX2", "protein_names_uniprotkb": "Peroxiredoxin-1; 1.11.1.24; NKEF-A; Natural killer cell-enhancing factor A; PAG; Proliferation-associated gene protein; Thioredoxin peroxidase 2; Thioredoxin-dependent peroxide reductase 2; Thioredoxin-dependent peroxiredoxin 1", "protein_names_refseq": "epididymis secretory sperm binding protein; natural killer cell-enhancing factor A; natural killer-enhancing factor A; peroxiredoxin-1; proliferation-associated gene A; proliferation-associated gene protein; thioredoxin peroxidase 2; thioredoxin-dependent peroxide reductase 2; thioredoxin-dependent peroxiredoxin 1", "tax_id": 9606, "disease": "methylmalonic aciduria and homocystinuria type cblC (Disease Ontology:DOID:0050715)", "pathway": " (hsa:5052); (R-HSA-3000471); (R-HSA-3299685); (R-HSA-5628897); (R-HSA-8862803); (R-HSA-9818027)", "pathway_count": 6, "publication_count": 334, "publication_id_list": "10029572;10103054;10329961;10514471;10521424;10604467;10639123;10656833;10706635;10716435;10733945;10734051;10745013;10772654;10821856;10830966;10833429;10919671;10938017;10980602;10982;11018045;11029283;11034341;11139407;11237011;11309284;11340051;11486029;11507097;11518528;11545734;11853546;11861652;11886899;11912930;11959846;11986303;11988484;12059788;12105195;12138091;12161445;12203114;12234984;12235164;12438239;12446202;12453409;12506115;12651854;12714747;12714748;12829378;12853451;12869586;12906785;12947091;13298683;13538944;14651849;14654843;14726519;15044467;15046979;15064408;15105503;15223;15280035;15317809;15448164;15520857;15576377;15589136;15590058;15590625;15592455;15596429;15690042;15728556;15866482;15890005;15927447;16030018;16140933;16276419;16314513;16368683;16401067;16408927;16413492;16488891;16615992;16636147;1668270;16728594;16750198;16760263;16839880;16880213;17081065;17101731;17234762;17275676;17287340;17298220;17486094;17519234;17540029;1763037;17707404;17710648;17876058;17942419;18172504;18198340;18344994;18358825;18458151;18558917;18606987;18691386;18692468;18703498;18936159;18984734;19028565;19054851;19113821;19219623;19237602;19273602;19439913;19487573;19542232;19608619;19608861;19740737;19812042;19822145;1999334;20070187;20080666;20182617;20305658;20351271;20367259;20378837;20460467;20647304;20690882;2071038;21136679;21215271;21385867;21393238;21750704;21775727;21958598;21967640;21969592;22363791;22493009;22667998;22869735;22899714;22905912;22910329;22995213;23027624;23152058;23164639;23186163;23328677;23386615;23454490;23455484;23775793;24041992;24066844;24275569;24366874;24383451;24583716;24714562;24715725;24718924;25002527;25047527;25114211;25502872;25576301;25579166;25810538;26150388;26374642;26652033;26758079;26811146;26992070;27100828;27452731;27653015;27756681;27790215;27846572;27862975;28218747;28228285;28467828;28514659;28832583;28871256;28904123;28985506;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29693710;29769354;29774024;29786170;29959055;30192525;30315122;30397120;30429286;30484775;30524438;30833945;31020640;31217245;31222486;31559796;31597407;31611695;31844290;31848261;32119511;32157095;32161166;32284348;32350084;32357974;32387766;32488085;32601262;32897882;32938616;32983136;33043019;33043033;33141586;33214551;33298915;33462411;33592498;33691108;33774477;33912179;33936100;33968037;34019948;34078123;34357683;34509645;34525359;3457020;34725712;35008409;35051231;35083852;35132862;35138101;35154160;35251023;3532102;35580925;3619451;36241641;36284347;3693360;37164261;37217939;37259925;37468052;37938771;37955780;38665916;38738971;40596516;5389100;5666113;60;6286671;6961438;7021796;7172448;7487923;7536797;7685021;7688729;7698360;7959763;7979252;7989588;8026862;807573;8119488;8379940;8428933;8452552;8496166;8663465;9148942;9211901;9228946;9240432;9254056;9295278;9369223;9409200;9497357;9639555;9726962;9834113;9923614;9926927", "class_list": "", "function": "A metabolic map of the DNA damage response identifies PRDX1 in the control of nuclear ROS scavenging and aspartate availability., [RefSeq, PubMed]; LncFASA promotes cancer ferroptosis via modulating PRDX1 phase separation., [RefSeq, PubMed]; Peroxiredoxin 1 aggravates acute kidney injury by promoting inflammation through Mincle/Syk/NF-kappaB signaling., [RefSeq, PubMed]; The PRX-1/TLR4 axis promotes hypoxia-induced radiotherapy resistance in non-small cell lung cancer by targeting the NF-kappaB/p65 pathway., [RefSeq, PubMed]; The interaction of PRDX1 with Cofilin promotes oral squamous cell carcinoma metastasis., [RefSeq, PubMed]; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2) (PubMed:9497357). Reduces an intramolecular disulfide bond in GDPD5 that gates the ability to GDPD5 to drive postmitotic motor neuron differentiation (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011]., [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": 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": 9, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5BU26;D3DPZ8;P35703;Q2V576;Q5T154;Q5T155", "ec_number_list": [ { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.98.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.98.2", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0008379 thioredoxin peroxidase activity;GO:0004601 peroxidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0008283 cell population proliferation;GO:0001501 skeletal system development;GO:0045454 cell redox homeostasis;GO:0019430 removal of superoxide radicals", "synthesized_glycan_count": 0, "hit_score": 33.7, "record_id": "Q06830-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13807-1", "uniprot_id": [ { "id": "GYS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P13807", "type": "external" } ], "mass": 83786.0, "length": 737, "protein_name": "Glycogen [starch] synthase, muscle", "gene_name": "GYS1", "organism": "Human", "refseq_name": "glycogen [starch] synthase, muscle isoform 2", "refseq_ac": [ { "id": "NP_001155059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155059", "type": "external" } ], "gene_names_uniprotkb": "GYS1; GYS", "gene_names_refseq": "GSY; GYS1; GYS", "protein_names_uniprotkb": "Glycogen [starch] synthase, muscle; 2.4.1.11; Glycogen synthase 1", "protein_names_refseq": "glycogen [starch] synthase, muscle isoform 2; glycogen [starch] synthase, muscle; glycogen synthase 1 (muscle)", "tax_id": 9606, "disease": "muscle glycogen storage disease (Disease Ontology:DOID:0061272); cardiovascular system disease (Disease Ontology:DOID:1287); Lafora disease (Disease Ontology:DOID:3534)", "pathway": " (hsa:2997); (R-HSA-3322077); (R-HSA-3785653); (R-HSA-3814836); (R-HSA-3828062)", "pathway_count": 5, "publication_count": 132, "publication_id_list": "11237011;11427888;12958597;14532330;14593110;14680475;15791206;15930137;16275910;17055998;17081983;17928598;18040046;18070875;18669648;18691976;19413330;19651622;19664994;19690332;19699667;20068231;20357282;20538597;2117608;21356517;21668450;22248338;22645359;22815132;23186163;23481700;23663739;24275569;24366607;2493642;2498326;25416783;25418920;25538239;25544560;25576301;25880248;25892735;26024233;26154972;26216881;26375851;26811146;26929215;26992070;27452731;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;30315122;30429286;30484775;30779550;31154438;31217245;31492838;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33219378;33298915;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34932366;35051231;35138101;35561310;35580925;35690592;35705054;35793618;35835870;36010968;36215666;36241641;36284347;37938771;40914422;4829444;5348606;5427280;6772446;7657035;7902568;8613547;8631325;9010351;9346895;9691087;9771710;9931343", "class_list": "glycogene;glycosyltransferase", "function": "Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context, glycogen synthase transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]., [RefSeq]; The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex., [RefSeq, PubMed]; Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan., [UniProtKB, UniProtKB]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 45, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 968, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q9BTT9", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "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": "2.4.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.11", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "2.4.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.18", "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:0004373 alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity;GO:0005536 D-glucose binding;GO:0061547 glycogen synthase activity, transferring glucose-1-phosphate", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0016234 inclusion body", "go_biological_process": "GO:0005978 glycogen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "P13807-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14544-1", "uniprot_id": [ { "id": "SOCS6_HUMAN", "url": "https://www.uniprot.org/uniprot/O14544", "type": "external" } ], "mass": 59528.0, "length": 535, "protein_name": "Suppressor of cytokine signaling 6", "gene_name": "SOCS6", "organism": "Human", "refseq_name": "suppressor of cytokine signaling 6", "refseq_ac": [ { "id": "NP_004223", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004223", "type": "external" } ], "gene_names_uniprotkb": "SOCS6; CIS4; SOCS4", "gene_names_refseq": "CIS-4; CIS4; HSPC060; SOCS-4; SOCS-6; SOCS4; SOCS6; SSI4; STAI4; STATI4", "protein_names_uniprotkb": "Suppressor of cytokine signaling 6; CIS-4; Cytokine-inducible SH2 protein 4; SOCS-4; SOCS-6; Suppressor of cytokine signaling 4", "protein_names_refseq": "STAT induced STAT inhibitor-4; cytokine-inducible SH2 protein 4; suppressor of cytokine signaling 4; suppressor of cytokine signaling 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:9306); (R-HSA-1433559); (R-HSA-8951664); (R-HSA-9706369)", "pathway_count": 4, "publication_count": 183, "publication_id_list": "10374881;10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;11994499;12024036;12101228;12186903;12444928;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15526160;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16129412;16171779;16401342;16547496;16647857;16684964;16707496;16780420;16790436;16943200;17081101;17110436;17132228;17183367;17220875;17332328;17446348;17497243;17785452;17904548;18093314;18192505;18206966;18588518;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19276253;19321346;19617556;19748355;21030588;21072051;21262971;21447816;21463634;21778237;21863050;21940857;22306028;22438257;22466964;22537386;22942183;22952242;22959436;23201271;23300935;23333871;23401859;23453757;23535662;23535663;23548639;23563313;23583660;23707526;23912815;23986495;24029068;24076655;24366543;24636985;24705897;24793695;24793696;25314029;25349211;25355947;25531226;25576301;26308771;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27458164;27565346;27666490;27920218;28086240;28115426;28411811;28611190;28832583;28904123;29153394;29242379;29393594;29557506;29880609;30429286;30610225;30779550;31066629;31154438;31222486;31844290;31848261;32005965;32157095;32161166;32265295;32284348;32357974;32387766;32938616;33298915;33392160;33444648;33592498;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34895274;35038704;35051231;35907010;36010968;36241641;37972389;38766781;7520444;7539802;7684496;9344848;9528781;9790970;9887101;9891082", "class_list": "", "function": "Down-regulation of SOCS6: an unfavorable prognostic factor for gastrointestinal stromal tumor proven by survival analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Extracellular vesicle-encapsulated microRNA-296-3p from cancer-associated fibroblasts promotes ovarian cancer development through regulation of the PTEN/AKT and SOCS6/STAT3 pathways., [RefSeq, PubMed]; Methyltransferase-like 3 facilitates lung cancer progression by accelerating m6A methylation-mediated primary miR-663 processing and impeding SOCS6 expression., [RefSeq, PubMed]; MicroRNA-494-3p Exacerbates Renal Epithelial Cell Dysfunction by Targeting SOCS6 under High Glucose Treatment., [RefSeq, PubMed]; Publisher Correction: MiR-21 and miR-183 can simultaneously target SOCS6 and modulate growth and invasion of hepatocellular carcinoma (HCC) cells. Correction to:[Eur Rev Med Pharmacol Sci. 2015 Sep;19(17):3208-17. PMID: 26400524], [RefSeq, PubMed]; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). Regulates KIT degradation by ubiquitination of the tyrosine-phosphorylated receptor., [UniProtKB, PubMed]; The protein encoded by this gene contains a SH2 domain and a CIS homolog domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by GM-CSF and EPO in hematopoietic cells. A high expression level of this gene was found in factor-independent chronic myelogenous leukemia (CML) and erythroleukemia (HEL) cell lines. [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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "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": "Q8WUM3", "ec_number_list": [], "go_molecular_function": "GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001772 immunological synapse", "go_biological_process": "GO:0006952 defense response;GO:0035556 intracellular signal transduction;GO:0040008 regulation of growth;GO:0016567 protein ubiquitination;GO:0009968 negative regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "O14544-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95257-1", "uniprot_id": [ { "id": "GA45G_HUMAN", "url": "https://www.uniprot.org/uniprot/O95257", "type": "external" } ], "mass": 17121.0, "length": 159, "protein_name": "Growth arrest and DNA damage-inducible protein GADD45 gamma", "gene_name": "GADD45G", "organism": "Human", "refseq_name": "growth arrest and DNA damage-inducible protein GADD45 gamma", "refseq_ac": [ { "id": "NP_006696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006696", "type": "external" } ], "gene_names_uniprotkb": "GADD45G; CR6; DDIT2", "gene_names_refseq": "CR6; DDIT2; GADD45G; GADD45gamma; GRP17", "protein_names_uniprotkb": "Growth arrest and DNA damage-inducible protein GADD45 gamma; Cytokine-responsive protein CR6; DDIT-2; DNA damage-inducible transcript 2 protein", "protein_names_refseq": "DDIT-2; DNA damage-inducible transcript 2 protein; GADD45-gamma; cytokine-responsive protein CR6; gadd-related protein, 17 kD; growth arrest and DNA damage-inducible protein GADD45 gamma", "tax_id": 9606, "disease": "mesangial proliferative glomerulonephritis (Disease Ontology:DOID:4783)", "pathway": " (hsa:10912)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10597261;10773677;11237011;12716909;22058036;29242379;29557506;30429286;34788311;35137664;37833694;38582902;39206984;9827804", "class_list": "", "function": "Circular RNA circCHFR downregulation protects against oxidized low-density lipoprotein-induced endothelial injury via regulation of microRNA-15b-5p/growth arrest and DNA damage inducible gamma., [RefSeq, PubMed]; Gadd45g insufficiency drives the pathogenesis of myeloproliferative neoplasms. Publication Status: Online-Only, [RefSeq, PubMed]; Identify GADD45G as a potential target of 4-methoxydalbergione in treatment of liver cancer: bioinformatics analysis and in vivo experiment. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK., [UniProtKB, UniProtKB, UniProtKB]; MAGEH1 interacts with GADD45G and induces renal tubular cell apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; The role of GADD45G methylation in endometrial cancer: Insights into CDK1/CCNB1 activation and therapeutic opportunities., [RefSeq, PubMed]; This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [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, "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": 6, "reported_glycation": 0, "reported_snv": 1, "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": "Q5VZ87;Q9C076", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0030154 cell differentiation;GO:0043065 positive regulation of apoptotic process;GO:0046330 positive regulation of JNK cascade;GO:0006915 apoptotic process;GO:1900745 positive regulation of p38MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "O95257-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43559-1", "uniprot_id": [ { "id": "FRS3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43559", "type": "external" } ], "mass": 54462.0, "length": 492, "protein_name": "Fibroblast growth factor receptor substrate 3", "gene_name": "FRS3", "organism": "Human", "refseq_name": "fibroblast growth factor receptor substrate 3", "refseq_ac": [ { "id": "NP_006644", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006644", "type": "external" } ], "gene_names_uniprotkb": "FRS3", "gene_names_refseq": "FRS2-beta; FRS2B; FRS2beta; FRS3; SNT-2; SNT2", "protein_names_uniprotkb": "Fibroblast growth factor receptor substrate 3; FGFR substrate 3; FGFR-signaling adaptor SNT2; SNT-2; Suc1-associated neurotrophic factor target 2", "protein_names_refseq": "FGFR substrate 3; FGFR-signaling adaptor SNT2; fibroblast growth factor receptor substrate 3; suc1-associated neurotrophic factor target 2 (FGFR signalling adaptor); testicular tissue protein Li 71", "tax_id": 9606, "disease": "", "pathway": " (hsa:10817); (R-HSA-5654693); (R-HSA-5654700); (R-HSA-5654706); (R-HSA-5654712); (R-HSA-5673001); (R-HSA-9028731); (R-HSA-9696270); (R-HSA-9696273); (R-HSA-9725370)", "pathway_count": 10, "publication_count": 198, "publication_id_list": "10196222;10216106;10508167;10556217;10629055;10664463;10702393;10706082;10706887;10869344;10934142;11027663;11090077;11110708;11136978;11237011;11280786;11310834;11313946;11353842;11432792;11447289;11504915;11546808;11702783;11751994;11784792;11850821;11940653;11943732;11988758;12032311;12094235;12112524;12121613;12185581;12244061;12419216;12424201;12750159;12800156;12842009;12920229;12934099;14506247;14534538;14707138;14732713;14962911;15094036;15169778;15208656;15356145;15374880;1545823;15485655;15546878;15588951;15738000;15895073;16153455;16161041;16170336;16481321;16627759;16684964;16825495;16871283;16939498;17086210;1716764;17227708;17353907;17416736;17483340;17625570;17998941;18097461;18373495;18452557;18593892;18594010;18701132;18724359;18775330;18923523;18923524;18923525;1898771;18996843;19103606;19136556;19187780;19279408;19456272;19459784;19920141;20228838;20454865;20478380;20811643;21102635;21134980;21164297;21213368;21372320;21415216;21494621;21596819;21656749;21779497;21779505;21838707;21847362;21993244;22249260;22327622;22347464;22569528;22570254;22589270;22658521;22750304;23103841;23104988;23139213;23201355;23239810;23279575;23303910;23443682;23575685;23661334;23957430;24060861;24445538;24470253;24475247;24496003;24518094;24613930;24690281;24736082;24897931;24937142;25219551;25342631;25393796;25421750;25781681;25813404;25888806;25921060;26001147;26062823;26085527;26301689;26969432;27245569;27573755;27874193;28404650;28659337;28741662;28778966;29242379;29455642;29485866;29557506;29873274;30131584;30692217;31135801;31366041;31871319;35051231;6148751;7559490;7809086;7824924;7935463;7972015;8052307;8394845;8493579;8633037;8665852;8710374;8780727;8939933;9182757;9299490;9531558;9604935;9632781;9660748;9819383;9927426", "class_list": "", "function": "Adapter protein that links FGF and NGF receptors to downstream signaling pathways. Involved in the activation of MAP kinases. Down-regulates ERK2 signaling by interfering with the phosphorylation and nuclear translocation of ERK2., [UniProtKB, PubMed]; An FRS2beta-CIN85/CD2AP-Cbl axis for downregulation of ErbB2 may regulate ErbB2 protein levels in physiological and pathological settings, [RefSeq, PubMed]; Mechanisms by which FRS2beta acts as a feedback inhibitor of EGFR family members and suggest a role for FRS2beta as a tumor suppressor., [RefSeq, PubMed]; This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "Q5T3D5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0008543 fibroblast growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "O43559-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPC6-1", "uniprot_id": [ { "id": "MYOZ2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPC6", "type": "external" } ], "mass": 29898.0, "length": 264, "protein_name": "Myozenin-2", "gene_name": "MYOZ2", "organism": "Human", "refseq_name": "myozenin-2 isoform 1", "refseq_ac": [ { "id": "NP_057683", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057683", "type": "external" } ], "gene_names_uniprotkb": "MYOZ2; C4orf5", "gene_names_refseq": "C4orf5; CMH16; CS-1; FATZ-2; MYOZ2", "protein_names_uniprotkb": "Myozenin-2; Calsarcin-1; FATZ-related protein 2", "protein_names_refseq": "FATZ-related protein 2; calcineurin-binding protein calsarcin-1; muscle-specific protein; myozenin-2 isoform 1", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy 16 (Disease Ontology:DOID:0110322)", "pathway": " (hsa:51778)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11114196;11161785;11842093;16076904;17347475;17434779;29557506", "class_list": "", "function": "Mutations in MYOZ1 and MYOZ2 are at least very rare events as an underlying disease mechanism for idiopathic or familial DCM, [RefSeq, PubMed]; Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis., [UniProtKB]; The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]., [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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "O43415;Q9HB92", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0030346 protein phosphatase 2B binding;GO:0051373 FATZ binding;GO:0031433 telethonin binding", "go_cellular_component": "GO:0015629 actin cytoskeleton;GO:0030017 sarcomere;GO:0030018 Z disc", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0043503 skeletal muscle fiber adaptation;GO:0070885 negative regulation of calcineurin-NFAT signaling cascade;GO:0045214 sarcomere organization;GO:0007519 skeletal muscle tissue development", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9NPC6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60260-1", "uniprot_id": [ { "id": "PRKN_HUMAN", "url": "https://www.uniprot.org/uniprot/O60260", "type": "external" } ], "mass": 51641.0, "length": 465, "protein_name": "E3 ubiquitin-protein ligase parkin", "gene_name": "PRKN", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase parkin isoform 1", "refseq_ac": [ { "id": "NP_004553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004553", "type": "external" } ], "gene_names_uniprotkb": "PRKN; PARK2", "gene_names_refseq": "AR-JP; LPRS2; PARK2; PDJ; PRKN", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase parkin; 2.3.2.31; Parkin RBR E3 ubiquitin-protein ligase; Parkinson disease protein 2; Parkinson juvenile disease protein 2; Parkin", "protein_names_refseq": "E3 ubiquitin-protein ligase parkin isoform 1; Parkinson disease (autosomal recessive, juvenile) 2, parkin; parkinson juvenile disease protein 2; parkinson protein 2 E3 ubiquitin protein ligase; parkinson protein 2, E3 ubiquitin protein ligase (parkin)", "tax_id": 9606, "disease": "opportunistic bacterial infectious disease (Disease Ontology:DOID:0050340); cardiomyopathy (Disease Ontology:DOID:0050700); Parkinson's disease 2 (Disease Ontology:DOID:0060368); Parkinson's disease 6 (Disease Ontology:DOID:0060369); late onset Parkinson's disease (Disease Ontology:DOID:0060892); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); Alzheimer's disease (Disease Ontology:DOID:10652); Lewy body dementia (Disease Ontology:DOID:12217); lung cancer (Disease Ontology:DOID:1324); Parkinson's disease (Disease Ontology:DOID:14330); multiple sclerosis (Disease Ontology:DOID:2377); ovarian cancer (Disease Ontology:DOID:2394); cervical cancer (Disease Ontology:DOID:4362); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5071); (R-HSA-5205685); (R-HSA-5675482); (R-HSA-5689877); (R-HSA-9646399); (R-HSA-977225); (R-HSA-983168)", "pathway_count": 7, "publication_count": 230, "publication_id_list": "10072423;10089880;10097139;10319874;10319893;10391242;10411933;10491388;10511432;10583407;10824074;10888878;10915768;10939576;10956649;10965160;10973942;11062501;11078524;11163284;11179010;11237011;11278841;11350924;11401442;11431533;11439185;11467836;11487568;11590439;118839;11971093;12024216;12056932;12112109;12114481;12116199;12150907;12362318;12397156;12446796;12454989;12628165;12629236;12634850;12646216;1270801;12719539;12730996;12781599;12925569;14506261;14532270;14567678;14614460;14675537;14734113;14976155;15064394;15105460;15224091;15224092;15229644;15571818;15584030;15728840;15962837;15987638;16135753;16174740;16282325;16332688;16352719;16595681;16799559;16849449;16954532;16955485;17327227;17360614;17425515;17644308;17696782;17785525;17846173;18065497;18070888;1837051;18449172;18484335;1849145;18541373;18570872;18599482;18662542;18957282;19011241;19028597;19029340;19229105;19352404;19432818;19452197;19489725;19501131;19658395;19801972;19828817;19851334;19874575;19940261;19966284;20126261;20404107;20676056;20712405;20798600;20807650;20823226;20889486;20889974;20940148;21115803;2118650;21194381;21209200;21376232;21532592;21617041;21737330;21753002;2195544;22065755;22082830;22131221;22396657;2261476;22724072;22956510;23515720;23620051;23685073;23727886;23754282;23770887;23770917;23813966;23933751;2409350;24200693;24270810;24660806;24751536;24784582;24833601;24893886;24896179;24898855;25474007;25523424;25527291;25527497;25621951;25852146;25996294;26018760;26116755;26365381;26417681;26668317;26686862;26775703;26807092;26866270;26900751;26933192;27035970;27247382;27534820;27535533;279930;28661484;2900981;29311685;29394115;29883609;29883610;29930286;29995846;3035556;30379171;3053705;30770249;3080684;3094007;31031142;31138766;31358971;3142462;32047033;32296703;33112198;33499712;34999730;35051231;35105670;36010968;36217155;3675579;37217939;38287189;39221915;39285229;39300082;39456270;8033412;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9380723;9560156;9668046;9731209;9862427;9864362", "class_list": "", "function": "Activation of parkin by a molecular glue. Publication Status: Online-Only, [RefSeq, PubMed]; Additional feedforward mechanism of Parkin activation via binding of phospho-UBL and RING0 in trans. Publication Status: Online-Only, [RefSeq, PubMed]; Cooperative Substructure and Energetics of Allosteric Regulation of the Catalytic Core of the E3 Ubiquitin Ligase Parkin by Phosphorylated Ubiquitin. Publication Status: Online-Only, [RefSeq, PubMed]; Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:10888878, PubMed:10973942, PubMed:11431533, PubMed:12150907, PubMed:12628165, PubMed:15105460, PubMed:16135753, PubMed:21376232, PubMed:21532592, PubMed:22396657, PubMed:23620051, PubMed:23754282, PubMed:24660806, PubMed:24751536, PubMed:29311685, PubMed:32047033). Substrates include SYT11 and VDAC1 (PubMed:29311685, PubMed:32047033). Other substrates are BCL2, CCNE1, GPR37, RHOT1/MIRO1, MFN1, MFN2, STUB1, SNCAIP, SEPTIN5, TOMM20, USP30, ZNF746, MIRO1 and AIMP2 (PubMed:10888878, PubMed:10973942, PubMed:11431533, PubMed:12150907, PubMed:12628165, PubMed:15105460, PubMed:16135753, PubMed:21376232, PubMed:21532592, PubMed:22396657, PubMed:23620051, PubMed:23754282, PubMed:24660806, PubMed:24751536). Mediates monoubiquitination as well as 'Lys-6', 'Lys-11', 'Lys-48'-linked and 'Lys-63'-linked polyubiquitination of substrates depending on the context (PubMed:19229105, PubMed:20889974, PubMed:25474007, PubMed:25621951, PubMed:32047033). Participates in the removal and/or detoxification of abnormally folded or damaged protein by mediating 'Lys-63'-linked polyubiquitination of misfolded proteins such as PARK7: 'Lys-63'-linked polyubiquitinated misfolded proteins are then recognized by HDAC6, leading to their recruitment to aggresomes, followed by degradation (PubMed:17846173, PubMed:19229105). Mediates 'Lys-63'-linked polyubiquitination of a 22 kDa O-linked glycosylated isoform of SNCAIP, possibly playing a role in Lewy-body formation (PubMed:11431533, PubMed:11590439, PubMed:15105460, PubMed:15728840, PubMed:19229105). Mediates monoubiquitination of BCL2, thereby acting as a positive regulator of autophagy (PubMed:20889974). Protects against mitochondrial dysfunction during cellular stress, by acting downstream of PINK1 to coordinate mitochondrial quality control mechanisms that remove and replace dysfunctional mitochondrial components (PubMed:11439185, PubMed:18957282, PubMed:19029340, PubMed:19966284, PubMed:21376232, PubMed:22082830, PubMed:22396657, PubMed:23620051, PubMed:23933751, PubMed:24660806, PubMed:24784582, PubMed:24896179, PubMed:25474007, PubMed:25527291, PubMed:32047033). Depending on the severity of mitochondrial damage and/or dysfunction, activity ranges from preventing apoptosis and stimulating mitochondrial biogenesis to regulating mitochondrial dynamics and eliminating severely damaged mitochondria via mitophagy (PubMed:11439185, PubMed:19029340, PubMed:19801972, PubMed:19966284, PubMed:21376232, PubMed:22082830, PubMed:22396657, PubMed:23620051, PubMed:23685073, PubMed:23933751, PubMed:24896179, PubMed:25527291, PubMed:32047033, PubMed:33499712). Activation and recruitment onto the outer membrane of damaged/dysfunctional mitochondria (OMM) requires PINK1-mediated phosphorylation of both PRKN and ubiquitin (PubMed:24660806, PubMed:24784582, PubMed:25474007, PubMed:25527291). After mitochondrial damage, functions with PINK1 to mediate the decision between mitophagy or preventing apoptosis by inducing either the poly- or monoubiquitination of VDAC1, respectively; polyubiquitination of VDAC1 promotes mitophagy, while monoubiquitination of VDAC1 decreases mitochondrial calcium influx which ultimately inhibits apoptosis (PubMed:27534820, PubMed:32047033). When cellular stress results in irreversible mitochondrial damage, promotes the autophagic degradation of dysfunctional depolarized mitochondria (mitophagy) by promoting the ubiquitination of mitochondrial proteins such as TOMM20, RHOT1/MIRO1, MFN1 and USP30 (PubMed:19029340, PubMed:19966284, PubMed:21753002, PubMed:22396657, PubMed:23620051, PubMed:23685073, PubMed:23933751, PubMed:24896179, PubMed:25527291). Preferentially assembles 'Lys-6'-, 'Lys-11'- and 'Lys-63'-linked polyubiquitin chains, leading to mitophagy (PubMed:25621951, PubMed:32047033). The PINK1-PRKN pathway also promotes fission of damaged mitochondria by PINK1-mediated phosphorylation which promotes the PRKN-dependent degradation of mitochondrial proteins involved in fission such as MFN2 (PubMed:23620051). This prevents the refusion of unhealthy mitochondria with the mitochondrial network or initiates mitochondrial fragmentation facilitating their later engulfment by autophagosomes (PubMed:23620051). Regulates motility of damaged mitochondria via the ubiquitination and subsequent degradation of MIRO1 and MIRO2; in motor neurons, this likely inhibits mitochondrial intracellular anterograde transport along the axons which probably increases the chance of the mitochondria undergoing mitophagy in the soma (PubMed:22396657). Involved in mitochondrial biogenesis via the 'Lys-48'-linked polyubiquitination of transcriptional repressor ZNF746/PARIS which leads to its subsequent proteasomal degradation and allows activation of the transcription factor PPARGC1A (PubMed:21376232). Limits the production of reactive oxygen species (ROS) (PubMed:18541373). Regulates cyclin-E during neuronal apoptosis (PubMed:12628165). In collaboration with CHPF isoform 2, may enhance cell viability and protect cells from oxidative stress (PubMed:22082830). Independently of its ubiquitin ligase activity, protects from apoptosis by the transcriptional repression of p53/TP53 (PubMed:19801972). May protect neurons against alpha synuclein toxicity, proteasomal dysfunction, GPR37 accumulation, and kainate-induced excitotoxicity (PubMed:11439185). May play a role in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent exocytosis. May represent a tumor suppressor gene (PubMed:12719539)., [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, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]., [RefSeq]; The tumor suppressor Parkin exerts anticancer effects through regulating mitochondrial GAPDH activity., [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": 7, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A3FG77;A8K975;D3JZW7;D3K2X0;Q5TFV8;Q5VVX4;Q6Q2I6;Q8NI41;Q8NI43;Q8NI44;Q8WW07", "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": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "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": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.124", "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:0003779 actin binding;GO:0008270 zinc ion binding;GO:0017124 SH3 domain binding;GO:0019899 enzyme binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:1990452 Parkin-FBXW7-Cul1 ubiquitin ligase complex;GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:1903427 negative regulation of reactive oxygen species biosynthetic process;GO:1903861 positive regulation of dendrite extension;GO:0010636 positive regulation of mitochondrial fusion;GO:0032368 regulation of lipid transport;GO:2001171 positive regulation of ATP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 23.3, "record_id": "O60260-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8W4-1", "uniprot_id": [ { "id": "PKHF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8W4", "type": "external" } ], "mass": 27798.0, "length": 249, "protein_name": "Pleckstrin homology domain-containing family F member 2", "gene_name": "PLEKHF2", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family F member 2", "refseq_ac": [ { "id": "NP_078889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078889", "type": "external" } ], "gene_names_uniprotkb": "PLEKHF2; ZFYVE18", "gene_names_refseq": "EAPF; PHAFIN2; PLEKHF2; ZFYVE18", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family F member 2; EAPF; Endoplasmic reticulum-associated apoptosis-involved protein containing PH and FYVE domains; PH and FYVE domain-containing protein 2; PH domain-containing family F member 2; Phafin-2; Phafin2; Zinc finger FYVE domain-containing protein 18", "protein_names_refseq": "PH and FYVE domain-containing protein 2; PH domain-containing family F member 2; endoplasmic reticulum-associated apoptosis-involved protein containing PH and FYVE domains; pleckstrin homology domain containing, family F (with FYVE domain) member 2; pleckstrin homology domain-containing family F member 2; zinc finger FYVE domain-containing protein 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:79666)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "17081983;18288467;18669648;19608861;19651622;19995552;20058876;20068231;20166139;21406692;22816767;23186163;23481700;24714562;26154972;26728094;26992070;27846572;28228285;28514659;28832583;28834231;29242379;29314611;29557506;30315122;31217245;31844290;32126233;32619574;32938616;32983136;33592498;33691108;34357683;34772942;34932366;35051231;35580925;36215666;36581221", "class_list": "", "function": "Bioinformatics analysis of the genes involved in the extension of prostate cancer to adjacent lymph nodes by supervised and unsupervised machine learning methods: The role of SPAG1 and PLEKHF2., [RefSeq, PubMed]; May play a role in early endosome fusion upstream of RAB5, hence regulating receptor trafficking and fluid-phase transport. Enhances cellular sensitivity to TNF-induced apoptosis (PubMed:18288467)., [UniProtKB, PubMed, PubMed, PubMed]; Phafin2 controls EGFR trafficking through early endosomes by facilitating endosome fusion in concert with EEA1., [RefSeq, PubMed]; Results demonstrate that EAPF/Phafin-2 facilitates TNF-alpha-induced cellular apoptosis through an ER-mitochondrial apoptotic pathway., [RefSeq, PubMed]; The C-terminal acidic motif of Phafin2 inhibits PH domain binding to phosphatidylinositol 3-phosphate., [RefSeq, PubMed]; The phosphoinositide coincidence detector Phafin2 promotes macropinocytosis by coordinating actin organisation at forming macropinosomes. Publication Status: Online-Only, [RefSeq, PubMed]; These results provide a vivid example that an endosome modulator, such as Phafin2, may control the cells' responses to the extracellular cues., [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": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0031901 early endosome membrane;GO:0030133 transport vesicle", "go_biological_process": "GO:0015031 protein transport;GO:0007032 endosome organization;GO:0008333 endosome to lysosome transport", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9H8W4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75360-1", "uniprot_id": [ { "id": "PROP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75360", "type": "external" } ], "mass": 24984.0, "length": 226, "protein_name": "Homeobox protein prophet of Pit-1", "gene_name": "PROP1", "organism": "Human", "refseq_name": "homeobox protein prophet of Pit-1", "refseq_ac": [ { "id": "NP_006252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252", "type": "external" } ], "gene_names_uniprotkb": "PROP1", "gene_names_refseq": "CPHD2; PROP-1; PROP1", "protein_names_uniprotkb": "Homeobox protein prophet of Pit-1; PROP-1; Pituitary-specific homeodomain factor", "protein_names_refseq": "homeobox protein prophet of Pit-1; pituitary-specific homeodomain factor; prophet of Pit1, paired-like homeodomain transcription factor", "tax_id": 9606, "disease": "combined pituitary hormone deficiency 2 (Disease Ontology:DOID:0061020); hypogonadism (Disease Ontology:DOID:1924); hypopituitarism (Disease Ontology:DOID:9406)", "pathway": " (hsa:5626)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10946881;11549703;12519826;15531542;19128366;31948187;33936100;36984475;38147295;39894887;9462743;9768691;9824293", "class_list": "", "function": "Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins. Erratum:[Hormones (Athens). 2024 Jun;23(2):357. doi: 10.1007/s42000-024-00543-0. PMID: 38498234], [RefSeq, PubMed]; Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency, [RefSeq, PubMed]; Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin 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:0008013 beta-catenin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0007417 central nervous system development;GO:0021983 pituitary gland development", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "O75360-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3I0-1", "uniprot_id": [ { "id": "RTCB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3I0", "type": "external" } ], "mass": 55210.0, "length": 505, "protein_name": "RNA-splicing ligase RTCB", "gene_name": "RTCB", "organism": "Human", "refseq_name": "RNA-splicing ligase RTCB", "refseq_ac": [ { "id": "NP_055121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055121", "type": "external" } ], "gene_names_uniprotkb": "RTCB; C22orf28; HSPC117", "gene_names_refseq": "C22orf28; DJ149A16.6; FAAP; HSPC117; RTCB", "protein_names_uniprotkb": "RNA-splicing ligase RTCB; 3'-phosphate/5'-hydroxy nucleic acid ligase; 6.5.1.8; RNA 2',3'-cyclic phosphate and 5'-OH ligase", "protein_names_refseq": "3'-phosphate/5'-hydroxy nucleic acid ligase; RNA-splicing ligase RTCB; RNA-splicing ligase RtcB homolog; ankyrin repeat domain 54; focal adhesion-associated protein; tRNA-splicing ligase RtcB homolog", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:51493); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 141, "publication_id_list": "10444065;10931946;11455963;11727826;11871657;12138183;12526808;12711671;12729736;14654843;15109492;15312650;15317868;16236267;16361254;16710424;17204286;17224653;17287340;18226598;18809514;18984158;21311021;21450806;21559454;21593607;21740066;22424782;22544926;22944664;23186163;23481700;24366607;24608264;2470644;24715725;24870230;25378478;25418920;25576301;25640237;25645385;25849199;25892735;26154972;26375851;26483401;26811146;26853435;26929215;26992070;27600516;27726376;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28510447;28649982;28832583;28834231;28860189;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;30315122;30397120;30410026;30429286;30524438;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34725712;34854379;35051231;35083852;35138101;35318648;35561310;35580925;36010968;36241641;36284347;37217939;37556111;37938771;38253038;38493148;38665916;39990658;40069351;40596516;6930639;7759547;7828588;9512417;9660920", "class_list": "", "function": "3'-5' RNA ligase, catalytic subunit of the tRNA-splicing ligase complex (tRNA-LC), which is involved in the enzyme-dependent maturation of intron-containing pre-tRNAs. Functions downstream of the tRNA-splicing endonuclease that removes introns, ligating the two generated halves via phosphodiester bond formation (PubMed:40069351). The ligation reaction, which requires guanosine triphosphate (GTP) and Mn(2+), proceeds through three metal-dependent steps. The first step requires ZBTB8OS/Archease and involves the guanylylation of RTCB at its active site histidine, forming a covalent GMP-histidine intermediate. Before the second step, RTCB also hydrolyzes the 2',3'-cyclic phosphate (cP) at the 3' end of the 5' tRNA exon, typically generated by the tRNA-splicing endonuclease, producing a 3' phosphate. The covalently bound GMP is then transferred to this 3' phosphate to form an RNA(3')-P-P-(5')G intermediate. In the final step, the 5'-OH of the 3' exon attacks the activated 3' end of the 5' exon, forming a 3'-5' phosphodiester bond and releasing GMP (PubMed:24870230, PubMed:38493148). RTCB also functions in non-canonical, spliceosome-independent, cytoplasmic splicing of XBP1 mRNAs during the unfolded protein response (UPR). Upon endoplasmic reticulum (ER) stress, the endoribonuclease IRE1/ERN1 excises a short intron, generating free exon ends that are aligned by RNA-intrinsic, zipper-like stem-loop structures. These exon ends are then recognized and ligated by RTCB. This splicing event yields the active XBP1s transcription factor, which induces genes required to resolve protein folding defects in the endoplasmic reticulum (PubMed:25378478, PubMed:26483401, PubMed:38493148)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Molecular architecture of the human tRNA ligase complex. Publication Status: Online-Only, [RefSeq, PubMed]; Structural and mechanistic insights into activation of the human RNA ligase RTCB by Archease. Publication Status: Online-Only, [RefSeq, PubMed]; The RNA-Splicing Ligase RTCB Promotes Influenza A Virus Replication by Suppressing Innate Immunity via Interaction with RNA Helicase DDX1., [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": 5, "reported_glycation": 0, "reported_snv": 12, "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": "B2R6A8;Q6IAI0;Q9BWL4;Q9NTH1;Q9P037;Q9P0J3", "ec_number_list": [ { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "6.5.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.8", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0017166 vinculin binding;GO:0170057 RNA ligase (GTP) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0070054 mRNA splicing, via endonucleolytic cleavage and ligation;GO:0036498 IRE1-mediated unfolded protein response;GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation;GO:0000394 RNA splicing, via endonucleolytic cleavage and ligation;GO:0000968 tRNA exon ligation", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "Q9Y3I0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14796-1", "uniprot_id": [ { "id": "SH21B_HUMAN", "url": "https://www.uniprot.org/uniprot/O14796", "type": "external" } ], "mass": 15297.0, "length": 132, "protein_name": "SH2 domain-containing protein 1B", "gene_name": "SH2D1B", "organism": "Human", "refseq_name": "SH2 domain-containing protein 1B", "refseq_ac": [ { "id": "NP_444512", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_444512", "type": "external" } ], "gene_names_uniprotkb": "SH2D1B; EAT2", "gene_names_refseq": "EAT2; SH2D1B", "protein_names_uniprotkb": "SH2 domain-containing protein 1B; EAT-2; EWS/FLI1-activated transcript 2", "protein_names_refseq": "EAT-2; EWS/FLI1-activated transcript 2; SH2 domain-containing molecule EAT2; SH2 domain-containing protein 1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:117157); (R-HSA-198933)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10499918;10746781;11265639;11489943;11513152;11556966;11689425;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12115647;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;19592130;20730098;21219180;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;24642916;24687958;25703557;25716998;26284469;26300885;27586300;29242379;7531291;7542404;8178173;8995416;9000139;9285412;9314561;9700512;9730896", "class_list": "", "function": "By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]., [RefSeq]; Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as CD84, SLAMF1, LY9 and CD244 (PubMed:11689425). In SLAM signaling seems to cooperate with SH2D1A/SAP. Plays a role in regulation of effector functions of natural killer (NK) cells by controlling signal transduction through CD244/2B4 without effecting its tyrosine phosphorylation; downstream signaling involves PLCG1 and ERK activation (PubMed:24687958). Activation of SLAMF7-mediated NK cell function does not effect receptor tyrosine phosphorylation but distal signaling (By similarity). In the context of NK cell-mediated cytotoxicity does not enhance conjugate formation with target cells but stimulates polarization of the microtubule-organizing center and cytotoxic granules toward the NK cell synapse (PubMed:24687958). Negatively regulates CD40-induced cytokine production in dendritic cells downstream of SLAM family receptors probably by inducing activation of the PI3K pathway to inhibit p38 MAPK and JNK activation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; When compared with SAP, the other single SH2 domain protein in human, EAT2 shows similar binding energies to unphosphorylated ligands. This is inconsistent to the previous data showing low affinity of EAT2 toward unphosphorylated peptides compared to SAP which shows high affinity, [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": 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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "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": "B2RBN6;Q5T0L1;Q8NI18;Q969K9", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0002717 positive regulation of natural killer cell mediated immunity;GO:0002366 leukocyte activation involved in immune response;GO:0045087 innate immune response;GO:0002250 adaptive immune response;GO:0045089 positive regulation of innate immune response", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "O14796-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60563-1", "uniprot_id": [ { "id": "CCNT1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60563", "type": "external" } ], "mass": 80685.0, "length": 726, "protein_name": "Cyclin-T1", "gene_name": "CCNT1", "organism": "Human", "refseq_name": "cyclin-T1 isoform a", "refseq_ac": [ { "id": "NP_001231", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231", "type": "external" } ], "gene_names_uniprotkb": "CCNT1", "gene_names_refseq": "CCNT1; CCNT; CYCT1; HIVE1", "protein_names_uniprotkb": "Cyclin-T1; CycT1; Cyclin-T", "protein_names_refseq": "CDK9-associated C-type protein; MLLT10/CCNT1 fusion; cyclin C-related protein; cyclin-T1 isoform a; human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:904); (R-HSA-112382); (R-HSA-167152); (R-HSA-167200); (R-HSA-167238); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-176034); (R-HSA-2173796); (R-HSA-674695); (R-HSA-6796648); (R-HSA-6807505); (R-HSA-75955); (R-HSA-9018519)", "pathway_count": 16, "publication_count": 322, "publication_id_list": "10022869;10022900;10199400;10199401;10329125;10329126;10364329;10393184;10500157;10757782;10828826;10866664;10873660;10913173;10984493;11007770;11010967;11013220;11034064;11103799;11136970;11165043;11274402;11313498;11313499;11345900;11350971;11410592;11424093;11427533;11452016;11581164;11682626;11856838;11859374;11884399;11971958;11988847;12065898;12150994;12414730;12446674;12498683;12574128;12612073;12676794;12917425;12944466;12959972;14631847;14657019;14675539;14701750;14701755;14972556;15001666;15100235;15150273;15276198;15282324;15343269;15345050;1535687;15489290;15514030;15781865;15986123;16009131;16046058;16087863;16109376;16109377;16113099;16239144;16278212;1630819;16308568;16319104;16901896;16980581;17013392;17234882;17277772;1739980;17438144;17463000;17495528;17510434;17637753;17643375;17666587;17690249;18079403;18187655;18219272;18256232;1829677;18322535;18358809;18476782;18533032;18568018;18691976;18762174;18805503;19001364;19020303;19098913;19274700;19295514;19321454;19369195;19383337;1939271;19608861;19667075;19718048;19914168;19952111;20068231;20112406;20159561;20219941;20220130;20457598;20498280;20570965;20595680;20682797;21106759;21151129;2125285;21445275;21573489;2181374;21835891;21878914;21934649;21940756;22012619;22056668;22137580;22231121;22252320;22265404;22275377;22441827;22492511;22545144;22704330;22988298;23033978;23145106;23166507;23172872;23186163;23192763;23303788;23403292;23435229;23481700;23538671;23569210;23723241;23906331;23932780;24097444;24167369;24270878;24360279;24371278;2449431;24554720;24662513;24714562;24715725;24735615;24854081;24885040;24973012;24997600;24998469;25296600;25365482;25418920;25429106;25433557;25542856;25561469;25576301;25633194;25645385;25663755;25674852;25675981;25712099;25728767;25880248;25892735;26056233;26153859;26154972;26204489;26375851;26462610;26479350;26659056;26728094;26758079;26811146;26929215;26992070;27062924;27189267;27292648;27397612;27846572;27862975;27886276;27920218;28063628;28228285;28514659;28539435;28649982;28832583;28834231;28904123;2919170;29242379;29331515;29393594;2944599;29493099;29508533;29557506;29632046;29769354;29786170;29849146;30134174;30315122;30410026;30429286;3045126;30524438;31154438;31217245;31373491;31844290;31936902;31998317;32157095;32357974;32387766;32502341;3281094;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34561969;34932366;3498214;35051231;35254053;35318648;35393539;35580925;36010968;36241641;36284347;3677090;37217939;37938771;40596516;7559524;7660122;7660129;7660130;7715707;7853496;7935485;7937828;8195246;8197458;8253082;8339931;8370526;8419924;8628262;8668525;8876171;9009278;9063748;9153304;9188510;9201922;9338790;9356449;9388265;9407024;9450929;9489704;9491887;9499409;9611253;9671459;9705341;9731700;9832504;9832505", "class_list": "", "function": "(Microbial infection) In case of HIV or SIV infections, binds to the transactivation domain of the viral nuclear transcriptional activator, Tat, thereby increasing Tat's affinity for the transactivating response RNA element (TAR RNA). Serves as an essential cofactor for Tat, by promoting RNA Pol II activation, allowing transcription of viral genes., [UniProtKB, PubMed, PubMed]; CYCT1b is a newly identified cyclin T1 splice variant whose expression leads to direct inhibition of TAT-transactivated transcription of the HIV-1 LTR promoter, [RefSeq, PubMed]; Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNA Pol II) (PubMed:16109376, PubMed:16109377, PubMed:30134174, PubMed:35393539). Required to activate the protein kinase activity of CDK9: acts by mediating formation of liquid-liquid phase separation (LLPS) that enhances binding of P-TEFb to the CTD of RNA Pol II (PubMed:29849146, PubMed:35393539)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]., [RefSeq]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A9XU13;E7EX76;O60581", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0019901 protein kinase binding;GO:0000976 transcription cis-regulatory region binding;GO:0070063 RNA polymerase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0008024 cyclin/CDK positive transcription elongation factor complex;GO:0070691 P-TEFb complex", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051301 cell division;GO:0006366 transcription by RNA polymerase II;GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity;GO:0043923 host-mediated activation of viral transcription", "synthesized_glycan_count": 0, "hit_score": 32.7, "record_id": "O60563-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKG1-1", "uniprot_id": [ { "id": "DP13A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKG1", "type": "external" } ], "mass": 79663.0, "length": 709, "protein_name": "DCC-interacting protein 13-alpha", "gene_name": "APPL1", "organism": "Human", "refseq_name": "DCC-interacting protein 13-alpha", "refseq_ac": [ { "id": "NP_036228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036228", "type": "external" } ], "gene_names_uniprotkb": "APPL1; APPL; DIP13A; KIAA1428", "gene_names_refseq": "APPL1; APPL; DIP13alpha; MODY14", "protein_names_uniprotkb": "DCC-interacting protein 13-alpha; Adapter protein containing PH domain, PTB domain and leucine zipper motif 1; Dip13-alpha", "protein_names_refseq": "AKT2 interactor; DCC-interacting protein 13-alpha; adapter protein containing PH domain, PTB domain and leucine zipper motif 1; adaptor protein containing pH domain, PTB domain and leucine zipper motif 1; adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1; dip13-alpha; signaling adaptor protein DIP13alpha", "tax_id": 9606, "disease": "maturity-onset diabetes of the young type 14 (Disease Ontology:DOID:0111111)", "pathway": " (hsa:26060); (R-HSA-418889)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "10490823;11237011;11248093;12011067;15016378;15310786;15573119;16158190;16959974;17030088;17322306;17525332;17765681;18034774;18669648;19413330;19433865;19661063;19664994;19664995;20068231;20133602;21233288;21562756;21645192;21666675;23301498;23481700;24366607;24715725;24879834;25418920;25576301;25645385;26073777;26154972;26583432;26992070;27300007;27600516;27846572;27862975;27920218;28228285;28467828;28514659;28832583;28834231;28860189;28904123;29212031;29242379;29314611;29393594;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30484775;30524438;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34932366;35051231;35154160;35580925;36010968;36215666;36241641;36284347;36846720;37187293;37795615;37938771;38253038;40307207;40914422;9796814", "class_list": "", "function": "APPL1 Is a Prognostic Biomarker and Correlated with Treg Cell Infiltration via Oxygen-Consuming Metabolism in Renal Clear Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Dysfunctional APPL1-Mediated Epigenetic Regulation in Diabetic Vascular Injury. Erratum:[Arterioscler Thromb Vasc Biol. 2024 May;44(5):e171. doi: 10.1161/ATV.0000000000000171. PMID: 38657036], [RefSeq, PubMed]; Identification of a pathway directly linking the small GTPase Rab5, a key regulator of endocytosis, to signal transduction and mitogenesis via APPL1 and APPL2, two Rab5 effectors, [RefSeq, PubMed]; Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:10490823, PubMed:15016378, PubMed:19661063, PubMed:26073777, PubMed:26583432). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Functions as a positive regulator of innate immune response via activation of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Inhibits Fc-gamma receptor-mediated phagocytosis through PI3K/Akt signaling in macrophages (By similarity). Regulates TLR4 signaling in activated macrophages (By similarity). Involved in trafficking of the TGFBR1 from the endosomes to the nucleus via microtubules in a TRAF6-dependent manner (PubMed:26583432). Plays a role in cell metabolism by regulating adiponecting and insulin signaling pathways (PubMed:19661063, PubMed:24879834, PubMed:26073777). Required for fibroblast migration through HGF cell signaling (By similarity). Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex (PubMed:19433865)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Reduced APPL1 impairs osteogenic differentiation of mesenchymal stem cells by facilitating MGP expression to disrupt the BMP2 pathway in osteoporosis., [RefSeq, PubMed]; The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [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, "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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 20, "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": "Q9P2B9", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0044877 protein-containing complex binding;GO:0001786 phosphatidylserine binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0097708 intracellular vesicle;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005768 endosome", "go_biological_process": "GO:0010762 regulation of fibroblast migration;GO:0007165 signal transduction;GO:0046324 regulation of D-glucose import;GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0099558 maintenance of synapse structure", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q9UKG1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07948-1", "uniprot_id": [ { "id": "LYN_HUMAN", "url": "https://www.uniprot.org/uniprot/P07948", "type": "external" } ], "mass": 58574.0, "length": 512, "protein_name": "Tyrosine-protein kinase Lyn", "gene_name": "LYN", "organism": "Human", "refseq_name": "tyrosine-protein kinase Lyn isoform B", "refseq_ac": [ { "id": "NP_001104567", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104567", "type": "external" } ], "gene_names_uniprotkb": "LYN; JTK8", "gene_names_refseq": "JTK8; LYN; SAIDV; p53Lyn; p56Lyn", "protein_names_uniprotkb": "Tyrosine-protein kinase Lyn; 2.7.10.2; Lck/Yes-related novel protein tyrosine kinase; V-yes-1 Yamaguchi sarcoma viral related oncogene homolog; p53Lyn; p56Lyn", "protein_names_refseq": "lck/Yes-related novel protein tyrosine kinase; tyrosine-protein kinase Lyn isoform B; tyrosine-protein kinase Lyn; v-yes-1 Yamaguchi sarcoma viral related oncogene homolog", "tax_id": 9606, "disease": "Parkinsonism (Disease Ontology:DOID:0080855); intestinal cancer (Disease Ontology:DOID:10155); endometriosis (Disease Ontology:DOID:289); Goldenhar syndrome (Disease Ontology:DOID:2907); systemic lupus erythematosus (Disease Ontology:DOID:9074); colorectal cancer (Disease Ontology:DOID:9256); autoinflammatory disease, systemic, with vasculitis (MONDO:MONDO:0957271)", "pathway": " (hsa:4067); (R-HSA-114604); (R-HSA-1433557); (R-HSA-1433559); (R-HSA-202733); (R-HSA-2029481); (R-HSA-210990); (R-HSA-2454202); (R-HSA-2682334); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-389356); (R-HSA-389513); (R-HSA-3928662); (R-HSA-3928663); (R-HSA-3928665); (R-HSA-5621480); (R-HSA-5621575); (R-HSA-5690714); (R-HSA-69231); (R-HSA-75892); (R-HSA-9006335); (R-HSA-9027276); (R-HSA-9027277); (R-HSA-9027283); (R-HSA-9027284); (R-HSA-912631); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9670439); (R-HSA-9674555); (R-HSA-9680350); (R-HSA-9705462); (R-HSA-982772); (R-HSA-983695); (R-HSA-9918476)", "pathway_count": 38, "publication_count": 861, "publication_id_list": 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"class_list": "", "function": "A novel lncRNA associated with the prognosis of patients with colorectal cancer resists apoptosis through the LYN/BCL-2 pathway., [RefSeq, PubMed]; Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Enhanced Lyn Activity Causes Severe, Progressive Emphysema and Lung Cancer., [RefSeq, PubMed]; LYN kinase programs stromal fibroblasts to facilitate leukemic survival via regulation of c-JUN and THBS1. Publication Status: Online-Only, [RefSeq, PubMed]; Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors and plays an important role in the regulation of innate and adaptive immune responses, hematopoiesis, responses to growth factors and cytokines, integrin signaling, but also responses to DNA damage and genotoxic agents. Functions primarily as negative regulator, but can also function as activator, depending on the context. Required for the initiation of the B-cell response, but also for its down-regulation and termination. Plays an important role in the regulation of B-cell differentiation, proliferation, survival and apoptosis, and is important for immune self-tolerance. Acts downstream of several immune receptors, including the B-cell receptor, CD79A, CD79B, CD5, CD19, CD22, FCER1, FCGR2, FCGR1A, TLR2 and TLR4. Plays a role in the inflammatory response to bacterial lipopolysaccharide. Mediates the responses to cytokines and growth factors in hematopoietic progenitors, platelets, erythrocytes, and in mature myeloid cells, such as dendritic cells, neutrophils and eosinophils. Acts downstream of EPOR, KIT, MPL, the chemokine receptor CXCR4, as well as the receptors for IL3, IL5 and CSF2. Plays an important role in integrin signaling. Regulates cell proliferation, survival, differentiation, migration, adhesion, degranulation, and cytokine release. Involved in the regulation of endothelial activation, neutrophil adhesion and transendothelial migration (PubMed:36932076). Down-regulates signaling pathways by phosphorylation of immunoreceptor tyrosine-based inhibitory motifs (ITIM), that then serve as binding sites for phosphatases, such as PTPN6/SHP-1, PTPN11/SHP-2 and INPP5D/SHIP-1, that modulate signaling by dephosphorylation of kinases and their substrates. Phosphorylates LIME1 in response to CD22 activation. Phosphorylates BTK, CBL, CD5, CD19, CD72, CD79A, CD79B, CSF2RB, DOK1, HCLS1, LILRB3/PIR-B, MS4A2/FCER1B, SYK and TEC. Promotes phosphorylation of SIRPA, PTPN6/SHP-1, PTPN11/SHP-2 and INPP5D/SHIP-1. Mediates phosphorylation of the BCR-ABL fusion protein. Required for rapid phosphorylation of FER in response to FCER1 activation. Mediates KIT phosphorylation. Acts as an effector of EPOR (erythropoietin receptor) in controlling KIT expression and may play a role in erythroid differentiation during the switch between proliferation and maturation. Depending on the context, activates or inhibits several signaling cascades. Regulates phosphatidylinositol 3-kinase activity and AKT1 activation. Regulates activation of the MAP kinase signaling cascade, including activation of MAP2K1/MEK1, MAPK1/ERK2, MAPK3/ERK1, MAPK8/JNK1 and MAPK9/JNK2. Mediates activation of STAT5A and/or STAT5B. Phosphorylates LPXN on 'Tyr-72'. Kinase activity facilitates TLR4-TLR6 heterodimerization and signal initiation. Phosphorylates SCIMP on 'Tyr-107'; this enhances binding of SCIMP to TLR4, promoting the phosphorylation of TLR4, and a selective cytokine response to lipopolysaccharide in macrophages (By similarity). Phosphorylates CLNK (By similarity). Phosphorylates BCAR1/CAS and NEDD9/HEF1 (PubMed:9020138)., [UniProtKB, UniProtKB, 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 tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]., [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": 21, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AVQ5", "ec_number_list": [ { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "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", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "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": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" } ], "go_molecular_function": "GO:0043208 glycosphingolipid binding;GO:0005161 platelet-derived growth factor receptor binding;GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0033628 regulation of cell adhesion mediated by integrin;GO:1902532 negative regulation of intracellular signal transduction;GO:0060252 positive regulation of glial cell proliferation;GO:0002431 Fc receptor mediated stimulatory signaling pathway;GO:0002513 tolerance induction to self antigen", "synthesized_glycan_count": 0, "hit_score": 86.2, "record_id": "P07948-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07947-1", "uniprot_id": [ { "id": "YES_HUMAN", "url": "https://www.uniprot.org/uniprot/P07947", "type": "external" } ], "mass": 60801.0, "length": 543, "protein_name": "Tyrosine-protein kinase Yes", "gene_name": "YES1", "organism": "Human", "refseq_name": "tyrosine-protein kinase Yes", "refseq_ac": [ { "id": "NP_005424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005424", "type": "external" } ], "gene_names_uniprotkb": "YES1; YES", "gene_names_refseq": "HsT441; P61-YES; YES1; Yes; c-yes", "protein_names_uniprotkb": "Tyrosine-protein kinase Yes; 2.7.10.2; Proto-oncogene c-Yes; p61-Yes", "protein_names_refseq": "YES1 proto-oncogene, Src family tyrosine kinase; Yamaguchi sarcoma oncogene; cellular yes-1 protein; proto-oncogene c-Yes; proto-oncogene tyrosine-protein kinase YES; tyrosine-protein kinase Yes; v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155); Goldenhar syndrome (Disease Ontology:DOID:2907); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:7525); (R-HSA-1227986); (R-HSA-1433557); (R-HSA-1433559); (R-HSA-2029481); (R-HSA-210990); (R-HSA-2682334); (R-HSA-389356); (R-HSA-389513); (R-HSA-3928662); (R-HSA-3928663); (R-HSA-3928665); (R-HSA-8940973); (R-HSA-912631); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9670439); (R-HSA-9680350)", "pathway_count": 18, "publication_count": 332, "publication_id_list": 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"class_list": "", "function": "Downregulation of circ-YES1 suppresses NSCLC migration and proliferation through the miR-142-3p-HMGB1 axis. Erratum:[Respir Res. 2023 Jul 10;24(1):181. doi: 10.1186/s12931-023-02468-5. PMID: 37424028] Publication Status: Online-Only, [RefSeq, PubMed]; Non-receptor protein tyrosine kinase that is involved in the regulation of cell growth and survival, apoptosis, cell-cell adhesion, cytoskeleton remodeling, and differentiation. Stimulation by receptor tyrosine kinases (RTKs) including EGFR, PDGFR, CSF1R and FGFR leads to recruitment of YES1 to the phosphorylated receptor, and activation and phosphorylation of downstream substrates. Upon EGFR activation, promotes the phosphorylation of PARD3 to favor epithelial tight junction assembly. Participates in the phosphorylation of specific junctional components such as CTNND1 by stimulating the FYN and FER tyrosine kinases at cell-cell contacts. Upon T-cell stimulation by CXCL12, phosphorylates collapsin response mediator protein 2/DPYSL2 and induces T-cell migration. Participates in CD95L/FASLG signaling pathway and mediates AKT-mediated cell migration. Plays a role in cell cycle progression by phosphorylating the cyclin-dependent kinase 4/CDK4 thus regulating the G1 phase. Also involved in G2/M progression and cytokinesis. Catalyzes phosphorylation of organic cation transporter OCT2 which induces its transport activity (PubMed:26979622)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]., [RefSeq]; YES1 Is a Druggable Oncogenic Target in SCLC., [RefSeq, PubMed]; YES1 Kinase Mediates the Membrane Removal of Rescued F508del-CFTR in Airway Cells by Promoting MAPK Pathway Activation via SHC1. 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, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NLB3;D3DUH1", "ec_number_list": [ { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "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", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" } ], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005102 signaling receptor binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005884 actin filament;GO:0005886 plasma membrane", "go_biological_process": "GO:0036211 protein modification process;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0030154 cell differentiation;GO:0048013 ephrin receptor signaling pathway;GO:0031295 T cell costimulation", "synthesized_glycan_count": 0, "hit_score": 34.1, "record_id": "P07947-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43167-1", "uniprot_id": [ { "id": "ZBT24_HUMAN", "url": "https://www.uniprot.org/uniprot/O43167", "type": "external" } ], "mass": 78282.0, "length": 697, "protein_name": "Zinc finger and BTB domain-containing protein 24", "gene_name": "ZBTB24", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 24 isoform 2", "refseq_ac": [ { "id": "NP_001157785", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157785", "type": "external" } ], "gene_names_uniprotkb": "ZBTB24; KIAA0441; ZNF450", "gene_names_refseq": "BIF1; ICF2; PATZ2; ZBTB24; ZNF450", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 24; Zinc finger protein 450", "protein_names_refseq": "POZ (BTB) and AT hook containing zinc finger 2; zinc finger and BTB domain-containing protein 24 isoform 2; zinc finger protein 450", "tax_id": 9606, "disease": "immunodeficiency-centromeric instability-facial anomalies syndrome (Disease Ontology:DOID:0090007); immunodeficiency-centromeric instability-facial anomalies syndrome 2 (Disease Ontology:DOID:0090009)", "pathway": " (hsa:9841)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;21596365;21906047;24714562;25418920;25576301;26375851;26728094;26992070;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29557506;30315122;30779550;31530632;31839203;31844290;32157095;32387766;32488085;32865561;33717175;33968037;33981976;35038951;35051231;36010968;37938771", "class_list": "", "function": "A novel deletion in the ZBTB24 gene was responsible for causing immunodeficiency, centromeric instability and facial anomalies syndrome type 2 in this family., [RefSeq, PubMed]; Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome., [RefSeq, PubMed]; May be involved in BMP2-induced transcription., [UniProtKB, UniProtKB, UniProtKB]; These data indicate that ZBTB24 is involved in DNA methylation of juxtacentromeric DNA and in B cell development and/or B and T cell interactions., [RefSeq, PubMed]; ZBTB24 (Zinc Finger and BTB Domain Containing 24) prevents recurrent spontaneous abortion by promoting trophoblast proliferation, differentiation and migration., [RefSeq, 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, "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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q17RC6;Q5TED5;Q8N455", "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: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", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "O43167-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9D4-1", "uniprot_id": [ { "id": "ZN408_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9D4", "type": "external" } ], "mass": 78439.0, "length": 720, "protein_name": "Zinc finger protein 408", "gene_name": "ZNF408", "organism": "Human", "refseq_name": "zinc finger protein 408 isoform 2", "refseq_ac": [ { "id": "NP_001171680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171680", "type": "external" } ], "gene_names_uniprotkb": "ZNF408; PFM14; PRDM17", "gene_names_refseq": "EVR6; PRDM17; RP72; ZNF408", "protein_names_uniprotkb": "Zinc finger protein 408; PR domain zinc finger protein 17", "protein_names_refseq": "PR domain zinc finger protein 17; PR/SET domain 17; zinc finger protein 408 isoform 2", "tax_id": 9606, "disease": "exudative vitreoretinopathy (Disease Ontology:DOID:0050535); retinitis pigmentosa 72 (Disease Ontology:DOID:0110395); exudative vitreoretinopathy 6 (Disease Ontology:DOID:0111410)", "pathway": " (hsa:79797)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "23186163;23481700;23716654;24275569;25882705;26154972;29982478;30097784;30315122;30410026;33298915;33912179;35051231;35494241;37684015;39302247", "class_list": "", "function": "Genetic and clinical characteristics of ZNF408-related familial exudative vitreoretinopathy., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; P.H455Y ZNF408 has reduced DNA-binding ability, as compared to the wild-type protein. The fact that the p.H455Y mutation disrupts the expression of genes important for the development of vasculature sheds further light on the molecular mechanisms underlying ZNF408-associated familial exudative vitreoretinopathy., [RefSeq, PubMed]; The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]., [RefSeq]; This is the first study to report a group of patients with digenic familial exudative vitreoretinopathy (FEVR). In most affected eyes, the stage was more severe than stage 3. We speculate that the phenotype of FEVR is more severe in patients with digenic rather than monogenic variants of FEVR-related genes., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;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_cellular_component": "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": 2.0, "record_id": "Q9H9D4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKB1-1", "uniprot_id": [ { "id": "FBW1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKB1", "type": "external" } ], "mass": 62091.0, "length": 542, "protein_name": "F-box/WD repeat-containing protein 11", "gene_name": "FBXW11", "organism": "Human", "refseq_name": "F-box/WD repeat-containing protein 11 isoform C", "refseq_ac": [ { "id": "NP_036432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036432", "type": "external" } ], "gene_names_uniprotkb": "FBXW11; BTRCP2; FBW1B; FBXW1B; KIAA0696", "gene_names_refseq": "BTRC2; BTRCP2; FBW1B; FBXW11; FBXW1B; Fbw11; Hos; NEDJED", "protein_names_uniprotkb": "F-box/WD repeat-containing protein 11; F-box and WD repeats protein beta-TrCP2; F-box/WD repeat-containing protein 1B; HOS; Homologous to Slimb protein", "protein_names_refseq": "F-box and WD repeats protein beta-TrCP2; F-box and WD-40 domain protein 11; F-box and WD-40 domain protein 1B; F-box protein Fbw1b; F-box/WD repeat-containing protein 11 isoform C; F-box/WD repeat-containing protein 11; F-box/WD repeat-containing protein 1B; beta-transducin repeat-containing protein 2; homologous to Slimb protein", "tax_id": 9606, "disease": "Menkes disease (Disease Ontology:DOID:1838); neurodevelopmental, jaw, eye, and digital syndrome (MONDO:MONDO:0030057)", "pathway": " (hsa:23291); (R-HSA-1169091); (R-HSA-202424); (R-HSA-2565942); (R-HSA-2871837); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5676590); (R-HSA-5684264); (R-HSA-69601); (R-HSA-8951664); (R-HSA-983168); (R-HSA-9932298)", "pathway_count": 13, "publication_count": 375, "publication_id_list": "10066435;10187770;10230406;10321728;10437795;10514424;10531035;10535940;10593898;10597293;10644755;10648623;10694485;10698680;10702308;10716940;10779524;10811609;10827953;10838074;10878807;10882101;10973499;11053425;11057907;11062501;11069780;11090634;11158290;11237011;11239468;11259415;11262391;11292861;11292862;11298456;11325957;11350924;11358993;11454738;11460167;11520989;11585840;11606584;11733065;11772397;11850814;11884229;11961546;12070292;12101228;12118249;12186903;12207013;12234927;12364337;12399544;12473183;12473184;12482991;12504025;12504026;12526791;12538644;12609982;12646216;12660731;12667451;12676583;12676925;12682069;12759351;12759363;12816948;12832462;12963847;13678582;14514672;14532120;14603323;14673179;14676825;14681206;14690597;14695475;14734113;14757770;15105418;15122200;15125833;15140882;15145317;15169888;15224091;15224092;15282312;15327770;15337770;15340381;15361859;15367669;15371334;15537541;15541657;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15778223;15799966;15845454;15917222;16056267;16171779;16186825;16252004;16301747;16303288;16341139;16356853;16356855;16356856;16401342;16547496;16595681;16612002;16647857;16707496;16790436;16806191;16831874;16849449;16880511;16890155;16943200;16954532;16978534;17047224;17072321;17081101;17132228;17135271;17158449;17183367;17220875;17332328;17363905;17428801;17468049;17496917;17497243;17548359;1756723;17728323;17785452;17948050;18093314;18167338;18206966;18354482;18378770;18462924;18477460;18480045;18521620;18566290;18575781;18615013;18662542;18772140;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19066035;19122653;19250909;19321346;19352404;19359218;19452197;19489725;19617556;19730691;19734889;19748355;19851334;19874575;19909372;19934406;19940261;19966869;20038579;20193029;20300203;20347421;20348946;20449947;20501935;20538596;20685844;21252624;21447816;21463634;21525931;21778237;21863050;21940857;21966355;22017875;22017876;22069318;22265677;22306028;22365832;22466964;22537386;2261476;22641346;22645359;22718757;22798961;22869377;22959436;22988300;23201271;23333871;23401859;23452856;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24074955;24076655;24366543;24636985;24714562;24793695;24793696;25314029;25349211;25355947;25503564;25531226;25576301;25880248;26154972;26344709;26375851;26460955;26632597;26728094;26837067;26906416;26992070;27030794;27222660;27565346;27600516;27846572;27862975;28115426;28832583;28834231;28904123;29153394;29242379;29420262;29437277;29493099;29508533;29557506;29632711;29789417;30315122;30410026;30429286;30610225;30779550;30833945;31154438;31217245;31222486;3129195;31402090;31530632;31844290;31848261;31998317;32005965;32157095;32161166;32265295;32284348;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33298915;33402344;33444648;33537174;33592498;33691108;33717175;33912179;33981976;34087483;34171305;34185709;34211107;34357683;34561969;34932366;35051231;35561310;35580925;36010968;36284347;36404534;36608670;37199076;37938771;38182068;7479848;7479976;7499357;7575604;7612269;7628694;7809113;7831327;7862124;7957109;8387275;8550590;8601309;8670417;8706131;8921937;8972730;9135156;9252186;9315679;9346238;9362451;9380723;9520446;9535861;9668046;9687533;9721103;9742107;9790970;9859996;9887101;9891082;9914500;9950430;9990852;9990853", "class_list": "", "function": "(Microbial infection) Target of human immunodeficiency virus type 1 (HIV-1) protein VPU to polyubiquitinate and deplete BST2 from cells and antagonize its antiviral action., [UniProtKB, PubMed]; Association of FBXW11 levels with tumor development and prognosis in chondrosarcoma., [RefSeq, PubMed]; E3 ubiquitin ligase FBXW11 as a novel inflammatory biomarker is associated with immune infiltration and NF-kappaB pathway activation in pancreatitis and pancreatic cancer., [RefSeq, PubMed]; Expression of FBXW11 in normal and disease-associated osteogenic cells., [RefSeq, PubMed]; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:10437795, PubMed:10648623, PubMed:11158290, PubMed:19966869, PubMed:20347421, PubMed:22017875, PubMed:22017876, PubMed:36608670). Probably recognizes and binds to phosphorylated target proteins: the interaction with substrates requires the phosphorylation of the two serine residues in the substrates' destruction motif D-S-G-X(2,3,4)-S (PubMed:10437795, PubMed:10648623, PubMed:19966869, PubMed:20347421, PubMed:22017875, PubMed:22017876, PubMed:36608670). SCF(FBXW11) mediates the ubiquitination of phosphorylated CTNNB1 and participates in Wnt signaling regulation (PubMed:10321728). SCF(FBXW11) plays a key role in NF-kappa-B activation by mediating ubiquitination of phosphorylated NFKBIA, leading to its degradation by the proteasome, thereby allowing the associated NF-kappa-B complex to translocate into the nucleus and to activate transcription (PubMed:10321728, PubMed:10437795, PubMed:10644755, PubMed:20347421). The SCF(FBXW11) complex also regulates NF-kappa-B by mediating ubiquitination of phosphorylated NFKB1: specifically ubiquitinates the p105 form of NFKB1, leading to its degradation (PubMed:11158290). SCF(FBXW11) mediates the ubiquitination of IFNAR1 (PubMed:14532120, PubMed:15337770). SCF(FBXW11) mediates the ubiquitination of CEP68; this is required for centriole separation during mitosis (PubMed:25503564). Involved in the oxidative stress-induced a ubiquitin-mediated decrease in RCAN1 (PubMed:18575781). Mediates the degradation of CDC25A induced by ionizing radiation in cells progressing through S phase and thus may function in the intra-S-phase checkpoint (PubMed:14603323). Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 and phosphorylated PER2 (PubMed:15917222). SCF(FBXW11) mediates the ubiquitination of CYTH1, and probably CYTH2 (PubMed:29420262). SCF(FBXW11) acts as a regulator of mTORC1 signaling pathway by catalyzing ubiquitination and subsequent proteasomal degradation of phosphorylated DEPTOR, TFE3 and MITF (PubMed:22017875, PubMed:22017876, PubMed:36608670)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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 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 Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [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, "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": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RC98;Q9P2S8;Q9P2S9;Q9Y4C6", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0051010 microtubule plus-end binding;GO:0070840 dynein complex binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0008090 retrograde axonal transport;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045893 positive regulation of DNA-templated transcription;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 37.6, "record_id": "Q9UKB1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXC9-1", "uniprot_id": [ { "id": "BBS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXC9", "type": "external" } ], "mass": 79844.0, "length": 721, "protein_name": "BBSome complex member BBS2", "gene_name": "BBS2", "organism": "Human", "refseq_name": "BBSome complex member BBS2", "refseq_ac": [ { "id": "NP_001364385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001364385", "type": "external" } ], "gene_names_uniprotkb": "BBS2", "gene_names_refseq": "BBS2; BBS; RP74", "protein_names_uniprotkb": "BBSome complex member BBS2; Bardet-Biedl syndrome 2 protein", "protein_names_refseq": "BBSome complex member BBS2; bardet-Biedl syndrome 2 protein", "tax_id": 9606, "disease": "Bardet-Biedl syndrome 2 (Disease Ontology:DOID:0110124); retinitis pigmentosa 74 (Disease Ontology:DOID:0110401); Bardet-Biedl syndrome (Disease Ontology:DOID:1935); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:583); (R-HSA-5620922)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "11237011;11252952;11285252;11567139;12677556;12872256;12920096;15258860;15314642;15666242;15770229;16327777;16823392;17574030;18000879;19081074;19421068;19575670;20080638;20120035;20233871;20603001;21344540;21427764;22072986;22139371;22389062;22500027;23351793;23481700;24296415;25418920;25443296;25446516;25541840;25576301;25892735;26375851;26728094;27600516;27862975;27920218;28218747;28228285;28649982;28657654;28832583;28834231;29242379;29393594;29508533;29632046;29632711;29769354;29786170;30315122;30429286;30524438;30779550;30833945;31154438;31222486;31530632;31848261;32161166;32265295;33144677;36672825;37938771;39175229;39894887", "class_list": "", "function": "Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report., [RefSeq, PubMed]; Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. Publication Status: Online-Only, [RefSeq, PubMed]; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]., [RefSeq]; Unaffected individuals in 2 pedigrees had 2 but not all 3 mutations that affecteds had which suggests that Bardet-Biedle syndrome might not be a single-gene recessive disease but a complex trait requiring three mutant alleles to manifest the phenotype., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "Q96CM0;Q96SN9", "ec_number_list": [], "go_molecular_function": "GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0031514 motile cilium;GO:0043005 neuron projection;GO:0034451 centriolar satellite", "go_biological_process": "GO:0030534 adult behavior;GO:0021766 hippocampus development;GO:0021987 cerebral cortex development;GO:0007601 visual perception;GO:0045494 photoreceptor cell maintenance", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9BXC9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60238-1", "uniprot_id": [ { "id": "BNI3L_HUMAN", "url": "https://www.uniprot.org/uniprot/O60238", "type": "external" } ], "mass": 23930.0, "length": 219, "protein_name": "BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like", "gene_name": "BNIP3L", "organism": "Human", "refseq_name": "BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like isoform 2", "refseq_ac": [ { "id": "NP_001317420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317420", "type": "external" } ], "gene_names_uniprotkb": "BNIP3L; BNIP3A; BNIP3H; NIX", "gene_names_refseq": "BNIP3L; BNIP3a; NIP3L; NIX", "protein_names_uniprotkb": "BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like; Adenovirus E1B19K-binding protein B5; BCL2/adenovirus E1B 19 kDa protein-interacting protein 3A; NIP3-like protein X; NIP3L", "protein_names_refseq": "BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like isoform 2; BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like; BCL2/adenovirus E1B 19 kDa protein-interacting protein 3A; BCL2/adenovirus E1B 19-kd protein-interacting protein 3a; BCL2/adenovirus E1B 19kDa interacting protein 3 like; NIP-3-like protein X; NIP3-like protein X; adenovirus E1B19k-binding protein B5", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); gestational diabetes (Disease Ontology:DOID:11714); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatitis (Disease Ontology:DOID:4989)", "pathway": " (hsa:665); (R-HSA-6803204)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10381623;10807576;11030628;11237011;11511362;11684014;12402042;12606722;12663450;14729977;15126337;15273740;15607964;15735003;17081983;17349958;18617898;18767875;19377469;19651622;20068231;21264228;22334068;22766503;23186163;23365256;23684607;23931759;24275569;24714562;25080938;25418920;25502872;26071602;26929215;26992070;27846572;28411811;28442745;28904123;29393594;29493099;29557506;29632046;31154438;31217245;31324791;31844290;32157095;32265295;32350084;32620611;32897882;32938616;33298915;33592498;33691108;33968037;34357683;34433824;34932366;35051231;35318648;35561310;35580925;36284347;37938771;38519771;38810696;38934722;38992176;7834749;9523198;9867803", "class_list": "", "function": "Association between BCL2 interacting protein 3 like (BNIP3L) genetic polymorphisms and the risk of multiple myeloma in China., [RefSeq, PubMed]; CTCF and BORIS-mediated autophagy regulation via alternative splicing of BNIP3L in breast cancer., [RefSeq, PubMed]; Induces apoptosis. Interacts with viral and cellular anti-apoptosis proteins. Can overcome the suppressors BCL-2 and BCL-XL, although high levels of BCL-XL expression will inhibit apoptosis. Inhibits apoptosis induced by BNIP3. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix. May function as a tumor suppressor., [UniProtKB, PubMed, PubMed]; Mitophagy mediated by BNIP3 and NIX protects against ferroptosis by downregulating mitochondrial reactive oxygen species., [RefSeq, PubMed]; PPTC7 antagonizes mitophagy by promoting BNIP3 and NIX degradation via SCF[FBXL4]., [RefSeq, PubMed]; This gene encodes a protein that belongs to the pro-apoptotic subfamily within the Bcl-2 family of proteins. The encoded protein binds to Bcl-2 and possesses the BH3 domain. The protein directly targets mitochondria and causes apoptotic changes, including loss of membrane potential and the release of cytochrome c. [provided by RefSeq, Feb 2015]., [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": 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": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0AZS9;Q5JW63;Q8NF87", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0005521 lamin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0051607 defense response to virus;GO:0071456 cellular response to hypoxia;GO:0016239 positive regulation of macroautophagy", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "O60238-1", "record_type": "protein", "filter_code": "0001000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78543-1", "uniprot_id": [ { "id": "BTG2_HUMAN", "url": "https://www.uniprot.org/uniprot/P78543", "type": "external" } ], "mass": 17416.0, "length": 158, "protein_name": "Protein BTG2", "gene_name": "BTG2", "organism": "Human", "refseq_name": "protein BTG2", "refseq_ac": [ { "id": "NP_006754", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006754", "type": "external" } ], "gene_names_uniprotkb": "BTG2; PC3", "gene_names_refseq": "APRO1; BTG2; PC3; TIS21", "protein_names_uniprotkb": "Protein BTG2; BTG family member 2; NGF-inducible anti-proliferative protein PC3", "protein_names_refseq": "B-cell translocation gene 2; BTG family member 2; NGF-inducible anti-proliferative protein PC3; nerve growth factor-inducible anti-proliferative; pheochromacytoma cell-3; protein BTG2", "tax_id": 9606, "disease": "acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); breast cancer (Disease Ontology:DOID:1612); brain ischemia (Disease Ontology:DOID:2316); renal cell carcinoma (Disease Ontology:DOID:4450); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:7832); (R-HSA-6804115)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "11136725;11267995;11466336;11814693;11896574;12771185;12897130;14968113;15713436;15788397;16140933;16160013;17146433;18337750;18446792;18773938;18974182;19276069;20352051;20531387;21209280;22252318;22544926;22898188;23236473;23783831;24714562;24715725;25576301;25645385;26154972;26728094;26768311;26992070;27543614;27600516;28063628;28228285;28446606;28514659;28832583;28860189;29242379;29351928;29393594;29493099;29508533;29557506;29632711;29786170;29789417;29930882;30315122;30429286;30524438;30779550;31154438;31222486;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33043033;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33981976;34087483;34171305;34211107;34405274;34509645;35051231;35561310;36215666;36241641;37269593;37894995;38329343;38729325;38831322;8891336;8944033;9184226;9671765;9712883", "class_list": "", "function": "Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex. Activates mRNA deadenylation in a CNOT6 and CNOT7-dependent manner. In vitro can inhibit deadenylase activity of CNOT7 and CNOT8. Involved in cell cycle regulation. Could be involved in the growth arrest and differentiation of the neuronal precursors (By similarity). Modulates transcription regulation mediated by ESR1. Involved in mitochondrial depolarization and neurite outgrowth., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; BTG2 acts as an inducer of muscle stem cell senescence., [RefSeq, PubMed]; Deciphering the molecular nexus of BTG2 in periodontitis and diabetic kidney disease. Publication Status: Online-Only, [RefSeq, PubMed]; First evidence that BTG2 is a target of p53 and is activated p53-dependently by DNA damage., [RefSeq, PubMed]; MiR-103-3p Regulates the Proliferation and Differentiation of C2C12 Myoblasts by Targeting BTG2. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-409-3p/BTG2 signaling axis improves impaired angiogenesis and wound healing in obese mice., [RefSeq, PubMed]; PC3 / BTG2 inhibits the proliferation of different types of cells, including neural cells., [RefSeq, PubMed]; SMC2 knockdown inhibits malignant progression of lung adenocarcinoma by upregulating BTG2 expression., [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 is involved in the regulation of the G1/S transition of the cell cycle. [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, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R986;Q3KR25;Q5VUT0", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0031175 neuron projection development;GO:0043524 negative regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "P78543-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51451-1", "uniprot_id": [ { "id": "BLK_HUMAN", "url": "https://www.uniprot.org/uniprot/P51451", "type": "external" } ], "mass": 57706.0, "length": 505, "protein_name": "Tyrosine-protein kinase Blk", "gene_name": "BLK", "organism": "Human", "refseq_name": "tyrosine-protein kinase Blk isoform 1", "refseq_ac": [ { "id": "NP_001706", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001706", "type": "external" } ], "gene_names_uniprotkb": "BLK", "gene_names_refseq": "BLK; MODY11", "protein_names_uniprotkb": "Tyrosine-protein kinase Blk; 2.7.10.2; B lymphocyte kinase; p55-Blk", "protein_names_refseq": "B lymphoid tyrosine kinase; BLK nonreceptor tyrosine kinase; b lymphocyte kinase; p55-Blk; tyrosine-protein kinase Blk isoform 1; tyrosine-protein kinase Blk", "tax_id": 9606, "disease": "maturity-onset diabetes of the young type 11 (Disease Ontology:DOID:0111109); intestinal cancer (Disease Ontology:DOID:10155); Goldenhar syndrome (Disease Ontology:DOID:2907); systemic lupus erythematosus (Disease Ontology:DOID:9074); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:640); (R-HSA-8939245); (R-HSA-983695)", "pathway_count": 3, "publication_count": 135, "publication_id_list": "10051622;10207087;10432293;10455134;10498607;10553071;10556826;10648173;10706702;10770799;1081164;10880360;10983984;11042164;11071869;11226282;11449366;11606584;11901194;11909947;12023895;12181444;12453414;12456653;12573241;1372019;1374290;1375264;1376928;14970218;15161916;15187135;1550550;15509800;1599430;16849466;16906149;1702903;1705565;17224452;17344846;17452328;17486119;18006696;18025150;18052078;18187424;18326500;18420269;18596693;18818202;18843204;18995841;19206206;19249086;19372136;19667185;2011584;20192804;21408196;21469132;21822214;22180443;22210847;2303036;2304550;23481700;24714562;24715725;25505266;25576301;25892735;26154972;26728094;26992070;27846572;28228285;28904123;29557506;30315122;30356214;31217245;31844290;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33392160;33633747;33691108;33717175;33756160;33912179;33968037;34087483;34357683;34509645;34561969;34637583;3500860;35051231;35108381;35154160;36010968;36241641;36797256;4589993;6335036;7524079;7528218;7538118;7592958;7687428;7687539;7688784;7691807;7822795;7845672;7927516;803528;8083187;8163536;8306975;8756631;8947047;9235916;9326643;9341187;9382888;9697839;9705962", "class_list": "", "function": "B-lymphoid tyrosine kinase-mediated FAM83A phosphorylation elevates pancreatic tumorigenesis through interacting with beta-catenin. Publication Status: Online-Only, [RefSeq, PubMed]; BLK and BANK1 variants and interactions are associated with susceptibility for primary Sjogren's syndrome and with some clinical features., [RefSeq, PubMed]; BLK polymorphisms and expression level in neuromyelitis optica spectrum disorder., [RefSeq, PubMed]; Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY., [RefSeq, PubMed]; Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling (By similarity). B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors (By similarity). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (By similarity). Signaling through BLK plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as the signaling for growth arrest and apoptosis downstream of B-cell receptor (By similarity). Specifically binds and phosphorylates CD79A at 'Tyr-188'and 'Tyr-199', as well as CD79B at 'Tyr-196' and 'Tyr-207' (By similarity). Also phosphorylates the immunoglobulin G receptors FCGR2A, FCGR2B and FCGR2C (PubMed:8756631). With FYN and LYN, plays an essential role in pre-B-cell receptor (pre-BCR)-mediated NF-kappa-B activation (By similarity). Also contributes to BTK activation by indirectly stimulating BTK intramolecular autophosphorylation (By similarity). In pancreatic islets, acts as a modulator of beta-cells function through the up-regulation of PDX1 and NKX6-1 and consequent stimulation of insulin secretion in response to glucose (PubMed:19667185). Phosphorylates CGAS, promoting retention of CGAS in the cytosol (PubMed:30356214)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q16291;Q96IN1", "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", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "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:0005102 signaling receptor binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0018108 peptidyl-tyrosine phosphorylation;GO:0030154 cell differentiation;GO:0032024 positive regulation of insulin secretion;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "P51451-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PQ6-1", "uniprot_id": [ { "id": "ZN317_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PQ6", "type": "external" } ], "mass": 67959.0, "length": 595, "protein_name": "Zinc finger protein 317", "gene_name": "ZNF317", "organism": "Human", "refseq_name": "zinc finger protein 317 isoform 2", "refseq_ac": [ { "id": "NP_001177720", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177720", "type": "external" } ], "gene_names_uniprotkb": "ZNF317; KIAA1588", "gene_names_refseq": "ZNF317", "protein_names_uniprotkb": "Zinc finger protein 317", "protein_names_refseq": "KRAB-containing zinc finger protein 317; zinc finger protein 317 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57693); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10235266;10330177;11237011;11395415;11688974;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;20112406;2028256;2163759;22424782;25274305;25645385;26813693;26992070;27862975;28218747;28273063;28832583;28834231;28904123;29242379;29393594;29557506;30379171;30524438;31154438;31217245;31289231;31427381;31530632;31844290;32357974;32897882;32938616;32983136;33141586;33298915;33392160;33912179;33968037;34211107;34932366;35051231;35580925;37217939;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "May function as a transcription factor. May play an important role in erythroid maturation and lymphoid proliferation., [UniProtKB]; Molecular cloning and characterization of isoforms, [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": 0, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6DCA9;Q96PM0;Q96PM1;Q96PT2;Q9HCI4", "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:0005654 nucleoplasm", "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": 6.4, "record_id": "Q96PQ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24385-1", "uniprot_id": [ { "id": "CCND1_HUMAN", "url": "https://www.uniprot.org/uniprot/P24385", "type": "external" } ], "mass": 33729.0, "length": 295, "protein_name": "G1/S-specific cyclin-D1", "gene_name": "CCND1", "organism": "Human", "refseq_name": "G1/S-specific cyclin-D1", "refseq_ac": [ { "id": "NP_444284", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_444284", "type": "external" } ], "gene_names_uniprotkb": "CCND1; BCL1; PRAD1", "gene_names_refseq": "BCL1; CCND1; D11S287E; PRAD1; U21B31", "protein_names_uniprotkb": "G1/S-specific cyclin-D1; B-cell lymphoma 1 protein; BCL-1 oncogene; BCL-1; PRAD1 oncogene", "protein_names_refseq": "B-cell CLL/lymphoma 1; B-cell lymphoma 1 protein; BCL-1 oncogene; G1/S-specific cyclin-D1; PRAD1 oncogene", "tax_id": 9606, "disease": "mantle cell lymphoma (Disease Ontology:DOID:0050746); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); colon adenoma (Disease Ontology:DOID:0050912); non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); ductal carcinoma in situ (Disease Ontology:DOID:0060074); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); polycystic ovary syndrome (Disease Ontology:DOID:11612); penile benign neoplasm (Disease Ontology:DOID:11624); interstitial cystitis (Disease Ontology:DOID:13949); von Hippel-Lindau disease (Disease Ontology:DOID:14175); squamous cell carcinoma (Disease Ontology:DOID:1749); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); impotence (Disease Ontology:DOID:1875); atherosclerosis (Disease Ontology:DOID:1936); transitional cell carcinoma (Disease Ontology:DOID:2671); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070); invasive lobular carcinoma (Disease Ontology:DOID:3457); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); liver cancer (Disease Ontology:DOID:3571); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); papillary thyroid carcinoma (Disease Ontology:DOID:3969); ovarian carcinoma (Disease Ontology:DOID:4001); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); renal cell carcinoma (Disease Ontology:DOID:4450); bronchiolo-alveolar adenocarcinoma (Disease Ontology:DOID:4926); lung small cell carcinoma (Disease Ontology:DOID:5409); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); pancreatic solid pseudopapillary carcinoma (Disease Ontology:DOID:6827); hepatocellular carcinoma (Disease Ontology:DOID:684); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:595); (R-HSA-187577); (R-HSA-1912408); (R-HSA-3214858); (R-HSA-6785807); (R-HSA-69205); (R-HSA-69231); (R-HSA-75815); (R-HSA-8849470); (R-HSA-8853884); (R-HSA-8878166); (R-HSA-8934593); (R-HSA-8951430); (R-HSA-8951936); (R-HSA-9018519); (R-HSA-9634638); (R-HSA-9661069); (R-HSA-9754119); (R-HSA-9825892); (R-HSA-9929491)", "pathway_count": 20, "publication_count": 620, "publication_id_list": 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"class_list": "", "function": "MAT1A activation of glycolysis to promote NSCLC progression depends on stabilizing CCND1. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory component of the cyclin D1-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:1827756, PubMed:1833066, PubMed:19412162, PubMed:33854235, PubMed:8114739, PubMed:8302605). 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:1827756, PubMed:1833066, PubMed:19412162, PubMed:8114739, PubMed:8302605). Hypophosphorylates RB1 in early G(1) phase (PubMed:1827756, PubMed:1833066, PubMed:19412162, PubMed:8114739, PubMed:8302605). Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals (PubMed:1827756, PubMed:1833066, PubMed:19412162, PubMed:8302605). Also a substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity (PubMed:15241418). Component of the ternary complex, cyclin D1/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex (PubMed:9106657). Exhibits transcriptional corepressor activity with INSM1 on the NEUROD1 and INS promoters in a cell cycle-independent manner (PubMed:16569215, PubMed:18417529)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The Role of Cyclin d1 in Radiotherapy Resistance of Advance Stage Nasopharyngeal Carcinoma: A Systematic Review. Publication Status: Online-Only, [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 throughout 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 CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]., [RefSeq]; [Copy number variations of CCND1 gene and chromosome 11 centromere in acral melanoma]., [RefSeq, PubMed]; [Overexpression of lncRNA FEZF1-AS1 promotes progression of non-small cell lung cancer via the miR-130a-5p/CCND1 axis]., [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": 13, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 40, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6LEF0", "ec_number_list": [], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0019899 enzyme binding;GO:0019901 protein kinase binding;GO:0003714 transcription corepressor activity;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001889 liver development;GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 62.3, "record_id": "P24385-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31323-1", "uniprot_id": [ { "id": "KAP3_HUMAN", "url": "https://www.uniprot.org/uniprot/P31323", "type": "external" } ], "mass": 46302.0, "length": 418, "protein_name": "cAMP-dependent protein kinase type II-beta regulatory subunit", "gene_name": "PRKAR2B", "organism": "Human", "refseq_name": "cAMP-dependent protein kinase type II-beta regulatory subunit", "refseq_ac": [ { "id": "NP_002727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002727", "type": "external" } ], "gene_names_uniprotkb": "PRKAR2B", "gene_names_refseq": "PRKAR2B; PRKAR2; RII-BETA", "protein_names_uniprotkb": "cAMP-dependent protein kinase type II-beta regulatory subunit", "protein_names_refseq": "H_RG363E19.2; WUGSC:H_RG363E19.2; cAMP-dependent protein kinase type II-beta regulatory chain; cAMP-dependent protein kinase type II-beta regulatory subunit; protein kinase, cAMP-dependent, regulatory subunit type II beta; protein kinase, cAMP-dependent, regulatory, type II, beta", "tax_id": 9606, "disease": "granulosa cell tumor (Disease Ontology:DOID:2999)", "pathway": " (hsa:5577); (R-HSA-163615); (R-HSA-164378); (R-HSA-180024); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-381676); (R-HSA-432040); (R-HSA-442720); (R-HSA-5610787); (R-HSA-5620912); (R-HSA-8854518); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-983231); (R-HSA-9856530)", "pathway_count": 20, "publication_count": 379, "publication_id_list": "10075700;10318832;10376603;10496952;10579907;10604473;10639123;10649434;10714768;10764742;10861086;10966113;11034202;11042108;11043579;11062261;11071853;11076968;11076974;11237011;11242053;11375483;11744692;11751636;11773440;11853546;11895428;11950885;11956313;11968001;12032298;12034449;12036966;12065642;12106601;12117970;12134158;12176338;12180908;12192414;12194985;12207013;12221128;12364337;12401793;12410638;12417718;12427746;12435627;12475787;12496249;12724311;12801959;12852856;12860470;12938160;1325798;13678582;13680124;1372004;1373524;14514735;14580337;14592814;14603322;14675202;14701836;14988243;15020713;15087129;1510932;15161916;15187164;15245432;15247287;15304325;1534149;15498487;15539556;15569269;15703994;15705806;15705883;15710388;15718470;15879134;15930098;15955806;15995848;16054028;16061793;16120822;16136078;16229832;16254602;1630448;16311594;16339192;16357211;16396903;16407073;16407156;16462731;16493421;16613843;16613879;16645038;16707575;16780920;16890155;16921024;16973695;17027958;17027967;17095603;17156409;17178220;17196961;17200122;17306374;17379646;17442700;17444618;17535922;17553904;17574030;17641202;17646400;17719545;17762891;17900700;17960137;18037885;18070890;18202100;18202181;18287102;18318008;18327258;18378770;18412318;18455992;18477460;18511455;18521620;18566127;18566290;18577758;18615013;18678926;18694559;18710921;18801063;18818202;18832070;19000668;19004860;19020623;19081074;19144687;19170255;19196978;19223390;19286674;19293402;19342448;19365551;19383790;19413330;19549984;19574955;19592253;19651622;19664994;19664995;19666503;19690332;19723632;19741198;19767740;19776033;19859570;19861722;19877275;19906846;19931550;19940019;19948480;19996169;20067783;20154143;20166139;20207148;20230748;20308558;20395968;20399632;20412786;20460306;20530532;20558667;20627800;20844016;20889716;20956384;21037092;2105456;21209331;21273506;21347367;21406692;21422230;21423175;21548880;21565611;21620453;21695114;21725307;21792235;21801010;21844907;218813;22007132;22094468;22179047;22231273;22365832;22391300;22433857;22495674;22641346;22653444;23141531;23141541;23186163;23209152;23253480;23332756;23348840;23400999;23530209;23675550;23719536;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24273487;24302888;24339784;24469809;24530924;24845016;24863049;24917297;24925320;24952464;24962572;24982133;25047611;25313408;25532896;2553705;25920809;26154972;26190834;26308095;26845023;26987903;27392633;27566546;27797339;27862975;28450397;2851102;28595943;28832583;28904123;29493099;29557506;29632711;29789417;2991279;30315122;30410026;30429286;3049610;3104109;31205027;3127824;32157095;32296767;32350084;32938616;32983136;33025691;33058759;33402344;33592498;33608270;3409321;34357683;34499618;35251023;35580925;37938771;4065330;6087160;6296685;6330098;6501302;7479855;7503232;7510718;7517665;7522622;7526388;7530449;7535000;7538665;7568118;7589461;7651538;7678419;7769006;7790358;7876172;8007951;8063828;8138058;8140421;8226994;8340414;8404634;8405712;8516283;8522976;8527267;8598224;8621513;8657103;8662638;8663227;8683474;8700127;8702633;8816476;8830891;8838651;8855281;8862523;9000504;9042338;9050880;9065479;9099992;9162098;9227644;9230307;9314552;9326583;9331217;9369468;9371714;9374639;9374640;9417641;9422515;9488697;9620797;9651336;9756892;9829975;9857068;9920805;9927674", "class_list": "", "function": "PRKAR2B-HIF-1alpha loop promotes aerobic glycolysis and tumour growth in prostate cancer., [RefSeq, PubMed]; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase., [UniProtKB, UniProtKB, UniProtKB]; cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]., [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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D0R9", "ec_number_list": [], "go_molecular_function": "GO:0034236 protein kinase A catalytic subunit binding;GO:0019904 protein domain specific binding;GO:0004862 cAMP-dependent protein kinase inhibitor activity;GO:0008603 cAMP-dependent protein kinase regulator activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0034199 activation of protein kinase A activity;GO:0035556 intracellular signal transduction;GO:0071377 cellular response to glucagon stimulus", "synthesized_glycan_count": 0, "hit_score": 38.0, "record_id": "P31323-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYR8-1", "uniprot_id": [ { "id": "KRA31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYR8", "type": "external" } ], "mass": 10539.0, "length": 98, "protein_name": "Keratin-associated protein 3-1", "gene_name": "KRTAP3-1", "organism": "Human", "refseq_name": "keratin-associated protein 3-1", "refseq_ac": [ { "id": "NP_114164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114164", "type": "external" } ], "gene_names_uniprotkb": "KRTAP3-1; KAP3.1; KRTAP3.1", "gene_names_refseq": "KAP3.1; KRTAP3-1; KRTAP3.1", "protein_names_uniprotkb": "Keratin-associated protein 3-1; High sulfur keratin-associated protein 3.1; Keratin-associated protein 3.1", "protein_names_refseq": "high sulfur keratin-associated protein 3.1; keratin-associated protein 3-1; keratin-associated protein 3.1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83896); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "11279113;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]; This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]., [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": 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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q14DM4", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9BYR8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20794-1", "uniprot_id": [ { "id": "MAK_HUMAN", "url": "https://www.uniprot.org/uniprot/P20794", "type": "external" } ], "mass": 70581.0, "length": 623, "protein_name": "Serine/threonine-protein kinase MAK", "gene_name": "MAK", "organism": "Human", "refseq_name": "serine/threonine-protein kinase MAK isoform 2", "refseq_ac": [ { "id": "NP_001229314", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229314", "type": "external" } ], "gene_names_uniprotkb": "MAK", "gene_names_refseq": "MAK; RP62", "protein_names_uniprotkb": "Serine/threonine-protein kinase MAK; 2.7.11.1; Male germ cell-associated kinase", "protein_names_refseq": "serine/threonine protein kinase MAK; serine/threonine-protein kinase MAK isoform 2; testicular secretory protein Li 28", "tax_id": 9606, "disease": "retinitis pigmentosa 62 (Disease Ontology:DOID:0110380)", "pathway": " (hsa:4117)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;12084720;16951154;17344846;20068231;21697133;21825139;2183027;21835304;21986944;26894652;26992070;27862975;29242379;29276052;29781741;31154438;31222486;32157095;34932366;35051231;36215666", "class_list": "", "function": "Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells., [UniProtKB, PubMed, PubMed, PubMed]; Identification and transcriptional activation by androgen in prostate cancer cells, [RefSeq, PubMed]; The clinical data show that in general, patients with biallelic MAK mutations had a later age of onset and a milder retinal phenotype compared with patients with biallelic DHDDS mutations. Erratum:[Ophthalmology. 2020 Jan;127(1):139. doi: 10.1016/j.ophtha.2019.10.024. PMID: 31864473], [RefSeq, PubMed]; The natural history of this individual's retinitis pigmentosa (RP) is consistent with previously described MAK mutations, being significantly milder than that associated with other photoreceptor ciliopathies. We suggest inclusion of MAK as part of wider genetic testing in all individuals presenting with RP., [RefSeq, PubMed]; The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]; We report the first case of leaking intraretinal cystoid spaces due to mutation in MAK. Mak regulates microtubule stability via phosphorylating RP1. Abnormal Mak may impact retinal photoreceptor ciliary length and subcompartmentalization., [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": 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": 5, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 5, "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": "F1T0K6;G1FL29;Q547D0;Q9NUH7", "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", "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.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "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": "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": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P20794-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C026-1", "uniprot_id": [ { "id": "TRIM9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C026", "type": "external" } ], "mass": 79177.0, "length": 710, "protein_name": "E3 ubiquitin-protein ligase TRIM9", "gene_name": "TRIM9", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM9 isoform 1", "refseq_ac": [ { "id": "NP_055978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055978", "type": "external" } ], "gene_names_uniprotkb": "TRIM9; KIAA0282; RNF91", "gene_names_refseq": "RNF91; SPRING; TRIM9", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM9; 2.3.2.27; RING finger protein 91; RING-type E3 ubiquitin transferase TRIM9; Tripartite motif-containing protein 9", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM9 isoform 1; E3 ubiquitin-protein ligase TRIM9; RING finger protein 91; RING-type E3 ubiquitin transferase TRIM9; SNAP-25-interacting RING finger protein; homolog of rat RING finger Spring; tripartite motif-containing protein 9", "tax_id": 9606, "disease": "Opitz GBBB syndrome (Disease Ontology:DOID:0080697)", "pathway": " (hsa:114088); (R-HSA-983168)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11062501;11237011;11331580;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20085810;2261476;23475216;24715725;28904123;29393594;29557506;29669288;30315122;30833945;31154438;31844290;33981976;36889762;37124931;37548386;9179496;9380723;9668046", "class_list": "", "function": "A new SPRING in lipid metabolism. Review article, [RefSeq, PubMed]; E3 ubiquitin-protein ligase which ubiquitinates itself in cooperation with an E2 enzyme UBE2D2/UBC4 and serves as a targeting signal for proteasomal degradation. May play a role in regulation of neuronal functions and may also participate in the formation or breakdown of abnormal inclusions in neurodegenerative disorders. May act as a regulator of synaptic vesicle exocytosis by controlling the availability of SNAP25 for the SNARE complex formation., [UniProtKB, PubMed]; TRIM9 Interacts with ZEB1 to Suppress Esophageal Cancer by Promoting ZEB1 Protein Degradation via the UPP Pathway. Erratum:[Biomed Res Int. 2025 Oct 21;2025:9847531. doi: 10.1155/bmri/9847531. PMID: 41146861] Publication Status: Online-Only, [RefSeq, PubMed]; Targeting TRIM9 by miR-218-5p Restricts Cell Proliferation and Epithelial-Mesenchymal Transition in Non-Small Cell Lung Cancer., [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 protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; These results suggest that TRIM9 plays an important role in the regulation of neuronal functions and participates in pathological process of Lewy body disease through its ligase activity., [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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "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": "D3DSB7;D3DSB8;Q92557;Q96D24;Q96NI4;Q9C025;Q9C027", "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:0019904 protein domain specific binding;GO:0042803 protein homodimerization activity;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0030425 dendrite;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9C026-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75909-3", "uniprot_id": [ { "id": "CCNK_HUMAN", "url": "https://www.uniprot.org/uniprot/O75909", "type": "external" } ], "mass": 64240.0, "length": 580, "protein_name": "Cyclin-K", "gene_name": "CCNK", "organism": "Human", "refseq_name": "cyclin-K", "refseq_ac": [ { "id": "NP_001092872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092872", "type": "external" } ], "gene_names_uniprotkb": "CCNK; CPR4", "gene_names_refseq": "CCNK; CPR4; IDDHDF", "protein_names_uniprotkb": "Cyclin-K", "protein_names_refseq": "cyclin-K", "tax_id": 9606, "disease": "intellectual developmental disorder with hypertelorism and distinctive facies (MONDO:MONDO:0029143)", "pathway": " (hsa:8812); (R-HSA-112382); (R-HSA-167152); (R-HSA-167287); (R-HSA-167290); (R-HSA-2173796); (R-HSA-674695); (R-HSA-6796648); (R-HSA-6807505); (R-HSA-75955)", "pathway_count": 10, "publication_count": 160, "publication_id_list": "10022869;10022900;10199400;10199401;10574912;10866664;10984493;11007770;11013220;11274402;11313498;11313499;11350971;11424093;11427533;11856838;11859374;11884399;11971958;11988847;12150994;12414730;12446674;12574128;12676794;12917425;14657019;14701755;15100235;15150273;15302935;1535687;15489290;15781865;16239144;16278212;16308568;16319104;16901896;17081983;17169370;17234882;1739980;17438144;17924679;18079403;18212344;1829677;18452278;18568018;18669648;18691976;18767875;19369195;1939271;19651622;19664995;19667075;19914168;19952111;20068231;20159561;20166139;20305658;20457598;20595680;2125285;21406692;22012619;22137580;22231121;22252320;22275377;22441827;22988298;23166507;23186163;23538671;23932780;24097444;24270878;2449431;24554720;24662513;24715725;24997600;25418920;25429106;25561469;25576301;25675981;25712099;25880248;26659056;26929215;26992070;27846572;27920218;28218747;28510447;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29437277;2944599;29493099;29632046;30122539;30315122;30379171;31154438;31844290;31936902;32157095;32161166;32357974;32387766;32938616;33214551;33298915;33392160;33717175;33912179;33968037;33981976;34019948;34289372;34380030;34846842;35051231;35580925;36129942;37217939;37597256;39534244;40596516;7660122;7660129;7660130;7715707;7853496;8253082;8339931;8370526;8628262;8668525;9009278;9063748;9153304;9188510;9407024;9450929;9489704;9632813;9705341;9832505", "class_list": "", "function": "CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related Syndrome., [RefSeq, PubMed]; CYCLIN K down-regulation induces androgen receptor gene intronic polyadenylation, variant expression and PARP inhibitor vulnerability in castration-resistant prostate cancer., [RefSeq, PubMed]; Cyclin K may play a role in regulating the cell cycle or apoptosis, [RefSeq, PubMed]; Degradation of CCNK/CDK12 is a druggable vulnerability of colorectal cancer., [RefSeq, PubMed]; HIV-1 Nef interacts with the cyclin K/CDK13 complex to antagonize SERINC5 for optimal viral infectivity., [RefSeq, PubMed]; P-TEFb containing cyclin K and Cdk9 can activate transcription via RNA., [RefSeq, PubMed]; Regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases. Plays a role in transcriptional regulation via its role in regulating the phosphorylation of the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q59FT6;Q86U16;Q96B63;Q9NNY9", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0008353 RNA polymerase II CTD heptapeptide repeat kinase activity;GO:0061575 cyclin-dependent protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0002944 cyclin K-CDK12 complex;GO:0002945 cyclin K-CDK13 complex;GO:0008024 cyclin/CDK positive transcription elongation factor complex", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051301 cell division;GO:0006974 DNA damage response;GO:0006366 transcription by RNA polymerase II;GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "O75909-3", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75593-1", "uniprot_id": [ { "id": "FOXH1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75593", "type": "external" } ], "mass": 39257.0, "length": 365, "protein_name": "Forkhead box protein H1", "gene_name": "FOXH1", "organism": "Human", "refseq_name": "forkhead box protein H1", "refseq_ac": [ { "id": "NP_003914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003914", "type": "external" } ], "gene_names_uniprotkb": "FOXH1; FAST1; FAST2", "gene_names_refseq": "FAST-1; FAST1; FOXH1", "protein_names_uniprotkb": "Forkhead box protein H1; Fast-1; Fast-2; Forkhead activin signal transducer 1; Forkhead activin signal transducer 2; hFAST-1", "protein_names_refseq": "TGF-beta/activin signal transducer; fast-2; forkhead activin signal transducer 2; forkhead activin signal transducer-1; forkhead box protein H1; hFAST-1", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); agnathia-otocephaly complex (Disease Ontology:DOID:0060341)", "pathway": " (hsa:8928); (R-HSA-1181150); (R-HSA-1502540); (R-HSA-9754189); (R-HSA-9796292)", "pathway_count": 5, "publication_count": 64, "publication_id_list": "10441331;10473623;10822381;10934479;11024047;11117535;11294908;11389842;11485994;11779503;11779505;12063393;12592392;14978253;15087470;15110706;15123686;15150278;15350224;15485907;15531507;16140969;16260601;17068183;17272273;17906079;18042803;18166170;18452278;18550259;18729794;18951876;19114992;20694664;21245162;21356369;21383881;21532621;21741376;23481700;25693565;25921273;25936800;29234012;31840817;31844290;32003456;32448362;33968037;34633764;35255005;36435807;37217939;8196624;8622651;8721982;8878477;9032295;9288972;9311995;9417125;9459292;9670020;9702198", "class_list": "", "function": "A comprehensive analysis of FOX family in HCC and experimental evidence to support the oncogenic role of FOXH1., [RefSeq, PubMed]; FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided by RefSeq, Jul 2008]., [RefSeq]; Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect., [RefSeq, PubMed]; Large-scale whole-exome sequencing association study identifies FOXH1 gene and sphingolipid metabolism pathway influencing major depressive disorder., [RefSeq, PubMed]; Molecular basis for DNA recognition by the maternal pioneer transcription factor FoxH1. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element)., [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, "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": 1, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DWM4", "ec_number_list": [], "go_molecular_function": "GO:0070410 co-SMAD binding;GO:0019904 protein domain specific binding;GO:0003714 transcription corepressor activity;GO:0046332 SMAD binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin;GO:0032444 activin responsive factor complex", "go_biological_process": "GO:0003140 determination of left/right asymmetry in lateral mesoderm;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007179 transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "O75593-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NEM1-1", "uniprot_id": [ { "id": "GG6L9_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NEM1", "type": "external" } ], "mass": 49193.0, "length": 432, "protein_name": "Golgin subfamily A member 6-like protein 9", "gene_name": "GOLGA6L9", "organism": "Human", "refseq_name": "golgin subfamily A member 6-like protein 9 isoform 2", "refseq_ac": [ { "id": "NP_001278349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278349", "type": "external" } ], "gene_names_uniprotkb": "GOLGA6L9; GOLGA6L20", "gene_names_refseq": "GOLGA6L20; GOLGA6L9", "protein_names_uniprotkb": "Golgin subfamily A member 6-like protein 9", "protein_names_refseq": "golgi autoantigen, golgin subfamily a, 6-like 9; golgin A6 family-like 20; golgin subfamily A member 6-like protein 9 isoform 2; golgin subfamily A member 6-like protein 9; putative golgin subfamily A member 6-like protein 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:440295)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "29557506;35051231", "class_list": "", "function": "", "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": 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": "A0A087WXJ1;A6NFL8;H0YK89;Q8IVV3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NEM1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYV2-1", "uniprot_id": [ { "id": "TRI54_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYV2", "type": "external" } ], "mass": 40301.0, "length": 358, "protein_name": "Tripartite motif-containing protein 54", "gene_name": "TRIM54", "organism": "Human", "refseq_name": "tripartite motif-containing protein 54 isoform 1", "refseq_ac": [ { "id": "NP_115935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115935", "type": "external" } ], "gene_names_uniprotkb": "TRIM54; MURF3; MURF; RNF30", "gene_names_refseq": "MURF-3; MURF; RNF30; TRIM54; muRF3", "protein_names_uniprotkb": "Tripartite motif-containing protein 54; MuRF-3; MuRF3; MuRF; Muscle-specific RING finger protein 3; Muscle-specific RING finger protein; RING finger protein 30", "protein_names_refseq": "muscle-specific RING finger protein 3; ring finger protein 30; tripartite motif-containing protein 54 isoform 1; tripartite motif-containing protein 54", "tax_id": 9606, "disease": "", "pathway": " (hsa:57159)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10953002;11243782;25801283;29393594;29557506;32938616;35580925;37695069", "class_list": "", "function": "A novel protein aggregate myopathies and cardiomyopathy resulting from combined homozygous MuRF1 null mutation and heterozygous MuRF3 missense mutation. Erratum:[Hum Mol Genet. 2015 Nov 1;24(21):6264. doi: 10.1093/hmg/ddv311. PMID: 26345447], [RefSeq, PubMed]; Functional analysis of the mouse counterpart., [RefSeq, PubMed]; May bind and stabilize microtubules during myotubes formation., [UniProtKB]; Sorafenib induces ferroptosis by promoting TRIM54-mediated FSP1 ubiquitination and degradation in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [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, "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": 5, "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": "A5D8T7;Q53SY4;Q9BYV3", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005875 microtubule associated complex;GO:0030018 Z disc", "go_biological_process": "GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0045087 innate immune response;GO:0007026 negative regulation of microtubule depolymerization;GO:0007017 microtubule-based process", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9BYV2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16885-1", "uniprot_id": [ { "id": "PLCG2_HUMAN", "url": "https://www.uniprot.org/uniprot/P16885", "type": "external" } ], "mass": 147870.0, "length": 1265, "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2", "gene_name": "PLCG2", "organism": "Human", "refseq_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2", "refseq_ac": [ { "id": "NP_002652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002652", "type": "external" } ], "gene_names_uniprotkb": "PLCG2", "gene_names_refseq": "APLAID; FCAS3; PLC-IV; PLC-gamma-2; PLCG2", "protein_names_uniprotkb": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2; 3.1.4.11; PLC-IV; PLC-gamma-2; Phosphoinositide phospholipase C-gamma-2; Phospholipase C-IV; Phospholipase C-gamma-2", "protein_names_refseq": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2; phosphoinositide phospholipase C-gamma-2; phospholipase C, gamma 2 (phosphatidylinositol-specific); phospholipase C-IV", "tax_id": 9606, "disease": "autoinflammation, antibody deficiency, and immune dysregulation syndrome (Disease Ontology:DOID:0070615); familial cold autoinflammatory syndrome 3 (Disease Ontology:DOID:0090064)", "pathway": " (hsa:5336); (R-HSA-114604); (R-HSA-166016); (R-HSA-1855204); (R-HSA-202433); (R-HSA-2029485); (R-HSA-2424491); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-5607764); (R-HSA-5621480); (R-HSA-9027277); (R-HSA-9664323); (R-HSA-9679191); (R-HSA-9680350); (R-HSA-983695)", "pathway_count": 16, "publication_count": 474, "publication_id_list": 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"class_list": "", "function": "Golgi retention and oncogenic KIT signaling via PLCgamma2-PKD2-PI4KIIIbeta activation in gastrointestinal stromal tumor cells., [RefSeq, PubMed]; Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency., [RefSeq, PubMed]; Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades., [UniProtKB, UniProtKB, UniProtKB]; PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants., [RefSeq, PubMed]; The hypermorphic PLCgamma2 S707Y variant dysregulates microglial cell function - Insight into PLCgamma2 activation in brain health and disease, and opportunities for therapeutic modulation., [RefSeq, PubMed]; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 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": 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": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "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": "D3DUL3;Q3ZTS2;Q59H45;Q969T5", "ec_number_list": [ { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" } ], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0019901 protein kinase binding;GO:0004629 phospholipase C activity;GO:0097110 scaffold protein binding", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0032747 positive regulation of interleukin-23 production;GO:0070884 regulation of calcineurin-NFAT signaling cascade;GO:0001878 response to yeast;GO:0010628 positive regulation of gene expression;GO:0019722 calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 47.7, "record_id": "P16885-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12840-1", "uniprot_id": [ { "id": "KIF5A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12840", "type": "external" } ], "mass": 117378.0, "length": 1032, "protein_name": "Kinesin heavy chain isoform 5A", "gene_name": "KIF5A", "organism": "Human", "refseq_name": "kinesin heavy chain isoform 5A isoform 1", "refseq_ac": [ { "id": "NP_004975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004975", "type": "external" } ], "gene_names_uniprotkb": "KIF5A; NKHC1", "gene_names_refseq": "ALS25; D12S1889; KIF5A; MY050; NEIMY; NKHC; SPG10", "protein_names_uniprotkb": "Kinesin heavy chain isoform 5A; 5.6.1.3; Kinesin heavy chain neuron-specific 1; NKHC; Neuronal kinesin heavy chain", "protein_names_refseq": "KIF5A variant protein; kinesin heavy chain isoform 5A isoform 1; kinesin heavy chain neuron-specific 1; kinesin, heavy chain, neuron-specific; neuron-specific kinesin heavy chain; neuronal kinesin heavy chain", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 25 (Disease Ontology:DOID:0081379); hereditary spastic paraplegia 10 (Disease Ontology:DOID:0110763); prostate cancer (Disease Ontology:DOID:10283); spinal muscular atrophy (Disease Ontology:DOID:12377); neurodegenerative disease (Disease Ontology:DOID:1289); motor neuron disease (Disease Ontology:DOID:231); multiple sclerosis (Disease Ontology:DOID:2377); hereditary spastic paraplegia (Disease Ontology:DOID:2476); rheumatoid arthritis (Disease Ontology:DOID:7148); asbestos-related lung carcinoma (Disease Ontology:DOID:7596); myoclonus, intractable, neonatal (MONDO:MONDO:0014979)", "pathway": " (hsa:3798); (R-HSA-2132295); (R-HSA-264876); (R-HSA-5625970); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 6, "publication_count": 242, "publication_id_list": "10036229;10052452;10064083;10072072;10318838;10445031;10480952;10521251;10540230;10559959;10593899;10631941;10631952;10639150;10748235;10761932;10809954;10913441;10921873;11172815;11237011;11462236;11493604;11493706;11529500;11684289;11689559;11689693;11703931;11707400;11726511;11739780;11748249;11782313;11790530;11813165;11853874;11904301;11933159;12047556;12070132;12078484;12198549;12355402;12368902;12742663;12748383;1406973;14504276;14617756;14654841;14704853;14731593;15029241;15037235;15272311;1528899;15326200;15331542;15452312;15616190;15632110;15749704;15813748;15878854;15911768;16030262;1607388;16158220;16158222;16181339;16242130;16262723;1631136;16407158;16476820;16489470;16571679;16618111;16633337;16714477;1680566;16824007;16912714;16926190;16940185;16984975;17113389;17142755;17253781;17283181;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18046453;18182008;18203753;18245137;18287528;18292509;18342609;18524849;18809720;18853458;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1956401;19564404;1957170;19631211;19758564;20005805;20136777;20308425;20357002;20386726;20427317;20462495;20534429;20637885;21091435;21107874;21116285;21145486;2121367;21219331;21308844;2142332;21441454;21550981;21689688;21713314;21844168;2190094;22013193;22094269;22304919;23396477;2391366;24215330;24715725;25091901;2521221;2522352;25364732;25436559;25492864;25898167;2669954;27414745;27463701;2822027;29342275;29493099;29557506;29566793;30192525;31154438;31184304;3130248;3134048;31844290;32387766;32502341;32723473;32938616;33485965;33537174;33592498;35051231;38309508;38927616;3896518;39333504;7481823;7514426;7528108;7539720;7592972;7626024;7650016;7667286;7787244;7822426;7844144;7929562;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8548803;8599929;8602245;8620540;8642258;8687433;8769096;8849454;8909537;8912005;8916141;8939989;8947036;9075930;9114004;9166668;9177194;9202021;9207799;9244307;9288971;9311912;9312039;9405360;9497313;9539769;9545226;9606180;9631292;9751720;9822636;9990005", "class_list": "", "function": "A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A., [RefSeq, PubMed]; Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]., [RefSeq]; Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis. Publication Status: Online-Only, [RefSeq, 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, "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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 11, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6H8M5;Q4LE26", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "5.6.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.3", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0019894 kinesin binding;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0016020 membrane;GO:0035253 ciliary rootlet", "go_biological_process": "GO:0099641 anterograde axonal protein transport;GO:0007268 chemical synaptic transmission;GO:0016192 vesicle-mediated transport;GO:0007018 microtubule-based movement;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 24.3, "record_id": "Q12840-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49639-1", "uniprot_id": [ { "id": "HXA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P49639", "type": "external" } ], "mass": 36660.0, "length": 335, "protein_name": "Homeobox protein Hox-A1", "gene_name": "HOXA1", "organism": "Human", "refseq_name": "homeobox protein Hox-A1 isoform a", "refseq_ac": [ { "id": "NP_005513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005513", "type": "external" } ], "gene_names_uniprotkb": "HOXA1; HOX1F", "gene_names_refseq": "BSAS; HOX1F; HOX1; HOXA1", "protein_names_uniprotkb": "Homeobox protein Hox-A1; Homeobox protein Hox-1F", "protein_names_refseq": "HOX A1 homeodomain protein; Hox 1.6-like protein; homeo box A1; homeobox 1F; homeobox protein HOX-A1; homeobox protein Hox-1F; homeobox protein Hox-A1 isoform a; lab-like protein", "tax_id": 9606, "disease": "Athabaskan brainstem dysgenesis syndrome (Disease Ontology:DOID:0050682); autism spectrum disorder (Disease Ontology:DOID:0060041); autistic disorder (Disease Ontology:DOID:12849)", "pathway": " (hsa:3198); (R-HSA-5617472)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10777502;11091361;11237011;15867264;16079151;16155570;16549775;17185360;17428788;1756725;17660710;17713478;17761849;17851529;18781158;19115252;19232136;19664994;19747919;1975088;19782034;19854132;20085832;22569366;22705304;22879880;23219899;23481700;23534758;23630040;24174538;24312487;24586203;25101834;25135475;2570724;25913784;29393594;36729977;37286120;37923054;37952572;38477942;7488013;7501971;7622051;7831296;7906964;7908827;8674428;8759021;9191052;9218805;9272954;9463349;9482740", "class_list": "", "function": "A poly-histidine motif of HOXA1 is involved in regulatory interactions with cysteine-rich proteins., [RefSeq, PubMed]; Circ_0058063 regulates the development of esophageal cancer through miR-377-3p/HOXA1 axis., [RefSeq, PubMed]; Downregulation of homeobox A1 in human granulosa cells is involved in diminished ovarian reserve through promoting cell apoptosis and mitochondrial dysfunction., [RefSeq, PubMed]; HOXA1 promotes aerobic glycolysis and cancer progression in cervical cancer., [RefSeq, PubMed]; HOXA1 silencing inhibits cisplatin resistance of oral squamous cell carcinoma cells via IkappaB/NF-kappaB signaling pathway., [RefSeq, PubMed]; In mice, establishing Hoxb1 in rhombomere 4 is dependent on the early activation of Hoxa1 and Hoxb1 and that together both are essential for patterning the r4 territory., [RefSeq, PubMed]; In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008]., [RefSeq]; Sequence-specific transcription factor (By similarity). Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior (PubMed:16155570). Also part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments (By similarity). Activates transcription in the presence of PBX1A and PKNOX1 (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "A0A2R8Y4R9;A4D184;B2R8U7;O43363", "ec_number_list": [], "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:0043565 sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "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:0045944 positive regulation of transcription by RNA polymerase II;GO:0050890 cognition;GO:0050905 neuromuscular process", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "P49639-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969L2-1", "uniprot_id": [ { "id": "MAL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969L2", "type": "external" } ], "mass": 19125.0, "length": 176, "protein_name": "Protein MAL2", "gene_name": "MAL2", "organism": "Human", "refseq_name": "protein MAL2", "refseq_ac": [ { "id": "NP_443118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443118", "type": "external" } ], "gene_names_uniprotkb": "MAL2", "gene_names_refseq": "MAL2", "protein_names_uniprotkb": "Protein MAL2", "protein_names_refseq": "MAL proteolipid protein 2; MAL2 proteolipid protein; myelin and lymphocyte protein 2; protein MAL2", "tax_id": 9606, "disease": "", "pathway": " (hsa:114569)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;11549320;12370246;14576188;19159218;29557506;30779550;31154438;32990678;33537174;33780861;35033901;36938678", "class_list": "", "function": "Data show that MAL2 is essential for transcytosis in HepG2 cells., [RefSeq, PubMed]; LINC00460 Facilitates Cell Proliferation and Inhibits Ferroptosis in Breast Cancer Through the miR-320a/MAL2 Axis., [RefSeq, PubMed]; MAL2 drives immune evasion in breast cancer by suppressing tumor antigen presentation., [RefSeq, PubMed]; MAL2 interacts with IQGAP1 to promote pancreatic cancer progression by increasing ERK1/2 phosphorylation., [RefSeq, PubMed]; MAL2 protein mRNA species were detected in the thyroid and immunohistochemical analysis of thyroid follicles indicated that MAL2 distributed to the apical membrane, [RefSeq, PubMed]; Member of the machinery of polarized transport. Required for the indirect transcytotic route at the step of the egress of the transcytosing cargo from perinuclear endosomes in order for it to travel to the apical surface via a raft-dependent pathway., [UniProtKB, PubMed]; The novel circ_0084904/miR-802/MAL2 axis promotes the development of cervical cancer., [RefSeq, PubMed]; This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [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, "reported_n_glycosites": 1, "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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R520;Q6ZMD9", "ec_number_list": [], "go_molecular_function": "GO:0019911 structural constituent of myelin sheath", "go_cellular_component": "GO:0016020 membrane;GO:0045121 membrane raft;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome;GO:0012505 endomembrane system", "go_biological_process": "GO:0042552 myelination", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q969L2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP98-1", "uniprot_id": [ { "id": "MYOZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP98", "type": "external" } ], "mass": 31745.0, "length": 299, "protein_name": "Myozenin-1", "gene_name": "MYOZ1", "organism": "Human", "refseq_name": "myozenin-1", "refseq_ac": [ { "id": "NP_067068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067068", "type": "external" } ], "gene_names_uniprotkb": "MYOZ1; MYOZ", "gene_names_refseq": "CS-2; FATZ; MYOZ1; MYOZ", "protein_names_uniprotkb": "Myozenin-1; Calsarcin-2; Filamin-, actinin- and telethonin-binding protein; Protein FATZ", "protein_names_refseq": "calsarcin-2; filamin-, actinin- and telethonin-binding protein; myozenin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:58529)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10984498;11114196;11171996;11842093;16076904;24177373;29557506;30429286;31154438;35051231;35580925", "class_list": "", "function": "Myozenins may serve as intracellular binding proteins involved in linking Z-disk proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis., [UniProtKB]; Our results implicate MYOZ1 as the causative gene at the chromosome 10q22 locus for AF., [RefSeq, PubMed]; The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9H1I7", "ec_number_list": [], "go_molecular_function": "GO:0004865 protein serine/threonine phosphatase inhibitor activity;GO:0003779 actin binding;GO:0051373 FATZ binding;GO:0031433 telethonin binding;GO:0042805 actinin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0015629 actin cytoskeleton;GO:0030018 Z disc;GO:0031143 pseudopodium", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0043503 skeletal muscle fiber adaptation;GO:0070885 negative regulation of calcineurin-NFAT signaling cascade;GO:0045214 sarcomere organization;GO:0042060 wound healing", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9NP98-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09769-1", "uniprot_id": [ { "id": "FGR_HUMAN", "url": "https://www.uniprot.org/uniprot/P09769", "type": "external" } ], "mass": 59479.0, "length": 529, "protein_name": "Tyrosine-protein kinase Fgr", "gene_name": "FGR", "organism": "Human", "refseq_name": "tyrosine-protein kinase Fgr", "refseq_ac": [ { "id": "NP_001036194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036194", "type": "external" } ], "gene_names_uniprotkb": "FGR; SRC2", "gene_names_refseq": "FGR; SRC2; c-fgr; c-src2; p55-Fgr; p55c-fgr; p58-Fgr; p58c-fgr", "protein_names_uniprotkb": "Tyrosine-protein kinase Fgr; 2.7.10.2; Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog; Proto-oncogene c-Fgr; p55-Fgr; p58-Fgr; p58c-Fgr", "protein_names_refseq": "Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog; c-fgr protooncogene; c-src-2 proto-oncogene; p55-c-fgr protein; proto-oncogene c-Fgr; proto-oncogene tyrosine-protein kinase FGR; tyrosine-protein kinase Fgr; v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); developmental and epileptic encephalopathy 41 (Disease Ontology:DOID:0080442); intestinal cancer (Disease Ontology:DOID:10155); Alzheimer's disease (Disease Ontology:DOID:10652); opioid abuse (Disease Ontology:DOID:11206); Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289); alcohol use disorder (Disease Ontology:DOID:1574); drug psychosis (Disease Ontology:DOID:1742); Goldenhar syndrome (Disease Ontology:DOID:2907); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); middle cerebral artery infarction (Disease Ontology:DOID:3525); colorectal cancer (Disease Ontology:DOID:9256); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:2268); (R-HSA-2029481); (R-HSA-432142); (R-HSA-6798695); (R-HSA-9664323); (R-HSA-9664422)", "pathway_count": 6, "publication_count": 108, "publication_id_list": "10219243;10579907;10724160;10739672;10754332;10861086;10995437;11078731;11237011;11854399;12117970;12417718;12435267;12775720;1314888;1372004;15161916;15452139;15459198;15879134;16546099;1690869;16921024;17164290;17308335;17339487;17344846;1737799;18070890;18083107;1847500;18818202;19369195;19741094;19955216;21037092;2181286;23650620;23675550;24715725;2474607;2529342;25880248;26154972;26375851;28467828;2852026;28832583;28904123;29242379;29557506;29632046;29786170;3023853;30352950;30429286;30573663;31154438;31790499;31844290;31848261;32265295;32357974;3275868;32983136;33298915;3330776;34185709;34357683;34902430;34932366;35051231;35154160;35254053;35580925;36010968;37116292;40914422;7512959;7515063;7516890;7517665;7519620;7521687;7522622;7530449;7718892;8226994;8327478;8327512;8340414;8541526;8603737;8611682;8612628;8657103;8692836;8809042;8862523;8986718;9000504;9042338;9050880;9162098;9314552;9857068;9883880;9885284", "class_list": "", "function": "A Model for the Signal Initiation Complex Between Arrestin-3 and the Src Family Kinase Fgr., [RefSeq, PubMed]; Fgr is a transforming oncoprotein that functions independently of SH3-SH2 domain regulation Publication Status: Online-Only, [RefSeq, PubMed]; Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors devoid of kinase activity and contributes to the regulation of immune responses, including neutrophil, monocyte, macrophage and mast cell functions, cytoskeleton remodeling in response to extracellular stimuli, phagocytosis, cell adhesion and migration. Promotes mast cell degranulation, release of inflammatory cytokines and IgE-mediated anaphylaxis. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as MS4A2/FCER1B, FCGR2A and/or FCGR2B. Acts downstream of ITGB1 and ITGB2, and regulates actin cytoskeleton reorganization, cell spreading and adhesion. Depending on the context, activates or inhibits cellular responses. Functions as a negative regulator of ITGB2 signaling, phagocytosis and SYK activity in monocytes. Required for normal ITGB1 and ITGB2 signaling, normal cell spreading and adhesion in neutrophils and macrophages. Functions as a positive regulator of cell migration and regulates cytoskeleton reorganization via RAC1 activation. Phosphorylates SYK (in vitro) and promotes SYK-dependent activation of AKT1 and MAP kinase signaling. Phosphorylates PLD2 in antigen-stimulated mast cells, leading to PLD2 activation and the production of the signaling molecules lysophosphatidic acid and diacylglycerol. Promotes activation of PIK3R1. Phosphorylates FASLG, and thereby regulates its ubiquitination and subsequent internalization. Phosphorylates ABL1. Promotes phosphorylation of CBL, CTTN, PIK3R1, PTK2/FAK1, PTK2B/PYK2 and VAV2. Phosphorylates HCLS1 that has already been phosphorylated by SYK, but not unphosphorylated HCLS1. Together with CLNK, it acts as a negative regulator of natural killer cell-activating receptors and inhibits interferon-gamma production (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; These studies show that Hck and Fgr expression influences inhibitor sensitivity and the pathway to acquired resistance in Flt3-ITD+ AML. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants in PSMB9 and FGR differentially affect Parkinson's disease risk in GBA and LRRK2 mutation carriers., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DPL7;Q9UIQ3", "ec_number_list": [ { "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", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "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", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "2.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.7", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "1.11.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.7", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0034987 immunoglobulin receptor binding;GO:0001784 phosphotyrosine residue binding;GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007229 integrin-mediated signaling pathway;GO:0018108 peptidyl-tyrosine phosphorylation;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P09769-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98175-1", "uniprot_id": [ { "id": "RBM10_HUMAN", "url": "https://www.uniprot.org/uniprot/P98175", "type": "external" } ], "mass": 103533.0, "length": 930, "protein_name": "RNA-binding protein 10", "gene_name": "RBM10", "organism": "Human", "refseq_name": "RNA-binding protein 10 isoform 5", "refseq_ac": [ { "id": "NP_001191397", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191397", "type": "external" } ], "gene_names_uniprotkb": "RBM10; DXS8237E; GPATC9; GPATCH9; KIAA0122", "gene_names_refseq": "DXS8237E; GPATC9; GPATCH9; MINAS-60; RBM10; S1-1; TARPS; ZRANB5", "protein_names_uniprotkb": "RNA-binding protein 10; G patch domain-containing protein 9; RNA-binding motif protein 10; RNA-binding protein S1-1; S1-1", "protein_names_refseq": "G-patch domain containing 9; RNA-binding protein 10 isoform 5; RNA-binding protein S1-1; epididymis secretory sperm binding protein; g patch domain-containing protein 9; zinc finger RANBP2-type containing 5", "tax_id": 9606, "disease": "TARP syndrome (Disease Ontology:DOID:0111780); lung cancer (Disease Ontology:DOID:1324); lung adenocarcinoma (Disease Ontology:DOID:3910); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:8241); (R-HSA-72163); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9920588)", "pathway_count": 5, "publication_count": 223, "publication_id_list": "10669729;10882114;11014198;11060040;11101529;11233976;11991638;12176931;12411573;12414731;12477934;14625303;14713954;14749727;15037765;15302935;15345747;15565158;16314458;16552754;16809785;16959974;17081983;17095540;17128255;17287340;17322306;17332742;17525332;17606899;17707232;18077418;18288197;18315527;18322460;18452278;18496526;18593880;18669648;18691976;18707149;18767875;19103666;19165350;19217410;19413330;19415658;19536130;19608861;19651622;19664995;19690332;19754307;20068231;20166139;20187088;20423332;20451169;20695905;20980672;21256132;21295486;21406692;21536652;21566123;2176635;22110043;22365833;22813749;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23874216;24076191;24129315;24149845;24173023;24196718;24275569;24304693;24316715;24407421;24448447;24715725;24737827;24914973;24981863;25301780;25301781;25555158;25576301;2558966;25810538;25880248;25892735;26154972;26375851;26385511;26420826;26969736;26992070;27377154;27459055;27683217;27832191;27846572;28062851;28076346;28096519;28431233;28502770;28510447;28764923;28781166;28832583;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29437277;29493099;29557506;2963332;29786170;30059200;30139799;30257008;30315122;30315277;30379171;30410026;30429286;30550790;30705154;30728453;30765414;30779550;30975767;31409651;31844290;31848261;31867016;31998317;32119511;32152943;32157095;32161166;32179686;32329775;32350084;32357974;32387766;32432721;32494006;32778820;32816001;32938616;33123756;33141586;33214551;33243851;33298915;33392160;33446560;33465208;33592498;33633747;33691108;33717175;33912179;33936100;33981976;34019948;34087483;34211107;34301950;34725712;34822310;35051231;35138101;35177536;35251023;35254053;35318648;35385551;35393574;35580925;36010968;36241641;36581221;36608868;3757028;37991381;38032932;38246397;38576051;38665916;40307207;40596516;40914422;8352591;8566756;8608946;8808293;9016565;9242493;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "Acts as a late-stage inhibitor of pre-60S ribosome assembly by preventing pre-60S ribosome export from nucleus., [UniProtKB, PubMed]; An RBM10 and NF-kappaB interacting host lncRNA promotes JEV replication and neuronal cell death., [RefSeq, PubMed]; Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). May be involved in post-transcriptional processing, most probably in mRNA splicing (PubMed:18315527). Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity). May bind to specific miRNA hairpins (PubMed:28431233)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; From these results, it seems that the X-chromosome, through its RBM genes, plays a formerly unknown role in the regulation of programmed cell death (apoptosis) in breast cancer., [RefSeq, PubMed]; RBM10 C761Y mutation induced oncogenic ASPM isoforms and regulated beta-catenin signaling in cholangiocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; RBM10 recruits METTL3 to induce N6-methyladenosine-MALAT1-dependent modification, inhibiting the invasion and migration of NSCLC., [RefSeq, PubMed]; RBM10 regulates the tumorigenic potential of human cancer cells by modulating PPM1B and YBX1 activities., [RefSeq, PubMed]; RNA-binding motif protein 10 inactivates c-Myc by partnering with ribosomal proteins uL18 and uL5., [RefSeq, PubMed]; This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]., [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": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MR66;C4AM81;Q14136;Q5JRR2;Q9BTE4;Q9BTX0;Q9NTB1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0035198 miRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0032991 protein-containing complex;GO:0005730 nucleolus", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:2000204 negative regulation of ribosomal large subunit export from nucleus", "synthesized_glycan_count": 0, "hit_score": 23.1, "record_id": "P98175-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05556-1", "uniprot_id": [ { "id": "ITB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P05556", "type": "external" } ], "mass": 88415.0, "length": 798, "protein_name": "Integrin beta-1", "gene_name": "ITGB1", "organism": "Human", "refseq_name": "integrin beta-1 isoform 1A precursor", "refseq_ac": [ { "id": "NP_002202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002202", "type": "external" } ], "gene_names_uniprotkb": "ITGB1; FNRB; MDF2; MSK12", "gene_names_refseq": "CD29; FNRB; GPIIA; ITGB1; MDF2; MSK12; VLA-BETA; VLAB", "protein_names_uniprotkb": "Integrin beta-1; Fibronectin receptor subunit beta; GPIIA; Glycoprotein IIa; VLA-4 subunit beta", "protein_names_refseq": "glycoprotein IIa; integrin VLA-4 beta subunit; integrin beta 1; integrin beta-1 isoform 1A precursor; integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12); very late activation protein, beta polypeptide", "tax_id": 9606, "disease": "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:3688); (R-HSA-1566948); (R-HSA-1566977); (R-HSA-198933); (R-HSA-202733); (R-HSA-210991); (R-HSA-2129379); (R-HSA-216083); (R-HSA-2173789); (R-HSA-3000157); (R-HSA-3000170); (R-HSA-3000178); (R-HSA-416700); (R-HSA-445144); (R-HSA-446343); (R-HSA-447041); (R-HSA-5663220); (R-HSA-6785807); (R-HSA-75892); (R-HSA-8874081); (R-HSA-8875513); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013408); (R-HSA-9013423); (R-HSA-9609690); (R-HSA-9634597); (R-HSA-9679191); (R-HSA-9725554); (R-HSA-9830674); (R-HSA-9856532); (R-HSA-9860927); (R-HSA-9927418); (R-HSA-9927432); (R-HSA-9938206)", "pathway_count": 35, "publication_count": 1021, "publication_id_list": 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"class_list": "glycogene", "function": "(Microbial infection) Acts as a receptor for Cytomegalovirus/HHV-5., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for Epstein-Barr virus/HHV-4., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for Mammalian reovirus., [UniProtKB, PubMed]; (Microbial infection) Facilitates rabies infection in a fibronectin-dependent manner and participates in rabies virus traffic after internalization., [UniProtKB, PubMed]; (Microbial infection) In case of HIV-1 infection, integrin ITGA5:ITGB1 binding to extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human echoviruses 1 and 8., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human rotavirus., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGA5:ITGB1 acts as a receptor for Human parvovirus B19., [UniProtKB, PubMed]; (Microbial infection) Interacts with CotH proteins expressed by fungi of the order mucorales, the causative agent of mucormycosis, which plays an important role in epithelial cell invasion by the fungi (PubMed:32487760). Integrin ITGA3:ITGB1 may act as a receptor for R.delemar CotH7 in alveolar epithelial cells, which may be an early step in pulmonary mucormycosis disease progression (PubMed:32487760)., [UniProtKB, PubMed]; (Microbial infection) May serve as a receptor for adhesin A (nadA) of N.meningitidis., [UniProtKB, PubMed]; Alpha9beta1 integrin & its ligands as new potential biomarkers in FMF., [RefSeq, PubMed]; Although cytoplasmic splice variants do not change the ligand-specificity of a beta 1 integrin, this review explains how clustering of different splice variants triggers signaling pathways that lead to a different cellular response. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta-1 and alpha-11/beta-1 are receptors for collagen. Integrins alpha-1/beta-1 and alpha-2/beta-2 recognize the proline-hydroxylated sequence G-F-P-G-E-R in collagen. Integrins alpha-2/beta-1, alpha-3/beta-1, alpha-4/beta-1, alpha-5/beta-1, alpha-8/beta-1, alpha-10/beta-1, alpha-11/beta-1 and alpha-V/beta-1 are receptors for fibronectin. Alpha-4/beta-1 recognizes one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. Integrin alpha-5/beta-1 is a receptor for fibrinogen. Integrin alpha-1/beta-1, alpha-2/beta-1, alpha-6/beta-1 and alpha-7/beta-1 are receptors for lamimin. Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-4/beta-1 is a receptor for VCAM1. It recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha-9/beta-1 is a receptor for VCAM1, cytotactin and osteopontin. It recognizes the sequence A-E-I-D-G-I-E-L in cytotactin. Integrin alpha-3/beta-1 is a receptor for epiligrin, thrombospondin and CSPG4. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. Integrin alpha-V/beta-1 is a receptor for vitronectin. Beta-1 integrins recognize the sequence R-G-D in a wide array of ligands. When associated with alpha-7 integrin, regulates cell adhesion and laminin matrix deposition. Involved in promoting endothelial cell motility and angiogenesis. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process and the formation of mineralized bone nodules. May be involved in up-regulation of the activity of kinases such as PKC via binding to KRT1. Together with KRT1 and RACK1, serves as a platform for SRC activation or inactivation. Plays a mechanistic adhesive role during telophase, required for the successful completion of cytokinesis. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. ITGA4:ITGB1 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415, PubMed:24789099). ITGA4:ITGB1 and ITGA5:ITGB1 bind to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). ITGA5:ITGB1 acts as a receptor for fibronectin FN1 and mediates R-G-D-dependent cell adhesion to FN1 (PubMed:33962943). ITGA5:ITGB1 is a receptor for IL1B and binding is essential for IL1B signaling (PubMed:29030430). ITGA5:ITGB3 is a receptor for soluble CD40LG and is required for CD40/CD40LG signaling (PubMed:31331973). Plays an important role in myoblast differentiation and fusion during skeletal myogenesis (By similarity). ITGA9:ITGB1 may play a crucial role in SVEP1/polydom-mediated myoblast cell adhesion (By similarity). Integrins ITGA9:ITGB1 and ITGA4:ITGB1 repress PRKCA-mediated L-type voltage-gated channel Ca(2+) influx and ROCK-mediated calcium sensitivity in vascular smooth muscle cells via their interaction with SVEP1, thereby inhibit vasocontraction (PubMed:35802072)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Interferes with isoform 1 resulting in a dominant negative effect on cell adhesion and migration (in vitro)., [UniProtKB, PubMed]; Isoform 5 displaces isoform 1 in striated muscles., [UniProtKB, UniProtKB]; Tetraspanin 3 promotes NSCLC cell proliferation via regulation of beta1 integrin intracellular recycling. Publication Status: Online-Only, [RefSeq, 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": 13, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 12, "reported_o_glycosites_with_glycan": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 14, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 14, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 39, "reported_phosphosites": 10, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 757, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 217, "disease_count": 8, "glyco_site_count": 32, "binding_glycan_count": 0, "secondary_ac_list": "A8K6N2;D3DRX9;D3DRY3;D3DRY4;D3DRY5;P78466;P78467;Q13089;Q13090;Q13091;Q13212;Q14622;Q14647;Q29RW2;Q7Z3V1;Q8WUM6", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0002020 protease binding;GO:0003779 actin binding;GO:0005178 integrin binding;GO:0015026 coreceptor activity", "go_cellular_component": "GO:0035748 myelin sheath abaxonal region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface", "go_biological_process": "GO:0007161 calcium-independent cell-matrix adhesion;GO:0023035 CD40 signaling pathway;GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 127.1, "record_id": "P05556-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBS8-1", "uniprot_id": [ { "id": "RNF14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBS8", "type": "external" } ], "mass": 53837.0, "length": 474, "protein_name": "E3 ubiquitin-protein ligase RNF14", "gene_name": "RNF14", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF14 isoform 1", "refseq_ac": [ { "id": "NP_001188294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188294", "type": "external" } ], "gene_names_uniprotkb": "RNF14; ARA54; HRIHFB2038", "gene_names_refseq": "ARA54; HFB30; HRIHFB2038; RNF14; TRIAD2", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF14; 2.3.2.31; Androgen receptor-associated protein 54; HFB30; RING finger protein 14", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF14 isoform 1; E3 ubiquitin-protein ligase RNF14; androgen receptor associated protein 54", "tax_id": 9606, "disease": "", "pathway": " (hsa:9604); (R-HSA-983168)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10085091;10320776;11062501;11237011;11322894;11350924;11673464;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;18669648;18691976;19028597;19345326;19352404;19452197;19489725;19851334;19874575;19940261;2261476;23186163;23301498;23449499;23481700;25892735;26154972;26992070;27600516;28228285;28649982;28834231;28904123;29557506;29632046;29786170;30315122;30429286;31844290;32157095;32387766;32488085;32938616;33592498;33912179;33968037;33981976;34185709;34405274;34509645;34561969;35051231;35580925;36010968;36215666;36638793;37651229;37951215;37951216;9380723;9668046;9853615", "class_list": "", "function": "Dominant-negative AR coregulator can suppress AR transactivation and cell proliferation in prostate cancer cells, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that plays a key role in the RNF14-RNF25 translation quality control pathway, a pathway that takes place when a ribosome has stalled during translation, and which promotes ubiquitination and degradation of translation factors on stalled ribosomes (PubMed:36638793, PubMed:37651229, PubMed:37951215, PubMed:37951216). Recruited to stalled ribosomes by the ribosome collision sensor GCN1 and mediates 'Lys-6'-linked ubiquitination of target proteins, leading to their degradation (PubMed:36638793, PubMed:37651229, PubMed:37951215, PubMed:37951216). Mediates ubiquitination of EEF1A1/eEF1A and ETF1/eRF1 translation factors on stalled ribosomes, leading to their degradation (PubMed:36638793, PubMed:37651229). Also catalyzes ubiquitination of ribosomal proteins RPL0, RPL1, RPL12, RPS13 and RPS17 (PubMed:36638793). Specifically required to resolve RNA-protein cross-links caused by reactive aldehydes, which trigger translation stress by stalling ribosomes: acts by catalying 'Lys-6'-linked ubiquitination of RNA-protein cross-links, leading to their removal by the ATP-dependent unfoldase VCP and subsequent degradation by the proteasome (PubMed:37951215, PubMed:37951216). Independently of its function in the response to stalled ribosomes, acts as a regulator of transcription in Wnt signaling via its interaction with TCF transcription factors (TCF7/TCF1, TCF7L1/TCF3 and TCF7L2/TCF4) (PubMed:23449499). May also play a role as a coactivator for androgen- and, to a lesser extent, progesterone-dependent transcription (PubMed:19345326)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RNF14-dependent atypical ubiquitylation promotes translation-coupled resolution of RNA-protein crosslinks., [RefSeq, PubMed]; The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Six alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq, Jan 2011]., [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": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "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": "A0AV26;A6NMR2;A8MTW5;B3KN72;B7ZLV2;D3DQE4;O94793;Q6IBV0", "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:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0019787 ubiquitin-like protein transferase activity;GO:0031624 ubiquitin conjugating enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0022626 cytosolic ribosome", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9UBS8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JD6-1", "uniprot_id": [ { "id": "AKCL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JD6", "type": "external" } ], "mass": 36589.0, "length": 320, "protein_name": "1,5-anhydro-D-fructose reductase", "gene_name": "AKR1E2", "organism": "Human", "refseq_name": "1,5-anhydro-D-fructose reductase isoform 1", "refseq_ac": [ { "id": "NP_001035267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035267", "type": "external" } ], "gene_names_uniprotkb": "AKR1E2; AKR1CL2; AKRDC1", "gene_names_refseq": "AKR1CL2; AKR1E2; AKRDC1; HTSP1; LoopADR; TAKR; hTSP; htAKR", "protein_names_uniprotkb": "1,5-anhydro-D-fructose reductase; 1.1.1.263; AF reductase; Aldo-keto reductase family 1 member C-like protein 2; Aldo-keto reductase family 1 member E2; LoopADR; Testis aldo-keto reductase; Testis-specific protein; hTSP; htAKR", "protein_names_refseq": "1,5-anhydro-D-fructose reductase isoform 1; 1,5-anhydro-D-fructose reductase; AF reductase; aldo-keto reductase family 1 member C-like protein 2; aldo-keto reductase family 1, member C-like 2; aldo-keto reductase loopADR; human testis aldo-keto reductase; human testis specific protein; testis aldo-keto reductase; testis-specific protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:83592); (R-HSA-70221)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10487978;10949035;11237011;12604216;12825073;12930917;13115432;15118078;18323634;21767668;2667896;2961257;3049072;33592498;34171305;34509645;4829444;5264799;5461220;7847371;7902568;8420990;8755644;8896567;9504428;9691087", "class_list": "", "function": "Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH-dependent reductase activity towards 9,10-phenanthrenequinone (in vitro) (PubMed:12604216, PubMed:15118078)., [UniProtKB, PubMed, UniProtKB, PubMed]; Results indicate that the expression of human testis aldo-keto reductase, down-regulated in the testicular tumour, is possibly controlled by mitogenic and hormonal signals, [RefSeq, PubMed]; The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [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, "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": 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": "Q86Z16;Q86Z17;Q86Z18;Q9BU71", "ec_number_list": [ { "id": "1.1.1.263", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.263", "type": "external" } ], "go_molecular_function": "GO:0004032 aldose reductase (NADPH) activity;GO:0016491 oxidoreductase activity;GO:0050571 1,5-anhydro-D-fructose reductase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0005980 glycogen catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96JD6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N157-1", "uniprot_id": [ { "id": "AHI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N157", "type": "external" } ], "mass": 137115.0, "length": 1196, "protein_name": "Jouberin", "gene_name": "AHI1", "organism": "Human", "refseq_name": "jouberin isoform a", "refseq_ac": [ { "id": "NP_001128302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128302", "type": "external" } ], "gene_names_uniprotkb": "AHI1", "gene_names_refseq": "AHI-1; AHI1; JBTS3; ORF1; dJ71N10.1", "protein_names_uniprotkb": "Jouberin; AHI-1; Abelson helper integration site 1 protein homolog", "protein_names_refseq": "abelson helper integration site 1 protein homolog; contatins SH3 and WD40 domains; jouberin isoform a", "tax_id": 9606, "disease": "Joubert syndrome (Disease Ontology:DOID:0050777); autism spectrum disorder (Disease Ontology:DOID:0060041); Joubert syndrome 3 (Disease Ontology:DOID:0110998); Joubert syndrome 4 (Disease Ontology:DOID:0110999); nephronophthisis (Disease Ontology:DOID:12712); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:54806); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "11230166;11237011;14751929;15169551;15322546;15467982;16155189;16357211;16453322;17574030;17646400;17719545;18037885;18633336;18669648;18694559;18801063;19004860;19081074;19940019;20230748;20308558;20399632;20558667;21273506;21422230;21548880;21565611;21620453;21623382;21725307;21792235;22179047;22425360;22433857;22623184;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23481700;23530209;23532844;23747070;23769972;23789104;24053599;24089205;24231678;24469809;24982133;25047611;25313408;25576301;26375851;26992070;27600516;27862975;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632711;30379171;30429286;30779550;31154438;31786207;31844290;31848261;32157095;32161166;32335874;32357974;32387766;32938616;32983136;33298915;33592498;33691108;33912179;33981976;34087483;34185709;34191236;34405274;34509645;34932366;35051231;35580925;36010968;36241641;36284347;37938771;38036661;39894887", "class_list": "", "function": "Abelson Helper Integration Site 1 haplotypes and peripheral blood expression associates with lithium response and immunomodulation in bipolar patients., [RefSeq, PubMed]; An early event of AHI1 reduction in the body of AD patients was observed. Serum AHI1 may be valuable for early diagnosis of Alzheimer disease, [RefSeq, PubMed]; Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum. Review article, [RefSeq, PubMed]; In both mice and humans, Ahi-1/AHI-1 expression is highest in the most primitive hematopoietic cells with specific patterns of down-regulation in different lineages. Cells from CML patients show elevated AHI-1 transcripts in all disease phases, [RefSeq, PubMed]; Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The proband of family 1 with Joubert syndrome was found to harbor homozygous c.2072delT (p.F691S*fs19) frameshift variant of the AHI1 gene, which may cause premature termination of translation of the Abelson helper integration site 1 after the 691st amino acid, [RefSeq, PubMed]; This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 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, "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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P584;Q4FD35;Q504T3;Q5TCP9;Q6P098;Q6PIT6;Q8NDX0;Q9H0H2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005911 cell-cell junction;GO:0005912 adherens junction;GO:0005929 cilium", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0043066 negative regulation of apoptotic process;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0050795 regulation of behavior;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q8N157-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z569-1", "uniprot_id": [ { "id": "BRAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z569", "type": "external" } ], "mass": 67305.0, "length": 592, "protein_name": "BRCA1-associated protein", "gene_name": "BRAP", "organism": "Human", "refseq_name": "BRCA1-associated protein", "refseq_ac": [ { "id": "NP_006759", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006759", "type": "external" } ], "gene_names_uniprotkb": "BRAP; RNF52", "gene_names_refseq": "BRAP2; BRAP; IMP; RNF52", "protein_names_uniprotkb": "BRCA1-associated protein; 2.3.2.27; BRAP2; IMP; Impedes mitogenic signal propagation; RING finger protein 52; RING-type E3 ubiquitin transferase BRAP2; Renal carcinoma antigen NY-REN-63", "protein_names_refseq": "BRCA1-associated protein; RING finger protein 52; RING-type E3 ubiquitin transferase BRAP2; galectin-2-binding protein; impedes mitogenic signal propagation; renal carcinoma antigen NY-REN-63", "tax_id": 9606, "disease": "", "pathway": " (hsa:8315); (R-HSA-5673000); (R-HSA-5675221); (R-HSA-6802946); (R-HSA-6802955); (R-HSA-9649948)", "pathway_count": 6, "publication_count": 190, "publication_id_list": "10205168;10206983;10415025;10490027;10508479;10702794;10712905;10757792;10777491;10891492;11032810;11237011;11325826;11494123;11741534;11756411;12068308;12244094;12551923;12583813;12932319;12932339;14530258;14724641;15035987;15258589;15340083;15467451;15664191;15710605;15711535;15851477;15899852;16041367;16093354;16294014;16364920;16508002;16537381;16630891;16702958;16892053;17018604;17097642;17724343;18294816;18332145;18515281;18547165;18562239;18662992;18669648;19049963;19091743;19158341;19413330;19541618;19664995;19684605;19727074;19933846;20068231;20130576;20141835;20179705;20332238;20674547;20820846;21406692;21441104;21441910;21514245;21779496;21993244;22043453;22292133;22510884;22589270;22592532;22730326;23105109;23186163;23352452;23360980;23453624;23680146;23863182;23906342;23993095;24121058;24121489;24202393;24211266;24347342;24366607;24397554;24651010;24714562;24715725;24937142;24957944;25314968;25418920;25435214;25576301;25597358;25645385;25802875;25892735;25907612;25965804;26154972;26343583;26375851;26728094;26811146;26992070;27264673;27600516;27920218;27999210;28082416;28121444;28218747;28228285;28289718;28649982;28666118;28832583;28834231;28904123;28984291;29242379;29393594;29437277;29461827;29557506;29632046;29769354;29786170;30315122;30429286;31154438;31291378;31530632;31844290;32157095;32350084;32357974;32488085;32502341;32843694;32897882;32938616;32983136;33093602;33141586;33298915;33392160;33592498;33717175;33912179;33968037;33981976;34185709;34357683;34932366;35051231;35580925;36010968;36241641;36284347;36669126;37938771;38253038;40596516;7542586;7744815;8521512;8521513;8521514;8637718;8876196;8946910;9020159;9234708;9497340;9689060;9823899;9858547", "class_list": "", "function": "BAP1 Loss Is Associated with Higher ASS1 Expression in Epithelioid Mesothelioma: Implications for Therapeutic Stratification., [RefSeq, PubMed]; CUX2, BRAP and ALDH2 are associated with metabolic traits in people with excessive alcohol consumption. Publication Status: Online-Only, [RefSeq, PubMed]; Modulates sensitivity of the MAP kinase cascade to stimulus-dependent activation by limiting functional assembly of the core enzymatic components through the inactivation of KSR, [RefSeq, PubMed]; Monocytic differentiation of the promyelomonocytic cell lines U937 and HL60 is associated with the upregulation of Brap2 expression concomitantly with the upregulation and cytoplasmic relocalization of p21., [RefSeq, PubMed]; Negatively regulates MAP kinase activation by limiting the formation of Raf/MEK complexes probably by inactivation of the KSR1 scaffold protein. Also acts as a Ras responsive E3 ubiquitin ligase that, on activation of Ras, is modified by auto-polyubiquitination resulting in the release of inhibition of Raf/MEK complex formation. May also act as a cytoplasmic retention protein with a role in regulating nuclear transport., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Potential mechanisms underlying the association between single nucleotide polymorphism (BRAP and ALDH2) and hypertension among elderly Japanese population. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [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, "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": 1, "reported_glycation": 0, "reported_snv": 16, "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": "B4DRM1;B9EGS8;O43238;O75341", "ec_number_list": [ { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "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:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0003676 nucleic acid binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0000165 MAPK cascade;GO:0007265 Ras protein signal transduction;GO:0016567 protein ubiquitination;GO:0009968 negative regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "Q7Z569-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRQ3-1", "uniprot_id": [ { "id": "NUD22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRQ3", "type": "external" } ], "mass": 32580.0, "length": 303, "protein_name": "Uridine diphosphate glucose pyrophosphatase NUDT22", "gene_name": "NUDT22", "organism": "Human", "refseq_name": "uridine diphosphate glucose pyrophosphatase NUDT22 isoform a", "refseq_ac": [ { "id": "NP_001122084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122084", "type": "external" } ], "gene_names_uniprotkb": "NUDT22; PP11246", "gene_names_refseq": "NUDT22", "protein_names_uniprotkb": "Uridine diphosphate glucose pyrophosphatase NUDT22; 3.6.1.-; Nucleoside diphosphate-linked moiety X motif 22; Nudix motif 22", "protein_names_refseq": "UDPG pyrophosphatase; UGPPase; nucleoside diphosphate-linked moiety X motif 22; nudix (nucleoside diphosphate linked moiety X)-type motif 22; nudix motif 22; uridine diphosphate glucose pyrophosphatase NUDT22 isoform a; uridine diphosphate glucose pyrophosphatase NUDT22", "tax_id": 9606, "disease": "", "pathway": " (hsa:84304)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;15498874;19913121;20237496;20628086;23481700;24715725;25418920;25576301;25880248;26154972;26929215;26992070;27862975;27920218;28218747;28228285;28832583;28904123;29242379;29413322;29437277;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30779550;31844290;32157095;32357974;32502341;32938616;33123756;33141586;33298915;33592498;33717175;33912179;33968037;33981976;34087483;34185709;34211107;34561969;34932366;35051231;35318648;36010968;36215666;36241641;36871087;37938771", "class_list": "", "function": "NUDT22 promotes cancer growth through pyrimidine salvage., [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, PubMed]; Pyrophosphatase hydrolyzing the diphosphate bond in the nucleotide-sugars UDP-glucose and UDP-galactose with a preference for the former, yielding glucose 1-phosphate or galactose 1-phosphate and UMP., [UniProtKB, 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": 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": 3, "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": "C9JY06;Q71RD5", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.13", "type": "external" } ], "go_molecular_function": "GO:0008768 UDP-sugar diphosphatase activity;GO:0046872 metal ion binding;GO:0052751 GDP-mannose hydrolase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9BRQ3-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZM8-1", "uniprot_id": [ { "id": "NDEL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZM8", "type": "external" } ], "mass": 38375.0, "length": 345, "protein_name": "Nuclear distribution protein nudE-like 1", "gene_name": "NDEL1", "organism": "Human", "refseq_name": "nuclear distribution protein nudE-like 1 isoform A", "refseq_ac": [ { "id": "NP_001020750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020750", "type": "external" } ], "gene_names_uniprotkb": "NDEL1; EOPA; MITAP1; NUDEL", "gene_names_refseq": "EOPA; MITAP1; NDE1L1; NDE2; NDEL1; NUDEL", "protein_names_uniprotkb": "Nuclear distribution protein nudE-like 1; Mitosin-associated protein 1; Protein Nudel", "protein_names_refseq": "endooligopeptidase A; mitosin-associated protein 1; mitosin-associated protein MITAP1; nuclear distribution protein nudE-like 1 isoform A; nudE nuclear distribution E homolog-like 1; nudE nuclear distribution gene E homolog-like 1; protein Nudel", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); epilepsy (Disease Ontology:DOID:1826); Rubinstein-Taybi syndrome (Disease Ontology:DOID:1933); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:81565); (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": 138, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11163260;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12506198;12556484;12577064;12679384;12732141;12796778;12805219;12812986;12852857;14730319;14962739;14970193;15006353;15085137;15339662;15507212;15572112;15723797;15728732;15737063;15864301;15866170;15944396;16005531;16203747;16291865;16292343;16439214;16541025;16622419;16622420;16682347;16682949;16890222;16943183;17030981;17035248;17060449;17112726;17113138;17129783;17196341;17198702;1737036;17600710;18001770;18097444;18347064;18669648;18716626;18923426;19350017;19413330;19668197;19696148;19815554;19927128;19965387;20030946;20068231;20101212;20112406;20141511;20591975;21111234;21148482;21397845;21576392;21868368;21878504;21948775;21987589;22094460;22275430;22608513;22790947;22885700;23186163;23222643;23801653;24914801;25418920;25645385;25740311;25789526;25892735;27846572;27862975;29493099;29557506;30410026;30429286;31409757;31815665;31844290;32157095;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33717175;33968037;33981976;34019948;34260926;34561969;34793709;34932366;35051231;35580925;36254578;36284347;36350697;36581221;36858606;37086789;38194050;9649308;9649503;9892021", "class_list": "", "function": "Disease mutant form of Disrupted-in-Schizophrenia-1 fails to bind NUDEL Erratum:[Proc Natl Acad Sci U S A. 2004 Sep 21;101(38):13969], [RefSeq, PubMed]; Effects of representative point mutations on dynamic behavior of the DISC1-Ndel1 complex: a molecular dynamics study., [RefSeq, PubMed]; Ndel1 disfavors dynein-dynactin-adaptor complex formation in two distinct ways., [RefSeq, PubMed]; Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear distribution element-like 1 (Ndel1 or Nudel) was firstly described as a regulator of the cytoskeleton in microtubule and intermediate filament dynamics and microtubule-based transport. Review article, [RefSeq, PubMed]; Required for organization of the cellular microtubule array and microtubule anchoring at the centrosome. May regulate microtubule organization at least in part by targeting the microtubule severing protein KATNA1 to the centrosome. Also positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus ends. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the centripetal motion of secretory vesicles and the coupling of the nucleus and centrosome. Also required during brain development for the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Plays a role, together with DISC1, in the regulation of neurite outgrowth. Required for mitosis in some cell types but appears to be dispensible for mitosis in cortical neuronal progenitors, which instead requires NDE1. Facilitates the polymerization of neurofilaments from the individual subunits NEFH and NEFL. Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). Plays a role, together with DISC1, in the regulation of neurite outgrowth (By similarity). May act as a RAB9A/B effector that tethers RAB9-associated late endosomes to the dynein motor for their retrograde transport to the trans-Golgi network (PubMed:34793709)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, 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": 25, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KP93;D3DTS0;J3QT32;Q86T80;Q8TAR7;Q9UH50", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0048487 beta-tubulin binding;GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005819 spindle;GO:0005829 cytosol;GO:0005874 microtubule;GO:0031252 cell leading edge", "go_biological_process": "GO:0021799 cerebral cortex radially oriented cell migration;GO:0007059 chromosome segregation;GO:0016477 cell migration;GO:0030154 cell differentiation;GO:0043547 positive regulation of GTPase activity", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "Q9GZM8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBI0-1", "uniprot_id": [ { "id": "PARVG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBI0", "type": "external" } ], "mass": 37485.0, "length": 331, "protein_name": "Gamma-parvin", "gene_name": "PARVG", "organism": "Human", "refseq_name": "gamma-parvin", "refseq_ac": [ { "id": "NP_001131077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131077", "type": "external" } ], "gene_names_uniprotkb": "PARVG", "gene_names_refseq": "PARVG", "protein_names_uniprotkb": "Gamma-parvin", "protein_names_refseq": "gamma-parvin", "tax_id": 9606, "disease": "", "pathway": " (hsa:64098)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11171322;11237011;11722847;15993274;16517730;18477386;22424782;23481700;24715725;25418920;25576301;25892735;26154972;26375851;26811146;26992070;27846572;27862975;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30524438;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32983136;33141586;33298915;34509645;34932366;35051231;35154160;35580925;36284347;39894887;40914422", "class_list": "", "function": "INI1hSNF5 and PARVG do not seem to be the tumor suppressor genes involved in oligodendroglioma development and progression, [RefSeq, PubMed]; Integrin-linked kinase-gamma-parvin complex is critically involved in the initial integrin signaling for leukocyte migration, [RefSeq, PubMed]; Mammalian parvins are likely to have arisen late in evolution from gene duplication as they share a remarkably similar exon/intron organization., [RefSeq, PubMed]; Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004]., [RefSeq]; Plays a role with ILK in promoting the cell adhesion and spreading of leukocytes., [UniProtKB, 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": 0, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DDW5;E7EVM6;Q9BQX5;Q9NSG1", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007160 cell-matrix adhesion;GO:0030036 actin cytoskeleton organization;GO:0034446 substrate adhesion-dependent cell spreading;GO:0071963 establishment or maintenance of cell polarity regulating cell shape;GO:0030031 cell projection assembly", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9HBI0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13439-1", "uniprot_id": [ { "id": "GOGA4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13439", "type": "external" } ], "mass": 261140.0, "length": 2230, "protein_name": "Golgin subfamily A member 4", "gene_name": "GOLGA4", "organism": "Human", "refseq_name": "golgin subfamily A member 4 isoform 1", "refseq_ac": [ { "id": "NP_001166184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166184", "type": "external" } ], "gene_names_uniprotkb": "GOLGA4", "gene_names_refseq": "CRPF46; GCP2; GOLGA4; GOLG; MU-RMS-40.18; p230", "protein_names_uniprotkb": "Golgin subfamily A member 4; 256 kDa golgin; Golgin-245; Protein 72.1; Trans-Golgi p230", "protein_names_refseq": "256 kDa golgin; 72.1 protein; centrosome-related protein F46; golgi autoantigen, golgin subfamily a, 4; golgin subfamily A member 4 isoform 1; golgin subfamily A member 4; golgin-240; golgin-245; protein 72.1; trans-Golgi p230", "tax_id": 9606, "disease": "", "pathway": " (hsa:2803); (R-HSA-6811440); (R-HSA-9673768)", "pathway_count": 3, "publication_count": 170, "publication_id_list": "10209123;10209125;10445031;10559959;10637310;10812249;10865125;10990452;11237011;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12377769;12620188;12620189;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15265687;15269279;15483056;15654769;15758030;15870108;15878329;16042553;16129887;16571679;16690743;16885419;16912714;16936697;17081983;17322306;17451557;17488291;17562788;17684057;17698061;18195106;18212344;18243103;18256213;18367545;18452278;18664496;18669648;18707149;18767875;18946081;19164740;19413330;19415658;19490898;19620288;19651622;19664994;19664995;19690332;20058876;20068231;20164854;20685960;20889717;21183348;21406692;21421921;21436057;21689688;21807881;22335553;22354037;22424782;22544926;22581368;22717455;23091056;23186163;23301498;23345538;23437303;23481700;24275569;24714562;24715725;24794632;25343031;25505266;25576301;25645385;26154972;26375851;26768311;26992070;27170215;27397612;27600516;27846572;27862975;28010895;28228285;28832583;28834231;28904123;29084197;29242379;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30305446;30336116;30484775;30524438;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34171305;34509645;34697799;34932366;35051231;35318648;35580925;36010968;36215666;36284347;37217939;37938771;7909812;8221884;8440258;8537393;8620540;8626529;8636227;8670882;8962143;9050864;9177194;9230071;9590177", "class_list": "", "function": "CrpF46 regulates cell migration by centrosomal reorientation and altering the function of the actomyosin network by controlling specific phosphorylation of myosin., [RefSeq, PubMed]; Identification of a novel GOLGA4-JAK2 fusion gene in B-cell acute lymphoblastic leukaemia., [RefSeq, PubMed]; Involved in vesicular trafficking at the Golgi apparatus level. May play a role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with MACF1. Involved in endosome-to-Golgi trafficking (PubMed:29084197)., [UniProtKB, PubMed, PubMed]; 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. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]., [RefSeq]; This study provides Class III evidence that elevated cerebrospinal fluid golgin A4 levels identify patients with Alzheimer disease., [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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "F8W8Q7;Q13270;Q13654;Q14436;Q59EW8", "ec_number_list": [], "go_molecular_function": "GO:0051020 GTPase binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0043001 Golgi to plasma membrane protein transport;GO:0045773 positive regulation of axon extension;GO:0048193 Golgi vesicle transport", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "Q13439-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30260-1", "uniprot_id": [ { "id": "CDC27_HUMAN", "url": "https://www.uniprot.org/uniprot/P30260", "type": "external" } ], "mass": 91867.0, "length": 824, "protein_name": "Cell division cycle protein 27 homolog", "gene_name": "CDC27", "organism": "Human", "refseq_name": "cell division cycle protein 27 homolog isoform 1", "refseq_ac": [ { "id": "NP_001107563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107563", "type": "external" } ], "gene_names_uniprotkb": "CDC27; ANAPC3; D0S1430E; D17S978E", "gene_names_refseq": "ANAPC3; APC3; CDC27Hs; CDC27; D0S1430E; D17S978E; H-NUC; HNUC; NUC2", "protein_names_uniprotkb": "Cell division cycle protein 27 homolog; APC3; Anaphase-promoting complex subunit 3; CDC27 homolog; CDC27Hs; H-NUC", "protein_names_refseq": "D0S1430E, D17S978E; anaphase promoting complex subunit 3; anaphase-promoting complex, protein 3; cell division cycle 27 homolog; cell division cycle protein 27 homolog isoform 1; nuc2 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:996); (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": 225, "publication_id_list": "10201372;10318916;10334988;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;16959974;16964243;17187060;17234884;17485488;18267069;18411265;18445686;18446792;18452278;18485873;18555777;18555778;18662542;18669648;18991276;19007248;19028597;19352404;19413330;19452197;19489725;19651622;19690332;19691289;19805069;19851334;19874575;19896182;19940261;20028861;20068231;20112406;20351173;20452968;21209074;21307936;21325273;21670496;2183031;21979375;22084091;22137581;22139841;22178396;22424782;22544926;2261476;22634325;22885700;23186163;23301498;23481700;23603117;23846687;23851460;2405250;24366607;24706756;24715725;25043029;25231993;25880248;26083744;26154972;26222030;26992070;27120157;27249176;27509861;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28904123;29033132;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30429286;30484775;30524438;31217245;31492838;31844290;32119511;32157095;32265295;32350084;32357974;32368092;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35132862;35138101;35418986;35561310;35561648;35580925;36010968;36215666;36241641;36284347;37074911;37938771;38665916;38731925;39531497;40596516;7756179;8234252;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9380723;9635433;9668046;9892021", "class_list": "", "function": "A Novel Gene CDC27 Causes SLE and Is Associated With the Disease Activity. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0000775 promotes the migration, invasion and EMT of hepatic carcinoma cells by recruiting IGF2BP2 to stabilize CDC27., [RefSeq, PubMed]; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex 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. The APC/C complex catalyzes assembly of branched 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on target proteins., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Functional and Genetic Analyses Unveil the Implication of CDC27 in Hemifacial Microsomia. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 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": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 32, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "G3V1C4;Q16349;Q96F35", "ec_number_list": [], "go_molecular_function": "GO:0019903 protein phosphatase binding;GO:0140767 enzyme-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005819 spindle", "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": 23.5, "record_id": "P30260-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TF21-1", "uniprot_id": [ { "id": "ANR24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TF21", "type": "external" } ], "mass": 124187.0, "length": 1146, "protein_name": "Ankyrin repeat domain-containing protein 24", "gene_name": "ANKRD24", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 24 isoform b", "refseq_ac": [ { "id": "NP_597732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_597732", "type": "external" } ], "gene_names_uniprotkb": "ANKRD24; KIAA1981", "gene_names_refseq": "ANKRD24", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 24", "protein_names_refseq": "ankyrin repeat domain-containing protein 24 isoform b; ankyrin repeat domain-containing protein 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:170961)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;18491316;22299025;25502872;25892735;28228285;28904123;31844290;33912179;33981976;35051231;35175278", "class_list": "", "function": "ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points., [RefSeq, PubMed]; Component of the stereocilia rootlet in hair cells of inner ear. Bridges the apical plasma membrane with the lower rootlet and maintains normal distribution of TRIOBP, thereby reinforcing stereocilia insertion points and organizing rootlets for hearing with long-term resilience., [UniProtKB, UniProtKB]", "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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "O75268;O95781", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0032420 stereocilium", "go_biological_process": "GO:0007605 sensory perception of sound;GO:0060088 auditory receptor cell stereocilium organization", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8TF21-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15797-1", "uniprot_id": [ { "id": "SMAD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15797", "type": "external" } ], "mass": 52260.0, "length": 465, "protein_name": "SMAD family member 1", "gene_name": "SMAD1", "organism": "Human", "refseq_name": "SMAD family member 1", "refseq_ac": [ { "id": "NP_001003688", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003688", "type": "external" } ], "gene_names_uniprotkb": "SMAD1; BSP1; MADH1; MADR1", "gene_names_refseq": "BSP-1; BSP1; JV4-1; JV41; MADH1; MADR1; SMAD1", "protein_names_uniprotkb": "SMAD family member 1; BSP-1; JV4-1; MAD homolog 1; Mad-related protein 1; Mothers against DPP homolog 1; Mothers against decapentaplegic homolog 1; SMAD 1; Transforming growth factor-beta-signaling protein 1; hSMAD1", "protein_names_refseq": "MAD, mothers against decapentaplegic homolog 1; Mad-related protein 1; SMAD family member 1; SMAD, mothers against DPP homolog 1; TGF-beta signaling protein 1; mothers against DPP homolog 1; transforming growth factor-beta signaling protein 1", "tax_id": 9606, "disease": "juvenile polyposis syndrome (Disease Ontology:DOID:0050787); nephrotic syndrome (Disease Ontology:DOID:1184); male infertility (Disease Ontology:DOID:12336); glomerulonephritis (Disease Ontology:DOID:2921); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:4086); (R-HSA-201451); (R-HSA-5689880); (R-HSA-8941326); (R-HSA-9733709); (R-HSA-9844594)", "pathway_count": 6, "publication_count": 167, "publication_id_list": "10085121;10444327;10458166;10587654;10647776;10660046;10708948;10708949;10712517;10982817;11016919;11121043;11158580;11237011;11278251;11509558;11566882;11571290;11714695;11779505;11923872;12097147;12151385;12519765;12592392;12821673;12857866;12917689;12917691;14630787;14661020;15053880;15095414;15647271;15916963;16214042;16672363;16901786;16964248;17029022;17068149;17215250;17290220;17292623;17311849;17356069;17443180;17873522;17980597;17981138;18172164;18436795;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19479054;19585539;19651622;19838211;19874889;19910467;19914161;19914168;20068231;20096447;20228808;20368735;20501646;20927330;21239494;21362556;21454478;21571647;21596315;21659512;21685363;21690388;21849505;21898662;21947082;21962518;22029577;22085928;22128162;22216260;22588298;22781750;23150675;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24554596;24664641;24896179;25187301;25197364;25305019;25576301;25578727;25755279;26783251;26992070;27713415;28542453;28834231;29636455;29986870;30315122;30429286;30674353;30779550;30854241;31154438;31217245;31848261;32157095;32161166;32357974;32387766;32897882;32983136;33054971;33392160;33592498;33667543;33691108;33912179;33968037;34171305;34509645;35051231;35561310;35580925;36010968;36241641;36418715;36764297;37743142;37938771;38246328;38703029;7578059;7644468;7791754;8119126;8637600;8653785;8663601;8673135;8774881;8893010;9136927;9335504;9436979;9748228;9759503", "class_list": "", "function": "BMP4-SMAD1/5/9-RUNX2 pathway activation inhibits neurogenesis and oligodendrogenesis in Alzheimer's patients' iPSCs in senescence-related conditions. Erratum:[Stem Cell Reports. 2023 May 9;18(5):1246. doi: 10.1016/j.stemcr.2023.03.017. PMID: 37163982], [RefSeq, PubMed]; Exosomes from human adipose-derived mesenchymal stem cells attenuate localized scleroderma fibrosis by the let-7a-5p/TGF-betaR1/Smad axis., [RefSeq, PubMed]; Long noncoding RNA BMPR1B-AS1 stability regulated by IGF2BP2 affects the decidualization in endometriosis patients through the SMAD1/5/9 pathway., [RefSeq, PubMed]; Lrg1 silencing attenuates ischemia-reperfusion renal injury by regulating autophagy and apoptosis through the TGFbeta1- Smad1/5 signaling pathway., [RefSeq, PubMed]; The Interaction Between SMAD1 and YAP1 Is Correlated with Increased Resistance of Gastric Cancer Cells to Cisplatin., [RefSeq, PubMed]; The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional modulator that plays a role in various cellular processes, including embryonic development, cell differentiation, and tissue homeostasis (PubMed:9335504). Upon BMP ligand binding to their receptors at the cell surface, is phosphorylated by activated type I BMP receptors (BMPRIs) and associates with SMAD4 to form a heteromeric complex which translocates into the nucleus acting as transcription factor (PubMed:33667543). In turn, the hetero-trimeric complex recognizes cis-regulatory elements containing Smad Binding Elements (SBEs) to modulate the outcome of the signaling network (PubMed:33667543). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. Positively regulates BMP4-induced expression of odontogenic development regulator MSX1 following IPO7-mediated nuclear import (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, 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": 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": 38, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8KAJ0;D3DNZ9;Q16636;Q9UFT8", "ec_number_list": [], "go_molecular_function": "GO:0070410 co-SMAD binding;GO:0003700 DNA-binding transcription factor activity;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0071144 heteromeric SMAD protein complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1903672 positive regulation of sprouting angiogenesis;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006954 inflammatory response;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q15797-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4M9-1", "uniprot_id": [ { "id": "EHD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4M9", "type": "external" } ], "mass": 60627.0, "length": 534, "protein_name": "EH domain-containing protein 1", "gene_name": "EHD1", "organism": "Human", "refseq_name": "EH domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001269373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269373", "type": "external" } ], "gene_names_uniprotkb": "EHD1; CDABP0131; PAST1; PAST", "gene_names_refseq": "EHD1; H-PAST; HPAST1; PAST1; PAST", "protein_names_uniprotkb": "EH domain-containing protein 1; PAST homolog 1; Testilin; hPAST1", "protein_names_refseq": "EH domain-containing protein 1 isoform 1; EH domain-containing protein 1; PAST homolog 1; testilin", "tax_id": 9606, "disease": "impotence (Disease Ontology:DOID:1875); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:10938); (R-HSA-983231)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "10395801;11042108;11062261;11237011;11242053;11744692;11751636;11895428;11950885;12032298;12134158;12427746;12665801;15020713;15247287;15592455;15710388;16054028;16251358;1630448;17027967;17196961;17233914;17322306;17899392;18331452;18452278;18669648;18691976;18991276;19293402;19651622;19690332;19864458;20068231;20106972;20530532;20627800;20801876;21406692;218813;22284051;22424782;22544926;23186163;23481700;23596323;24019528;24275569;24714562;24715725;25502872;25576301;25645385;25686250;25810538;26154972;26375851;26758079;26845023;26992070;27397612;27600516;27846572;28218747;28228285;28467828;28832583;28834231;28855257;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30484775;30524438;30573663;30833945;31154438;31217245;31530632;31615969;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;3409321;34185709;34211107;34357683;34405274;34433824;34509645;34932366;35051231;35149593;35154160;35251023;35318648;35561310;35580925;35616188;36010968;36215666;36241641;36284347;37074924;37217939;37474760;38011671;38665916;40914422;8662638;8816476;9065479;9230307;9253601;9326583;9331217;9422515;9927674", "class_list": "", "function": "A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness., [RefSeq, PubMed]; ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes vesiculation of endocytic membranes (PubMed:24019528). Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle (CV), an early step in cilium biogenesis (PubMed:31615969). Proposed to be required for the fusion of distal appendage vesicles (DAVs) to form the CV by recruiting SNARE complex component SNAP29. Is required for recruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67 and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss of CCP110 form the mother centriole essential for the maturation of the basal body during ciliogenesis (PubMed:25686250)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; EHD1 impaired decidualization of endometrial stromal cells in recurrent implantation failure: role of SENP1 in modulating progesterone receptor signallingdagger., [RefSeq, PubMed]; EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole., [RefSeq, PubMed]; EHD1 promotes the cancer stem cell (CSC)-like traits of glioma cells via interacting with CD44 and suppressing CD44 degradation., [RefSeq, PubMed]; EHD1-dependent traffic of IGF-1 receptor to the cell surface is essential for Ewing sarcoma tumorigenesis and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]., [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": 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": 5, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 3, "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": "O14611;Q2M3Q4;Q9UNR3", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005811 lipid droplet;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006897 endocytosis;GO:0010976 positive regulation of neuron projection development;GO:0031175 neuron projection development;GO:0051260 protein homooligomerization", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q9H4M9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95394-1", "uniprot_id": [ { "id": "AGM1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95394", "type": "external" } ], "mass": 59852.0, "length": 542, "protein_name": "Phosphoacetylglucosamine mutase", "gene_name": "PGM3", "organism": "Human", "refseq_name": "phosphoacetylglucosamine mutase isoform 1", "refseq_ac": [ { "id": "NP_001186846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186846", "type": "external" } ], "gene_names_uniprotkb": "PGM3; AGM1", "gene_names_refseq": "AGM1; IMD23; PAGM; PGM 3; PGM3", "protein_names_uniprotkb": "Phosphoacetylglucosamine mutase; 5.4.2.3; Acetylglucosamine phosphomutase; N-acetylglucosamine-phosphate mutase; PAGM; PGM 3; Phosphoglucomutase-3", "protein_names_refseq": "N-acetylglucosamine-phosphate mutase 1; acetylglucosamine phosphomutase; phosphoacetylglucosamine mutase isoform 1; phosphoacetylglucosamine mutase", "tax_id": 9606, "disease": "immunodeficiency 23 (Disease Ontology:DOID:0111953); cancer (Disease Ontology:DOID:162); teratoma (Disease Ontology:DOID:3307); cervical cancer (Disease Ontology:DOID:4362)", "pathway": " (hsa:5238); (R-HSA-446210)", "pathway_count": 2, "publication_count": 84, "publication_id_list": "10198162;10721701;10824116;11004509;11237011;11707391;11726282;12174217;1245758;1460020;14981714;17010375;17322306;18452278;18669648;18675810;19651622;19690332;20068231;20166139;21073341;21310273;22223895;22692205;23186163;23301498;23481700;24275569;24589341;24698316;24931394;25418920;25576301;25645385;25892735;26154972;26482871;26811146;26992070;27600516;27846572;28228285;28446606;28649982;28834231;28904123;29393594;29557506;29632046;29769354;29786170;30315122;30397120;31092671;31154438;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32938616;32983136;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34229054;3500672;35011738;35051231;35251023;35723049;36010968;36241641;36284347;36768728;38665916;9990133", "class_list": "glycogene", "function": "Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients. Publication Status: Online-Only, [RefSeq, PubMed]; PGM(3) is identical to AGM(1)., [RefSeq, PubMed]; PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression., [RefSeq, PubMed]; Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]., [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": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 659, "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": "B2RB65;B4DX94;D6RF12;E1P547;E9PF86;Q5JWR4;Q96J46;Q9H8G5;Q9NS94;Q9NTT6;Q9UFV5;Q9UIY2", "ec_number_list": [ { "id": "5.4.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.3", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004610 phosphoacetylglucosamine mutase activity;GO:0016868 intramolecular phosphotransferase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006493 protein O-linked glycosylation;GO:0030097 hemopoiesis;GO:0006487 protein N-linked glycosylation;GO:0006041 glucosamine metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "O95394-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15475-1", "uniprot_id": [ { "id": "SIX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15475", "type": "external" } ], "mass": 32210.0, "length": 284, "protein_name": "Homeobox protein SIX1", "gene_name": "SIX1", "organism": "Human", "refseq_name": "homeobox protein SIX1 isoform 1", "refseq_ac": [ { "id": "NP_005973", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005973", "type": "external" } ], "gene_names_uniprotkb": "SIX1", "gene_names_refseq": "BOS3; DFNA23; SIX1; TIP39", "protein_names_uniprotkb": "Homeobox protein SIX1; Sine oculis homeobox homolog 1", "protein_names_refseq": "homeobox protein SIX1 isoform 1; homeobox protein SIX1; sine oculis homeobox homolog 1", "tax_id": 9606, "disease": "branchiootic syndrome 3 (Disease Ontology:DOID:0061210); autosomal dominant nonsyndromic deafness 23 (Disease Ontology:DOID:0110553); branchiootorenal syndrome (Disease Ontology:DOID:14702); breast cancer (Disease Ontology:DOID:1612); nephroblastoma (Disease Ontology:DOID:2154); neurilemmoma (Disease Ontology:DOID:3192); ovarian carcinoma (Disease Ontology:DOID:4001); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:6495); (R-HSA-9830674)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10801845;11237011;15123840;15141091;17130831;17637804;18330911;19497856;21280147;23435380;25576301;26235987;27846572;27923061;28832583;29242379;29393594;29485866;30429286;30484775;31844290;31848261;32387766;32488085;32863962;33968037;35561310;36215666;37217939;37815464;38031089;38636894;39174859;8617500", "class_list": "", "function": "Altered binding affinity of SIX1-Q177R correlates with enhanced WNT5A and WNT pathway effector expression in Wilms tumor., [RefSeq, PubMed]; BCLAF1 drives esophageal squamous cell carcinoma progression through regulation of YTHDF2-dependent SIX1 mRNA degradation., [RefSeq, PubMed]; Cooperation between SIX1 and DHX9 transcriptionally regulates integrin-focal adhesion signaling mediated metastasis and sunitinib resistance in KIRC., [RefSeq, PubMed]; SIX1 amplification modulates stemness and tumorigenesis in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development (By similarity). Plays an important role in the development of several organs, including kidney, muscle and inner ear (By similarity). Depending on context, functions as a transcriptional repressor or activator (By similarity). Lacks an activation domain, and requires interaction with EYA family members for transcription activation (PubMed:15141091). Mediates nuclear translocation of EYA1 and EYA2 (PubMed:19497856). Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter and CIDEA enhancer (PubMed:15141091, PubMed:19497856, PubMed:23435380, PubMed:27923061). Regulates the expression of numerous genes, including MYC, CCND1 and EZR (By similarity). Acts as an activator of the IGFBP5 promoter, probably coactivated by EYA2 (By similarity). Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex (By similarity). During myogenesis, seems to act together with EYA2 and DACH2 (By similarity). Regulates the expression of CCNA1 (PubMed:15123840). Promotes brown adipocyte differentiation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53Y16;Q96H64", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor 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:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0030878 thyroid gland development;GO:0001759 organ induction;GO:0050678 regulation of epithelial cell proliferation;GO:0086100 endothelin receptor signaling pathway;GO:0061055 myotome development", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q15475-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15046-1", "uniprot_id": [ { "id": "SYK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15046", "type": "external" } ], "mass": 68048.0, "length": 597, "protein_name": "Lysine--tRNA ligase", "gene_name": "KARS1", "organism": "Human", "refseq_name": "lysine--tRNA ligase isoform 1", "refseq_ac": [ { "id": "NP_001123561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123561", "type": "external" } ], "gene_names_uniprotkb": "KARS1; KARS; KIAA0070", "gene_names_refseq": "CMTRIB; DEAPLE; DFNB89; KARS1; KARS2; KARS; KRS; LEPID", "protein_names_uniprotkb": "Lysine--tRNA ligase; 2.7.7.-; 6.1.1.6; LysRS; Lysyl-tRNA synthetase", "protein_names_refseq": "lysRS; lysine tRNA ligase; lysine--tRNA ligase isoform 1", "tax_id": 9606, "disease": "hypomyelinating leukoencephalopathy (Disease Ontology:DOID:0050987); Charcot-Marie-Tooth disease recessive intermediate B (Disease Ontology:DOID:0110204); autosomal recessive nonsyndromic deafness 89 (Disease Ontology:DOID:0110534); sciatic neuropathy (Disease Ontology:DOID:11446); leukoencephalopathy, progressive, infantile-onset, with or without deafness (MONDO:MONDO:0030893); deafness, congenital, and adult-onset progressive leukoencephalopathy (MONDO:MONDO:0030967)", "pathway": " (hsa:3735); (R-HSA-2408522); (R-HSA-379716); (R-HSA-379726); (R-HSA-9856649)", "pathway_count": 5, "publication_count": 227, "publication_id_list": "10329163;10567402;10611221;10655586;10673502;10684970;10764807;10828066;10952987;11027551;11237011;11347887;11714285;11829477;11840323;11858721;11891324;11912130;11930005;12690580;12756246;1373391;14659874;14660560;14671330;14975237;15118077;15220430;15226305;15274629;15507434;15779907;15851690;16014379;16034366;16055448;16300924;16429158;16661668;16661782;16822840;16906134;1698554;17384640;1748288;1761529;17623675;17847012;18029264;18272479;18644867;19131329;19289464;19413330;19524539;19608861;20305658;20460180;20920668;21486943;21740066;21965087;22223895;22424782;22544926;22645359;22647378;23159739;23190890;23207919;23481700;23768514;24029068;24312579;24366607;24715725;25248477;25330800;25418920;25576301;25595898;25645385;25880248;25892735;26074468;26154972;26375851;26758079;26768311;26811146;26992070;27128622;27543614;27600516;27846572;27862975;27891585;27920218;28063628;28218747;28228285;28394346;28489076;28514659;28649982;28814526;28832583;28834231;28887846;28904123;29029422;29242379;29295999;29314611;29351928;29393594;29437277;29493099;29508533;29557506;29615062;29632046;29632711;29786170;30252186;30315122;30410026;30429286;30524438;30546840;30573663;30715177;30737337;30779550;30804224;31020640;31116475;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32636443;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33744299;33912179;33936100;33968037;33981976;34087483;34140478;34171305;34211107;34357683;34405274;34509645;34725712;35008409;35051231;35154160;35251023;35561310;35580925;35912727;36010968;36215666;36241641;36284347;37770430;37770806;37933844;37938771;38665916;38878758;40596516;40914422;4130389;5338216;6022858;656444;7118399;7654687;7755634;7958932;8052601;8078941;8188258;8336698;8428657;8449960;9199364;9278442;9353119;9421509;9431993;9440696;9466989;9560246;9676189;9760192;9878398;9973413", "class_list": "", "function": "(Microbial infection) Interacts with HIV-1 virus GAG protein, facilitating the selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation., [UniProtKB, PubMed]; Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Antibody Deficiency in Patients with Biallelic KARS1 Mutations. Erratum:[J Clin Immunol. 2023 Nov;43(8):2126. doi: 10.1007/s10875-023-01600-w. PMID: 37921915], [RefSeq, PubMed]; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (PubMed:18029264, PubMed:18272479, PubMed:9278442). When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages (PubMed:15851690). Catalyzes the synthesis of the signaling molecule diadenosine tetraphosphate (Ap4A), and thereby mediates disruption of the complex between HINT1 and MITF and the concomitant activation of MITF transcriptional activity (PubMed:14975237, PubMed:19524539, PubMed:23159739, PubMed:5338216)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Changes in subcellular localization of Lysyl-tRNA synthetase and the 67-kDa laminin receptor in epithelial ovarian cancer metastases., [RefSeq, PubMed]; Determinants of the interaction between the 5'-leader of HIV-1 genome and human lysyl-tRNA synthetase in reverse transcription primer release process., [RefSeq, PubMed]; Human lysyl-tRNA synthetase phosphorylation promotes HIV-1 proviral DNA transcription., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MSK1;D3DUK4;O14946;Q96J25;Q9HB23", "ec_number_list": [ { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "6.1.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.12", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "6.1.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.18", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.9.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.-", "type": "external" }, { "id": "6.1.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.19", "type": "external" }, { "id": "6.1.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.10", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "6.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.6", "type": "external" }, { "id": "6.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.4", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0016597 amino acid binding;GO:0000049 tRNA binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0043032 positive regulation of macrophage activation;GO:0015966 diadenosine tetraphosphate biosynthetic process;GO:0008033 tRNA processing;GO:0045893 positive regulation of DNA-templated transcription;GO:0006418 tRNA aminoacylation for protein translation", "synthesized_glycan_count": 0, "hit_score": 23.1, "record_id": "Q15046-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13895-1", "uniprot_id": [ { "id": "BYST_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13895", "type": "external" } ], "mass": 49601.0, "length": 437, "protein_name": "Bystin", "gene_name": "BYSL", "organism": "Human", "refseq_name": "bystin", "refseq_ac": [ { "id": "NP_004044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004044", "type": "external" } ], "gene_names_uniprotkb": "BYSL; ENP1", "gene_names_refseq": "BYSL; BYSTIN; Enp1", "protein_names_uniprotkb": "Bystin", "protein_names_refseq": "by the ribosomal protein s6 gene, drosophila, homolog-like; bystin", "tax_id": 9606, "disease": "", "pathway": " (hsa:705); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 114, "publication_id_list": "11237011;11922599;12068309;12150911;16037817;16043514;16738141;17081983;17189298;17322306;17353269;17360433;17381424;17412707;18065403;18318008;18438418;18452278;18669648;18691976;18767875;19007248;19106111;19332556;19413330;19415658;19564402;19651622;19664995;19690332;19691289;19801658;20038530;20056613;20058876;20068231;20166139;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21406692;22072790;22190735;22195017;22916032;23186163;23439679;23482395;2388630;24129315;24366607;24424021;24550520;24715725;25525153;25576301;25969445;26154972;26237581;26711351;26992070;27846572;27920218;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29557506;29786170;29789417;30315122;30429286;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32897882;32938616;33214551;33691108;33912179;33968037;34019948;34087483;34171305;34509645;34561969;34797290;35051231;35561310;35580925;36010968;36241641;37938771;38980088;40914422;9482744;9560222", "class_list": "", "function": "Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008]., [RefSeq]; DDX10 and BYSL as the potential targets of chondrosarcoma and glioma., [RefSeq, PubMed]; Increased Expression and Prognostic Significance of BYSL in Melanoma., [RefSeq, PubMed]; Required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits. May be required for trophinin-dependent regulation of cell adhesion during implantation of human embryos., [UniProtKB, PubMed, 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "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": "Q6P5W4;Q86W44;Q96IP8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0030515 snoRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0042254 ribosome biogenesis;GO:0006364 rRNA processing;GO:1904749 regulation of protein localization to nucleolus", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q13895-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N684-1", "uniprot_id": [ { "id": "CPSF7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N684", "type": "external" } ], "mass": 52050.0, "length": 471, "protein_name": "Cleavage and polyadenylation specificity factor subunit 7", "gene_name": "CPSF7", "organism": "Human", "refseq_name": "cleavage and polyadenylation specificity factor subunit 7 isoform 2", "refseq_ac": [ { "id": "NP_001129512", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129512", "type": "external" } ], "gene_names_uniprotkb": "CPSF7", "gene_names_refseq": "CFIm59; CPSF7", "protein_names_uniprotkb": "Cleavage and polyadenylation specificity factor subunit 7; CFIm59; CPSF 59 kDa subunit; Cleavage and polyadenylation specificity factor 59 kDa subunit; Cleavage factor Im complex 59 kDa subunit; Pre-mRNA cleavage factor Im 59 kDa subunit", "protein_names_refseq": "CPSF 59 kDa subunit; cleavage and polyadenylation specificity factor 59 kDa subunit; cleavage and polyadenylation specificity factor subunit 7 isoform 2; cleavage and polyadenylation specificity factor subunit 7; cleavage factor Im complex 59 kDa subunit; pre-mRNA cleavage factor I, 59 kDa subunit; pre-mRNA cleavage factor Im 59 kDa subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:79869); (R-HSA-72187); (R-HSA-73856); (R-HSA-77595); (R-HSA-9013422); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 146, "publication_id_list": "10669729;11060040;11237011;11747608;11979277;12871933;14519844;14749727;14762106;15037765;15084397;15144186;15565158;15998806;16964243;17024186;17081983;17128255;17190602;17984224;18288197;18411249;18669648;18835386;18957205;19217410;19690332;19836239;19864460;20562214;20573985;20695905;20844015;21295486;21911577;21947206;22207203;22813749;22928037;23186163;23187700;23222130;23299939;23874216;24076191;24149845;24244187;24275569;24397554;24608665;24714562;25301780;25301781;25576301;25645385;25662211;25810538;25836925;26092250;26154972;26728094;26811146;26992070;27108190;27314390;27543614;27600516;27846572;27862975;27920218;28096519;28218747;28411811;28510447;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29276085;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29902443;30139799;30257008;30315122;30599162;30779550;30896450;31154438;31431478;31492838;31837982;31844290;31848261;31871319;32119511;32161166;32350084;32357974;32488085;32502341;32816001;32938616;32983136;33177556;33214551;33298915;33392160;33592498;33912179;33968037;34019948;34171305;34185709;34561969;34725712;34846842;35008409;35051231;35138101;35177536;35215846;35251023;35254053;35318648;35580925;36010968;36284347;36580660;37938771;38665916;40596516;40914422;8626397;9659921", "class_list": "", "function": "CPSF7 promoted WWP2-FL due to the presence of PTEN ubiquitination sites in this longer transcript and regulates liver cancer growth by targeting WWP2-FL that in turn regulates AKT activation in a PTEN-dependent manner., [RefSeq, PubMed]; Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as a heterotetramer, with a dimer of the 25 kDa subunit binding to two of the 59 or 68 kDa subunits. The protein encoded by this gene represents the 59 kDa subunit, which can interact with the splicing factor U2 snRNP Auxiliary Factor (U2AF) 65 to link the splicing and polyadenylation complexes. [provided by RefSeq, Oct 2016]., [RefSeq]; 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. 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). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation. 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. CPSF7 activates directly the mRNA 3'-processing machinery. Binds to pA signals in RNA substrates., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Data provide evidence that CFIm exists as a heterotetramer of 25-kD, 59-kD and 68-kD subunits of CFIm: CFIm25, CFIm59 and CFIm68., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "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": "B3KU04;C9K0Q4;Q7Z3H9;Q9H025;Q9H9V1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0051262 protein tetramerization;GO:0051290 protein heterotetramerization;GO:0031124 mRNA 3'-end processing;GO:0110104 mRNA alternative polyadenylation;GO:0180010 co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q8N684-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00738-1", "uniprot_id": [ { "id": "HPT_HUMAN", "url": "https://www.uniprot.org/uniprot/P00738", "type": "external" } ], "mass": 45205.0, "length": 406, "protein_name": "Haptoglobin", "gene_name": "HP", "organism": "Human", "refseq_name": "haptoglobin isoform 2 preproprotein", "refseq_ac": [ { "id": "NP_001119574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119574", "type": "external" } ], "gene_names_uniprotkb": "HP", "gene_names_refseq": "HP2ALPHA2; HPA1S; HP", "protein_names_uniprotkb": "Haptoglobin; Zonulin", "protein_names_refseq": "haptoglobin alpha(1S)-beta; haptoglobin alpha(2FS)-beta; haptoglobin isoform 2 preproprotein; haptoglobin, alpha polypeptide; haptoglobin, beta polypeptide; zonulin", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); hepatocellular adenoma (Disease Ontology:DOID:0050868); stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); alpha thalassemia (Disease Ontology:DOID:1099); sarcoidosis (Disease Ontology:DOID:11335); iron deficiency anemia (Disease Ontology:DOID:11758); beta thalassemia (Disease Ontology:DOID:12241); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); cardiovascular system disease (Disease Ontology:DOID:1287); dilated cardiomyopathy (Disease Ontology:DOID:12930); gout (Disease Ontology:DOID:13189); lung cancer (Disease Ontology:DOID:1324); Kawasaki disease (Disease Ontology:DOID:13378); cholestasis (Disease Ontology:DOID:13580); Plasmodium falciparum malaria (Disease Ontology:DOID:14067); atherosclerosis (Disease Ontology:DOID:1936); hyperinsulinism (Disease Ontology:DOID:2018); arteriosclerosis (Disease Ontology:DOID:2349); asthma (Disease Ontology:DOID:2841); severe acute respiratory syndrome (Disease Ontology:DOID:2945); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); middle cerebral artery infarction (Disease Ontology:DOID:3525); hyperglycemia (Disease Ontology:DOID:4195); liver cirrhosis (Disease Ontology:DOID:5082); hemolytic anemia (Disease Ontology:DOID:583); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic kidney disease (Disease Ontology:DOID:784); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary embolism (Disease Ontology:DOID:9477); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); anhaptoglobinemia (MONDO:MONDO:0013564)", "pathway": " (hsa:3240); (R-HSA-2168880); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 124, "publication_id_list": "37268159;1008494;10381560;11196644;11237011;11877257;1252417;12754519;13342742;13472068;14760718;1478675;14999562;15448162;15542058;15697213;15947085;16046400;16189277;16335952;1646599;16740002;16778136;17008602;17102136;17803183;17845074;18214858;18514042;18556779;19139490;19159218;19324878;19650691;19659435;19714880;19805376;19838169;20430887;20920479;21081667;21248165;21692080;21780104;22492620;22905912;22922649;23650620;23829323;24103369;24279413;24530628;24583194;24841998;25265424;26869352;27648369;27726376;27862975;2806549;2833500;29391424;29557506;29580922;29632711;29671580;29741879;2987228;29992770;30237853;30370771;30459171;31014754;31142615;31154438;31737099;31844290;32125861;32157095;32412768;32983136;33968037;34171305;34207451;34436504;34725484;34932366;35051231;3519135;35289036;35318648;35580925;35811936;36284347;36324280;37074911;38069244;38219978;38402172;38815898;3891754;4018023;4074707;4327491;4573324;496916;5135507;6310515;6310599;6325933;6330675;6480598;6546723;6688992;6849882;6997877;7263686;7287740;7378053;7637327;8424694;8692836;8855948;971416", "class_list": "", "function": "Antimicrobial protein, zonulin, has antibacterial activity and functions in regulation of intestinal barrier function. Review article, [RefSeq, PubMed]; As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine. Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent kidney damage. Haptoglobin also acts as an antioxidant, has antibacterial activity, and plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidly cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal degradation pathway., [UniProtKB, PubMed]; Differential expression of haptoglobin in individuals at clinical high risk of psychosis and its association with global functioning and clinical symptoms., [RefSeq, PubMed]; Potential applications of dual haptoglobin expression in the reclassification and treatment of hepatocellular carcinoma., [RefSeq, PubMed]; The Haptoglobin Response after Aneurysmal Subarachnoid Haemorrhage. Publication Status: Online-Only, [RefSeq, PubMed]; The uncleaved form of allele alpha-2 (2-2), known as zonulin, plays a role in intestinal permeability, allowing intercellular tight junction disassembly, and controlling the equilibrium between tolerance and immunity to non-self antigens., [UniProtKB, PubMed]; This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. The protein encoded also exhibits antimicrobial activity against bacteria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]., [RefSeq]; Zonulin and copeptin relation to some metabolic markers in school-aged obese children. 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": 5, "mined_n_glycosites": 5, "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": 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": 5, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 302, "disease_count": 43, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B0AZL5;P00737;Q0VAC4;Q0VAC5;Q2PP15;Q3B7J0;Q6LBY9;Q9UC67", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0016209 antioxidant activity;GO:0030492 hemoglobin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0072562 blood microparticle;GO:0035580 specific granule lumen", "go_biological_process": "GO:2000296 negative regulation of hydrogen peroxide catabolic process;GO:0006952 defense response;GO:0006954 inflammatory response;GO:0006953 acute-phase response;GO:0042542 response to hydrogen peroxide", "synthesized_glycan_count": 0, "hit_score": 43.3, "record_id": "P00738-1", "record_type": "protein", "filter_code": "1000000.1000111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTU3-1", "uniprot_id": [ { "id": "OLIG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTU3", "type": "external" } ], "mass": 29358.0, "length": 272, "protein_name": "Oligodendrocyte transcription factor 3", "gene_name": "OLIG3", "organism": "Human", "refseq_name": "oligodendrocyte transcription factor 3", "refseq_ac": [ { "id": "NP_786923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_786923", "type": "external" } ], "gene_names_uniprotkb": "OLIG3; BHLHB7; BHLHE20", "gene_names_refseq": "Bhlhb7; OLIG3; bHLHe20", "protein_names_uniprotkb": "Oligodendrocyte transcription factor 3; Class B basic helix-loop-helix protein 7; Class E basic helix-loop-helix protein 20; Oligo3; bHLHb7; bHLHe20", "protein_names_refseq": "class B basic helix-loop-helix protein 7; class E basic helix-loop-helix protein 20; oligo3; oligodendrocyte transcription factor 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:167826)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "14516699;20353580;20921970;23481700;28411811;28832583;29242379;30157244;31154438;32897882;34019948;35051231", "class_list": "", "function": "May determine the distinct specification program of class A neurons in the dorsal part of the spinal cord and suppress specification of class B neurons., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SNP within the OLIG3/TNFAIP3 locus (rs6920220) was associated with being less likely to maintain MTX monotherapy GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Two identified variants revealed novel candidate genes for hip and knee osteoarthritis. OLIG3 and FIP1L1 have specific roles in transcription and may effect expression of other genes. Identified variants in these genes may thus have a role in the regulatory events leading to osteoarthritis. 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, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "Q8N8Q0", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0070888 E-box binding;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:0045944 positive regulation of transcription by RNA polymerase II;GO:0061564 axon development;GO:0007423 sensory organ development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q7RTU3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25788-1", "uniprot_id": [ { "id": "PSA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P25788", "type": "external" } ], "mass": 28433.0, "length": 255, "protein_name": "Proteasome subunit alpha type-3", "gene_name": "PSMA3", "organism": "Human", "refseq_name": "proteasome subunit alpha type-3 isoform 1", "refseq_ac": [ { "id": "NP_002779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002779", "type": "external" } ], "gene_names_uniprotkb": "PSMA3; HC8; PSC8", "gene_names_refseq": "HC8; PSC3; PSMA3", "protein_names_uniprotkb": "Proteasome subunit alpha type-3; Macropain subunit C8; Multicatalytic endopeptidase complex subunit C8; Proteasome component C8; Proteasome subunit alpha-7; alpha-7", "protein_names_refseq": "alpha-7; macropain subunit C8; multicatalytic endopeptidase complex subunit C8; proteasome (prosome, macropain) subunit, alpha type, 3; proteasome component C8; proteasome subunit C8; proteasome subunit alpha 3; proteasome subunit alpha type-3 isoform 1; proteasome subunit alpha type-3; proteasome subunit alpha-7; proteasome subunit alpha7; testicular secretory protein Li 43", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:5684); (R-HSA-1169091); (R-HSA-1234176); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-180534); (R-HSA-180585); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-211733); (R-HSA-2467813); (R-HSA-2871837); (R-HSA-349425); (R-HSA-350562); (R-HSA-382556); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69481); (R-HSA-69601); (R-HSA-75815); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9912633); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1096, "publication_id_list": 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"class_list": "", "function": "Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Binds to the C-terminus of CDKN1A and thereby mediates its degradation. Negatively regulates the membrane trafficking of the cell-surface thromboxane A2 receptor (TBXA2R) isoform 2., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; 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 peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [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, "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RCK6;Q86U83;Q8N1D8;Q9BS70", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0034515 proteasome storage granule;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045061 thymic T cell selection;GO:0045063 T-helper 1 cell differentiation;GO:0071357 cellular response to type I interferon;GO:0043374 CD8-positive, alpha-beta T cell differentiation;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 110.1, "record_id": "P25788-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9G7-1", "uniprot_id": [ { "id": "AGO3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9G7", "type": "external" } ], "mass": 97360.0, "length": 860, "protein_name": "Protein argonaute-3", "gene_name": "AGO3", "organism": "Human", "refseq_name": "protein argonaute-3 isoform a", "refseq_ac": [ { "id": "NP_079128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079128", "type": "external" } ], "gene_names_uniprotkb": "AGO3; EIF2C3", "gene_names_refseq": "AGO3; EIF2C3", "protein_names_uniprotkb": "Protein argonaute-3; 3.1.26.n2; Argonaute RISC catalytic component 3; Argonaute3; Eukaryotic translation initiation factor 2C 3; eIF-2C 3; eIF2C 3; hAgo3", "protein_names_refseq": "argonaute 3, RISC catalytic component; eukaryotic translation initiation factor 2C, 3; hAgo3; protein argonaute-3 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:192669); (R-HSA-165159); (R-HSA-1912408); (R-HSA-203927); (R-HSA-2559580); (R-HSA-2559585); (R-HSA-4086398); (R-HSA-426486); (R-HSA-426496); (R-HSA-5628897); (R-HSA-5687128); (R-HSA-8853884); (R-HSA-8934593); (R-HSA-8936459); (R-HSA-8943723); (R-HSA-8948700); (R-HSA-8948747); (R-HSA-8986944); (R-HSA-9018519); (R-HSA-9022692); (R-HSA-9029569); (R-HSA-9725371); (R-HSA-9759811); (R-HSA-9764562); (R-HSA-9768778); (R-HSA-9824594); (R-HSA-9839394); (R-HSA-9909620)", "pathway_count": 28, "publication_count": 652, "publication_id_list": 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"class_list": "", "function": "Argonaute 3 (AGO3) promotes malignancy potential of cervical cancer via regulation of Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; Data show that recombinant AGO3 loaded with miR-20a cleaves complementary target RNAs., [RefSeq, PubMed]; Human Argonaute2 and Argonaute3 are catalytically activated by different lengths of guide RNA., [RefSeq, PubMed]; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Proposed to be involved in stabilization of small RNA derivates (siRNA) derived from processed RNA polymerase III-transcribed Alu repeats containing a DR2 retinoic acid response element (RARE) in stem cells and in the subsequent siRNA-dependent degradation of a subset of RNA polymerase II-transcribed coding mRNAs by recruiting a mRNA decapping complex involving EDC4. Possesses RNA slicer activity but only on select RNAs bearing 5'- and 3'-flanking sequences to the region of guide-target complementarity (PubMed:29040713)., [UniProtKB, PubMed, HAMAP, PubMed, PubMed]; The specificity of RNA interference depends on the concentration of Ago1, Ago3, and Ago4 relative to Ago2., [RefSeq, PubMed]; This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [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, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B1ALI0;Q5TA55;Q9H1U6", "ec_number_list": [ { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.37", "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": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "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": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "id": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.26.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0003725 double-stranded RNA binding;GO:0003727 single-stranded RNA binding;GO:0035198 miRNA binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0070922 RISC complex assembly;GO:0010628 positive regulation of gene expression;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0006402 mRNA catabolic process;GO:0031054 pre-miRNA processing", "synthesized_glycan_count": 0, "hit_score": 65.6, "record_id": "Q9H9G7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14790-1", "uniprot_id": [ { "id": "CASP8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14790", "type": "external" } ], "mass": 55391.0, "length": 479, "protein_name": "Caspase-8", "gene_name": "CASP8", "organism": "Human", "refseq_name": "caspase-8 isoform 3", "refseq_ac": [ { "id": "NP_001073593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073593", "type": "external" } ], "gene_names_uniprotkb": "CASP8; MCH5", "gene_names_refseq": "ALPS2B; CAP4; CASP8; Casp-8; FLICE; MACH; MCH5", "protein_names_uniprotkb": "Caspase-8; 3.4.22.61; Apoptotic cysteine protease; Apoptotic protease Mch-5; CAP4; CASP-8; FADD-homologous ICE/ced-3-like protease; FADD-like ICE; FLICE; ICE-like apoptotic protease 5; MACH; MORT1-associated ced-3 homolog", "protein_names_refseq": "FADD-homologous ICE/CED-3-like protease; FADD-like ICE; ICE-like apoptotic protease 5; MACH-alpha-1/2/3 protein; MACH-beta-1/2/3/4 protein; MORT1-associated ced-3 homolog; apoptotic cysteine protease; apoptotic protease Mch-5; caspase 8, apoptosis-related cysteine peptidase; caspase 8, apoptosis-related cysteine protease; caspase-8 isoform 3", "tax_id": 9606, "disease": "pre-malignant neoplasm (Disease Ontology:DOID:0060071); traumatic brain injury (Disease Ontology:DOID:0081292); autoimmune lymphoproliferative syndrome type 2B (Disease Ontology:DOID:0110116); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); nephritis (Disease Ontology:DOID:10952); heart disease (Disease Ontology:DOID:114); sciatic neuropathy (Disease Ontology:DOID:11446); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); Huntington's disease (Disease Ontology:DOID:12858); dilated cardiomyopathy (Disease Ontology:DOID:12930); lung cancer (Disease Ontology:DOID:1324); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); autoimmune disease (Disease Ontology:DOID:417); esophagus adenocarcinoma (Disease Ontology:DOID:4914); retinal detachment (Disease Ontology:DOID:5327); kidney disease (Disease Ontology:DOID:557); primary immunodeficiency disease (Disease Ontology:DOID:612); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:841); (R-HSA-111465); (R-HSA-140534); (R-HSA-168638); (R-HSA-2562578); (R-HSA-264870); (R-HSA-3371378); (R-HSA-5213460); (R-HSA-5218900); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5660668); (R-HSA-5675482); (R-HSA-69416); (R-HSA-75108); (R-HSA-75153); (R-HSA-75157); (R-HSA-75158); (R-HSA-9013957); (R-HSA-933543); (R-HSA-9686347); (R-HSA-9693928); (R-HSA-9758274)", "pathway_count": 23, "publication_count": 330, "publication_id_list": "10200466;10224040;10329646;10442631;10453075;10469173;10490026;10508784;10508785;10521396;10564664;10702308;10823823;10837247;10860845;10891503;10894160;10899937;11002417;11087742;11098060;11099414;11106668;11114298;11161814;11181075;11237011;11278797;11313965;11384965;11423904;11427719;11460167;11463813;11463840;11577081;11689006;11717445;11741893;11917123;12010809;12107159;12107169;12167698;12181749;12197899;12198154;12215447;12353035;12514169;12527755;12620239;12620240;12646168;12668660;12709429;12721308;12752666;12791997;12796777;12804595;12884866;12887920;12912912;12917691;14514672;14633987;14716293;14739303;14759258;14970175;15024054;15069192;15254227;15258597;15289496;15327770;15389287;15509781;15592455;15592525;15601643;15620648;1574116;15760909;15814722;15870263;16123041;16127453;16282325;16378960;16585540;16618810;16619028;16682944;16829951;16829952;16916640;16983089;17047224;17245429;17293864;17297457;17303577;17314102;17327223;17450141;17496917;17525332;17562858;17644308;17702576;18079694;18089778;18178551;18190721;18216014;18256533;18485876;18563783;18570872;18761323;18838202;18846110;19278658;19289468;19372376;19416807;19524512;19524513;19535145;19683492;19851329;19910467;20068231;20185725;20218968;20219915;20300203;20304918;20308068;20385093;20434986;20696707;20852190;20937773;20951169;21183680;21235526;21408173;21703539;21737329;21737330;22123964;22179575;22265413;22267217;22297296;22421439;22421964;22435550;22817896;22848449;22858542;23313255;23516580;23746843;24059293;24098568;24100030;24246475;24316671;24323043;24342355;24556848;24703947;24726323;24726327;24813885;25505266;25565632;25674983;25790448;25852146;25996294;26036637;26154972;26240016;26344099;26559832;26620909;26775703;26811146;26866270;26900751;26933192;26992070;26997266;27109099;27195913;27307491;27325299;27426725;27432652;27458237;27462786;27545878;27552911;27591049;27600516;27821809;27846572;27920218;28218747;28228285;28405521;28506461;28514659;28602583;28661484;28832583;28920952;28920954;29242379;29393594;29437277;29557506;29632046;29632711;29642005;29681455;29883609;29883610;29930286;30146158;30185776;30315122;30361438;30410026;30420664;30429286;30501030;30524438;30770249;30988283;31031142;31138766;31358971;31366726;31511692;31530632;31826938;31827280;31827281;31844290;31848261;31937595;31998317;32157095;32265295;32269263;32320653;32357974;32387766;32488085;32502341;32561730;32690704;32929201;32938616;32983136;33392160;33469115;33633747;33654074;33717175;33968037;34012073;34162724;34357683;34363755;34367939;34509645;34876703;34999730;35051231;35338844;35446120;35580925;35941131;36010968;36284347;36460775;38372637;38678786;38710704;39038402;40914422;7489707;7530336;7531702;7536190;7667287;8521815;8681376;8681377;8755496;8777713;8962078;8976194;9006941;9049422;9065443;9082980;9184224;9228018;9252332;9311998;9323209;9325343;9334338;9430721;9431985;9624143;9721089;9744859;9880531;9930654;9931493;9973322", "class_list": "", "function": "Deciphering DED assembly mechanisms in FADD-procaspase-8-cFLIP complexes regulating apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Includes the study of a polymorphic upstream ORF in this gene, and shows that it functions to reduce protein levels by ~31%, [RefSeq, PubMed]; Investigation of the association between the CASP8rs1045485 and SOD2 rs4880 single nucleotide polymorphisms (SNPs) with breast cancer., [RefSeq, PubMed]; Lacks the catalytic site and may interfere with the pro-apoptotic activity of the complex (Probable). Acts as an inhibitor of the caspase cascade (PubMed:12010809)., [UniProtKB, PubMed, PubMed]; Lacks the catalytic site and may interfere with the pro-apoptotic activity of the complex., [UniProtKB, PubMed]; NBR1-mediated autophagic degradation of caspase 8 protects vascular endothelial cells against arsenite-induced apoptotic cell death., [RefSeq, PubMed]; Role for Caspase-8 in the Release of IL-1beta and Active Caspase-1 from Viable Human Monocytes during Toxoplasma gondii Infection., [RefSeq, PubMed]; Thiol protease that plays a key role in programmed cell death by acting as a molecular switch for apoptosis, necroptosis and pyroptosis, and is required to prevent tissue damage during embryonic development and adulthood (PubMed:23516580, PubMed:35338844, PubMed:35446120, PubMed:8681376, PubMed:8681377, PubMed:8962078, PubMed:9006941, PubMed:9184224). Initiator protease that induces extrinsic apoptosis by mediating cleavage and activation of effector caspases responsible for FAS/CD95-mediated and TNFRSF1A-induced cell death (PubMed:23516580, PubMed:35338844, PubMed:35446120, PubMed:8681376, PubMed:8681377, PubMed:8962078, PubMed:9006941, PubMed:9184224). Cleaves and activates effector caspases CASP3, CASP4, CASP6, CASP7, CASP9 and CASP10 (PubMed:16916640, PubMed:8962078, PubMed:9006941). Binding to the adapter molecule FADD recruits it to either receptor FAS/TNFRSF6 or TNFRSF1A (PubMed:8681376, PubMed:8681377). The resulting aggregate called the death-inducing signaling complex (DISC) performs CASP8 proteolytic activation (PubMed:9184224). The active dimeric enzyme is then liberated from the DISC and free to activate downstream apoptotic proteases (PubMed:9184224). Proteolytic fragments of the N-terminal propeptide (termed CAP3, CAP5 and CAP6) are likely retained in the DISC (PubMed:9184224). Also cleaves and activates BID, thereby promoting cytochrome C release from mitochrondria (By similarity). In addition to extrinsic apoptosis, also acts as a negative regulator of necroptosis: acts by cleaving RIPK1 at 'Asp-324', which is crucial to inhibit RIPK1 kinase activity, limiting TNF-induced apoptosis, necroptosis and inflammatory response (PubMed:31827280, PubMed:31827281). Also able to initiate pyroptosis by mediating cleavage and activation of gasdermin-C and -D (GSDMC and GSDMD, respectively): gasdermin cleavage promotes release of the N-terminal moiety that binds to membranes and forms pores, triggering pyroptosis (PubMed:32929201, PubMed:34012073). Initiates pyroptosis following inactivation of MAP3K7/TAK1 (By similarity). Also acts as a regulator of innate immunity by mediating cleavage and inactivation of N4BP1 downstream of TLR3 or TLR4, thereby promoting cytokine production (By similarity). May participate in the Granzyme B (GZMB) cell death pathways (PubMed:8755496). Cleaves PARP1 and PARP2 (PubMed:8681376). Independent of its protease activity, promotes cell migration following phosphorylation at Tyr-380 (PubMed:18216014, PubMed:27109099)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [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, "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": 17, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 27, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O14676;Q14791;Q14792;Q14793;Q14794;Q14795;Q14796;Q15780;Q15806;Q53TT5;Q8TDI1;Q8TDI2;Q8TDI3;Q8TDI4;Q8TDI5;Q96T22;Q9C0K4;Q9UQ81", "ec_number_list": [ { "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": "2.4.1.255", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.255", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.4.22.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.36", "type": "external" }, { "id": "3.4.22.55", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.55", "type": "external" }, { "id": "3.4.22.57", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.57", "type": "external" }, { "id": "3.4.22.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.62", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "3.4.22.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.61", "type": "external" }, { "id": "3.4.22.63", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.63", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0044877 protein-containing complex binding;GO:0097110 scaffold protein binding;GO:0008233 peptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol", "go_biological_process": "GO:0001525 angiogenesis;GO:0006508 proteolysis;GO:0007507 heart development;GO:0016485 protein processing;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 33.3, "record_id": "Q14790-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRD5-1", "uniprot_id": [ { "id": "PICK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRD5", "type": "external" } ], "mass": 46600.0, "length": 415, "protein_name": "PRKCA-binding protein", "gene_name": "PICK1", "organism": "Human", "refseq_name": "PRKCA-binding protein", "refseq_ac": [ { "id": "NP_001034672", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034672", "type": "external" } ], "gene_names_uniprotkb": "PICK1; PRKCABP", "gene_names_refseq": "PICK1; PICK; PRKCABP", "protein_names_uniprotkb": "PRKCA-binding protein; Protein interacting with C kinase 1; Protein kinase C-alpha-binding protein", "protein_names_refseq": "PRKCA-binding protein; protein interacting with C kinase 1; protein kinase C-alpha-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9463); (R-HSA-202733); (R-HSA-416993)", "pathway_count": 3, "publication_count": 122, "publication_id_list": "10606205;10623590;10764623;11207550;11237011;11256994;11343649;11564780;11641419;11779189;11802773;11812992;12070135;12208882;12469115;12782713;14529530;14615387;15000751;15178939;15247289;15304526;15528364;15681301;15721307;1591491;16055064;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17327904;17379836;17384233;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18477386;19279206;19413330;20403402;21193412;21659548;22129425;22645359;23481700;23945545;24043627;24715725;24764293;2538457;25576301;25645385;26992070;27397612;28228285;28832583;28834231;29242379;29393594;29493099;29557506;29786170;30315122;30429286;30484775;30779550;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32938616;33298915;33392160;33537174;33912179;33968037;33981976;34171305;34185709;34509645;34932366;35051231;35318648;35455935;35580925;36010968;36215666;36241641;38001535;38427737;468991;7509040;7521878;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Multi-omics study identifies that PICK1 deficiency causes male infertility by inhibiting vesicle trafficking in Sertoli cells. Publication Status: Online-Only, [RefSeq, PubMed]; Probable adapter protein that bind to and organize the subcellular localization of a variety of membrane proteins containing some PDZ recognition sequence. Involved in the clustering of various receptors, possibly by acting at the receptor internalization level. Plays a role in synaptic plasticity by regulating the trafficking and internalization of AMPA receptors. May be regulated upon PRKCA activation. May regulate ASIC1/ASIC3 channel. Regulates actin polymerization by inhibiting the actin-nucleating activity of the Arp2/3 complex; the function is competitive with nucleation promoting factors and is linked to neuronal morphology regulation and AMPA receptor (AMPAR) endocytosis. Via interaction with the Arp2/3 complex involved in regulation of synaptic plasicity of excitatory synapses and required for spine shrinkage during long-term depression (LTD). Involved in regulation of astrocyte morphology, antagonistic to Arp2/3 complex activator WASL/N-WASP function., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Targeting postsynaptic glutamate receptor scaffolding proteins PSD-95 and PICK1 for obesity treatment., [RefSeq, PubMed]; The Scaffold Protein PICK1 as a Target in Chronic Pain. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [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, "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": 4, "reported_mutagensis": 2, "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": "B3KS52;O95906", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005543 phospholipid binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0015844 monoamine transport;GO:0021782 glial cell development;GO:0036294 cellular response to decreased oxygen levels;GO:0006468 protein phosphorylation;GO:0006886 intracellular protein transport", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q9NRD5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6U8-1", "uniprot_id": [ { "id": "ALG9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6U8", "type": "external" } ], "mass": 69863.0, "length": 611, "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "organism": "Human", "refseq_name": "alpha-1,2-mannosyltransferase ALG9 isoform b", "refseq_ac": [ { "id": "NP_001071158", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071158", "type": "external" } ], "gene_names_uniprotkb": "ALG9; DIBD1", "gene_names_refseq": "ALG9; CDG1L; DIBD1; GIKANIS; LOH11CR1J", "protein_names_uniprotkb": "Alpha-1,2-mannosyltransferase ALG9; 2.4.1.259; 2.4.1.261; Asparagine-linked glycosylation protein 9 homolog; Disrupted in bipolar disorder protein 1; Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "protein_names_refseq": "alpha-1,2-mannosyltransferase ALG9 isoform b; alpha-1,2-mannosyltransferase ALG9; asparagine-linked glycosylation 9 alpha-12-mannosyltransferase-like protein; asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase); asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase); asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog; asparagine-linked glycosylation protein 9 homolog; disrupted in bipolar affective disorder 1; disrupted in bipolar disorder protein 1; dol-P-Man dependent alpha-1,2-mannosyltransferase; dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase; dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase; loss of heterozygosity, 11, chromosomal region 1 gene J product", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); congenital disorder of glycosylation Il (Disease Ontology:DOID:0080564); Gillessen-Kaesbach-Nishimura syndrome (MONDO:MONDO:0009890)", "pathway": " (hsa:79796); (R-HSA-446193); (R-HSA-4720454)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10359825;10704531;11230166;11237011;11278778;11807558;11983712;12030331;12200473;12684507;12872255;14709599;14973778;14973782;15148656;15235028;15710750;15840742;15945070;16007612;16100110;16859551;16878994;18313027;18597486;19282279;22742743;22898188;23481700;24190977;24715725;25576301;25645385;25813380;25966638;26154972;26375851;26992070;27600516;28218747;28228285;28832583;28904123;29242379;29437277;30315122;30524438;31395617;31844290;32157095;32357974;32359033;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34405274;34509645;34561969;35051231;35318648;35580925;35839600;36010968;36215666;37761895;37938771;9451016;9597543", "class_list": "glycogene;glycosyltransferase", "function": "ALG9 is a novel disease gene in the genetically heterogeneous autosomal dominant polycystic kidney disease (ADPKD) spectrum., [RefSeq, PubMed]; Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA MEG3 contributes to drug resistance in acute myeloid leukemia by positively regulating ALG9 through sponging miR-155., [RefSeq, PubMed]; Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. In the lumen of the endoplasmic reticulum, catalyzes the addition of the seventh and ninth alpha-1,2-linked mannose residues to Man(6)GlcNAc(2)-PP-dolichol and Man(8)GlcNAc(2)-PP-dolichol respectively., [UniProtKB, PubMed, PubMed]; Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature. Review article, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]., [RefSeq]", "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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 632, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZMD5;Q7Z4R4;Q96GS7;Q96PB9;Q9H068", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.259", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.259", "type": "external" }, { "id": "2.4.1.261", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.261", "type": "external" } ], "go_molecular_function": "GO:0000026 alpha-1,2-mannosyltransferase activity;GO:0052918 dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity;GO:0052926 dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity;GO:0016757 glycosyltransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0098553 lumenal side of endoplasmic reticulum membrane", "go_biological_process": "GO:0006488 dolichol-linked oligosaccharide biosynthetic process;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 505, "hit_score": 8.8, "record_id": "Q9H6U8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94905-1", "uniprot_id": [ { "id": "ERLN2_HUMAN", "url": "https://www.uniprot.org/uniprot/O94905", "type": "external" } ], "mass": 37840.0, "length": 339, "protein_name": "Erlin-2", "gene_name": "ERLIN2", "organism": "Human", "refseq_name": "erlin-2 isoform 2", "refseq_ac": [ { "id": "NP_001003790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003790", "type": "external" } ], "gene_names_uniprotkb": "ERLIN2; C8orf2; PRO9924; SPFH2", "gene_names_refseq": "C8orf2; ERLIN2; Erlin-2; NET32; SPFH2; SPG18A; SPG18B; SPG18", "protein_names_uniprotkb": "Erlin-2; Endoplasmic reticulum lipid raft-associated protein 2; SPFH domain-containing protein 2; Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2", "protein_names_refseq": "SPFH domain family, member 2; endoplasmic reticulum lipid raft-associated protein 2; epididymis secretory sperm binding protein; erlin-2 isoform 2; spastic paraplegia 18 (autosomal dominant); stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2", "tax_id": 9606, "disease": "hereditary spastic paraplegia 18A (Disease Ontology:DOID:0070640); hereditary spastic paraplegia 18B (Disease Ontology:DOID:0070641); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:11160); (R-HSA-382556); (R-HSA-5655302); (R-HSA-5678895); (R-HSA-8853336); (R-HSA-9931269)", "pathway_count": 6, "publication_count": 207, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10449903;10484077;10579907;10652257;10665657;10748049;10918587;11146634;11157491;11237011;11429702;11504826;11562789;11689702;11739186;11812794;12379217;12379510;12403779;12604685;12975309;1352877;1356264;1359686;1377674;14534538;14661924;15050920;15175422;15448205;15472518;15611333;15863492;15899824;16091734;16816140;16835267;16844695;16901789;1695717;17502376;17505008;17523162;17698633;17855752;17894550;17977821;18282684;18337450;18373495;18381441;18412956;18434309;18552176;18716059;18757403;19002207;19103595;19147536;19240031;19381019;19447222;19570978;1968359;19749790;19809159;19862647;19946327;1998343;20094046;20179196;20583968;20621639;20709759;21083385;21160078;21330303;21343306;2135388;21610068;21652558;21666749;21711248;21796390;22047557;2210768;22178883;22318583;2236053;22424782;22544926;22661428;22837387;23063411;23481700;23558953;23584533;24019521;24190977;24217618;24588013;24685677;24715725;2475911;24850843;25133187;25576301;25584290;25645385;2570070;2570460;25813380;25880248;26154972;26208431;26992070;27114449;27452731;27600516;27824013;28132103;28228285;28467828;28514659;28649982;28832565;28832583;28904123;2898143;29055231;29242379;29528531;29557506;29605689;29741879;29769354;29786170;30118680;30315122;30334692;30334693;30352685;30524438;30833945;31154438;31611695;31679946;31844290;31937595;32094424;32157095;32350084;32357974;32387766;32502341;32574038;32897882;32938616;32981041;32983136;33141586;33298915;33392160;33592498;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34405274;34509645;34561969;3457471;3472246;35051231;35154160;35251023;35289036;35580925;36010968;36215666;36241641;36284347;37217939;37831636;37938771;38159148;38665916;39018973;39534244;40596516;7523390;7529176;7553863;7553864;7865904;9652413;9816258;9831708;9857065", "class_list": "", "function": "Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1. Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex. Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER., [RefSeq, PubMed]; KCNN1 promotes proliferation and metastasis of breast cancer via ERLIN2-mediated stabilization and K63-dependent ubiquitination of Cyclin B1., [RefSeq, PubMed]; Mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway., [UniProtKB, UniProtKB, UniProtKB]; Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18., [RefSeq, PubMed]; SPFH2 as a key endoplasmic reticulum associated degradation pathway component and suggest that it may act as a substrate recognition factor., [RefSeq, PubMed]; Study describes an extended consanguineous Saudi family in which hereditary spastic paraplegia is linked to SPG18, an autosomal recessive locus, and show it is associated with a nullimorphic deletion of ERLIN2, [RefSeq, PubMed]; The erlin1/erlin2 complex binds to and stabilizes phosphatidylinositol 3-phosphate and regulates autophagy., [RefSeq, PubMed]; This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A0JLQ1;A8K5S9;B4DM38;D3DSW0;Q6NW21;Q86VS6;Q86W49", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0015485 cholesterol binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0005789 endoplasmic reticulum membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0008203 cholesterol metabolic process;GO:0045717 negative regulation of fatty acid biosynthetic process;GO:0045540 regulation of cholesterol biosynthetic process;GO:0036503 ERAD pathway;GO:0045541 negative regulation of cholesterol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "O94905-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JC9-1", "uniprot_id": [ { "id": "EAF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JC9", "type": "external" } ], "mass": 29042.0, "length": 268, "protein_name": "ELL-associated factor 1", "gene_name": "EAF1", "organism": "Human", "refseq_name": "ELL-associated factor 1", "refseq_ac": [ { "id": "NP_149074", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149074", "type": "external" } ], "gene_names_uniprotkb": "EAF1", "gene_names_refseq": "EAF1", "protein_names_uniprotkb": "ELL-associated factor 1", "protein_names_refseq": "ELL (eleven nineteen lysine-rich leukemia gene)-associated factor 1; ELL-associated factor 1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:85403); (R-HSA-112382); (R-HSA-674695); (R-HSA-75955)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10.1101/2023.09.13.557529;10199401;11237011;11313498;11313499;11418481;11859374;11884399;12676794;12686606;15489290;16006523;16114057;17081983;17234882;17322306;18452278;18669648;18691976;18767875;1939271;19651622;19664994;19952111;20068231;20159561;20230923;21406692;22195968;22895430;23186163;23481700;23783831;24190977;2449431;25505266;25576301;26154972;26659056;26992070;27920218;28832583;28834231;28904123;29242379;29493099;29632711;30429286;31154438;31530632;31844290;31848261;32157095;32265295;32488085;32502341;32897882;32938616;32983136;33298915;33691108;33968037;33981976;34265249;34932366;35051231;35580925;36284347;36305813;7660122;7660129;7660130;8370526;9450929;9489704", "class_list": "", "function": "ATM-mediated ELL phosphorylation enhances its self-association through increased EAF1 interaction and inhibits global transcription during genotoxic stress. Erratum:[Nucleic Acids Res. 2023 Jul 7;51(12):6507. doi: 10.1093/nar/gkad454. PMID: 37194690], [RefSeq, PubMed]; Acts as a transcriptional transactivator of ELL and ELL2 elongation activities., [UniProtKB, PubMed, PubMed]; Allosteric transcription stimulation by RNA polymerase II super elongation complex., [RefSeq, PubMed]; ELL may be an important factor required for U19/Eaf2 function because U19/Eaf2 nuclear localization and transactivation activity are essential for its function as a transcription factor., [RefSeq, PubMed]; ELL-associated factors 1 and 2 are positive regulators of RNA polymerase II elongation factor ELL., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "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": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4E3F5;Q8IW10", "ec_number_list": [], "go_molecular_function": "GO:0003711 transcription elongation factor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0008023 transcription elongation factor complex;GO:0016607 nuclear speck;GO:0016604 nuclear body;GO:0015030 Cajal body", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0006368 transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q96JC9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDV7-1", "uniprot_id": [ { "id": "TNR6A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDV7", "type": "external" } ], "mass": 210297.0, "length": 1962, "protein_name": "Trinucleotide repeat-containing gene 6A protein", "gene_name": "TNRC6A", "organism": "Human", "refseq_name": "trinucleotide repeat-containing gene 6A protein isoform 2", "refseq_ac": [ { "id": "NP_001317449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317449", "type": "external" } ], "gene_names_uniprotkb": "TNRC6A; CAGH26; KIAA1460; TNRC6", "gene_names_refseq": "CAGH26; FAME6; GW182; GW1; TNRC6A; TNRC6", "protein_names_uniprotkb": "Trinucleotide repeat-containing gene 6A protein; CAG repeat protein 26; EMSY interactor protein; GW182 autoantigen; Glycine-tryptophan protein of 182 kDa; Protein GW1", "protein_names_refseq": "CAG repeat protein 26; CTD-2540M10.1; EDIE; EMSY interactor protein; GW182 autoantigen; glycine-tryptophan protein of 182 kDa; trinucleotide repeat containing 6A; trinucleotide repeat-containing gene 6A protein isoform 2; trinucleotide repeat-containing gene 6A protein", "tax_id": 9606, "disease": "familial adult myoclonic epilepsy 6 (Disease Ontology:DOID:0111696)", "pathway": " (hsa:27327); (R-HSA-165159); (R-HSA-1912408); (R-HSA-2559580); (R-HSA-2559585); (R-HSA-4086398); (R-HSA-426496); (R-HSA-5578749); (R-HSA-5628897); (R-HSA-5687128); (R-HSA-8853884); (R-HSA-8934593); (R-HSA-8936459); (R-HSA-8943723); (R-HSA-8948700); (R-HSA-8948747); (R-HSA-8986944); (R-HSA-9018519); (R-HSA-9022692); (R-HSA-9029569); (R-HSA-9759811); (R-HSA-9764562); (R-HSA-9768778); (R-HSA-9824594); (R-HSA-9839394); (R-HSA-9909620)", "pathway_count": 26, "publication_count": 665, "publication_id_list": 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"class_list": "", "function": "GW ribonucleoprotein complex is involved in the posttranscriptional regulation of gene expression, [RefSeq, PubMed]; Hypoxic BMSC-derived exosomal miR-652-3p promotes proliferation and metastasis of hepatocarcinoma cancer cells via targeting TNRC6A., [RefSeq, PubMed]; LINC01082 Inhibits Non-Small Cell Lung Cancer by Targeting the miR-543/TNRC6A Axis., [RefSeq, PubMed]; MiR-652-3p promotes malignancy and metastasis of cancer cells via inhibiting TNRC6A in hepatocellular carcinoma., [RefSeq, PubMed]; Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent repression of translation and for siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As a scaffolding protein, associates with argonaute proteins bound to partially complementary mRNAs, and can simultaneously recruit CCR4-NOT and PAN deadenylase complexes., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RNA helicase DDX6 and scaffold protein GW182 in P-bodies promote biogenesis of stress granules., [RefSeq, PubMed]; This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "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": 3, "reported_o_glycosites_with_glycan": 30, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 30, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 30, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 109, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 36, "binding_glycan_count": 0, "secondary_ac_list": "C9JAR8;O15408;Q658L5;Q6NVB5;Q8NEZ0;Q8TBT8;Q8TCR0;Q9NV59;Q9P268", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0030674 protein-macromolecule adaptor activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000932 P-body;GO:0016442 RISC complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0035196 miRNA processing;GO:0035278 miRNA-mediated gene silencing by inhibition of translation;GO:0060213 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening;GO:0035195 miRNA-mediated post-transcriptional gene silencing;GO:0033962 P-body assembly", "synthesized_glycan_count": 0, "hit_score": 70.3, "record_id": "Q8NDV7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P2E9-1", "uniprot_id": [ { "id": "EDC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P2E9", "type": "external" } ], "mass": 151661.0, "length": 1401, "protein_name": "Enhancer of mRNA-decapping protein 4", "gene_name": "EDC4", "organism": "Human", "refseq_name": "enhancer of mRNA-decapping protein 4 isoform 2", "refseq_ac": [ { "id": "NP_055144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055144", "type": "external" } ], "gene_names_uniprotkb": "EDC4; HEDLS", "gene_names_refseq": "EDC4; GE1; Ge-1; HEDL5; HEDLS; RCD-8; RCD8", "protein_names_uniprotkb": "Enhancer of mRNA-decapping protein 4; Autoantigen Ge-1; Autoantigen RCD-8; Hedls; Human enhancer of decapping large subunit", "protein_names_refseq": "autoantigen Ge-1; autoantigen RCD-8; enhancer of mRNA-decapping protein 4 isoform 2; enhancer of mRNA-decapping protein 4; human enhancer of decapping large subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:23644); (R-HSA-430039)", "pathway_count": 2, "publication_count": 152, "publication_id_list": "10671200;11237011;11283721;12218187;12417715;12486012;12515382;12923261;14654843;14749774;15085179;15231747;15475613;15711010;16051491;16141059;16246173;16299471;16364915;16565220;16964243;17081983;17245413;17525332;17924679;18039849;18077418;18220336;18452278;18491316;18669648;18691976;18707149;19061636;19239894;19279404;19367720;19369195;19413330;19415658;19608861;19651622;19664994;19690332;20058876;20068231;20166139;20230923;23186163;23301498;23481700;24275569;24366607;24715725;25418920;25505266;25576301;25645385;25892735;26154972;26811146;26992070;27600516;27846572;27862975;27918561;27920218;28218747;28228285;28446606;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29511213;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30524438;30779550;31154438;31217245;31222486;31422817;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34229054;34509645;34561969;34725712;34932366;35051231;35138101;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38665916;39531497;39894887;40307207;40914422;7520377;9067524", "class_list": "", "function": "In the process of mRNA degradation, seems to play a role in mRNA decapping. Component of a complex containing DCP2 and DCP1A which functions in decapping of ARE-containing mRNAs. Promotes complex formation between DCP1A and DCP2. Enhances the catalytic activity of DCP2 (in vitro)., [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, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 39, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6NGM1;A8K4T4;Q13025;Q13826;Q6ZR12;Q7Z6H7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0000288 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;GO:0031087 deadenylation-independent decapping of nuclear-transcribed mRNA", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q6P2E9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true } ]